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
RNF38	152006	broad.mit.edu	37	9	36390467	36390467	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:36390467G>A	ENST00000259605.6	-	2	266	c.159C>T	c.(157-159)ttC>ttT	p.F53F	RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000350199.4_Intron	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	53							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TAAGAACCTGGAAGAAAGCTT	0.438000													25	34					0	0	0.005443	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819632	50819632	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50819632C>T	ENST00000374115.3	+	1	1286	c.846C>T	c.(844-846)atC>atT	p.I282I	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	282					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCACTCCCATCCACCGCCTCA	0.652000													20	48					0	0	0.002299	0	0
ABCA13	154664	broad.mit.edu	37	7	48356767	48356767	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:48356767G>A	ENST00000435803.1	+	27	9897	c.9873G>A	c.(9871-9873)ttG>ttA	p.L3291L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3291					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTTTTGCTTGAAGCTTTATC	0.378000													14	36					0	0	0.002450	0	0
OR2B6	26212	broad.mit.edu	37	6	27925685	27925685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27925685C>T	ENST00000244623.1	+	1	667	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTATTGTCCGAGCAGTATT	0.418000													35	143					0	0	0.003755	0	0
PAX1	5075	broad.mit.edu	37	20	21687255	21687255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:21687255G>A	ENST00000398485.2	+	2	520	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E132K	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	156	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.E62K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGCTACAACGAGACCGGCTC	0.652000													24	68					0	0	0.003330	0	0
NPR2	4882	broad.mit.edu	37	9	35800027	35800027	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35800027C>T	ENST00000342694.2	+	4	1251	c.996C>T	c.(994-996)ctC>ctT	p.L332L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	332					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGATGAACCTCATCGCTGGCT	0.527000													37	65					0	0	0.003755	0	0
SSH2	85464	broad.mit.edu	37	17	27963649	27963649	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27963649G>A	ENST00000269033.3	-	14	1669	c.1518C>T	c.(1516-1518)gtC>gtT	p.V506V	SSH2_ENST00000540801.1_Silent_p.V533V|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	506					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCCACAAAGACAGGAGGTA	0.468000													35	63					0	0	0.007835	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412521	110412521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110412521G>A	ENST00000378402.5	+	13	1333	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	410					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)			TACATCAAGGGTGATGACCGT	0.388000										HNSCC(38;0.096)			56	114					0	0	0.003610	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776579	101776579	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:101776579C>T	ENST00000334289.3	-	4	837		c.e4-1			NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5						signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGCAAATTTCCTTAACCATAA	0.274000													5	29					0	0	0.000602	0	0
FGD3	89846	broad.mit.edu	37	9	95776252	95776252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:95776252G>A	ENST00000375482.3	+	9	1650	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D	FGD3_ENST00000416701.2_Missense_Mutation_p.G385D|FGD3_ENST00000337352.6_Missense_Mutation_p.G385D	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	385	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCAAGAACGGCACCCCCCAG	0.617000													21	56					0	0	0.002299	0	0
WWTR1	25937	broad.mit.edu	37	3	149375082	149375082	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:149375082G>A	ENST00000465804.1	-	3	268	c.12C>T	c.(10-12)gcC>gcT	p.A4A	WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000467467.1_Silent_p.A4A|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000360632.3_Silent_p.A4A	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	4					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGGGCGCCGAGGCCGGATTCA	0.562000			T	CAMTA1	epitheliod hemangioendothelioma								18	13					0	0	0.007413	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949602	91949602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91949602C>T	ENST00000375807.3	+	7	1117	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	SECISBP2_ENST00000339901.4_Missense_Mutation_p.P276L|SECISBP2_ENST00000534113.2_Missense_Mutation_p.P281L	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	349					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCTTCGGATCCTTCCTACAAC	0.388000													14	26					0	0	0.001855	0	0
CD33	945	broad.mit.edu	37	19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	rs148758925	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51742917G>A	ENST00000262262.4	+	7	1090	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_ENST00000421133.2_Missense_Mutation_p.E230K|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	357					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCTCCACCGAATACTCAGA	0.527000													11	37					0	0	0.000978	0	0
OSBPL5	114879	broad.mit.edu	37	11	3109521	3109521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:3109521G>A	ENST00000263650.7	-	22	2713	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	OSBPL5_ENST00000525498.1_Missense_Mutation_p.P763S|OSBPL5_ENST00000478260.1_Missense_Mutation_p.P306S|OSBPL5_ENST00000542243.1_Missense_Mutation_p.P483S|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P784S|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P784S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	852					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGGAGGCCTGGGGTCGGTGCC	0.632000													27	1					0	0	0.007291	0	0
MCM3AP	8888	broad.mit.edu	37	21	47662798	47662798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47662798C>T	ENST00000397708.1	-	26	5598	c.5344G>A	c.(5344-5346)Gat>Aat	p.D1782N	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.D1782N|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1782					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTTCAAATCGTTTTTAAAA	0.443000													12	73					0	0	0.001368	0	0
IGSF1	3547	broad.mit.edu	37	X	130415851	130415851	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130415851G>A	ENST00000370904.1	-	14	2197	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	IGSF1_ENST00000370903.3_Silent_p.T438T|IGSF1_ENST00000361420.3_Silent_p.T438T|IGSF1_ENST00000370910.1_Silent_p.T429T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	438	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCACTGAAGGGTGATGGCCT	0.468000													34	1					0	0	0.003755	0	0
PSD4	23550	broad.mit.edu	37	2	113953731	113953731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113953731G>A	ENST00000245796.6	+	12	2428	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	PSD4_ENST00000441564.2_Missense_Mutation_p.E717K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	745					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGATGAAGAAGACACAGC	0.552000													21	64					0	0	0.002299	0	0
RIMS4	140730	broad.mit.edu	37	20	43386794	43386794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43386794C>T	ENST00000372851.3	-	3	334	c.268G>A	c.(268-270)Gac>Aac	p.D90N	RIMS4_ENST00000541604.2_Missense_Mutation_p.D91N	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	90					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AACTGGGCGTCCGACGCCAGG	0.582000													7	44					0	0	0.001984	0	0
TEK	7010	broad.mit.edu	37	9	27228234	27228234	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:27228234G>A	ENST00000380036.4	+	22	3673	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E	TEK_ENST00000406359.4_Silent_p.E1034E|TEK_ENST00000519097.1_Silent_p.E929E	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1077	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCTGGCGGGAGAAGCCTTATG	0.423000													31	36					0	0	0.006999	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28543161C>T	ENST00000452236.2	-	3	1938	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000													53	23					0	0	0.003610	0	0
CNN2	1265	broad.mit.edu	37	19	1037643	1037643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1037643G>A	ENST00000263097.4	+	7	1037	c.674G>A	c.(673-675)gGg>gAg	p.G225E	CNN2_ENST00000562958.2_Missense_Mutation_p.G246E|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.G214E|CNN2_ENST00000348419.3_Missense_Mutation_p.G186E	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	225					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCTCCCGGGACCCGGCGG	0.617000													84	63					0	0	0.003610	0	0
NOMO1	23420	broad.mit.edu	37	16	14947435	14947435	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14947435T>A	ENST00000287667.7	+	8	1018	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	283						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCTTTCTATTCCTTGCCAAG	0.493000													157	152					0	0	0.003610	0	0
LYST	1130	broad.mit.edu	37	1	235973358	235973358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235973358G>A	ENST00000389794.3	-	5	934	c.760C>T	c.(760-762)Cca>Tca	p.P254S	LYST_ENST00000389793.2_Missense_Mutation_p.P254S|LYST_ENST00000536965.1_Missense_Mutation_p.P254S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	254					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGTCAAATGGAGAATTGTTC	0.363000													27	69					0	0	0.005443	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539830	169539830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:169539830C>T	ENST00000340806.6	+	1	121	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GACTGCCATTCCTTTGGAGAT	0.378000													29	71					0	0	0.002836	0	0
TRPM8	79054	broad.mit.edu	37	2	234871952	234871952	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234871952C>T	ENST00000324695.4	+	13	1720	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	TRPM8_ENST00000433712.2_Silent_p.P248P	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	560						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCGGCACCCCCTGCAAGCTC	0.507000													14	18					0	0	0.004990	0	0
VPS13D	55187	broad.mit.edu	37	1	12445353	12445353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12445353C>T	ENST00000358136.3	+	59	11535	c.11405C>T	c.(11404-11406)tCa>tTa	p.S3802L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3777L|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3801					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGCCGTTCATATGAAGTG	0.388000													11	23					0	0	0.001368	0	0
ZNF283	284349	broad.mit.edu	37	19	44351843	44351843	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44351843C>A	ENST00000324461.7	+	7	1387	c.1090C>A	c.(1090-1092)Cag>Aag	p.Q364K	ZNF283_ENST00000588797.1_Missense_Mutation_p.Q225K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGCTTACTCAGCATCAGAA	0.388000													20	78					1.15919e-05	1.86906e-05	0.001216	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963108	106963108	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:106963108C>T	ENST00000390621.2	-	0	231																											GTCCGGGGGCCTGTCGCACCC	0.552000													21	46					0	0	0.003330	0	0
RICTOR	253260	broad.mit.edu	37	5	38959321	38959321	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:38959321G>A	ENST00000357387.3	-	22	2184	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.S718S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	718					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTAAAATTTTGGAAAGGATGA	0.333000													11	73					0	0	0.003163	0	0
IGF1R	3480	broad.mit.edu	37	15	99500587	99500587	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:99500587C>T	ENST00000268035.6	+	21	4631	c.4020C>T	c.(4018-4020)ttC>ttT	p.F1340F	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.F1339F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1340					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCGCCAGCTTCGACGAGAGAC	0.667000													22	30					0	0	0.002299	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250394	1250394	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:1250394C>T	ENST00000348261.5	+	7	1190	c.942C>T	c.(940-942)ccC>ccT	p.P314P	CACNA1H_ENST00000565831.1_Silent_p.P314P|CACNA1H_ENST00000358590.4_Silent_p.P314P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCGCATGCCCTGCACCCTGG	0.677000													4	5					0	0	0.000602	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147163	26147163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:26147163G>A	ENST00000331351.5	+	2	1357	c.965G>A	c.(964-966)gGg>gAg	p.G322E	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	322					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGGACCCTCGGGCTGATCGAT	0.547000													96	72					0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366065	47366065	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47366065G>A	ENST00000505841.1	-	0	44					NR_002788.2																						TCAGCAGCAAGAAGGGGTGAG	0.547000													10	11					0	0	0.000673	0	0
UTP14A	10813	broad.mit.edu	37	X	129063461	129063461	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:129063461C>T	ENST00000394422.3	+	15	2221	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	UTP14A_ENST00000371042.3_Silent_p.P563P|UTP14A_ENST00000371051.5_Silent_p.P677P|UTP14A_ENST00000425117.2_Silent_p.P679P|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	731					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCATTAACCCCATAAAAGCAG	0.512000													12	36					0	0	0.001855	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861030	75861030	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:75861030G>A	ENST00000377636.3	-	21	4141	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	TBC1D4_ENST00000377625.2_Silent_p.L1202L|TBC1D4_ENST00000425511.1_Silent_p.L429L|TBC1D4_ENST00000431480.2_Silent_p.L1257L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1265						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCAGCTTCCGGAGTTGCTCCA	0.448000													26	24					0	0	0.004656	0	0
PTPRF	5792	broad.mit.edu	37	1	44070902	44070902	+	Silent	SNP	G	G	A	rs143712248		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44070902G>A	ENST00000359947.4	+	18	3517	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.S407S|PTPRF_ENST00000438120.1_Silent_p.S1050S|PTPRF_ENST00000372413.3_Silent_p.S1050S|PTPRF_ENST00000372414.3_Silent_p.S1059S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1059	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGGCACTCGATGCGGAAGC	0.612000													14	20					0	0	0.002450	0	0
RORB	6096	broad.mit.edu	37	9	77282800	77282800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77282800C>T	ENST00000376896.2	+	8	1706	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	RORB_ENST00000396204.2_Missense_Mutation_p.A376V	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	376	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCTCATCTGCTGTTCTGATA	0.398000													18	39					0	0	0.002299	0	0
OR52M1	119772	broad.mit.edu	37	11	4566714	4566714	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4566714C>T	ENST00000360213.1	+	1	294	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTGGACGCCTGCTTGGGCC	0.517000													48	13					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247769401	247769401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247769401C>T	ENST00000320002.2	+	1	546	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGCAACCATAGGCTGGA	0.463000													16	65					0	0	0.006122	0	0
FLG2	388698	broad.mit.edu	37	1	152323862	152323862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152323862C>T	ENST00000388718.5	-	3	6472	c.6400G>A	c.(6400-6402)Gga>Aga	p.G2134R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2134							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTCTCCATGTTGAGAT	0.522000													90	339					0	0	0.003610	0	0
ADAM12	8038	broad.mit.edu	37	10	127782640	127782640	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:127782640G>A	ENST00000368679.4	-	11	1377	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ADAM12_ENST00000368676.4_Silent_p.F356F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	356	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.F356F(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATTCATCCCGAAATTGTGGC	0.502000													34	28					0	0	0.002445	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505700	44505700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:44505700C>T	ENST00000255152.2	+	2	712	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P162L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	168							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCATCACTCCTTCTGACCTG	0.493000													41	65					0	0	0.002522	0	0
TAB1	10454	broad.mit.edu	37	22	39817844	39817844	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:39817844C>T	ENST00000216160.6	+	8	851	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TAB1_ENST00000331454.3_Silent_p.S263S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	263	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTGCCAAGTCCAAACCAATCA	0.577000													15	76					0	0	0.003163	0	0
TNXB	7148	broad.mit.edu	37	6	32023874	32023874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32023874C>T	ENST00000375244.3	-	24	8422	c.8221G>A	c.(8221-8223)Gag>Aag	p.E2741K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2741K			P22105	TENX_HUMAN	tenascin XB	2799	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGC	0.627000													156	462					0	0	0.003610	0	0
SND1	27044	broad.mit.edu	37	7	127341362	127341362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127341362C>T	ENST00000354725.3	+	5	768	c.574C>T	c.(574-576)Cag>Tag	p.Q192*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	192					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTCACACCACCAGAAGCCTGT	0.463000													75	7					0	0	0.003610	0	0
FOXI1	2299	broad.mit.edu	37	5	169535234	169535234	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169535234G>A	ENST00000306268.6	+	2	817	c.756G>A	c.(754-756)ttG>ttA	p.L252L	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	252					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACATCTTGGATGGAGCCT	0.597000									Pendred syndrome				29	40					0	0	0.001512	0	0
PRSS12	8492	broad.mit.edu	37	4	119204249	119204249	+	Missense_Mutation	SNP	C	C	T	rs138052286		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:119204249C>T	ENST00000296498.3	-	12	2339	c.2057G>A	c.(2056-2058)aGg>aAg	p.R686K	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	686	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCATAGCTCCTAGTGCTGTT	0.413000													35	63					0	0	0.004289	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443098	1443098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1443098G>A	ENST00000270349.9	-	2	342	c.215C>T	c.(214-216)tCc>tTc	p.S72F	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S72F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	72					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.S72F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCAATGACGGACAGGAGAAA	0.612000													19	65					0	0	0.007413	0	0
TTC3	7267	broad.mit.edu	37	21	38529064	38529064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:38529064G>A	ENST00000399017.2	+	28	5595	c.2848G>A	c.(2848-2850)Gac>Aac	p.D950N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.D950N|TTC3_ENST00000354749.2_Missense_Mutation_p.D950N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	950					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCACAAACTAGACTCTATAGA	0.388000													9	61					0	0	0.004482	0	0
CENPT	80152	broad.mit.edu	37	16	67866145	67866145	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67866145T>C	ENST00000562787.1	-	6	823	c.275A>G	c.(274-276)aAc>aGc	p.N92S	CENPT_ENST00000219172.3_Missense_Mutation_p.N92S|CENPT_ENST00000564817.1_Missense_Mutation_p.N92S|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Intron|CENPT_ENST00000440851.2_Missense_Mutation_p.N92S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	92					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TAGTAGGATGTTCTTCAGCAG	0.537000													41	23					0	0	0.003610	0	0
DCDC1	341019	broad.mit.edu	37	11	30928159	30928159	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:30928159G>A	ENST00000597505.1	-	28	4031	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	DCDC1_ENST00000339794.5_Silent_p.F423F|DCDC1_ENST00000406071.2_Silent_p.F79F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAATACAGAGGAATGGAACCC	0.463000													13	4					0	0	0.002450	0	0
GREB1	9687	broad.mit.edu	37	2	11728976	11728976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:11728976G>A	ENST00000381486.2	+	10	1564	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	GREB1_ENST00000234142.5_Missense_Mutation_p.E422K|GREB1_ENST00000381483.2_Missense_Mutation_p.E422K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	422						integral to membrane		p.E422K(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGCATACGAGCAGTACGG	0.587000													23	57					0	0	0.004656	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463648	6463648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6463648G>A	ENST00000358945.3	-	7	1756	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	SCNN1A_ENST00000228916.2_Missense_Mutation_p.P439L|SCNN1A_ENST00000396966.2_Missense_Mutation_p.P439L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P462L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P498L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P139L|SCNN1A_ENST00000538979.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	439					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CACGTTCTGGGGCCGCGGATA	0.582000													9	31					0	0	0.004482	0	0
GABRB3	2562	broad.mit.edu	37	15	26825604	26825604	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:26825604C>T	ENST00000541819.2	-	7	815		c.e7-1		GABRB3_ENST00000545868.1_Splice_Site|GABRB3_ENST00000311550.5_Splice_Site|GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000400188.3_Splice_Site			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.?(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTGTAGCCATCTGCCAAGAGA	0.493000													12	48					0	0	0.004007	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719196	48719196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48719196G>A	ENST00000294129.2	-	5	735	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.P199S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.P206S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	206	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCCCGGAGGGCATGGTGTTG	0.622000													6	2					0	0	0.001984	0	0
GCSAML	148823	broad.mit.edu	37	1	247737445	247737445	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247737445G>A	ENST00000366491.2	+	7	606	c.108_splice	c.e7-1	p.E37_splice	GCSAML_ENST00000536561.1_Splice_Site_p.E37_splice|GCSAML_ENST00000527084.1_Splice_Site_p.E25_splice|GCSAML_ENST00000366488.4_Splice_Site_p.E57_splice|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Splice_Site_p.E25_splice|GCSAML_ENST00000366489.1_Splice_Site_p.E37_splice|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Splice_Site_p.E25_splice					germinal center-associated, signaling and motility-like																		TGCTTGGCAGGAAAACGAGAA	0.438000													34	95					0	0	0.005524	0	0
IDH3G	3421	broad.mit.edu	37	X	153056285	153056285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:153056285G>A	ENST00000370092.3	-	2	288	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	IDH3G_ENST00000370093.1_Missense_Mutation_p.P35S|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000217901.5_Missense_Mutation_p.P35S	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	35					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TTCCTCGAGGGGACCTCGTGG	0.567000													27	5					0	0	0.007291	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869154	22869154	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:22869154G>A	ENST00000302097.3	-	2	1053	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCTTTCTTGGGATCAAAGG	0.433000													18	100					0	0	0.006122	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272495	11272495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:11272495C>T	ENST00000409790.1	+	24	3340	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P124L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	1037								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCACAGAGCCCGTGGGCGAA	0.692000													4	8					0	0	0.000248	0	0
RAB5C	5878	broad.mit.edu	37	17	40278855	40278855	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40278855G>A	ENST00000393860.3	-	6	769	c.453C>T	c.(451-453)gcC>gcT	p.A151A	RAB5C_ENST00000547517.1_Silent_p.A184A|CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Silent_p.A151A	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGTCTGCATAGGCTTGTGCTT	0.512000													62	114					0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141497611	141497611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:141497611C>T	ENST00000264952.2	+	1	622	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	162	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAAGAGCAGCCCTTTAAGGAT	0.547000													20	56					0	0	0.002780	0	0
GOT1	2805	broad.mit.edu	37	10	101163312	101163312	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101163312G>A	ENST00000370508.5	-	7	900	c.873C>T	c.(871-873)atC>atT	p.I291I	GOT1_ENST00000543866.1_Silent_p.I270I	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	291					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAATCCGCACGATCTTCTCCA	0.537000													29	70					0	0	0.001786	0	0
DNAH9	1770	broad.mit.edu	37	17	11687804	11687804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11687804G>A	ENST00000262442.3	+	41	8077	c.8009G>A	c.(8008-8010)gGa>gAa	p.G2670E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2670E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2670	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCCACAGGAATCAAATTC	0.517000													66	56					0	0	0.003610	0	0
GRIA4	2893	broad.mit.edu	37	11	105842677	105842677	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:105842677G>A	ENST00000282499.5	+	15	2777	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E	GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000530497.1_Silent_p.E777E|GRIA4_ENST00000533094.1_Intron	NM_000829.3	NP_000820.3	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	777					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AACTCAGTGAGGCAGGCGTCT	0.403000													23	24					0	0	0.003330	0	0
LTBP2	4053	broad.mit.edu	37	14	74978046	74978046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74978046G>A	ENST00000261978.4	-	19	3316	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P977L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	977	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGGTACCGGGGTGACGGCA	0.567000													31	17					0	0	0.004289	0	0
SETDB2	83852	broad.mit.edu	37	13	50042072	50042072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:50042072C>T	ENST00000354234.4	+	5	1187	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SETDB2_ENST00000317257.8_Missense_Mutation_p.S106F|SETDB2_ENST00000258672.5_Missense_Mutation_p.S94F	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	106					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGAAAACTCCTTTCCAGAA	0.328000													4	20					0	0	0.000248	0	0
ITGAM	3684	broad.mit.edu	37	16	31308886	31308886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31308886G>A	ENST00000544665.3	+	13	1479	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	ITGAM_ENST00000287497.8_Missense_Mutation_p.G470S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	470					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGACAGCAACGGCAGCACCGA	0.637000													47	109					0	0	0.003610	0	0
LMAN1	3998	broad.mit.edu	37	18	57021803	57021803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:57021803G>A	ENST00000251047.5	-	4	1204	c.487C>T	c.(487-489)Cct>Tct	p.P163S		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	163	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACTATAGCAGGATTATTTTTC	0.284000													8	50					0	0	0.003080	0	0
HPSE	10855	broad.mit.edu	37	4	84243433	84243433	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:84243433G>A	ENST00000405413.2	-	3	448	c.312C>T	c.(310-312)ttC>ttT	p.F104F	HPSE_ENST00000512196.1_Silent_p.F104F|HPSE_ENST00000311412.5_Silent_p.F104F|HPSE_ENST00000513463.1_Silent_p.F104F	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	104					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCTTGGGATCGAAAATTAGGA	0.418000													6	23					0	0	0.001168	0	0
DUSP5	1847	broad.mit.edu	37	10	112266805	112266805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:112266805G>A	ENST00000369583.3	+	3	925	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	214	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GTCTCCCGACGGACCTCCGAG	0.552000													75	90					0	0	0.003610	0	0
MROH7	374977	broad.mit.edu	37	1	55167895	55167895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55167895G>A	ENST00000414150.2	+	20	3696	c.3418G>A	c.(3418-3420)Gag>Aag	p.E1140K	MROH7_ENST00000454855.2_Missense_Mutation_p.E658K|MROH7_ENST00000409996.1_Missense_Mutation_p.E708K|MROH7_ENST00000421030.2_Missense_Mutation_p.E1140K					maestro heat-like repeat family member 7																		GACCATGCAGGAGGGCAACTC	0.617000													5	8					0	0	0.000602	0	0
STARD8	9754	broad.mit.edu	37	X	67937560	67937560	+	Silent	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:67937560T>A	ENST00000252336.6	+	5	936	c.564T>A	c.(562-564)ggT>ggA	p.G188G	STARD8_ENST00000374597.3_Silent_p.G188G|STARD8_ENST00000374599.3_Silent_p.G268G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	188			G -> S (in a breast cancer sample; somatic mutation).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCTCAGCCGGTGGCAGTGGTG	0.612000													4	9					0	0	0.000602	0	0
FOXI1	2299	broad.mit.edu	37	5	169535329	169535329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169535329C>T	ENST00000306268.6	+	2	912	c.851C>T	c.(850-852)tCt>tTt	p.S284F	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	284					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCTTTCCTCTATGACAGCC	0.637000									Pendred syndrome				17	68					0	0	0.007413	0	0
STEAP2	261729	broad.mit.edu	37	7	89866207	89866207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:89866207C>T	ENST00000394626.1	+	6	1671	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	STEAP2_ENST00000394632.1_Silent_p.I396I|STEAP2_ENST00000394629.2_Missense_Mutation_p.L446F|STEAP2_ENST00000287908.3_3'UTR|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_3'UTR	NM_001244945.1	NP_001231874.1	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	0					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTTAAAGATCTTTTGCAGCT	0.383000													32	47					0	0	0.004878	0	0
CSF1	1435	broad.mit.edu	37	1	110466588	110466588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110466588C>T	ENST00000329608.6	+	6	1736	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.R449W|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	449					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCAGGGATCGGAGGAGCCC	0.647000													25	25					0	0	0.004656	0	0
DDX51	317781	broad.mit.edu	37	12	132627287	132627287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:132627287G>A	ENST00000397333.3	-	3	694	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	219					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AAAGTAGGACGAGATGCCGTG	0.622000													16	25					0	0	0.004990	0	0
OR4M1	441670	broad.mit.edu	37	14	20248886	20248886	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20248886C>T	ENST00000315957.4	+	1	486	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTACCATCATGAATCGAC	0.498000													96	573					0	0	0.003610	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566617	55566617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:55566617G>A	ENST00000436346.1	-	13	2342	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.Q501*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.Q501*|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.Q501*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	501					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGAGCCTTTGATTTTCTTTT	0.299000													13	12					0	0	0.002450	0	0
DISP2	85455	broad.mit.edu	37	15	40659901	40659901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40659901C>T	ENST00000267889.3	+	8	1675	c.1588C>T	c.(1588-1590)Ctt>Ttt	p.L530F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	530	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCTTCTTCCTTTACCAGGT	0.607000													19	44					0	0	0.001523	0	0
BSDC1	55108	broad.mit.edu	37	1	32833963	32833963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32833963G>A	ENST00000341071.7	-	10	1407	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000455895.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000446293.2_Intron|BSDC1_ENST00000463967.1_5'UTR|BSDC1_ENST00000419121.2_Intron			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	277							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCCTCCTGAGGGGACAGC	0.622000													12	7					0	0	0.001368	0	0
PHF21B	112885	broad.mit.edu	37	22	45312465	45312465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:45312465C>T	ENST00000313237.5	-	4	409	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	PHF21B_ENST00000447824.3_Missense_Mutation_p.G75S|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87S|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75S|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	87							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CGGTCCCGGCCCGGGGCAACG	0.632000													59	26					0	0	0.003610	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900656	22900656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:22900656G>A	ENST00000276431.4	-	2	529	c.245C>T	c.(244-246)cCa>cTa	p.P82L	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P82L	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	82					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CATACCAGGTGGACACAATCC	0.532000													4	5					0	0	0.000602	0	0
AP1M2	10053	broad.mit.edu	37	19	10687881	10687881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10687881G>A	ENST00000590923.1	-	9	1129	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	AP1M2_ENST00000250244.6_Missense_Mutation_p.S347F			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	347	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TACCGGGAAAGACTTAATACT	0.587000													4	9					0	0	0.000248	0	0
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512000													34	4					0	0	0.003271	0	0
RFPL1	5988	broad.mit.edu	37	22	29835098	29835098	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:29835098G>A	ENST00000354373.2	+	1	527	c.318G>A	c.(316-318)ctG>ctA	p.L106L	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	106							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAAGGAACTGGAGCCCAAGC	0.527000													38	128					0	0	0.006999	0	0
KCNT1	57582	broad.mit.edu	37	9	138670594	138670594	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:138670594G>A	ENST00000298480.5	+	23	2729	c.2655G>A	c.(2653-2655)aaG>aaA	p.K885K	KCNT1_ENST00000371757.2_Silent_p.K885K|KCNT1_ENST00000486577.2_Silent_p.K844K|KCNT1_ENST00000263604.3_Silent_p.K866K|KCNT1_ENST00000491806.2_Silent_p.K852K|KCNT1_ENST00000488444.2_Silent_p.K866K|KCNT1_ENST00000490355.2_Silent_p.K864K|KCNT1_ENST00000487664.1_Silent_p.K840K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	885						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGGTGGACAAGGAGAGCACCA	0.652000													11	33					0	0	0.000673	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082809	73082809	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73082809C>T	ENST00000373189.5	+	2	350	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	100					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCAGACATCCTGGTAAGGGC	0.552000													18	20					0	0	0.007413	0	0
TPP1	1200	broad.mit.edu	37	11	6635861	6635861	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:6635861G>A	ENST00000533371.1	-	12	1677	c.879C>T	c.(877-879)ttC>ttT	p.F293F	TPP1_ENST00000299427.6_Silent_p.F536F			O14773	TPP1_HUMAN	tripeptidyl peptidase I	536					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GACCAGAGCAGAAACCCTGGC	0.562000													16	25					0	0	0.004990	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066866	40066866	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40066866C>T	ENST00000336649.4	+	29	4464	c.4464C>T	c.(4462-4464)tcC>tcT	p.S1488S	CACNA1I_ENST00000404898.1_Silent_p.S1447S|CACNA1I_ENST00000402142.3_Silent_p.S1482S|CACNA1I_ENST00000401624.1_Silent_p.S1482S|CACNA1I_ENST00000400164.3_Silent_p.S1447S|CACNA1I_ENST00000407673.1_Silent_p.S1447S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1482					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCCACTCCATGTGCACCA	0.587000													32	134					0	0	0.004878	0	0
CDH9	1007	broad.mit.edu	37	5	26915831	26915831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:26915831C>T	ENST00000231021.4	-	3	602	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGATAAATTCCGATTCCGGT	0.398000													31	150					0	0	0.001786	0	0
UNC5B	219699	broad.mit.edu	37	10	73051439	73051439	+	Silent	SNP	C	C	T	rs150389249	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73051439C>T	ENST00000335350.6	+	10	1961	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	UNC5B_ENST00000373192.4_Silent_p.F504F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	515					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTAGCGATTTCGCCCGGGACA	0.682000													28	23					0	0	0.001786	0	0
DSP	1832	broad.mit.edu	37	6	7568118	7568118	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7568118G>A	ENST00000379802.3	+	10	1586	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	DSP_ENST00000418664.2_Silent_p.L415L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	415	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCACCTGCTGGAACAGATCA	0.542000													7	49					0	0	0.003080	0	0
C10orf120	399814	broad.mit.edu	37	10	124458905	124458905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124458905G>A	ENST00000329446.4	-	2	231	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	67										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCGTGGGTCTGATCTGTAGAA	0.502000													20	34					0	0	0.002780	0	0
KLHDC10	23008	broad.mit.edu	37	7	129760665	129760665	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129760665C>T	ENST00000335420.5	+	4	686	c.552C>T	c.(550-552)gtC>gtT	p.V184V		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCAATGACGTCCATGTGTGTA	0.483000													36	177					0	0	0.004878	0	0
EEPD1	80820	broad.mit.edu	37	7	36327374	36327374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:36327374G>A	ENST00000242108.4	+	6	2021	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	EEPD1_ENST00000534978.1_Missense_Mutation_p.E435K	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	435					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GACCCTACAGGAAACCCTGAA	0.562000													21	115					0	0	0.001882	0	0
PCLO	27445	broad.mit.edu	37	7	82546144	82546144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82546144C>T	ENST00000423517.2	-	7	11495	c.11158G>A	c.(11158-11160)Gtt>Att	p.V3720I	PCLO_ENST00000437081.1_Missense_Mutation_p.V440I|PCLO_ENST00000333891.8_Missense_Mutation_p.V3720I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3651					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTTTTAACTTTTTTCTGG	0.383000													161	10					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77910348	77910348	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:77910348C>T	ENST00000302536.2	+	5	957	c.804C>T	c.(802-804)ccC>ccT	p.P268P	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	268							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCTCAAACCCCTGGGAACCT	0.473000													23	77					0	0	0.004656	0	0
C10orf71	118461	broad.mit.edu	37	10	50531805	50531805	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50531805C>T	ENST00000374144.3	+	3	1503	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	C10orf71_ENST00000323868.4_Silent_p.N405N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	405										endometrium(1)	1						CACAGACCAACCAGAGAGGCC	0.458000													18	66					0	0	0.007413	0	0
CDK20	23552	broad.mit.edu	37	9	90586150	90586150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:90586150C>T	ENST00000375883.3	-	3	596	c.290G>A	c.(289-291)aGg>aAg	p.R97K	CDK20_ENST00000325303.8_Missense_Mutation_p.R97K|CDK20_ENST00000336654.5_Missense_Mutation_p.R110K|CDK20_ENST00000605159.1_Missense_Mutation_p.R97K|CDK20_ENST00000375871.4_Missense_Mutation_p.R97K	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	97	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCTAGTGGCCTCTGGGCATG	0.582000													6	16					0	0	0.003080	0	0
GMPPA	29926	broad.mit.edu	37	2	220370413	220370413	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220370413C>G	ENST00000373917.3	+	9	1060	c.989C>G	c.(988-990)cCc>cGc	p.P330R	GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000341142.3_Intron			Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	285					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		ATATTTGCCCCCAGGGCCTCT	0.592000													10	8					0	0	0.006214	0	0
CYP2D7	1564	broad.mit.edu	37	22	42536660	42536660	+	RNA	SNP	G	G	A	rs143457816	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:42536660G>A	ENST00000435101.1	-	0	343				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						TCTTCCAGACGGCCTCATCCT	0.602000													6	9					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65346846	65346846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:65346846G>A	ENST00000483466.1	-	23	3990	c.3749C>T	c.(3748-3750)tCc>tTc	p.S1250F	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.S1154F	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1250					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCCAGGGAAGGAAGGAATGTT	0.483000													34	36					0	0	0.003271	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351701	25351701	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25351701G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						TGGAAACCTTGGAAATCTGAA	0.463000													22	17					0	0	0.002299	0	0
EPHA4	2043	broad.mit.edu	37	2	222428683	222428683	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:222428683G>A	ENST00000281821.2	-	3	632	c.591C>T	c.(589-591)gtC>gtT	p.V197V	EPHA4_ENST00000409938.1_Silent_p.V197V|EPHA4_ENST00000409854.1_Silent_p.V197V|EPHA4_ENST00000392071.4_Silent_p.V146V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	197	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGAACACACGGACTGATACCA	0.527000													22	51					0	0	0.003330	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748298	68748298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:68748298C>T	ENST00000309106.3	-	1	157	c.158G>A	c.(157-159)gGc>gAc	p.G53D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	53						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATTCGAAAGCCCAGCAGCCA	0.602000													14	29					0	0	0.002450	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103820	2103820	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:2103820G>A	ENST00000400921.2	+	10	1412	c.729G>A	c.(727-729)gaG>gaA	p.E243E	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E243E	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	426					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCGGGGAGAGGAGTACGGTG	0.642000													4	4					0	0	0.000248	0	0
CPXM1	56265	broad.mit.edu	37	20	2778807	2778807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:2778807G>A	ENST00000380605.2	-	4	645	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	194	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCCAGACAGAGTTCCTGCC	0.622000													15	12					0	0	0.006122	0	0
STYK1	55359	broad.mit.edu	37	12	10782194	10782194	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10782194C>T	ENST00000075503.3	-	6	1051	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	177	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCAGCTGCACCAGGTTTTTGT	0.527000										HNSCC(73;0.22)			8	38					0	0	0.006214	0	0
PLCB2	5330	broad.mit.edu	37	15	40589767	40589767	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40589767C>T	ENST00000260402.3	-	13	1527	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	PLCB2_ENST00000456256.2_Silent_p.T426T|PLCB2_ENST00000557821.1_Silent_p.T426T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	426	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T426T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCCCAAAGATCGTCCGGCAAT	0.597000													19	29					0	0	0.002780	0	0
AOAH	313	broad.mit.edu	37	7	36657921	36657921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:36657921C>T	ENST00000431169.1	-	10	1033	c.733G>A	c.(733-735)Gag>Aag	p.E245K	AOAH_ENST00000535891.1_Missense_Mutation_p.E213K|AOAH_ENST00000258749.5_Missense_Mutation_p.E245K	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	245					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AATTTCTTCTCATATGGAACT	0.338000													30	92					0	0	0.002445	0	0
PHLPP1	23239	broad.mit.edu	37	18	60646130	60646130	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:60646130C>T	ENST00000400316.4	+	17	4865	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	PHLPP1_ENST00000262719.5_Silent_p.F1540F	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1540					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTAGCGCCTTCTCCGACAACG	0.642000													3	8					0	0	0.000248	0	0
CPD	1362	broad.mit.edu	37	17	28712108	28712108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28712108C>T	ENST00000225719.4	+	2	924	c.848C>T	c.(847-849)tCa>tTa	p.S283L	CPD_ENST00000543464.2_Missense_Mutation_p.S36L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	283	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGCAAAACCTCAGATGATGAA	0.418000													23	68					0	0	0.002299	0	0
SRL	6345	broad.mit.edu	37	16	4242450	4242450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4242450C>T	ENST00000399609.3	-	6	1138	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SRL_ENST00000537996.1_Missense_Mutation_p.D334N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	835	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TAGAATTTATCGGGATCTTCC	0.478000													19	50					0	0	0.006122	0	0
MARC2	54996	broad.mit.edu	37	1	220936284	220936284	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220936284C>A	ENST00000366913.3	+	4	840	c.642C>A	c.(640-642)atC>atA	p.I214I	MARC2_ENST00000359316.2_Silent_p.I214I	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	214	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CGCTCCTGATCATGACAGATG	0.488000													15	49					5.01169e-05	8.06908e-05	0.004990	1	0
ZNF598	90850	broad.mit.edu	37	16	2049689	2049689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2049689G>A	ENST00000563630.1	-	9	1938	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	ZNF598_ENST00000431526.1_Missense_Mutation_p.P621S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P566S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	621						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTGCTGGCAGGAGCTTCCGGG	0.677000													6	21					0	0	0.003080	0	0
C9orf172	389813	broad.mit.edu	37	9	139741099	139741099	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139741099C>T	ENST00000436881.1	+	1	2233	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	745										endometrium(2)|large_intestine(1)|lung(6)	9						TGTCGGCTTCCTGTCGCGCGG	0.701000													4	8					0	0	0.000248	0	0
RHOU	58480	broad.mit.edu	37	1	228879481	228879481	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228879481C>T	ENST00000366691.3	+	3	1437	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	257					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACTGCTGTTTCGTATGATGCT	0.408000													14	56					0	0	0.002450	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651718	128651718	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:128651718G>A	ENST00000281154.4	+	1	186	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	6					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GTGAGCCTGCGAAAAAGAAGG	0.552000													18	65					0	0	0.007413	0	0
TTC8	123016	broad.mit.edu	37	14	89338717	89338717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:89338717C>T	ENST00000338104.6	+	13	1368	c.1316C>T	c.(1315-1317)gCt>gTt	p.A439V	TTC8_ENST00000346301.4_Missense_Mutation_p.A383V|TTC8_ENST00000358622.5_Missense_Mutation_p.A225V|TTC8_ENST00000536576.1_Missense_Mutation_p.A184V|TTC8_ENST00000345383.5_Missense_Mutation_p.A413V|TTC8_ENST00000354441.6_Missense_Mutation_p.A158V|TTC8_ENST00000380656.2_Missense_Mutation_p.A423V			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	449					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCAGGCTGGCTCTGGTCAAC	0.532000													25	33					0	0	0.003330	0	0
SYT10	341359	broad.mit.edu	37	12	33535403	33535403	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33535403C>T	ENST00000228567.3	-	5	1547	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	SYT10_ENST00000535526.1_Silent_p.R236R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	417	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAGTTGTTTTCCTCTTTTTTA	0.368000													21	53					0	0	0.005443	0	0
CDSN	1041	broad.mit.edu	37	6	31083860	31083860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31083860G>A	ENST00000376288.2	-	2	1558	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	511					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCTAGCTGGGGCCCCAGAGG	0.562000													20	84					0	0	0.002780	0	0
DRC1	92749	broad.mit.edu	37	2	26676345	26676345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26676345C>T	ENST00000288710.2	+	14	1921	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		ACCCCACCCTCCCCCTGGGTC	0.582000													28	16					0	0	0.005443	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71101260C>T	ENST00000393567.2	-	15	2158	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	670										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGCCAGCTCGTATTTCTGC	0.527000													34	22					0	0	0.005524	0	0
NUP205	23165	broad.mit.edu	37	7	135300760	135300760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:135300760C>T	ENST00000285968.6	+	24	3433	c.3407C>T	c.(3406-3408)aCc>aTc	p.T1136I		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1136					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGGTCACATACCCAGAGGCTC	0.428000													15	105					0	0	0.006122	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154728	9154728	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:9154728G>A	ENST00000382496.5	-	12	2018	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	451	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCTCTCAGGGAAGAGCTCAA	0.557000													43	57					0	0	0.003610	0	0
LALBA	3906	broad.mit.edu	37	12	48963762	48963762	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48963762G>A	ENST00000549817.1	-	1	87	c.42C>T	c.(40-42)ttC>ttT	p.F14F	LALBA_ENST00000301046.2_Silent_p.F14F			P00709	LALBA_HUMAN	lactalbumin, alpha-	14					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						GGATGGCAGGGAACAGGATGC	0.468000													147	36					0	0	0.003610	0	0
RASAL3	64926	broad.mit.edu	37	19	15564295	15564295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15564295C>T	ENST00000343625.6	-	15	2373	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	765					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGGGCTTCTCCCCTGCGGAG	0.662000													3	8					0	0	0.004672	0	0
TULP3	7289	broad.mit.edu	37	12	3040401	3040401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:3040401C>T	ENST00000448120.2	+	6	742	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q231*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	231					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAAGAAAATCAGAAGGTATG	0.403000													12	2					0	0	0.001368	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245385	84245385	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:84245385G>A	ENST00000324537.5	+	9	1032	c.540G>A	c.(538-540)aaG>aaA	p.K180K	SH3GL3_ENST00000434347.1_Silent_p.K180K|SH3GL3_ENST00000427482.2_Silent_p.K172K|SH3GL3_ENST00000535412.1_Silent_p.K172K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	172	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATTATAAAAAGAAACGAGTAG	0.413000													30	32					0	0	0.002445	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735780	12735780	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:12735780C>T	ENST00000380682.1	+	16	3341	c.2835C>T	c.(2833-2835)ccC>ccT	p.P945P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	945					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTACCACCCCCTTGCAGAAG	0.587000													34	67					0	0	0.005524	0	0
MYO1A	4640	broad.mit.edu	37	12	57423625	57423625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57423625C>T	ENST00000442789.2	-	26	2910	c.2623G>A	c.(2623-2625)Ggg>Agg	p.G875R	MYO1A_ENST00000544473.1_Missense_Mutation_p.G713R|MYO1A_ENST00000300119.3_Missense_Mutation_p.G875R	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	875					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTGCAGCCCAATGTAGTCA	0.592000													157	57					0	0	0.003610	0	0
ACAP3	116983	broad.mit.edu	37	1	1231242	1231242	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1231242G>A	ENST00000354700.5	-	18	1781	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	ACAP3_ENST00000353662.3_Silent_p.L485L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	527					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						GGGGCCTCCAGGGCTGGTGCC	0.652000													13	9					0	0	0.001855	0	0
DDX41	51428	broad.mit.edu	37	5	176939113	176939113	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176939113G>A	ENST00000507955.1	-	16	2239	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	572					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TGTCCAGCATGGACTCATCCC	0.617000													48	23					0	0	0.003610	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552028	178552028	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178552028C>T	ENST00000251582.7	-	19	3005	c.2904G>A	c.(2902-2904)cgG>cgA	p.R968R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	968	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCTGCAGGCCCGGCGGCTCT	0.687000													13	63					0	0	0.003163	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379098	114379098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:114379098C>T	ENST00000312719.5	-	5	1552	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E122K|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	122					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGTGGATTTCTTGAGAGGCT	0.443000													39	17					0	0	0.007835	0	0
DNAH5	1767	broad.mit.edu	37	5	13829760	13829760	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13829760G>A	ENST00000265104.4	-	38	6407	c.6303C>T	c.(6301-6303)ttC>ttT	p.F2101F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2101	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACTGAGCGGAAATTAATCT	0.453000									Kartagener syndrome				30	42					0	0	0.002836	0	0
COL5A1	1289	broad.mit.edu	37	9	137707430	137707430	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:137707430G>A	ENST00000371817.3	+	51	4437	c.4023G>A	c.(4021-4023)gtG>gtA	p.V1341V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1341	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)		AGGGCCCAGTGGGTTTTCCTG	0.617000													5	10					0	0	0.001168	0	0
LMTK2	22853	broad.mit.edu	37	7	97832933	97832933	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97832933C>T	ENST00000297293.5	+	12	4448	c.4155C>T	c.(4153-4155)ggC>ggT	p.G1385G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1385					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGCGTGCGGCCCGGACCTGA	0.602000													10	25					0	0	0.000978	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687365	8687365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8687365C>T	ENST00000299663.3	-	6	694	c.529G>A	c.(529-531)Gag>Aag	p.E177K	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.E132K	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	177	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GCACAGTCCTCCAGGGTAGCT	0.413000													45	20					0	0	0.003610	0	0
PAK7	57144	broad.mit.edu	37	20	9560902	9560902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9560902C>T	ENST00000378429.3	-	5	1426	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PAK7_ENST00000353224.5_Missense_Mutation_p.E294K|PAK7_ENST00000378423.1_Missense_Mutation_p.E294K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	294	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCATCGGTTCCTGGAGTCCC	0.552000													45	20					0	0	0.003610	0	0
PTCH2	8643	broad.mit.edu	37	1	45295074	45295074	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:45295074C>T	ENST00000447098.2	-	9	1226	c.1215_splice	c.e9+1	p.M405_splice	PTCH2_ENST00000372192.3_Splice_Site_p.M405_splice	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	405	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAAGACCCACCATGAGCAGAT	0.632000									Basal Cell Nevus syndrome				13	33					0	0	0.001855	0	0
PASK	23178	broad.mit.edu	37	2	242062230	242062230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242062230G>A	ENST00000403638.3	-	12	3080	c.2989C>T	c.(2989-2991)Caa>Taa	p.Q997*	PASK_ENST00000544142.1_Nonsense_Mutation_p.Q811*|PASK_ENST00000405260.1_Nonsense_Mutation_p.Q997*|PASK_ENST00000358649.4_Nonsense_Mutation_p.Q997*|PASK_ENST00000234040.4_Nonsense_Mutation_p.Q997*|PASK_ENST00000539818.1_Nonsense_Mutation_p.Q781*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	997					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGTACTTTTGGGAGTACTCG	0.592000													21	30					0	0	0.003330	0	0
PASD1	139135	broad.mit.edu	37	X	150828184	150828184	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150828184G>A	ENST00000370357.4	+	10	962		c.e10-1			NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1							nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATGTACAGGACCAAATTG	0.368000													18	26					0	0	0.001216	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767908	41767908	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:41767908G>A	ENST00000379483.3	-	1	794	c.486C>T	c.(484-486)tcC>tcT	p.S162S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	162							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGGCTAAGAAGGAGGCACAGG	0.582000													21	30					0	0	0.003330	0	0
WNK2	65268	broad.mit.edu	37	9	96002179	96002179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96002179G>A	ENST00000297954.4	+	6	1463	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	WNK2_ENST00000349097.3_Missense_Mutation_p.G100E|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G100E|WNK2_ENST00000395477.2_Missense_Mutation_p.G488E|WNK2_ENST00000395475.2_Missense_Mutation_p.G474E			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	488					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AAACTGAAGGGAAAGCCCAAG	0.602000													9	4					0	0	0.000673	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962285	56962285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:56962285G>A	ENST00000371250.3	-	6	1425	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	292					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATTTCCTTCCGGATAGCAGGG	0.468000													28	32					0	0	0.006320	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766245	27766245	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:27766245C>T	ENST00000451261.2	+	5	1632	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TCAAGAAATTCACTCCTCATC	0.428000													14	19					0	0	0.002450	0	0
NELL1	4745	broad.mit.edu	37	11	20948935	20948935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:20948935C>T	ENST00000298925.5	+	9	1078	c.925C>T	c.(925-927)Cga>Tga	p.R309*	NELL1_ENST00000357134.5_Nonsense_Mutation_p.R281*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R281*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.R224*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTGCTCTATCGAGATCAAGA	0.398000													24	4					0	0	0.006320	0	0
SLC51A	200931	broad.mit.edu	37	3	195944803	195944803	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:195944803G>A	ENST00000296327.5	+	2	338	c.129G>A	c.(127-129)ctG>ctA	p.L43L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		CCCAACTCCTGAGAGGTGAGT	0.617000													4	14					0	0	0.000248	0	0
GALM	130589	broad.mit.edu	37	2	38903126	38903126	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:38903126T>A	ENST00000272252.5	+	2	515	c.263T>A	c.(262-264)tTc>tAc	p.F88Y	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	88					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AAAGGAACCTTCAAGGTGGAT	0.498000													19	71					0	0	0.001523	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925031	218925031	+	RNA	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:218925031A>C	ENST00000439871.1	-	0	1349					NR_002712.1																						GAAGGGAGGAACCCCACGGGA	0.552000													17	33					0	0	0.007413	0	0
ACSM1	116285	broad.mit.edu	37	16	20696537	20696537	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20696537C>T	ENST00000307493.4	-	2	448	c.381G>A	c.(379-381)gtG>gtA	p.V127V	ACSM1_ENST00000520010.1_Silent_p.V127V|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	127					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCCCACAGCCACCAGCCACC	0.577000													10	47					0	0	0.000673	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230469	140230469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140230469G>A	ENST00000378122.3	+	1	3113	c.2389G>A	c.(2389-2391)Ggg>Agg	p.G797R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G797R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTCAACTGGGAAGGTGGG	0.423000													48	26					0	0	0.003610	0	0
CCDC105	126402	broad.mit.edu	37	19	15131400	15131400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15131400C>T	ENST00000292574.3	+	3	885	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	268					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGAACCTCTCCCGAGCCCCC	0.592000													20	12					0	0	0.001523	0	0
MPP4	58538	broad.mit.edu	37	2	202545639	202545639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202545639G>A	ENST00000409474.3	-	10	1058	c.851C>T	c.(850-852)gCc>gTc	p.A284V	MPP4_ENST00000409143.1_Missense_Mutation_p.A257V|MPP4_ENST00000396886.3_Missense_Mutation_p.A240V|MPP4_ENST00000447335.2_Missense_Mutation_p.A284V|MPP4_ENST00000315506.7_Missense_Mutation_p.A271V|MPP4_ENST00000359962.5_Missense_Mutation_p.A284V|MPP4_ENST00000428900.2_Missense_Mutation_p.A284V	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	284	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CCACCAGAGGGCATCATTCTG	0.572000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0.001168	0	0
GK	2710	broad.mit.edu	37	X	30736685	30736685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:30736685C>T	ENST00000378943.3	+	13	1167	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	GK_ENST00000378945.3_Missense_Mutation_p.R330C|GK_ENST00000378946.3_Missense_Mutation_p.R336C|GK_ENST00000427190.1_Missense_Mutation_p.R131C|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TGCTGTTATTCGCTGGCTAAG	0.333000													4	11					0	0	0.001984	0	0
USP8	9101	broad.mit.edu	37	15	50782062	50782062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:50782062C>T	ENST00000433963.1	+	14	2455	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	USP8_ENST00000396444.3_Missense_Mutation_p.P652L|USP8_ENST00000307179.4_Missense_Mutation_p.P652L|USP8_ENST00000425032.3_Missense_Mutation_p.P546L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	652					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCAGGACTGCCTTCAGGCTGG	0.343000													18	53					0	0	0.005443	0	0
GRIK2	2898	broad.mit.edu	37	6	102074294	102074294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:102074294G>A	ENST00000369138.1	+	3	813	c.323G>A	c.(322-324)gGg>gAg	p.G108E	GRIK2_ENST00000369134.4_Missense_Mutation_p.G59E|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108E|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108E|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108E|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108E|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108E	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	108					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCCATCTTCGGGCCTTCACAC	0.537000													113	36					0	0	0.003610	0	0
RCC1	1104	broad.mit.edu	37	1	28861846	28861846	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:28861846C>T	ENST00000373833.6	+	9	900	c.615C>T	c.(613-615)ggC>ggT	p.G205G	RCC1_ENST00000373831.3_Silent_p.G236G|RCC1_ENST00000373832.1_Silent_p.G205G|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Silent_p.G205G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	205					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCTAGGCCGTGTGCCTG	0.587000													16	24					0	0	0.006122	0	0
ATAD3B	83858	broad.mit.edu	37	1	1430980	1430980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1430980C>T	ENST00000308647.7	+	16	1846	c.1730C>T	c.(1729-1731)cCt>cTt	p.P577L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	577							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGGAGGGGCCTGGGCGCGGG	0.672000													25	10					0	0	0.003330	0	0
GJA10	84694	broad.mit.edu	37	6	90604271	90604271	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:90604271C>T	ENST00000369352.1	+	1	84	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	28					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGCTGACCATCCTCTTCATCT	0.512000													32	14					0	0	0.002445	0	0
RABL6	55684	broad.mit.edu	37	9	139733691	139733691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139733691C>T	ENST00000371675.3	+	12	2051	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	RABL6_ENST00000371663.4_Missense_Mutation_p.S505L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.S504L|RABL6_ENST00000432842.2_Intron					RAB, member RAS oncogene family-like 6																		ATACCAGCTTCGAAGCCACGG	0.672000													6	4					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9070500	9070500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9070500G>A	ENST00000397910.4	-	3	17149	c.16946C>T	c.(16945-16947)tCa>tTa	p.S5649L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5651	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCTCTGGTGATGTGGAGGA	0.522000													7	22					0	0	0.003080	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59983018	59983018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:59983018G>A	ENST00000265036.5	-	2	152	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.P2S|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.P29S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	29	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCCGTAACGGCATCTTAGCA	0.443000													18	100					0	0	0.001882	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579502	44579502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44579502G>A	ENST00000289547.4	-	2	549	c.494C>T	c.(493-495)gCc>gTc	p.A165V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A165V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A165V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A165V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	165					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTCTGCTCGGCAAAGCTATG	0.602000													48	24					0	0	0.003610	0	0
PIGC	5279	broad.mit.edu	37	1	172411146	172411146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172411146G>A	ENST00000367728.1	-	1	2080	c.617C>T	c.(616-618)gCc>gTc	p.A206V	PIGC_ENST00000258324.1_Missense_Mutation_p.A206V|PIGC_ENST00000344529.4_Missense_Mutation_p.A206V|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	206					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AATCTGAATGGCAAATGTCAC	0.498000													14	78					0	0	0.004007	0	0
MCU	90550	broad.mit.edu	37	10	74620224	74620224	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:74620224C>T	ENST00000536019.1	+	4	733	c.288C>T	c.(286-288)ctC>ctT	p.L96L	MCU_ENST00000357157.6_Silent_p.L145L|MCU_ENST00000373053.3_Silent_p.L145L	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	145					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACCTCCTCCTCCTTGATGACT	0.398000													23	67					0	0	0.004656	0	0
KIF3B	9371	broad.mit.edu	37	20	30919041	30919041	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30919041G>A	ENST00000375712.3	+	9	2330	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	KIF3B_ENST00000418717.2_Silent_p.R347R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	721	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAGTGGAAGGAAGTCGGGAT	0.483000													53	80					0	0	0.003610	0	0
FHDC1	85462	broad.mit.edu	37	4	153897073	153897073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:153897073C>T	ENST00000511601.1	+	12	2818	c.2630C>T	c.(2629-2631)cCc>cTc	p.P877L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P877L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	877					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCTCCAAGCCCGGGAGCGCC	0.642000													31	53					0	0	0.001512	0	0
ADD2	119	broad.mit.edu	37	2	70931543	70931543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:70931543C>T	ENST00000264436.3	-	4	676	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	ADD2_ENST00000430656.1_Missense_Mutation_p.G94R|ADD2_ENST00000413157.2_Missense_Mutation_p.G78R|ADD2_ENST00000407644.2_Missense_Mutation_p.G78R|ADD2_ENST00000355733.3_Missense_Mutation_p.G78R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	78					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GAGTTGTTCCCCTTCTTCATC	0.597000													21	36					0	0	0.002299	0	0
CELSR2	1952	broad.mit.edu	37	1	109794877	109794877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109794877C>T	ENST00000271332.3	+	1	2237	c.2176C>T	c.(2176-2178)Ccg>Tcg	p.P726S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	726	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAGGACCGGCCGGCAGGCAC	0.577000													82	175					0	0	0.003610	0	0
CRTAM	56253	broad.mit.edu	37	11	122738726	122738726	+	Missense_Mutation	SNP	G	G	A	rs148256561		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:122738726G>A	ENST00000227348.4	+	9	1017	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	CRTAM_ENST00000533709.1_Missense_Mutation_p.E125K	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	324					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.E324K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGTAGAAAACGAAGTTTCAGA	0.323000													14	11					0	0	0.004990	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587465	111587465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:111587465C>T	ENST00000368847.4	+	4	1053	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	234					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TCTTTGTCTCCTTTTTCTGTT	0.378000													31	7					0	0	0.002445	0	0
GOLGB1	2804	broad.mit.edu	37	3	121437283	121437283	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121437283G>A	ENST00000393667.3	-	8	947	c.837C>T	c.(835-837)gtC>gtT	p.V279V	GOLGB1_ENST00000340645.5_Silent_p.V274V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	274					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAAGTCAACGACCTGAGCAC	0.458000													37	53					0	0	0.003214	0	0
VWA7	80737	broad.mit.edu	37	6	31744007	31744007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31744007G>A	ENST00000375686.3	-	3	484	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	VWA7_ENST00000447450.1_Missense_Mutation_p.L83F|VWA7_ENST00000375688.4_Missense_Mutation_p.L83F|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	83						extracellular region											TCATCAGCAAGGAGTGTTCGA	0.582000													247	171					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175324761	175324761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175324761G>A	ENST00000367674.1	-	17	3835	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	TNR_ENST00000263525.2_Missense_Mutation_p.P1043S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1043	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTTGCCGGAGGGTCCAGGACT	0.542000													20	59					0	0	0.001523	0	0
FAM47C	442444	broad.mit.edu	37	X	37026576	37026576	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642000													5	16					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126389779	126389779	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:126389779G>A	ENST00000394329.3	+	11	12025	c.12012G>A	c.(12010-12012)acG>acA	p.T4004T	FAT4_ENST00000335110.5_Silent_p.T2267T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4004	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T4004T(1)|p.T3969T(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTTGCCACGATTAAAAGTC	0.398000													9	23					0	0	0.004482	0	0
CDHR2	54825	broad.mit.edu	37	5	176011703	176011703	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176011703C>T	ENST00000510636.1	+	19	2695	c.2421C>T	c.(2419-2421)acC>acT	p.T807T	CDHR2_ENST00000506348.1_Silent_p.T807T|CDHR2_ENST00000261944.5_Silent_p.T807T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	807	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCCCCCCACCCTGGATGTAG	0.597000													20	117					0	0	0.001523	0	0
MUC3A	4584	broad.mit.edu	37	7	100549542	100549542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100549542C>T	ENST00000379458.4	+	2	123	c.123C>T	c.(121-123)agC>agT	p.41_41insS	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAGCAGCCAGCGCTGTGCTCA	0.582000													20	177					0	0	0.001523	0	0
PSG5	5673	broad.mit.edu	37	19	43680064	43680064	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43680064C>A	ENST00000404580.1	-	3	755	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	PSG5_ENST00000407356.1_Missense_Mutation_p.D223Y|PSG5_ENST00000599812.1_Missense_Mutation_p.D316Y|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.D223Y|PSG5_ENST00000342951.6_Missense_Mutation_p.D223Y			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	223	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATGCCACCATCTCGGTCCCGT	0.493000													74	71					2.01383e-38	3.29087e-38	0.003610	1	0
FBXO24	26261	broad.mit.edu	37	7	100193253	100193253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100193253G>A	ENST00000241071.6	+	8	1452	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Missense_Mutation_p.R365Q|FBXO24_ENST00000427939.2_Missense_Mutation_p.R415Q	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	377						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAATTTGGCCGAATCTTCATG	0.502000													116	11					0	0	0.003610	0	0
NFIX	4784	broad.mit.edu	37	19	13201181	13201181	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13201181C>T	ENST00000358552.3	+	8	1345	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	NFIX_ENST00000397661.2_Silent_p.F441F|NFIX_ENST00000585575.1_Silent_p.L483L|NFIX_ENST00000360105.4_Silent_p.F403F|NFIX_ENST00000587760.1_Silent_p.F433F|NFIX_ENST00000587260.1_Silent_p.F440F|NFIX_ENST00000592199.1_Silent_p.L491L|NFIX_ENST00000588228.1_Silent_p.L444L			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	491					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGGCAACTTTCTGAACATCCC	0.622000													23	85					0	0	0.001512	0	0
ADAM21	8747	broad.mit.edu	37	14	70924528	70924528	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:70924528C>T	ENST00000603540.1	+	2	570	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ADAM21_ENST00000267499.3_Silent_p.F104F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	104					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATCAGCTCTTCATCCCAGATG	0.478000													5	32					0	0	0.001168	0	0
PLD5	200150	broad.mit.edu	37	1	242383300	242383300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:242383300G>A	ENST00000442594.2	-	6	958	c.449C>T	c.(448-450)tCc>tTc	p.S150F	PLD5_ENST00000536534.1_Missense_Mutation_p.S242F|PLD5_ENST00000427495.1_Missense_Mutation_p.S180F	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	242						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGTCCCAGGGATTGCCAGTC	0.498000													18	27					0	0	0.006122	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100920	27100920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27100920C>T	ENST00000359193.2	+	1	89	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	24					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TAGGGCCGGTCTCCAGTTCCC	0.657000													16	61					0	0	0.006122	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42265791C>T	ENST00000373030.3	+	12	1148	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_ENST00000373039.4_Missense_Mutation_p.P340S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000													50	49					0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29556419	29556419	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:29556419T>C	ENST00000358273.4	+	21	3169	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	NF1_ENST00000356175.3_Missense_Mutation_p.L929P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	929					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGTCCTGCTCTGTATCCAATG	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			57	41					0	0	0.003610	0	0
PHF19	26147	broad.mit.edu	37	9	123620471	123620471	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:123620471G>A	ENST00000373896.3	-	15	1746	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	PHF19_ENST00000419155.1_Silent_p.C289C|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTCCGAGGGGCAGCGTCCAT	0.607000													14	29					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13865925	13865925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13865925G>A	ENST00000265104.4	-	27	4311	c.4207C>T	c.(4207-4209)Ctt>Ttt	p.L1403F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1403	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTATTTCAAGAAGCTGAGGA	0.328000									Kartagener syndrome				42	21					0	0	0.003214	0	0
ZNF235	9310	broad.mit.edu	37	19	44793050	44793050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44793050G>A	ENST00000291182.4	-	5	640	c.538C>T	c.(538-540)Ccg>Tcg	p.P180S	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAAGAATTCGGAACTTTCCCA	0.348000													10	55					0	0	0.006214	0	0
KCNA6	3742	broad.mit.edu	37	12	4920712	4920712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920712C>T	ENST00000433855.1	+	1	2371	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	KCNA6_ENST00000280684.3_Missense_Mutation_p.P502L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	502						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCTGACTTCCCCGAGGCTAAC	0.607000										HNSCC(72;0.22)			28	15					0	0	0.001512	0	0
DIP2C	22982	broad.mit.edu	37	10	465054	465054	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:465054G>A	ENST00000280886.6	-	6	777	c.690C>T	c.(688-690)tcC>tcT	p.S230S	DIP2C_ENST00000381496.3_Silent_p.S123S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	230						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCTGTCCGGGACCCCGTGG	0.542000													14	13					0	0	0.003163	0	0
DLGAP4	22839	broad.mit.edu	37	20	35125333	35125333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:35125333G>A	ENST00000373913.3	+	8	2354	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G625E|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G625E|DLGAP4_ENST00000340491.4_Missense_Mutation_p.G86E|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G625E|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	625					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACACGGGGTGGAGTCGCCCCA	0.652000													15	43					0	0	0.002450	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580830	140580830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140580830G>A	ENST00000354757.3	+	1	1483	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D130N	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCCCCAGGACCTGCACCT	0.637000													75	115					0	0	0.003610	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527671	65527671	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:65527671G>A	ENST00000310193.3	-	4	1142	c.969C>T	c.(967-969)gaC>gaT	p.D323D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	323					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GCAGCAAACGGTCAATTTCGT	0.468000													19	29					0	0	0.001523	0	0
OR14A16	284532	broad.mit.edu	37	1	247978180	247978180	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247978180G>A	ENST00000357627.1	-	1	851	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGTATATAATGGGATTAAAGG	0.408000													8	27					0	0	0.006214	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768752	51768752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51768752G>A	ENST00000316401.7	+	3	534	c.153G>A	c.(151-153)atG>atA	p.M51I	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TGGATGGCATGGATGGCAGCC	0.572000													15	33					0	0	0.002450	0	0
C18orf25	147339	broad.mit.edu	37	18	43820095	43820095	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:43820095G>A	ENST00000282059.6	+	3	1214	c.840G>A	c.(838-840)caG>caA	p.Q280Q	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	280										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TAGGCGGCCAGGACACAGGAG	0.512000													17	50					0	0	0.007413	0	0
ISX	91464	broad.mit.edu	37	22	35480387	35480387	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:35480387G>A	ENST00000308700.6	+	3	1345	c.393G>A	c.(391-393)caG>caA	p.Q131Q	ISX_ENST00000404699.2_Silent_p.Q131Q	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TCTGGTTCCAGAATCAGCGAG	0.512000													16	50					0	0	0.004990	0	0
VENTX	27287	broad.mit.edu	37	10	135053636	135053636	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135053636C>T	ENST00000325980.9	+	3	1114	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	201					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCCTGGCTCCTTCTGGGGTC	0.677000													8	14					0	0	0.003080	0	0
DGKK	139189	broad.mit.edu	37	X	50114815	50114815	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50114815C>T	ENST00000376025.2	-	0	3578							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGCAGTCTCATCCTCAGCA	0.468000													11	1					0	0	0.001368	0	0
NME8	51314	broad.mit.edu	37	7	37927900	37927900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:37927900G>A	ENST00000199447.4	+	15	1641	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	NME8_ENST00000440017.1_Missense_Mutation_p.M423I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	423	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTTTGCGATGGACAGTTTGC	0.363000													30	78					0	0	0.005524	0	0
TCF21	6943	broad.mit.edu	37	6	134210675	134210675	+	Missense_Mutation	SNP	G	G	A	rs144842546		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:134210675G>A	ENST00000367882.4	+	1	400	c.140G>A	c.(139-141)gGg>gAg	p.G47E	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G47E	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	47					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGCGAGAATGGGTCTCCCCAG	0.602000													11	8					0	0	0.000978	0	0
SPCS2	9789	broad.mit.edu	37	11	74676882	74676882	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:74676882C>T	ENST00000263672.6	+	3	312	c.273C>T	c.(271-273)tcC>tcT	p.S91S	SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	91					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						GTACAATCTCCTGTTTCTTTG	0.393000													36	94					0	0	0.006999	0	0
ACOT1	641371	broad.mit.edu	37	14	74008211	74008211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74008211C>T	ENST00000311148.4	+	2	780	c.472C>T	c.(472-474)Cct>Tct	p.P158S	ACOT1_ENST00000557556.1_Missense_Mutation_p.P158S|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TGGGCCCTTTCCTGGCATTGT	0.468000													53	23					0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154394966	154394966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154394966C>T	ENST00000435029.4	+	1	1707	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	516					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCAGCATGCTCTCCATCAA	0.493000													36	46					0	0	0.006230	0	0
FAM83F	113828	broad.mit.edu	37	22	40417373	40417373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40417373G>A	ENST00000333407.5	+	4	953	c.859G>A	c.(859-861)Gag>Aag	p.E287K	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	287										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTTTGACACGGAGTTCCGGGA	0.602000													149	14					0	0	0.003610	0	0
MAPK13	5603	broad.mit.edu	37	6	36106167	36106167	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:36106167G>A	ENST00000211287.4	+	9	970	c.708G>A	c.(706-708)ctG>ctA	p.L236L	MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Silent_p.L226L|MAPK13_ENST00000373759.1_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	236	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCCAGATCCTGAAAGTGACCG	0.602000													28	2					0	0	0.002445	0	0
MAGI1	9223	broad.mit.edu	37	3	65365004	65365004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:65365004C>T	ENST00000330909.8	-	18	3010	c.3011G>A	c.(3010-3012)gGg>gAg	p.G1004E	MAGI1_ENST00000402939.2_Missense_Mutation_p.G976E|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1004E|MAGI1_ENST00000497477.2_Missense_Mutation_p.G976E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1004	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGTTCTCCCCGCGCCGGAT	0.672000													4	12					0	0	0.000248	0	0
MYH13	8735	broad.mit.edu	37	17	10247364	10247364	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10247364G>A	ENST00000418404.3	-	15	1810	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	MYH13_ENST00000252172.4_Silent_p.S549S|MYH13_ENST00000570743.1_Silent_p.S549S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	549	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTTCTTGAAGGAGGTGTCTG	0.498000													61	45					0	0	0.003610	0	0
DOCK9	23348	broad.mit.edu	37	13	99515687	99515687	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:99515687G>A	ENST00000376460.1	-	31	3482	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I	DOCK9_ENST00000339416.2_Silent_p.I1135I|DOCK9_ENST00000442173.1_Silent_p.I1134I|DOCK9_ENST00000448493.2_Silent_p.I1146I|DOCK9_ENST00000461998.1_5'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1135					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTGATGGCGATCAGACGGA	0.493000													23	53					0	0	0.006320	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408918	79408918	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79408918C>T	ENST00000307745.7	+	9	543	c.543C>T	c.(541-543)ttC>ttT	p.F181F																								ACCACAACTTCCCCAGCGTGG	0.677000													24	92					0	0	0.006320	0	0
CCDC171	203238	broad.mit.edu	37	9	15578922	15578922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:15578922G>A	ENST00000380701.3	+	4	581	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CCDC171_ENST00000535968.1_Missense_Mutation_p.E85K|CCDC171_ENST00000297641.3_Missense_Mutation_p.E85K	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	85																	ACAAAGTCTGGAATATGACCT	0.473000													14	16					0	0	0.002450	0	0
TLE6	79816	broad.mit.edu	37	19	2991957	2991957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2991957C>T	ENST00000246112.4	+	14	1562	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L	TLE6_ENST00000452088.1_Missense_Mutation_p.P331L	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	331					regulation of transcription, DNA-dependent	nucleus		p.P331H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCATGAAACCTCTGGAGTAC	0.567000													18	30					0	0	0.007413	0	0
DNMBP	23268	broad.mit.edu	37	10	101731860	101731860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101731860G>A	ENST00000342239.3	-	2	113	c.22C>T	c.(22-24)Cga>Tga	p.R8*	DNMBP_ENST00000324109.4_Nonsense_Mutation_p.R8*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	8	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAATGGCTCGAACCACTGAG	0.403000													37	84					0	0	0.004289	0	0
KAZN	23254	broad.mit.edu	37	1	15370527	15370527	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15370527C>T	ENST00000376030.2	+	4	892	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	KAZN_ENST00000503743.1_Silent_p.L200L|KAZN_ENST00000400797.3_Silent_p.L106L|KAZN_ENST00000422387.2_Silent_p.L200L|KAZN_ENST00000400798.2_Silent_p.L106L|KAZN_ENST00000361144.5_Silent_p.L194L	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	200	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGAGAAGGACCTGCTGGAGCG	0.657000													22	14					0	0	0.002780	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474497	140474497	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140474497G>A	ENST00000194155.4	+	1	271	c.123G>A	c.(121-123)acG>acA	p.T41T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGGAAACGGAGAGTGGCT	0.507000													11	57					0	0	0.001368	0	0
MSI1	4440	broad.mit.edu	37	12	120784124	120784124	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:120784124G>A	ENST00000257552.2	-	13	949	c.859_splice	c.e13-1	p.G287_splice		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	287					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGTGAGAGCCTGGCAACC	0.687000													5	1					0	0	0.001168	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660772	8660772	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8660772G>A	ENST00000270328.4	-	11	1619	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ADAMTS10_ENST00000597188.1_Silent_p.L451L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	451	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTTCAGGCAGAGCCCCAGGC	0.607000													41	92					0	0	0.006999	0	0
KDM2B	84678	broad.mit.edu	37	12	121877844	121877844	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121877844G>A	ENST00000377069.4	-	21	3844	c.3438C>T	c.(3436-3438)atC>atT	p.I1146I	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.I1215I|KDM2B_ENST00000542973.1_Silent_p.I583I	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1215					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGCTCCACGATGTTCCGGA	0.612000													5	7					0	0	0.000602	0	0
OPALIN	93377	broad.mit.edu	37	10	98108077	98108077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98108077G>A	ENST00000419479.1	-	6	695	c.188C>T	c.(187-189)tCa>tTa	p.S63L	OPALIN_ENST00000393871.1_Missense_Mutation_p.S50L|OPALIN_ENST00000371172.3_Missense_Mutation_p.S73L|OPALIN_ENST00000393870.2_Missense_Mutation_p.S62L|OPALIN_ENST00000536387.1_Missense_Mutation_p.S63L	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	73						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						ATCAATTTCTGAAATTTCACA	0.323000													12	34					0	0	0.001855	0	0
ASIC4	55515	broad.mit.edu	37	2	220379729	220379729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220379729C>T	ENST00000358078.4	+	1	678	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ASIC4_ENST00000347842.3_Missense_Mutation_p.R222W|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	222						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTACCTGACCCGGCCTCACCT	0.692000													10	11					0	0	0.000673	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121090	114121090	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:114121090G>T	ENST00000335953.4	+	7	2215	c.1835G>T	c.(1834-1836)cGg>cTg	p.R612L	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612L|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAGCGCTCCCGGGACTACTCG	0.617000													19	16					1.64293e-13	2.66972e-13	0.003330	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930472	68930472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:68930472C>T	ENST00000356291.2	-	8	1005	c.946G>A	c.(946-948)Gac>Aac	p.D316N	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	316	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATAGATGAGTCTGGGAGGCAA	0.388000													14	22					0	0	0.004007	0	0
MTHFSD	64779	broad.mit.edu	37	16	86585798	86585798	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:86585798A>C	ENST00000381214.5	-	3	242	c.224T>G	c.(223-225)tTc>tGc	p.F75C	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.F74C|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000360900.6_Intron	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	75					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AAGGACGAAGAAGCGAGCACT	0.498000													24	22					0	0	0.002299	0	0
RANBP2	5903	broad.mit.edu	37	2	109383182	109383182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:109383182C>T	ENST00000283195.6	+	20	6313	c.6187C>T	c.(6187-6189)Ctc>Ttc	p.L2063F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2063	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTAAAAATTCTCAAAAACGA	0.383000													139	320					0	0	0.003610	0	0
FBRS	64319	broad.mit.edu	37	16	30680858	30680858	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30680858C>T	ENST00000356166.6	+	18	3923	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	FBRS_ENST00000287468.5_Silent_p.L425L|FBRS_ENST00000395073.2_Silent_p.L337L|FBRS_ENST00000568722.1_Silent_p.L337L			Q9HAH7	FBRS_HUMAN	fibrosin	425										ovary(1)	1			Colorectal(24;0.103)			CTCACCTTCTCAGCAAGACCC	0.706000													97	96					0	0	0.003610	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140745253C>T	ENST00000518069.1	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAATTTCCCTCAAGCCT	0.522000													27	138					0	0	0.005443	0	0
CA12	771	broad.mit.edu	37	15	63638846	63638846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:63638846G>A	ENST00000178638.3	-	3	609	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	CA12_ENST00000344366.3_Missense_Mutation_p.P57S|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	57					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AGGTCTATGGGGGACTGCAGC	0.547000													41	60					0	0	0.001951	0	0
BICD1	636	broad.mit.edu	37	12	32481427	32481427	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32481427C>T	ENST00000548411.1	+	5	2219	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	BICD1_ENST00000281474.5_Silent_p.L680L	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	680	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCTAAAGTCCCTGCTGAGCAC	0.507000													18	60					0	0	0.006122	0	0
ZNF609	23060	broad.mit.edu	37	15	64967899	64967899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:64967899C>T	ENST00000326648.3	+	4	2974	c.2846C>T	c.(2845-2847)cCc>cTc	p.P949L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	949						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAAAGAAGCCCGAGCTGAGC	0.527000													72	68					0	0	0.003610	0	0
GDPD3	79153	broad.mit.edu	37	16	30122787	30122787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30122787G>A	ENST00000406256.3	-	7	1006	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	210	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CAGGTAGTAGGAAAGCAGCAC	0.567000													22	93					0	0	0.003954	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52912063	52912063	+	Missense_Mutation	SNP	A	A	G	rs1044615		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:52912063A>G	ENST00000371544.3	-	22	3827	c.3565T>C	c.(3565-3567)Tgg>Cgg	p.W1189R	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.W1189R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1189	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCCAGCCAAAGCTCCCCT	0.358000													12	31					0	0	0.002450	0	0
SFRP2	6423	broad.mit.edu	37	4	154702787	154702787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154702787G>A	ENST00000274063.4	-	3	988	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	235	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S235L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCACAGCACCGATTTCTTCAG	0.512000													20	56					0	0	0.007413	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984798	51984798	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51984798C>T	ENST00000396477.4	+	3	573	c.552C>T	c.(550-552)tcC>tcT	p.S184S	CEACAM18_ENST00000451626.1_Silent_p.S245S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	245						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGACAATTTCCCCAGACGGCA	0.488000													10	26					0	0	0.000978	0	0
BCL11B	64919	broad.mit.edu	37	14	99737530	99737530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:99737530G>A	ENST00000345514.2	-	1	292	c.26C>T	c.(25-27)cCg>cTg	p.P9L	BCL11B_ENST00000443726.2_Missense_Mutation_p.P9L|BCL11B_ENST00000357195.3_Missense_Mutation_p.P9L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAAGTGCTGCGGGTTGCCCTG	0.701000			T	TLX3	T-ALL								3	7					0	0	0.000248	0	0
TSKS	60385	broad.mit.edu	37	19	50250056	50250056	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50250056C>T	ENST00000246801.3	-	6	746		c.e6-1		TSKS_ENST00000358830.3_Splice_Site	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate								protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGCTTCTCCTGGGTGGTAA	0.647000													5	28					0	0	0.000602	0	0
OBSCN	84033	broad.mit.edu	37	1	228505743	228505743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228505743G>A	ENST00000570156.2	+	64	16945	c.16871G>A	c.(16870-16872)gGg>gAg	p.G5624E	OBSCN_ENST00000366707.4_Missense_Mutation_p.G2301E|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4667E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4667E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1786E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4667	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCGGTGGGCGGTTCGAG	0.627000													45	45					0	0	0.003610	0	0
NPY5R	4889	broad.mit.edu	37	4	164272238	164272238	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164272238C>T	ENST00000515560.1	+	4	2335	c.813C>T	c.(811-813)ctC>ctT	p.L271L	NPY5R_ENST00000338566.3_Silent_p.L271L|NPY5R_ENST00000506953.1_Silent_p.L271L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	271					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGGTGAAACTCTCTGGCAGCC	0.398000													37	19					0	0	0.005524	0	0
OR1J1	347168	broad.mit.edu	37	9	125240167	125240167	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125240167G>A	ENST00000259357.2	-	1	68	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCCCAGGAGGAGGAACTCGG	0.552000													40	49					0	0	0.001951	0	0
NACA	4666	broad.mit.edu	37	12	57112468	57112468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57112468G>A	ENST00000454682.1	-	3	3127	c.2846C>T	c.(2845-2847)tCc>tTc	p.S949F	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTTAGGGGAGGGAGGAGT	0.647000			T	BCL6	NHL								14	98					0	0	0.003163	0	0
REP15	387849	broad.mit.edu	37	12	27849684	27849684	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27849684C>T	ENST00000310791.2	+	1	257	c.189C>T	c.(187-189)ttC>ttT	p.F63F	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	63						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					TAATCCATTTCATCACTTTCT	0.453000													21	23					0	0	0.001523	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520449	33520449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:33520449G>A	ENST00000297307.5	-	1	963	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	293	DUF6 2.					integral to membrane											CAGTATAAGGGCCACAACCAC	0.577000													83	110					0	0	0.003610	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867865	57867865	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57867865C>A	ENST00000393797.2	-	19	2340	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	ARHGAP9_ENST00000356411.2_Silent_p.L645L|ARHGAP9_ENST00000550288.1_Silent_p.L705L|ARHGAP9_ENST00000393791.3_Silent_p.L626L|ARHGAP9_ENST00000430041.2_Silent_p.L442L|ARHGAP9_ENST00000424809.2_Silent_p.L626L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	645	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTGGTGGCACCAGAGGCTGGG	0.552000													5	62					0.000602214	0.000967026	0.000602	1	0
FAT3	120114	broad.mit.edu	37	11	92565004	92565004	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:92565004C>A	ENST00000298047.6	+	13	9715	c.9698C>A	c.(9697-9699)cCc>cAc	p.P3233H	FAT3_ENST00000409404.2_Missense_Mutation_p.P3233H|FAT3_ENST00000525166.1_Missense_Mutation_p.P3083H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3233	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATGACAACCCCCCTGTGTTT	0.557000										TCGA Ovarian(4;0.039)			9	314					0.000274275	0.000440745	0.004482	1	0
ALK	238	broad.mit.edu	37	2	29754793	29754793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29754793G>A	ENST00000389048.3	-	4	2048	c.1142C>T	c.(1141-1143)cCa>cTa	p.P381L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	381	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATGCTTCCCTGGAGTGGGCAT	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	18					0	0	0.007291	0	0
KCNT2	343450	broad.mit.edu	37	1	196300392	196300392	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196300392C>T	ENST00000367433.5	-	18	2099		c.e18-1		KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							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						TTTAGCATACCTGTAAAATAA	0.318000													54	204					0	0	0.003610	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597558	136597558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136597558C>T	ENST00000531224.1	-	5	1357	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	BCLAF1_ENST00000353331.4_Missense_Mutation_p.G367R|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G367R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G369R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G367R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	369					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCCCTCCCTTTCTCTGAT	0.428000													66	168					0	0	0.003610	0	0
PUF60	22827	broad.mit.edu	37	8	144900408	144900408	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144900408G>A	ENST00000526683.1	-	7	1113	c.558C>T	c.(556-558)gcC>gcT	p.A186A	PUF60_ENST00000349157.6_Silent_p.A169A|PUF60_ENST00000453551.2_Silent_p.A143A|PUF60_ENST00000313352.7_Silent_p.A126A|PUF60_ENST00000456095.2_Silent_p.A157A|PUF60_ENST00000527197.1_Silent_p.A140A|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	186	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCTCCAAGGCCAGCTGTG	0.657000													4	5					0	0	0.000602	0	0
ACBD7	414149	broad.mit.edu	37	10	15121003	15121003	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15121003G>A	ENST00000356189.5	-	2	96	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	17	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						CTTGCTTTCAGCTTCCTCACA	0.363000													25	45					0	0	0.006320	0	0
PCK1	5105	broad.mit.edu	37	20	56140548	56140548	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:56140548G>A	ENST00000319441.4	+	10	1721	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	PCK1_ENST00000543666.1_Silent_p.K202K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	519					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGTTCCGGAAGGACAAGGAAG	0.547000													20	48					0	0	0.001216	0	0
NFU1	27247	broad.mit.edu	37	2	69650762	69650762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69650762G>A	ENST00000410022.2	-	3	459	c.254C>T	c.(253-255)aCc>aTc	p.T85I	NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.T61I	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	85					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AAAATCCATGGTCCTTGTCTC	0.373000													7	26					0	0	0.006214	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330638	42330638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42330638C>T	ENST00000262418.6	-	17	2314	c.2159G>A	c.(2158-2160)gGg>gAg	p.G720E		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	720	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGGGCATCCCAAAGAGGGC	0.637000													22	29					0	0	0.001523	0	0
MTR	4548	broad.mit.edu	37	1	237054611	237054611	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237054611C>T	ENST00000366577.5	+	29	3580	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F	MTR_ENST00000535889.1_Silent_p.F1011F	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1062	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TAGCCACCTTCTATGGGTTAA	0.527000													60	30					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26423526	26423526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26423526G>A	ENST00000335473.7	+	43	7836	c.7586G>A	c.(7585-7587)gGa>gAa	p.G2529E	MYO18B_ENST00000536101.1_Missense_Mutation_p.G2529E|MYO18B_ENST00000407587.2_Missense_Mutation_p.G2530E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2529						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCGACCAGGAATCCCACGA	0.602000													37	4					0	0	0.003214	0	0
POM121	9883	broad.mit.edu	37	7	72413956	72413956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72413956C>T	ENST00000395270.1	+	14	3670	c.2629C>T	c.(2629-2631)Ccc>Tcc	p.P877S	POM121_ENST00000434423.2_Missense_Mutation_p.P1142S|POM121_ENST00000446813.1_Missense_Mutation_p.P877S|POM121_ENST00000257622.4_Missense_Mutation_p.P877S|POM121_ENST00000358357.3_Missense_Mutation_p.P877S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1142	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				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)				CACCTCCACCCCCTTCGCAGG	0.612000													18	37					0	0	0.007291	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405054	61405054	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61405054C>T	ENST00000496593.1	+	0	1658					NR_002775.2																						AGGATGAAGCCAAGGAAGAGT	0.537000													15	16					0	0	0.004990	0	0
BMPER	168667	broad.mit.edu	37	7	34091542	34091542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:34091542C>T	ENST00000297161.2	+	9	1120	c.746C>T	c.(745-747)tCc>tTc	p.S249F	BMPER_ENST00000426693.1_Missense_Mutation_p.S249F|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	249	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GACAATGGATCCTCATTTCTG	0.463000													134	102					0	0	0.003610	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206972	29206972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29206972G>A	ENST00000306851.5	-	7	1185	c.889C>T	c.(889-891)Ctt>Ttt	p.L297F	B4GALT6_ENST00000237019.7_Missense_Mutation_p.L258F|B4GALT6_ENST00000383131.3_Missense_Mutation_p.L258F	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	297					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTGTTCCAAAGGTCATCATCT	0.348000													12	50					0	0	0.002450	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732960	30732960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:30732960C>T	ENST00000295754.5	+	7	1955	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.P550S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	525	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGACCACGACCCAGAGGCCCG	0.607000													13	36					0	0	0.002450	0	0
CEBPE	1053	broad.mit.edu	37	14	23588290	23588290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23588290C>T	ENST00000206513.5	-	1	535	c.11G>A	c.(10-12)gGg>gAg	p.G4E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GTAGTAGGTCCCGTGGGACAT	0.701000													6	7					0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38674777	38674777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38674777G>A	ENST00000413689.1	-	2	215	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	SCN5A_ENST00000449557.2_Missense_Mutation_p.R8W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R8W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R8W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R8W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R8W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R8W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R8W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R8W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R8W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	8					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGTGCCCCGAGGTAATAGG	0.592000													13	23					0	0	0.006122	0	0
MED13	9969	broad.mit.edu	37	17	60106997	60106997	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60106997A>G	ENST00000397786.2	-	8	1264	c.1188T>C	c.(1186-1188)gcT>gcC	p.A396A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	396					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACCTGATGAAGCAGAATACT	0.338000													19	41					0	0	0.001523	0	0
MYO18A	399687	broad.mit.edu	37	17	27419908	27419908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27419908G>A	ENST00000527372.1	-	33	5218	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S	MYO18A_ENST00000354329.4_Missense_Mutation_p.P1680S|MYO18A_ENST00000531253.1_Missense_Mutation_p.P1680S|MYO18A_ENST00000533112.1_Missense_Mutation_p.P1643S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1680					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGCTTGCTGGGAGCACTGTTC	0.562000													27	103					0	0	0.001512	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6263963	6263963	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6263963C>A	ENST00000400104.3	-	5	402	c.202G>T	c.(202-204)Gtt>Ttt	p.V68F	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V68F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V68F|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V68F			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	68					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AACAGCTCAACAGGTGCTGCG	0.443000													54	12					3.37043e-27	5.50099e-27	0.003610	1	0
NACA	4666	broad.mit.edu	37	12	57112564	57112564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57112564G>A	ENST00000454682.1	-	3	3031	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTTGGGGGAGGAAGAAGT	0.607000			T	BCL6	NHL								9	84					0	0	0.006214	0	0
DCC	1630	broad.mit.edu	37	18	50961561	50961561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50961561G>A	ENST00000442544.2	+	22	3827	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	DCC_ENST00000581580.1_Missense_Mutation_p.D706N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1071					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAATTTGATTGATAGAAGCAC	0.328000													69	165					0	0	0.003610	0	0
ZNF786	136051	broad.mit.edu	37	7	148768946	148768946	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148768946G>T	ENST00000316286.9	-	3	932	c.660C>A	c.(658-660)ctC>ctA	p.L220L	ZNF786_ENST00000491431.1_Silent_p.L306L|ZNF786_ENST00000451334.3_Silent_p.L269L			Q8N393	ZN786_HUMAN	zinc finger protein 786	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTCCACTGGGAGGGAGCGCT	0.701000													8	29					0.000673444	0.00108114	0.000673	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173679042	173679042	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:173679042G>A	ENST00000264111.6	+	4	520	c.333G>A	c.(331-333)acG>acA	p.T111T	RAPGEF4_ENST00000397081.3_Silent_p.T111T|RAPGEF4_ENST00000409036.1_Silent_p.T111T			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	111					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GAATTGGGACGGCCTTTGGAG	0.483000													26	39					0	0	0.001786	0	0
NEK10	152110	broad.mit.edu	37	3	27393991	27393991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:27393991G>A	ENST00000429845.2	-	4	459	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	NEK10_ENST00000341435.5_Missense_Mutation_p.R33W			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	33							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAAGGCACCGAAGTCTTTTA	0.413000													33	25					0	0	0.002836	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079196	15079196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15079196C>T	ENST00000598504.1	-	6	1826	c.467G>A	c.(466-468)gGg>gAg	p.G156E	SLC1A6_ENST00000600144.1_Missense_Mutation_p.G156E|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G156E|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G156E	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	156					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGAGCCCTTCCCGGGATGGAT	0.607000													15	10					0	0	0.004990	0	0
NPY4R	5540	broad.mit.edu	37	10	47087258	47087258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:47087258G>A	ENST00000374312.1	+	3	894	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	NPY4R_ENST00000395716.1_Missense_Mutation_p.G159R	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GGCCTACCTGGGGATTGTGCT	0.582000													21	146					0	0	0.001523	0	0
WWTR1	25937	broad.mit.edu	37	3	149260244	149260244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:149260244C>T	ENST00000465804.1	-	5	905	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	WWTR1_ENST00000467467.1_Missense_Mutation_p.G217R|WWTR1_ENST00000360632.3_Missense_Mutation_p.G217R	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	217	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTCATGAGCCCTGCGGGTGGG	0.557000			T	CAMTA1	epitheliod hemangioendothelioma								10	46					0	0	0.000978	0	0
PRR5	55615	broad.mit.edu	37	22	45133024	45133024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:45133024C>T	ENST00000403581.1	+	10	1742	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.S355F|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		ATCCTGGAGTCCGTGGACTCG	0.662000													18	94					0	0	0.006122	0	0
GSTK1	373156	broad.mit.edu	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142960620C>T	ENST00000479303.1	+	1	72	c.14C>T	c.(13-15)cCg>cTg	p.P5L	GSTK1_ENST00000358406.5_Missense_Mutation_p.P5L|GSTK1_ENST00000409500.3_Missense_Mutation_p.P5L|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5L	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	5						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	p.P5Q(2)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677000													31	98					0	0	0.004289	0	0
DSCAM	1826	broad.mit.edu	37	21	41447141	41447141	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41447141C>T	ENST00000400454.1	-	27	5189		c.e27-1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAATTGTACCTGAAAGCAGG	0.498000													10	38					0	0	0.000978	0	0
ZAN	7455	broad.mit.edu	37	7	100346084	100346084	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100346084C>T	ENST00000542585.1	+	0	1388				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGAGGTTTCCCTAATGCAGG	0.582000													18	2					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9089642	9089642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9089642G>A	ENST00000397910.4	-	1	2376	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	725	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAACAGAGGAATGCTGGTG	0.498000													22	63					0	0	0.001882	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421163	55421163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55421163G>A	ENST00000242994.3	+	2	1318	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	314					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CATGTCCTATGATTCCTACCC	0.453000													103	1286					0	0	0.003610	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744114	31744114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31744114G>A	ENST00000399889.2	-	1	443	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	140						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCATAGCCGAGGGAAGGGAAG	0.572000													11	21					0	0	0.001855	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260607	42260607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42260607C>T	ENST00000199764.6	+	2	382	c.164C>T	c.(163-165)gCc>gTc	p.A55V	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	55	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCTACTCGCCCACAACCTG	0.493000													40	99					0	0	0.006999	0	0
HCN1	348980	broad.mit.edu	37	5	45396809	45396809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:45396809C>T	ENST00000303230.4	-	4	1072	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	339						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D339N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCCCAAGAATCATTCTGCAAC	0.418000													14	62					0	0	0.003163	0	0
DDI1	414301	broad.mit.edu	37	11	103908311	103908311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:103908311C>T	ENST00000302259.3	+	1	1004	c.761C>T	c.(760-762)cCt>cTt	p.P254L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	254					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AATGGGCATCCTTTGAAGGCT	0.493000													65	62					0	0	0.003610	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623646	74623646	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74623646T>G	ENST00000156626.7	-	3	1050	c.851A>C	c.(850-852)aAg>aCg	p.K284T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	284					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGCTTTGATCTTCACAGAGTC	0.562000													50	52					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10305102	10305102	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10305102C>T	ENST00000403437.2	-	23	2783	c.2688_splice	c.e23-1	p.E897_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	897					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTATCTGCTTCCTATGGAGAG	0.358000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				88	49					0	0	0.003610	0	0
ZNF343	79175	broad.mit.edu	37	20	2473352	2473352	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:2473352G>A	ENST00000278772.4	-	5	784	c.297C>T	c.(295-297)ctC>ctT	p.L99L	RP4-734P14.4_ENST00000461548.1_Silent_p.L99L|ZNF343_ENST00000358413.2_Silent_p.L99L|ZNF343_ENST00000381253.1_Silent_p.L99L	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TACCCAATGAGAGAAGATTCC	0.378000													22	14					0	0	0.001882	0	0
WWC2	80014	broad.mit.edu	37	4	184166646	184166646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:184166646C>T	ENST00000403733.3	+	6	879	c.680C>T	c.(679-681)tCt>tTt	p.S227F	WWC2_ENST00000378925.3_Missense_Mutation_p.S129F|WWC2_ENST00000504005.1_Intron|WWC2_ENST00000513834.1_Missense_Mutation_p.S227F|WWC2_ENST00000448232.2_Missense_Mutation_p.S227F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	227								p.S227F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAACTAAAATCTATCAGAAAG	0.368000													16	14					0	0	0.004007	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561573	127561573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127561573G>A	ENST00000373580.3	+	4	472	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	158										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGCATCAAGGCCAACCTGAG	0.587000													20	21					0	0	0.003954	0	0
ADCY9	115	broad.mit.edu	37	16	4027629	4027629	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4027629G>A	ENST00000294016.3	-	9	3220	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	894					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACACTGGGAACTGCAAGA	0.617000													10	13					0	0	0.000978	0	0
NGF	4803	broad.mit.edu	37	1	115828696	115828696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:115828696C>T	ENST00000369512.2	-	3	889	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	241					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCAGGTCAGGCTCTTCTCACA	0.552000													15	34					0	0	0.004007	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359717	48359717	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48359717C>T	ENST00000429772.2	+	4	461	c.348C>T	c.(346-348)gaC>gaT	p.D116D	TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000449758.2_Silent_p.D116D|TMEM106C_ENST00000256686.6_Silent_p.D116D|TMEM106C_ENST00000552546.1_Silent_p.D45D|TMEM106C_ENST00000552561.1_Silent_p.D116D|TMEM106C_ENST00000550552.1_Silent_p.D116D	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	116						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGGATGATGACGGCATCAAAG	0.463000													12	340					0	0	0.001368	0	0
DCDC1	341019	broad.mit.edu	37	11	30946894	30946894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:30946894C>T	ENST00000597505.1	-	21	2958	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	DCDC1_ENST00000339794.5_Missense_Mutation_p.E66K|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	222					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCAAATATTTCCTTCCCCTTT	0.348000													88	31					0	0	0.003610	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073779	62073779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62073779C>T	ENST00000354587.3	-	5	972	c.796G>A	c.(796-798)Gat>Aat	p.D266N	KCNQ2_ENST00000370221.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D266N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D266N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D266N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	266					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CAGAGTGCATCCGCGTAGGTG	0.577000													53	212					0	0	0.003610	0	0
CDC27	996	broad.mit.edu	37	17	45219350	45219350	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45219350A>C	ENST00000066544.3	-	12	1513	c.1420T>G	c.(1420-1422)Tta>Gta	p.L474V	CDC27_ENST00000531206.1_Missense_Mutation_p.L480V|CDC27_ENST00000527547.1_Missense_Mutation_p.L473V|CDC27_ENST00000446365.2_Missense_Mutation_p.L413V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	474					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACAAAGCTAAATAACCTTTC	0.378000													73	100					0	0	0.003610	0	0
UCHL5	51377	broad.mit.edu	37	1	193018906	193018906	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:193018906G>A	ENST00000367455.3	-	3	451	c.216C>T	c.(214-216)tcC>tcT	p.S72S	UCHL5_ENST00000367451.4_Silent_p.S72S|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Silent_p.S72S|UCHL5_ENST00000367454.1_Silent_p.S72S|UCHL5_ENST00000367448.1_Silent_p.S72S|UCHL5_ENST00000530098.2_Intron	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	72					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TGTCAAGTCGGGAGTCCTGAA	0.398000													10	56					0	0	0.000673	0	0
MRC2	9902	broad.mit.edu	37	17	60754805	60754805	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60754805C>T	ENST00000303375.5	+	12	2412	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	670					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTCCTGTCCCCAGGGCTGGG	0.672000													17	15					0	0	0.001216	0	0
CNTN4	152330	broad.mit.edu	37	3	2928832	2928832	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:2928832G>A	ENST00000397461.1	+	9	1248	c.864G>A	c.(862-864)gaG>gaA	p.E288E	CNTN4_ENST00000418658.1_Silent_p.E288E|CNTN4_ENST00000427331.1_Silent_p.E288E|CNTN4_ENST00000358480.3_Silent_p.E69E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	288	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E288D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGCAGGAGGATGCTGGTT	0.398000													7	23					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196659083	196659083	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196659083G>A	ENST00000312428.6	-	57	10795	c.10695C>T	c.(10693-10695)ttC>ttT	p.F3565F	DNAH7_ENST00000409063.1_Silent_p.F48F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3565	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCTGCCAAAGAACTCCGGAT	0.463000													27	50					0	0	0.006320	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925567	156925567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156925567C>T	ENST00000368194.3	-	20	2735	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D526N	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	526					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCAAGGCATCCTTTTCTTTC	0.498000													149	216					0	0	0.003610	0	0
INA	9118	broad.mit.edu	37	10	105048256	105048256	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105048256C>T	ENST00000369849.4	+	3	1379	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	444	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ATCCACTGGGCTATCACTTAA	0.473000													34	77					0	0	0.005524	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740132	140740132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140740132G>A	ENST00000522605.1	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTGGCGAATCCACTAA	0.368000													19	55					0	0	0.001882	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61324626G>A	ENST00000283752.5	-	6	633	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.P164S	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000													24	79					0	0	0.006320	0	0
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:90741917G>A	ENST00000406263.1	+	12	1519	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	CDK14_ENST00000436577.2_Silent_p.K276K|CDK14_ENST00000265741.3_Silent_p.K387K|CDK14_ENST00000380050.3_Silent_p.K405K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GTTCCCCAAAGAACAGACTGT	0.502000													129	84					0	0	0.003610	0	0
PLOD1	5351	broad.mit.edu	37	1	12012792	12012792	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12012792G>A	ENST00000196061.4	+	5	606	c.579_splice	c.e5+1	p.R193_splice	PLOD1_ENST00000376369.3_Splice_Site_p.R240_splice|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	193					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGGAGAAGAGGGTAAGAGGCA	0.632000													20	19					0	0	0.001882	0	0
ANKRD17	26057	broad.mit.edu	37	4	73987397	73987397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:73987397G>A	ENST00000358602.4	-	19	3688	c.3572C>T	c.(3571-3573)gCt>gTt	p.A1191V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1078V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A940V|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1191					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCACCAGAAGCAGCCAGACT	0.393000													12	39					0	0	0.001368	0	0
NAT6	24142	broad.mit.edu	37	3	50334761	50334761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:50334761G>A	ENST00000443842.1	-	2	941	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.P45L|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.P45L|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.P67L|HYAL3_ENST00000513170.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGGTGTTCAGGATCCAGGGT	0.602000													9	50					0	0	0.000673	0	0
DIDO1	11083	broad.mit.edu	37	20	61510928	61510928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61510928C>T	ENST00000266070.4	-	16	6705	c.6380G>A	c.(6379-6381)cGg>cAg	p.R2127Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2127Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2127	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					gtcccagtcccgctctcggct	0.721000													37	62					0	0	0.005524	0	0
SMPX	23676	broad.mit.edu	37	X	21761934	21761934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:21761934C>T	ENST00000379494.3	-	3	299	c.66G>A	c.(64-66)atG>atA	p.M22I	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	22					striated muscle contraction					breast(1)|endometrium(1)	2						GAAAGGCTCCCATTGGAATAT	0.428000													34	48					0	0	0.006230	0	0
CSMD3	114788	broad.mit.edu	37	8	113293562	113293562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113293562G>A	ENST00000297405.5	-	59	9593	c.9349C>T	c.(9349-9351)Cca>Tca	p.P3117S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3047S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2948S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3077S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3117	Sushi 23.					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						GTGGTTCCTGGGTTACCACAC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	22					0	0	0.002780	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616481	43616481	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:43616481G>A	ENST00000360835.3	-	14	1788	c.1662C>T	c.(1660-1662)atC>atT	p.I554I		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	554					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTTTGTCTCGATCTCAAACT	0.607000													23	110					0	0	0.005443	0	0
MXRA5	25878	broad.mit.edu	37	X	3241058	3241058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3241058C>T	ENST00000217939.6	-	5	2822	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	890						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCGGAAAGGTCATCAACAACT	0.473000													46	6					0	0	0.003610	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364577	62364577	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62364577C>T	ENST00000328969.5	+	3	718	c.591C>T	c.(589-591)tcC>tcT	p.S197S	ZGPAT_ENST00000355969.6_Silent_p.S197S|ZGPAT_ENST00000369967.3_Silent_p.S197S|ZGPAT_ENST00000448100.1_Silent_p.S197S|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000357119.4_Silent_p.S197S	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	197					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGGTTCTCCCATGGGCAGG	0.652000													12	60					0	0	0.001855	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307585	46307585	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46307585G>A	ENST00000221538.3	-	3	1720	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	RSPH6A_ENST00000597055.1_Silent_p.F526F|RSPH6A_ENST00000600188.1_Silent_p.F262F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	526	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGATGCCCTCGAAGTCCGGGT	0.652000													15	27					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10435093	10435093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10435093C>T	ENST00000245503.5	-	22	2938	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E852K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	852					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTCCTTCTCAGTTTCTGCA	0.428000													39	45					0	0	0.001951	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600668	31600668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31600668G>A	ENST00000170150.3	+	4	458	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	88						extracellular region	lipid binding										GCTGGTTTCGGAGTGCGCCTG	0.532000													47	226					0	0	0.003610	0	0
MYO15A	51168	broad.mit.edu	37	17	18040975	18040975	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18040975C>T	ENST00000205890.5	+	16	5195	c.4857C>T	c.(4855-4857)atC>atT	p.I1619I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1619	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAACAAGATCGTCTTCCAGG	0.517000													8	37					0	0	0.000673	0	0
FLAD1	80308	broad.mit.edu	37	1	154965400	154965400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154965400G>T	ENST00000292180.3	+	7	1973	c.1651G>T	c.(1651-1653)Gag>Tag	p.E551*	FLAD1_ENST00000368428.1_Nonsense_Mutation_p.E92*|FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E454*|FLAD1_ENST00000295530.2_3'UTR|FLAD1_ENST00000368432.1_3'UTR|FLAD1_ENST00000405236.2_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	551	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			GGGGAGTCGGGAGAATACCGT	0.597000													6	16					0.00198382	0.00318022	0.001984	1	0
PTPRB	5787	broad.mit.edu	37	12	70960288	70960288	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70960288C>T	ENST00000334414.6	-	15	3875	c.3831G>A	c.(3829-3831)aaG>aaA	p.K1277K	PTPRB_ENST00000551525.1_Silent_p.K1276K|PTPRB_ENST00000451516.2_Silent_p.K969K|PTPRB_ENST00000550857.1_Silent_p.K969K|PTPRB_ENST00000550358.1_Silent_p.K1189K|PTPRB_ENST00000261266.5_Silent_p.K1059K|PTPRB_ENST00000538708.1_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1059	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTTGTATTTCTTGCCTGGTG	0.433000													16	161					0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10398382	10398382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10398382C>T	ENST00000226207.5	-	37	5426	c.5332G>A	c.(5332-5334)Gac>Aac	p.D1778N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1778						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCGCTGGTGTCCTGTTCCTTC	0.507000													29	136					0	0	0.003271	0	0
EPS15L1	58513	broad.mit.edu	37	19	16547762	16547762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16547762G>A	ENST00000597937.1	-	6	362	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	EPS15L1_ENST00000535753.2_Missense_Mutation_p.H120Y|EPS15L1_ENST00000594975.1_Missense_Mutation_p.H120Y|EPS15L1_ENST00000248070.6_Missense_Mutation_p.H120Y|EPS15L1_ENST00000455140.2_Missense_Mutation_p.H120Y	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	120					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACAGCCCAGTGGGCCTCTGCA	0.498000													33	31					0	0	0.007835	0	0
C15orf27	123591	broad.mit.edu	37	15	76496495	76496495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76496495G>A	ENST00000388942.3	+	11	1711	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	479						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCGAGCTGGAACACAGGGT	0.642000													19	132					0	0	0.001882	0	0
UROC1	131669	broad.mit.edu	37	3	126224595	126224595	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126224595C>T	ENST00000290868.2	-	8	815	c.762G>A	c.(760-762)ggG>ggA	p.G254G	UROC1_ENST00000383579.3_Silent_p.G254G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	254					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGCCTGAGCCCCACTCATTC	0.642000													14	36					0	0	0.003163	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718610	140718610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140718610G>A	ENST00000394576.2	+	1	72	c.72G>A	c.(70-72)tgG>tgA	p.W24*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCTGTGGGAGGCCAGGG	0.582000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	40					0	0	0.003330	0	0
OGDH	4967	broad.mit.edu	37	7	44715757	44715757	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44715757C>T	ENST00000443864.2	+	9	1308	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	OGDH_ENST00000449767.1_Intron|OGDH_ENST00000222673.5_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Intron	NM_001003941.2	NP_001003941.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	0					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGGTAAGGCCCAGAGAGAGGC	0.557000													57	28					0	0	0.003610	0	0
OSMR	9180	broad.mit.edu	37	5	38904051	38904051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:38904051G>A	ENST00000274276.3	+	8	1461	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	353	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCATGACCTGGAAGGTGCACT	0.313000													5	46					0	0	0.000602	0	0
HNF1A	6927	broad.mit.edu	37	12	121432128	121432128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121432128G>A	ENST00000257555.6	+	4	1101	c.875G>A	c.(874-876)gGg>gAg	p.G292E	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.G292E|HNF1A_ENST00000543427.1_Missense_Mutation_p.G175E|HNF1A_ENST00000402929.1_Missense_Mutation_p.G292E|HNF1A_ENST00000400024.2_Missense_Mutation_p.G292E|HNF1A_ENST00000544413.1_Missense_Mutation_p.G292E			P20823	HNF1A_HUMAN	HNF1 homeobox A	292					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P291fs*47(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCCCCCCAGGGCCAGGCCCG	0.662000									Hepatic Adenoma, Familial Clustering of				36	70					0	0	0.006230	0	0
DDC	1644	broad.mit.edu	37	7	50605624	50605624	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50605624C>T	ENST00000444124.2	-	4	569	c.369G>A	c.(367-369)ggG>ggA	p.G123G	DDC_ENST00000357936.5_Silent_p.G123G|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Silent_p.G123G|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.G123G|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	123	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCAGCATCTTCCCGAGCCAGT	0.562000													32	71					0	0	0.003271	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153177437C>T	ENST00000368747.1	+	2	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	85	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000													6	27					0	0	0.001168	0	0
SNX29	92017	broad.mit.edu	37	16	12136845	12136845	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:12136845C>T	ENST00000566228.1	+	5	408	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGACGTGGGCCGGGGTCGCG	0.652000													10	21					0	0	0.000978	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390708	51390708	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:51390708G>A	ENST00000394904.3	-	9	859	c.810C>T	c.(808-810)ttC>ttT	p.F270F	SLC11A2_ENST00000546743.1_Silent_p.F162F|SLC11A2_ENST00000545993.2_Silent_p.F237F|SLC11A2_ENST00000262051.7_Silent_p.F241F|SLC11A2_ENST00000547198.1_Silent_p.F241F|SLC11A2_ENST00000547688.1_Silent_p.F270F|SLC11A2_ENST00000541174.2_Silent_p.F241F|SLC11A2_ENST00000262052.5_Silent_p.F241F	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	241					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGGATGGTACGAACATGCCCT	0.493000													11	2					0	0	0.001368	0	0
NEB	4703	broad.mit.edu	37	2	152520287	152520287	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152520287G>A	ENST00000427231.2	-	45	5740	c.5538C>T	c.(5536-5538)ttC>ttT	p.F1846F	NEB_ENST00000603639.1_Silent_p.F1846F|NEB_ENST00000604864.1_Silent_p.F1846F|NEB_ENST00000409198.1_Silent_p.F1846F|NEB_ENST00000172853.10_Silent_p.F1846F|NEB_ENST00000397345.3_Silent_p.F1846F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1846					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)		CCACTTGCATGAAGTGCACCA	0.507000													15	45					0	0	0.003163	0	0
WNK1	65125	broad.mit.edu	37	12	1005702	1005702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:1005702G>A	ENST00000537687.1	+	24	7472	c.6829G>A	c.(6829-6831)Gct>Act	p.A2277T	WNK1_ENST00000530271.2_Missense_Mutation_p.A2515T|WNK1_ENST00000535572.1_Missense_Mutation_p.A1769T|WNK1_ENST00000315939.6_Missense_Mutation_p.A2017T|WNK1_ENST00000340908.4_Missense_Mutation_p.A1610T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2017					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCGGAGGCCGCTTTTTTAAG	0.498000													11	36					0	0	0.000978	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7505331	7505331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7505331C>T	ENST00000359920.6	+	1	758	c.505C>T	c.(505-507)Cca>Tca	p.P169S	CTD-2207O23.3_ENST00000593531.1_Silent_p.S126S|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P11S	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	169					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GGGTCCCCAGCCAACACCGAG	0.682000													11	31					0	0	0.001368	0	0
PEG3	5178	broad.mit.edu	37	19	57326893	57326893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57326893C>T	ENST00000326441.9	-	10	3280	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E849K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E847K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E973K|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	973					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCCCACACTCCTGACATTCA	0.468000													31	103					0	0	0.003271	0	0
MYO1G	64005	broad.mit.edu	37	7	45006306	45006306	+	Silent	SNP	G	G	A	rs144708261		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:45006306G>A	ENST00000258787.7	-	15	2050	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	638	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGCGGGAAGCGAAGCCAGCCC	0.602000													18	123					0	0	0.006122	0	0
DNAI2	64446	broad.mit.edu	37	17	72278110	72278110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72278110C>T	ENST00000579490.1	+	1	460	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	DNAI2_ENST00000311014.6_Nonsense_Mutation_p.Q52*|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.Q52*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.Q52*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	52					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CACGGGCATCCAGTGCTCGAT	0.662000									Kartagener syndrome				42	49					0	0	0.003214	0	0
MYO7B	4648	broad.mit.edu	37	2	128367446	128367446	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128367446T>A	ENST00000389524.4	+	24	3100	c.3047T>A	c.(3046-3048)gTc>gAc	p.V1016D	MYO7B_ENST00000428314.1_Missense_Mutation_p.V1016D|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1016D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1016	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATATGGAACGTCATCCTGAGG	0.592000													6	6					0	0	0.006214	0	0
RNF186	54546	broad.mit.edu	37	1	20141231	20141231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20141231C>T	ENST00000375121.2	-	1	540	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	122						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCAGCCCCTGAGGACAG	0.662000													19	26					0	0	0.001216	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202306	140202306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140202306G>A	ENST00000529859.1	+	1	946	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E316K|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E316K|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTCATATGAAATTAATAT	0.323000													6	31					0	0	0.001168	0	0
CACNA1B	774	broad.mit.edu	37	9	140964210	140964210	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140964210G>A	ENST00000371372.1	+	32	4814	c.4668_splice	c.e32-1	p.E1557_splice	CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557_splice|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1557					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCACATGTAGGAAACGGTTGG	0.483000													7	16					0	0	0.004482	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245645	94245645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:94245645C>T	ENST00000393140.1	-	3	208	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PRIMA1_ENST00000316227.3_Missense_Mutation_p.E36K|PRIMA1_ENST00000393143.1_Missense_Mutation_p.E36K	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	36					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TTCTGGGGCTCACCATGCGTC	0.652000													11	4					0	0	0.001523	0	0
GLP2R	9340	broad.mit.edu	37	17	9765355	9765355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:9765355G>A	ENST00000262441.5	+	9	1517	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E	GLP2R_ENST00000574745.1_Missense_Mutation_p.G155E	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	335					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACAACAAATGGGAATAAGAAA	0.473000													78	58					0	0	0.003610	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018742	34018742	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:34018742G>C	ENST00000382499.2	-	24	3324	c.3325C>G	c.(3325-3327)Cga>Gga	p.R1109G	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R1109G|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R1070G|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R1065G|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R1070G	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1070	Poly-Pro.|Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACGGTGCTCGGCTTGGTCTG	0.527000													32	62					0	0	0.003271	0	0
GCSAML	148823	broad.mit.edu	37	1	247737590	247737590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247737590G>A	ENST00000366491.2	+	7	751	c.254G>A	c.(253-255)aGg>aAg	p.R85K	GCSAML_ENST00000536561.1_Missense_Mutation_p.R85K|GCSAML_ENST00000527084.1_Missense_Mutation_p.R73K|GCSAML_ENST00000366488.4_Missense_Mutation_p.R105K|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.R73K|GCSAML_ENST00000366489.1_Missense_Mutation_p.R85K|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.R73K					germinal center-associated, signaling and motility-like																		TTTAGAGAAAGGTCAGAGACA	0.438000													12	35					0	0	0.000978	0	0
DSG4	147409	broad.mit.edu	37	18	28968840	28968840	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28968840T>A	ENST00000359747.4	+	5	405	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.Y126N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	126	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCACAGATCTATTGCCGGGC	0.363000													44	102					0	0	0.003610	0	0
CYP2D7	1564	broad.mit.edu	37	22	42536661	42536661	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:42536661G>A	ENST00000435101.1	-	0	342				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CTTCCAGACGGCCTCATCCTT	0.607000													6	9					0	0	0.001168	0	0
OR1L6	392390	broad.mit.edu	37	9	125512429	125512429	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125512429G>A	ENST00000373684.1	+	1	411	c.411G>A	c.(409-411)caG>caA	p.Q137Q	OR1L6_ENST00000304720.2_Silent_p.Q101Q			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCCTGGCCCAGATGTACTTCT	0.488000													21	71					0	0	0.003330	0	0
PLEC	5339	broad.mit.edu	37	8	144994613	144994613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144994613G>A	ENST00000322810.4	-	32	9956	c.9787C>T	c.(9787-9789)Ccc>Tcc	p.P3263S	PLEC_ENST00000354589.3_Missense_Mutation_p.P3126S|PLEC_ENST00000345136.3_Missense_Mutation_p.P3126S|PLEC_ENST00000527096.1_Missense_Mutation_p.P3149S|PLEC_ENST00000398774.2_Missense_Mutation_p.P3094S|PLEC_ENST00000354958.2_Missense_Mutation_p.P3104S|PLEC_ENST00000436759.2_Missense_Mutation_p.P3153S|PLEC_ENST00000356346.3_Missense_Mutation_p.P3112S|PLEC_ENST00000357649.2_Missense_Mutation_p.P3130S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3263	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						TGCTCCCGGGGAATGAGGCCC	0.667000													8	11					0	0	0.003080	0	0
CAPZA3	93661	broad.mit.edu	37	12	18892056	18892056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18892056G>A	ENST00000317658.3	+	1	1012	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	285					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCTAAATTAGGATATGTCATT	0.383000													6	52					0	0	0.001984	0	0
C10orf90	118611	broad.mit.edu	37	10	128147757	128147757	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:128147757G>A	ENST00000284694.7	-	6	1869	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	C10orf90_ENST00000544758.1_Silent_p.F680F|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Silent_p.F536F|C10orf90_ENST00000454341.1_Silent_p.F486F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	583										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGCGAGAAATGAACTGAGGCT	0.493000													29	69					0	0	0.001786	0	0
XIST	7503	broad.mit.edu	37	X	73064557	73064557	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73064557G>A	ENST00000429829.1	-	0	8031					NR_001564.2																						AACAGGCCAGGAAAATGGGCC	0.468000													21	24					0	0	0.002780	0	0
TBCE	6905	broad.mit.edu	37	1	235594039	235594039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235594039C>T	ENST00000543662.1	+	7	686	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.P194S|TBCE_ENST00000406207.1_Missense_Mutation_p.P194S			Q15813	TBCE_HUMAN	tubulin folding cofactor E	194					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACTAAAATTTCCCTCCGGTTC	0.338000													16	19					0	0	0.004007	0	0
AK9	221264	broad.mit.edu	37	6	109962759	109962759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:109962759G>A	ENST00000424296.2	-	10	971	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Nonsense_Mutation_p.Q299*|AK9_ENST00000368948.2_Nonsense_Mutation_p.Q299*	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TCTGCACCCTGAAGTTTGGTT	0.343000													20	3					0	0	0.002299	0	0
DCC	1630	broad.mit.edu	37	18	50866258	50866258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50866258T>A	ENST00000442544.2	+	15	2956	c.2340T>A	c.(2338-2340)taT>taA	p.Y780*	DCC_ENST00000412726.1_Nonsense_Mutation_p.Y628*|DCC_ENST00000581580.1_Nonsense_Mutation_p.Y435*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	780	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAGCGATATTATTCCATTG	0.393000													10	25					0	0	0.000978	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674859	9674859	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:9674859G>A	ENST00000330255.4	-	6	897	c.885C>T	c.(883-885)ttC>ttT	p.F295F	DHRS7C_ENST00000571134.1_Silent_p.F294F	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	295						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCACCACGGCGAAAAAGAACT	0.577000													11	5					0	0	0.001855	0	0
ABCF1	23	broad.mit.edu	37	6	30546140	30546140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30546140C>T	ENST00000326195.8	+	5	471	c.359C>T	c.(358-360)cCc>cTc	p.P120L	ABCF1_ENST00000376545.3_Missense_Mutation_p.P120L|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	120					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCCCAAAACCCCGCGGAGGG	0.488000													12	70					0	0	0.003163	0	0
OR8S1	341568	broad.mit.edu	37	12	48919812	48919812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48919812G>A	ENST00000310194.1	+	1	398	c.398G>A	c.(397-399)gGa>gAa	p.G133E	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTACTTTATGGACAGATCATG	0.527000													23	388					0	0	0.002299	0	0
ZNF764	92595	broad.mit.edu	37	16	30569482	30569482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30569482G>A	ENST00000395091.2	-	1	337	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	ZNF764_ENST00000252797.2_Missense_Mutation_p.L8F|AC002310.13_ENST00000568114.1_Missense_Mutation_p.L8F			Q96H86	ZN764_HUMAN	zinc finger protein 764	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGGGGAGGGAGCGGGGCCAGA	0.726000													13	11					0	0	0.004990	0	0
HNF1A	6927	broad.mit.edu	37	12	121434148	121434148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121434148C>T	ENST00000257555.6	+	5	1265	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.P347S|HNF1A_ENST00000543427.1_Missense_Mutation_p.P230S|HNF1A_ENST00000402929.1_Missense_Mutation_p.P347S|HNF1A_ENST00000400024.2_Missense_Mutation_p.P347S|HNF1A_ENST00000544413.1_Missense_Mutation_p.P347S			P20823	HNF1A_HUMAN	HNF1 homeobox A	347					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGTCTACACCCCTCCACCA	0.592000									Hepatic Adenoma, Familial Clustering of				241	83					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874793	47874793	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:47874793G>A	ENST00000289672.2	-	38	6042	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1998					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGTACACAGGAGACCCACC	0.572000													30	19					0	0	0.003755	0	0
CD163	9332	broad.mit.edu	37	12	7632536	7632536	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7632536A>T	ENST00000359156.4	-	16	3602	c.3400T>A	c.(3400-3402)Ttt>Att	p.F1134I	CD163_ENST00000396620.3_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000432237.2_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1134					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAGGAAGAAATTTAGACACA	0.373000													7	28					0	0	0.001984	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013896	156013896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156013896G>A	ENST00000368309.3	-	6	1111	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	340						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGGGCCTGGGAGGTGGGGGG	0.687000													4	18					0	0	0.000248	0	0
ZNF254	9534	broad.mit.edu	37	19	24309664	24309664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:24309664C>T	ENST00000357002.4	+	4	977	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	ZNF254_ENST00000342944.6_Missense_Mutation_p.H203Y	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	288					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAGATAATTCATACTGGAGA	0.353000													7	29					0	0	0.001984	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92816326	92816326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:92816326C>T	ENST00000378487.2	-	2	140	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E47K	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	47										large_intestine(1)|lung(7)	8						CACTAACCTTCATTTCTACCA	0.393000													10	10					0	0	0.000673	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739724	46739724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46739724C>T	ENST00000306448.4	-	2	1240	c.127G>A	c.(127-129)Gga>Aga	p.G43R	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.G43R	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	43					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACGAGGCGTCCTTTCTCAATG	0.438000													77	57					0	0	0.003610	0	0
PCSK5	5125	broad.mit.edu	37	9	78953354	78953354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78953354C>T	ENST00000545128.1	+	34	5414	c.4876C>T	c.(4876-4878)Caa>Taa	p.Q1626*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	791					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GACTTGTGATCAATGCAAAGG	0.473000													6	16					0	0	0.001984	0	0
KCNH2	3757	broad.mit.edu	37	7	150649601	150649601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150649601G>A	ENST00000392968.2	-	4	2301	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	KCNH2_ENST00000330883.4_Missense_Mutation_p.A150V|KCNH2_ENST00000262186.5_Missense_Mutation_p.A490V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A490V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	490					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGTGGACGGCGATGCGGCC	0.592000													36	78					0	0	0.007835	0	0
RETSAT	54884	broad.mit.edu	37	2	85577173	85577173	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:85577173G>A	ENST00000295802.4	-	4	901	c.789C>T	c.(787-789)ttC>ttT	p.F263F	RETSAT_ENST00000263854.6_Silent_p.F263F|RETSAT_ENST00000457495.2_Silent_p.F202F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	263					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CGTAAGTGGGGAAGATGTAGC	0.597000													20	18					0	0	0.001216	0	0
OR5H6	79295	broad.mit.edu	37	3	97983782	97983782	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97983782C>T	ENST00000383696.2	+	1	695	c.654C>T	c.(652-654)ttC>ttT	p.F218F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F218F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTTTATTTTCGCAGGTTCTG	0.299000													6	28					0	0	0.001984	0	0
STON1	11037	broad.mit.edu	37	2	48807966	48807966	+	Missense_Mutation	SNP	C	C	T	rs77258218	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:48807966C>T	ENST00000309835.3	+	1	204	c.194C>T	c.(193-195)cCc>cTc	p.P65L	STON1_ENST00000406226.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P65L|STON1_ENST00000404752.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P65L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTCCTCCCCCATTGTAGAT	0.507000													36	102					0	0	0.005524	0	0
ABCA9	10350	broad.mit.edu	37	17	67012496	67012496	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:67012496C>T	ENST00000340001.4	-	22	3148	c.2937G>A	c.(2935-2937)cgG>cgA	p.R979R	ABCA9_ENST00000370732.2_Silent_p.R979R|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Silent_p.R979R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	979					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGCAATTCAGCCGTTTTGTAT	0.353000													49	55					0	0	0.003610	0	0
AKAP6	9472	broad.mit.edu	37	14	33291510	33291510	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:33291510C>T	ENST00000280979.4	+	13	4661	c.4491C>T	c.(4489-4491)ccC>ccT	p.P1497P	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1497					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)		TGGAGGATCCCCTGCTTCGTG	0.368000													21	15					0	0	0.001882	0	0
ACVRL1	94	broad.mit.edu	37	12	52309924	52309924	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52309924A>T	ENST00000550683.1	+	7	1296	c.1195A>T	c.(1195-1197)Atc>Ttc	p.I399F	ACVRL1_ENST00000419526.2_Missense_Mutation_p.I211F|ACVRL1_ENST00000388922.4_Missense_Mutation_p.I385F	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	385	Protein kinase.		W -> S (in HHT2; dbSNP:rs28936402).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGACGAGCAGATCCGCACGGA	0.607000													55	26					0	0	0.003610	0	0
SND1	27044	broad.mit.edu	37	7	127729645	127729645	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127729645C>T	ENST00000354725.3	+	22	2717	c.2523C>T	c.(2521-2523)acC>acT	p.T841T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	841					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCATGTCACCCTGCAGTTTG	0.597000													25	77					0	0	0.003330	0	0
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248685814C>T	ENST00000343414.4	+	1	899	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443000													42	29					0	0	0.002222	0	0
TENC1	23371	broad.mit.edu	37	12	53452367	53452367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53452367C>T	ENST00000314250.6	+	16	1527	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	TENC1_ENST00000552570.1_Missense_Mutation_p.P413S|TENC1_ENST00000314276.3_Missense_Mutation_p.P423S|TENC1_ENST00000451358.1_Missense_Mutation_p.P413S|TENC1_ENST00000546602.1_Missense_Mutation_p.P413S|TENC1_ENST00000379902.3_Missense_Mutation_p.P289S|TENC1_ENST00000549700.1_Missense_Mutation_p.P413S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	413	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGAGAGGTTCCCCTTCCAAGC	0.622000													38	25					0	0	0.003610	0	0
UPF3B	65109	broad.mit.edu	37	X	118971903	118971903	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:118971903G>A	ENST00000276201.2	-	10	1188	c.1119C>T	c.(1117-1119)cgC>cgT	p.R373R	UPF3B_ENST00000345865.2_Silent_p.R360R	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	373	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTGCCTACGGCGCTCTTCTT	0.463000													64	13					0	0	0.003610	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638692	108638692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:108638692G>A	ENST00000218006.2	-	12	2593	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	768	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACACAGGAGGAGGCTTCTTA	0.468000													96	21					0	0	0.003610	0	0
SART1	9092	broad.mit.edu	37	11	65734964	65734964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65734964C>T	ENST00000312397.5	+	11	1428	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	446					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGTCGCCGCCGAGTGTCCGA	0.677000													16	26					0	0	0.003163	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195110	1195110	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:1195110G>A	ENST00000401903.1	-	4	520	c.261C>T	c.(259-261)caC>caT	p.H87H	ZFAND2A_ENST00000316495.3_Silent_p.H87H			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	87						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TCTTCCCAGGGTGAGAGTCAC	0.502000													98	55					0	0	0.003610	0	0
SELL	6402	broad.mit.edu	37	1	169672473	169672473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:169672473C>T	ENST00000236147.4	-	6	1074	c.914G>A	c.(913-915)gGa>gAa	p.G305E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	292	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAACTCAGTTCCTTCTGAGCA	0.438000													30	12					0	0	0.007291	0	0
HECTD4	283450	broad.mit.edu	37	12	112744000	112744000	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:112744000G>A	ENST00000550722.1	-	7	1166	c.771C>T	c.(769-771)ccC>ccT	p.P257P	HECTD4_ENST00000377560.5_Silent_p.P257P|HECTD4_ENST00000430131.2_Silent_p.P7P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGCTGCCAATGGGGAGGTGAT	0.498000													5	5					0	0	0.000602	0	0
ACAN	176	broad.mit.edu	37	15	89386847	89386847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:89386847C>T	ENST00000439576.2	+	6	1393	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	ACAN_ENST00000559004.1_Missense_Mutation_p.P340L|ACAN_ENST00000352105.7_Missense_Mutation_p.P340L|ACAN_ENST00000561243.1_Missense_Mutation_p.P340L|ACAN_ENST00000558207.1_Missense_Mutation_p.P340L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	340					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACCCCGACCCCTCATCCCGC	0.642000													37	74					0	0	0.002222	0	0
RND1	27289	broad.mit.edu	37	12	49258632	49258632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49258632C>T	ENST00000309739.5	-	2	272	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	48					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GTGTAATTTTCGAACACGGTG	0.517000													36	158					0	0	0.004289	0	0
ODF2	4957	broad.mit.edu	37	9	131222920	131222920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131222920C>T	ENST00000303890.5	+	5	668	c.83C>T	c.(82-84)cCg>cTg	p.P28L	ODF2_ENST00000434106.2_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.P28L|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000448249.3_Missense_Mutation_p.P28L|ODF2_ENST00000372807.5_Missense_Mutation_p.P28L|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000444119.2_Missense_Mutation_p.P28L|ODF2_ENST00000535026.1_Missense_Mutation_p.P28L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	0					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAAAAACTCCCGAAACCATCA	0.567000													22	24					0	0	0.001523	0	0
MIR518B	574474	broad.mit.edu	37	19	54206011	54206011	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54206011G>A	ENST00000385127.1	+	0	21					NR_030196.1																						GCCCTCCAGAGGGAAGCGCTT	0.418000													16	48					0	0	0.004990	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049724	69049724	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69049724A>G	ENST00000295381.3	+	10	1869	c.1450A>G	c.(1450-1452)Aga>Gga	p.R484G	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R485G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R477G|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R178G|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R445G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R478G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	484					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGGCACAGGAGAACGATGTC	0.537000													29	76					0	0	0.007291	0	0
ATP7B	540	broad.mit.edu	37	13	52548897	52548897	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52548897G>A	ENST00000242839.4	-	2	615	c.459C>T	c.(457-459)acC>acT	p.T153T	ATP7B_ENST00000542656.1_Silent_p.T121T|ATP7B_ENST00000418097.2_Silent_p.T153T|ATP7B_ENST00000448424.2_Silent_p.T153T|ATP7B_ENST00000400366.3_Silent_p.T153T|ATP7B_ENST00000344297.5_Silent_p.T153T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.T153T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	153	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGGACTGGCAGGTCATGCCCT	0.582000									Wilson disease				10	28					0	0	0.000673	0	0
CNGA2	1260	broad.mit.edu	37	X	150912737	150912737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150912737G>A	ENST00000329903.4	+	6	1795	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	588					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547000													74	16					0	0	0.003610	0	0
GRM7	2917	broad.mit.edu	37	3	7728080	7728080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:7728080C>T	ENST00000486284.1	+	10	3009	c.2735C>T	c.(2734-2736)tCt>tTt	p.S912F	GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Missense_Mutation_p.S912F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTACAAAAGTCTGTTACTTGG	0.308000													18	46					0	0	0.002299	0	0
SCAF11	9169	broad.mit.edu	37	12	46320217	46320217	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46320217A>C	ENST00000465950.1	-	1	3531	c.2322T>G	c.(2320-2322)taT>taG	p.Y774*	SCAF11_ENST00000419565.2_Nonsense_Mutation_p.Y1089*|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.Y897*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.Y1089*			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1089					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTGATCTTTATAGGCAAAAC	0.428000													22	91					0	0	0.003330	0	0
OR4A16	81327	broad.mit.edu	37	11	55110799	55110799	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55110799C>T	ENST00000314721.2	+	1	173	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGGAAACCTCCTCATTTGGG	0.433000													37	32					0	0	0.006999	0	0
SENP7	57337	broad.mit.edu	37	3	101062792	101062792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101062792G>A	ENST00000394095.2	-	14	1897	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	SENP7_ENST00000348610.3_Missense_Mutation_p.S582F|SENP7_ENST00000358203.3_Missense_Mutation_p.S451F|SENP7_ENST00000314261.7_Missense_Mutation_p.S549F|SENP7_ENST00000394094.2_Missense_Mutation_p.S550F|SENP7_ENST00000394091.1_Missense_Mutation_p.S451F	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	615					proteolysis	nucleus	cysteine-type peptidase activity	p.S549Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAATTCACTAGATTTTGCTAC	0.259000													5	5					0	0	0.001168	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035526	184035526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184035526C>T	ENST00000342981.4	+	5	760	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	EIF4G1_ENST00000352767.3_Missense_Mutation_p.P123S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P116S|EIF4G1_ENST00000350481.5_5'UTR|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P76S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P116S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P29S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P123S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P76S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P29S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P123S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	116					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATACGTTGTCCCGACACAGCA	0.557000													5	37					0	0	0.000602	0	0
SPAG9	9043	broad.mit.edu	37	17	49197823	49197823	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:49197823G>A	ENST00000262013.7	-	1	403	c.195C>T	c.(193-195)ttC>ttT	p.F65F	SPAG9_ENST00000357122.4_Silent_p.F65F|SPAG9_ENST00000505279.1_Silent_p.F65F	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	65					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGTCCTGCGCGAACACCGAGT	0.642000													4	18					0	0	0.000602	0	0
TRIM71	131405	broad.mit.edu	37	3	32932742	32932742	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:32932742C>T	ENST00000383763.4	+	4	2109	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	682					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCACGTTCGAGGGCCAGT	0.577000													28	23					0	0	0.006320	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31958389	31958389	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31958389C>A	ENST00000357886.4	-	12	1503	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	CDK5RAP1_ENST00000339269.5_Silent_p.T359T|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.T436T|CDK5RAP1_ENST00000452723.3_Silent_p.T346T			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	450					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATCTTCCTCCGTCTCACCAC	0.527000													7	216					0.00307968	0.00492749	0.003080	1	0
HGSNAT	138050	broad.mit.edu	37	8	43054585	43054585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:43054585C>T	ENST00000458501.2	+	18	1865	c.1865C>T	c.(1864-1866)cCc>cTc	p.P622L	HGSNAT_ENST00000521576.1_Missense_Mutation_p.P311L|HGSNAT_ENST00000297798.7_Missense_Mutation_p.P326L|HGSNAT_ENST00000379644.4_Missense_Mutation_p.P594L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	622					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AACTACTTCCCCTTTCAGTGG	0.483000													6	5					0	0	0.001168	0	0
GATA2	2624	broad.mit.edu	37	3	128205204	128205204	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128205204C>T	ENST00000341105.2	-	3	568	c.237G>A	c.(235-237)ctG>ctA	p.L79L	GATA2_ENST00000487848.1_Silent_p.L79L|GATA2_ENST00000430265.2_Silent_p.L79L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	79					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCCTCCGGTCAGGCGGGCTG	0.652000			Mis		AML(CML blast transformation)								7	20					0	0	0.000673	0	0
IL17RC	84818	broad.mit.edu	37	3	9959648	9959648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9959648C>T	ENST00000295981.3	+	3	600	c.382C>T	c.(382-384)Ccg>Tcg	p.P128S	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.P57S|IL17RC_ENST00000413608.1_Missense_Mutation_p.P57S|IL17RC_ENST00000383812.4_Missense_Mutation_p.P57S|IL17RC_ENST00000403601.3_Missense_Mutation_p.P57S	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	128						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGTGCCTGCTCCGGGCCCCGT	0.622000													20	11					0	0	0.002299	0	0
NELL1	4745	broad.mit.edu	37	11	20869269	20869269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:20869269C>T	ENST00000298925.5	+	5	713	c.560C>T	c.(559-561)tCt>tTt	p.S187F	NELL1_ENST00000357134.5_Missense_Mutation_p.S159F|NELL1_ENST00000532434.1_Missense_Mutation_p.S159F|NELL1_ENST00000325319.5_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	159	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTAGCGCCTCTCATCTCCTG	0.463000													8	4					0	0	0.003080	0	0
NUP88	4927	broad.mit.edu	37	17	5312176	5312176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5312176G>A	ENST00000573584.1	-	5	1243	c.734C>T	c.(733-735)cCa>cTa	p.P245L		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	245					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGCTGCCAATGGCCCAAAGTC	0.413000													29	23					0	0	0.002445	0	0
HNF1B	6928	broad.mit.edu	37	17	36093787	36093787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:36093787C>T	ENST00000225893.4	-	3	933	c.572G>A	c.(571-573)gGa>gAa	p.G191E	HNF1B_ENST00000560016.1_Missense_Mutation_p.G191E|HNF1B_ENST00000561193.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	191					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTCATATTTCCAGAACTCTG	0.478000													198	255					0	0	0.003610	0	0
KRT40	125115	broad.mit.edu	37	17	39137388	39137388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39137388G>A	ENST00000377755.4	-	4	737	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	KRT40_ENST00000398486.2_Missense_Mutation_p.R235C			Q6A162	K1C40_HUMAN	keratin 40	235	Coil 1B.|Rod.		R -> H (in dbSNP:rs2010027).			intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGCTGTTCACGAAGCAAGTTG	0.498000													64	87					0	0	0.003610	0	0
N4BP2	55728	broad.mit.edu	37	4	40098995	40098995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40098995C>T	ENST00000261435.6	+	3	451	c.35C>T	c.(34-36)cCt>cTt	p.P12L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	12						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGGGGAAATCCTTTTCGGAAG	0.403000													27	55					0	0	0.003271	0	0
PSMB7	5695	broad.mit.edu	37	9	127119142	127119142	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127119142T>C	ENST00000259457.3	-	7	636	c.623A>G	c.(622-624)aAc>aGc	p.N208S	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_3'UTR	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	208					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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						GCCCAGGTCGTTGAAGATGCC	0.557000													15	36					0	0	0.004990	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727911	20727911	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:20727911C>T	ENST00000427401.4	-	4	1192	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	366					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTAGGGTTTCTCTCCACTAT	0.403000													22	32					0	0	0.002299	0	0
PRKCG	5582	broad.mit.edu	37	19	54395012	54395012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54395012G>A	ENST00000263431.3	+	6	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_ENST00000540413.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.R92Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R205Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	205	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGACCCTCGGAACCTGACG	0.532000													24	103					0	0	0.002780	0	0
GHRH	2691	broad.mit.edu	37	20	35882724	35882724	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:35882724T>C	ENST00000373614.2	-	4	308	c.197A>G	c.(196-198)aAc>aGc	p.N66S	GHRH_ENST00000373611.2_Missense_Mutation_p.N66S|GHRH_ENST00000237527.3_Missense_Mutation_p.N66S			P01286	SLIB_HUMAN	growth hormone releasing hormone	66					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCGCTCTTGGTTGCTCTCTCT	0.498000													29	209					0	0	0.002096	0	0
AK8	158067	broad.mit.edu	37	9	135702305	135702305	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:135702305G>A	ENST00000298545.3	-	8	1214	c.693C>T	c.(691-693)ccC>ccT	p.P231P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	231						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGGGTAGGAGGGAATGACCC	0.537000													42	116					0	0	0.003214	0	0
TTLL13	440307	broad.mit.edu	37	15	90801445	90801445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:90801445G>A	ENST00000438251.1	+	9	1401	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	TTLL13_ENST00000339615.5_Missense_Mutation_p.E371K|RP11-697E2.6_ENST00000561573.1_3'UTR			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	371	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGCCTGTTTTGAAATCCTTGG	0.473000													116	134					0	0	0.003610	0	0
PHKA1	5255	broad.mit.edu	37	X	71830924	71830924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:71830924C>T	ENST00000373545.3	-	21	2741	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	PHKA1_ENST00000373539.3_Missense_Mutation_p.R827Q|PHKA1_ENST00000339490.3_Missense_Mutation_p.R827Q|PHKA1_ENST00000541944.1_Missense_Mutation_p.R768Q|PHKA1_ENST00000373542.4_Missense_Mutation_p.R827Q			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	827					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGAAATGTATCGGATCAGGCC	0.393000													18	4					0	0	0.001523	0	0
OR1J1	347168	broad.mit.edu	37	9	125240166	125240166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125240166G>A	ENST00000259357.2	-	1	69	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGCCCAGGAGGAGGAACTCG	0.552000													40	50					0	0	0.001951	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621226	144621226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144621226G>A	ENST00000262577.5	-	2	342	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	104					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTGCGGGACAGGAGGCTGGCC	0.627000													40	32					0	0	0.007835	0	0
ADPRH	141	broad.mit.edu	37	3	119301087	119301087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:119301087G>A	ENST00000478399.1	+	2	1476	c.71G>A	c.(70-72)tGg>tAg	p.W24*	ADPRH_ENST00000465513.1_Nonsense_Mutation_p.W24*|ADPRH_ENST00000357003.3_Nonsense_Mutation_p.W24*|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000478927.1_Nonsense_Mutation_p.W24*			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AATGGGAAGTGGGAGTTCCTC	0.572000													10	36					0	0	0.006214	0	0
UTP20	27340	broad.mit.edu	37	12	101693480	101693480	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:101693480A>T	ENST00000261637.4	+	13	1625	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	484					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGCAGAAGAAGACTAGATCC	0.318000													33	6					0	0	0.002445	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27820188	27820188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27820188C>T	ENST00000318304.8	+	13	1415	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P361S|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P225S|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P347S	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	378					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGAGAAAAGTCCATCACCCAC	0.428000													39	28					0	0	0.006230	0	0
R3HDM4	91300	broad.mit.edu	37	19	899633	899633	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:899633G>A	ENST00000361574.5	-	6	688	c.615C>T	c.(613-615)ccC>ccT	p.P205P	R3HDM4_ENST00000587975.1_Silent_p.P184P	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	205	R3H.					nucleus	nucleic acid binding										ACACGGCCTGGGGGGACACGG	0.692000													6	13					0	0	0.001168	0	0
ACKR3	57007	broad.mit.edu	37	2	237489121	237489121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237489121C>T	ENST00000272928.3	+	2	323	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GGATCTGCATCTCTTCGACTA	0.488000													20	15					0	0	0.001523	0	0
GIPR	2696	broad.mit.edu	37	19	46176156	46176156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46176156G>A	ENST00000590918.1	+	5	427	c.328G>A	c.(328-330)Gga>Aga	p.G110R	GIPR_ENST00000304207.8_Missense_Mutation_p.G74R|GIPR_ENST00000263281.3_Missense_Mutation_p.G110R	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	110					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGGCCAATGGGGACTTTGGAG	0.502000													16	52					0	0	0.007413	0	0
RNF220	55182	broad.mit.edu	37	1	45101295	45101295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:45101295C>T	ENST00000443020.2	+	6	503	c.311C>T	c.(310-312)tCg>tTg	p.S104L	TMEM53_ENST00000372243.3_3'UTR|TMEM53_ENST00000372244.3_3'UTR|RNF220_ENST00000372247.2_Intron|RNF220_ENST00000361799.2_Intron|RNF220_ENST00000355387.2_Intron|TMEM53_ENST00000372242.3_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	331					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTGGCAGGATCGGAGCAGGAG	0.577000													17	25					0	0	0.001216	0	0
MORC1	27136	broad.mit.edu	37	3	108724056	108724056	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108724056A>G	ENST00000232603.5	-	19	1956	c.1874T>C	c.(1873-1875)aTa>aCa	p.I625T	MORC1_ENST00000483760.1_Missense_Mutation_p.I604T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	625					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTCTCTTCTATGTTTCTTTT	0.388000													14	43					0	0	0.002450	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382115	41382115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41382115C>T	ENST00000377801.3	-	2	699	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G209R			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	209					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCATCTGCCCAGGCCAGAGA	0.512000													17	37					0	0	0.004990	0	0
TTLL4	9654	broad.mit.edu	37	2	219617591	219617591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219617591C>T	ENST00000392102.1	+	17	3422	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	TTLL4_ENST00000258398.4_Missense_Mutation_p.P1028S|TTLL4_ENST00000442769.1_Missense_Mutation_p.P964S|TTLL4_ENST00000457313.1_Missense_Mutation_p.P863S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1028					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACGAATTTTTCCTTCTCATAT	0.453000													39	74					0	0	0.001951	0	0
CSTF1	1477	broad.mit.edu	37	20	54974321	54974321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:54974321C>T	ENST00000217109.4	+	5	1296	c.944C>T	c.(943-945)tCc>tTc	p.S315F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	315					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GCCATTTTTTCCAAAAATTCT	0.403000													19	66					0	0	0.007413	0	0
PKP4	8502	broad.mit.edu	37	2	159530253	159530253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:159530253C>T	ENST00000389757.3	+	18	3114	c.2989C>T	c.(2989-2991)Ctc>Ttc	p.L997F	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.L997F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	997					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATATCGGGACCTCCGGAGCAT	0.398000										HNSCC(62;0.18)			15	18					0	0	0.003163	0	0
RBKS	64080	broad.mit.edu	37	2	28004589	28004589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:28004589C>T	ENST00000302188.3	-	8	1614	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	288					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCATGTCTTCCAAGGACAGA	0.458000													35	33					0	0	0.006999	0	0
TMEM225	338661	broad.mit.edu	37	11	123755324	123755324	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:123755324C>T	ENST00000375026.2	-	2	417	c.201G>A	c.(199-201)agG>agA	p.R67R		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	67						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCATCATAATCCTGACCACTT	0.408000													8	7					0	0	0.000673	0	0
AGAP3	116988	broad.mit.edu	37	7	150835375	150835375	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150835375C>T	ENST00000397238.2	+	12	1641	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	511	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCACCACTTCCCTGCCCCCAG	0.682000													34	4					0	0	0.007835	0	0
ZNF888	388559	broad.mit.edu	37	19	53418540	53418540	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53418540G>A	ENST00000596623.1	-	0	459									zinc finger protein 888																		CCTCCTGAGAGAATTCTATGG	0.438000													32	160					0	0	0.002522	0	0
HELB	92797	broad.mit.edu	37	12	66709072	66709072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66709072C>T	ENST00000247815.4	+	6	1968	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	637					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCTGAAAGATCTTTTTGAGAC	0.353000													23	259					0	0	0.003954	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142688	156142688	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156142688G>A	ENST00000368285.3	+	11	1473	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	SEMA4A_ENST00000368284.1_Silent_p.V270V|SEMA4A_ENST00000368282.1_Silent_p.V402V|SEMA4A_ENST00000355014.2_Silent_p.V402V|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.V270V	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	402	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATGAGCAAGTGGTGGGGACGC	0.572000													59	60					0	0	0.003610	0	0
PDIA2	64714	broad.mit.edu	37	16	333322	333322	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:333322C>T	ENST00000219406.6	+	1	171	c.153C>T	c.(151-153)acC>acT	p.T51T	PDIA2_ENST00000404312.1_Silent_p.T51T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	51	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCGCCACACCCTGGGCCTGG	0.697000													7	22					0	0	0.004482	0	0
COL4A6	1288	broad.mit.edu	37	X	107415711	107415711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107415711G>A	ENST00000394872.2	-	32	3424	c.3193C>T	c.(3193-3195)Cca>Tca	p.P1065S	COL4A6_ENST00000545689.1_Missense_Mutation_p.P1064S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1064S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1064S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1065S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1065	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCAGGCCTGGGAGACCAGAT	0.458000									Alport syndrome with Diffuse Leiomyomatosis				48	66					0	0	0.003610	0	0
ATG2B	55102	broad.mit.edu	37	14	96790332	96790332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:96790332G>A	ENST00000359933.4	-	16	3334	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCTGGAACGATCCTAAAAA	0.398000													16	6					0	0	0.004990	0	0
CARD14	79092	broad.mit.edu	37	17	78162266	78162266	+	Missense_Mutation	SNP	G	G	A	rs144570537		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78162266G>A	ENST00000573882.1	+	7	1302	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CARD14_ENST00000344227.2_Missense_Mutation_p.D256N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.D19N|CARD14_ENST00000570421.1_Missense_Mutation_p.D256N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	256					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGCCAGCGACCAGGAGTC	0.592000													19	37					0	0	0.001882	0	0
DROSHA	29102	broad.mit.edu	37	5	31526376	31526376	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526376G>C	ENST00000511367.2	-	4	908	c.664C>G	c.(664-666)Cca>Gca	p.P222A	DROSHA_ENST00000442743.1_Missense_Mutation_p.P222A|DROSHA_ENST00000513349.1_Missense_Mutation_p.P222A|DROSHA_ENST00000344624.3_Missense_Mutation_p.P222A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	222	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCCTTTCTGGGGACCTTCTC	0.567000													9	46					0	0	0.006214	0	0
MYOM3	127294	broad.mit.edu	37	1	24387573	24387573	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:24387573C>T	ENST00000330966.7	-	35	4143		c.e35-1		RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Splice_Site|MYOM3_ENST00000374434.3_Splice_Site			Q5VTT5	MYOM3_HUMAN	myomesin 3											NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCAAGGTTCTGAAAAACAG	0.488000													11	24					0	0	0.002450	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823074	16823074	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:16823074G>A	ENST00000262067.4	+	6	1006	c.573G>A	c.(571-573)agG>agA	p.R191R		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	191						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		ACAGATACAGGAACCAGAAAG	0.358000													71	202					0	0	0.003610	0	0
PDE5A	8654	broad.mit.edu	37	4	120419785	120419785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:120419785C>T	ENST00000354960.3	-	21	2918	c.2599G>A	c.(2599-2601)Ggg>Agg	p.G867R	PDE5A_ENST00000394439.1_Missense_Mutation_p.G815R|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.G825R	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	867					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)	CCGCTTTCCCCATTAATCAGC	0.493000													21	39					0	0	0.002780	0	0
STAB2	55576	broad.mit.edu	37	12	104077010	104077010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:104077010C>T	ENST00000388887.2	+	26	3037	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	945	EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAAGGATTTCGAGGAAATGG	0.383000													31	6					0	0	0.004289	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891336	30891336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30891336C>T	ENST00000392772.2	-	5	443	c.166G>A	c.(166-168)Ggt>Agt	p.G56S	SEC14L4_ENST00000540456.1_Missense_Mutation_p.G95S|SEC14L4_ENST00000381982.3_Missense_Mutation_p.G110S|SEC14L4_ENST00000255858.7_Missense_Mutation_p.G110S			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	110						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCAGGAGACCCTTGGGGTCG	0.542000													51	5					0	0	0.003610	0	0
LAMA5	3911	broad.mit.edu	37	20	60886054	60886054	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60886054G>A	ENST00000252999.3	-	74	10251	c.10185C>T	c.(10183-10185)ttC>ttT	p.F3395F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3395	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTGCTCAGGAAGAGCGCCA	0.697000													6	45					0	0	0.001984	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30419644C>T	ENST00000375994.2	+	10	1836	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_ENST00000375985.4_Silent_p.I521I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000													41	24					0	0	0.001951	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6042423	6042423	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:6042423C>T	ENST00000409021.3	-	18	2567	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	JAKMIP1_ENST00000409371.3_Silent_p.K521K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	477					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGGTAGCCCTTCTGCCTGC	0.557000													6	11					0	0	0.003080	0	0
JMJD4	65094	broad.mit.edu	37	1	227923013	227923013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227923013C>T	ENST00000366758.3	-	1	99	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	JMJD4_ENST00000438896.2_Missense_Mutation_p.E34K|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	34								p.E34K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCCTCACTTCCGCCGGAGCG	0.711000													13	7					0	0	0.001855	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207319	135207319	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:135207319C>T	ENST00000274513.5	+	5	763	c.591C>T	c.(589-591)atC>atT	p.I197I	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.I143I|SLC25A48_ENST00000420621.1_Silent_p.I197I|SLC25A48_ENST00000412661.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	197					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCTACTTCATCCCCTACGTGT	0.627000													37	16					0	0	0.007835	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													22	53					0	0	0.002780	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146930	70146930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70146930G>A	ENST00000335568.5	+	1	714	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E238K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	238					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTTTTACAGTGAAGTTTTAGG	0.343000													21	43					0	0	0.003330	0	0
VWF	7450	broad.mit.edu	37	12	6174349	6174349	+	Missense_Mutation	SNP	C	C	T	rs137950753		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6174349C>T	ENST00000261405.5	-	11	1501	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	416	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCAATCCCGGGCCAGCAG	0.562000													12	9					0	0	0.001855	0	0
BAZ1A	11177	broad.mit.edu	37	14	35253105	35253105	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:35253105G>A	ENST00000360310.1	-	15	2427	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	BAZ1A_ENST00000358716.4_Silent_p.L588L|BAZ1A_ENST00000382422.2_Silent_p.L620L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	620					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTTTCCACAGAGAGCATGGA	0.343000													18	41					0	0	0.006122	0	0
COL15A1	1306	broad.mit.edu	37	9	101748166	101748166	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101748166G>A	ENST00000375001.3	+	3	843	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	140	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACTACACGGAGCCAGGCTCCC	0.602000													19	50					0	0	0.001216	0	0
THSD7A	221981	broad.mit.edu	37	7	11676536	11676536	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:11676536C>T	ENST00000423059.3	-	2	494	c.243G>A	c.(241-243)acG>acA	p.T81T	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	81	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACAGCCCTCGTTTGGATGC	0.458000										HNSCC(18;0.044)			48	120					0	0	0.003610	0	0
CR1	1378	broad.mit.edu	37	1	207679396	207679396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207679396C>T	ENST00000367049.4	+	2	269	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CR1_ENST00000400960.2_Missense_Mutation_p.S90L|CR1_ENST00000367052.1_Missense_Mutation_p.S90L|CR1_ENST00000367053.1_Missense_Mutation_p.S90L|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.S90L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	90	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.S95L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTAAAAAACTCAGTCTGGACT	0.438000													112	52					0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27026845	27026845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27026845C>T	ENST00000314616.6	+	33	4778	c.4495C>T	c.(4495-4497)Cag>Tag	p.Q1499*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1499*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1499					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTACCGGGGCCAGATCTTCCC	0.493000													24	140					0	0	0.003954	0	0
TRPC5	7224	broad.mit.edu	37	X	111097282	111097282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:111097282C>T	ENST00000262839.2	-	4	1871	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	318					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCAGGGAAGCCATCATACCA	0.498000													16	4					0	0	0.004007	0	0
ZNF517	340385	broad.mit.edu	37	8	146033412	146033412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:146033412C>T	ENST00000359971.3	+	5	1218	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	ZNF517_ENST00000531720.1_Missense_Mutation_p.P371S|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCACGAGTGCCCGGTGTGCGG	0.746000													3	4					0	0	0.004672	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316651	39316651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39316651G>A	ENST00000390661.3	-	1	332	c.293C>T	c.(292-294)aCc>aTc	p.T98I		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	98	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCAGGTGGTCCTACAGCA	0.657000													16	40					0	0	0.006122	0	0
C10orf82	143379	broad.mit.edu	37	10	118424405	118424405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:118424405C>T	ENST00000369210.3	-	4	382	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	C10orf82_ENST00000588184.1_Missense_Mutation_p.G110S	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	110										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GGCAGGTAGCCTGCCCAGCCA	0.488000													44	56					0	0	0.003610	0	0
PLCB2	5330	broad.mit.edu	37	15	40589094	40589094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40589094G>A	ENST00000260402.3	-	14	1588	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	PLCB2_ENST00000456256.2_Missense_Mutation_p.P447S|PLCB2_ENST00000557821.1_Missense_Mutation_p.P447S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	447	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGGGCAGGGGGACACCTGGT	0.552000													27	30					0	0	0.001786	0	0
PRDM16	63976	broad.mit.edu	37	1	3319459	3319459	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:3319459T>A	ENST00000378398.3	+	7	866	c.784T>A	c.(784-786)Tac>Aac	p.Y262N	PRDM16_ENST00000514189.1_Missense_Mutation_p.Y262N|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y262N|PRDM16_ENST00000270722.5_Missense_Mutation_p.Y261N|PRDM16_ENST00000442529.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	261					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCTGCGCTCTACGAGGGCCT	0.637000			T	EVI1	"""MDS, AML"""								17	5					0	0	0.007413	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712380	31712380	+	Missense_Mutation	SNP	C	C	T	rs145049164	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:31712380C>T	ENST00000396556.2	-	9	1944	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G544R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	608					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTTTCCTCCGAGCTCCACC	0.557000													21	80					0	0	0.001882	0	0
AHSP	51327	broad.mit.edu	37	16	31539877	31539877	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31539877G>A	ENST00000302312.4	+	3	277	c.174G>A	c.(172-174)ggG>ggA	p.G58G	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	58					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGTGACAGGGGAGCCCCAAG	0.532000													37	22					0	0	0.005524	0	0
CSMD3	114788	broad.mit.edu	37	8	113267556	113267556	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113267556G>A	ENST00000297405.5	-	62	10207	c.9963C>T	c.(9961-9963)ttC>ttT	p.F3321F	CSMD3_ENST00000352409.3_Silent_p.F3251F|CSMD3_ENST00000455883.2_Silent_p.F3152F|CSMD3_ENST00000343508.3_Silent_p.F3281F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3321	Sushi 26.					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						CCACTAATATGAAAGGAAAAT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	29					0	0	0.001882	0	0
PARP8	79668	broad.mit.edu	37	5	50055551	50055551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:50055551C>T	ENST00000281631.5	+	4	417	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Missense_Mutation_p.H87Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H66Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H87Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H87Y|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	87						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATTTTTCATAGAATAGC	0.254000													13	46					0	0	0.004990	0	0
NCKAP5	344148	broad.mit.edu	37	2	133636465	133636465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:133636465C>T	ENST00000409261.1	-	9	977	c.604G>A	c.(604-606)Gag>Aag	p.E202K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E202K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E202K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E202K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	202							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTCATTCTCCAAAGCCAAC	0.398000													16	58					0	0	0.007413	0	0
RSAD1	55316	broad.mit.edu	37	17	48559688	48559688	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48559688C>T	ENST00000258955.2	+	4	796	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	237					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGCACTCTTCGCCCAGGTGC	0.682000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	86					0	0	0.004289	0	0
FAM98B	283742	broad.mit.edu	37	15	38773740	38773740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38773740C>T	ENST00000491535.1	+	7	985	c.977C>T	c.(976-978)tCt>tTt	p.S326F	FAM98B_ENST00000397609.2_Intron	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	326						tRNA-splicing ligase complex	protein binding	p.S326F(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GTCTATTTTTCTTTCATGTCC	0.333000													17	16					0	0	0.001882	0	0
SERINC4	619189	broad.mit.edu	37	15	44087899	44087899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:44087899C>T	ENST00000299969.6	-	8	1098	c.953G>A	c.(952-954)tGg>tAg	p.W318*	SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.V148V|SERINC4_ENST00000319327.6_Silent_p.V392V|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR			A6NH21	SERC4_HUMAN	serine incorporator 4	0					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTGCCTCCACTGTTTCAG	0.463000													14	72					0	0	0.003163	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114199	75114199	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75114199C>T	ENST00000309664.5	+	10	1228	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	LMAN1L_ENST00000379709.3_Silent_p.S351S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	363						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATTCCATCCACCCCAGGGA	0.612000													46	60					0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29623237	29623237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29623237G>A	ENST00000278882.3	+	3	429	c.49G>A	c.(49-51)Gag>Aag	p.E17K	FRG1B_ENST00000439954.2_Missense_Mutation_p.G18E|FRG1B_ENST00000358464.4_Missense_Mutation_p.E17K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTACCCTGGGAGCTCCACAC	0.413000													23	647					0	0	0.002780	0	0
NBEA	26960	broad.mit.edu	37	13	36167498	36167498	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:36167498G>A	ENST00000379922.3	+	0	356				NBEA_ENST00000540320.1_Missense_Mutation_p.D2404N|NBEA_ENST00000400445.3_Missense_Mutation_p.D2404N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2401N|NBEA_ENST00000310336.4_Missense_Mutation_p.D2404N|NBEA_ENST00000537702.1_Missense_Mutation_p.D197N			Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.D2404Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAATGCAAATGATGGAAAATT	0.398000													24	33					0	0	0.004656	0	0
EPRS	2058	broad.mit.edu	37	1	220192380	220192380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220192380C>T	ENST00000366923.3	-	11	1660	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	464	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGTCATCCCTCTTCTCAGTAC	0.393000													19	76					0	0	0.002299	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349645	38349645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38349645C>T	ENST00000436615.3	+	14	1712	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R408C|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.R463C|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R457C	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	614					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAGGACAATCCGCAAATACCG	0.552000													31	104					0	0	0.002445	0	0
COL25A1	84570	broad.mit.edu	37	4	110223081	110223081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:110223081G>A	ENST00000399132.1	-	2	625	c.95C>T	c.(94-96)cCc>cTc	p.P32L	COL25A1_ENST00000399127.1_Missense_Mutation_p.P32L|COL25A1_ENST00000399126.1_Missense_Mutation_p.P32L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	32						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCACACGGGGGCATGGTCCG	0.667000													18	5					0	0	0.006122	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136405855	136405855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:136405855G>A	ENST00000393061.3	+	6	1307	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G183E|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G183E			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	183					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCGTGTCTGGAAAATGTGAG	0.647000													18	30					0	0	0.001216	0	0
SACS	26278	broad.mit.edu	37	13	23928006	23928006	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23928006G>A	ENST00000382298.3	-	9	2691	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.F701F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	701					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)		CAAGACTTGGGAAAAGGGACC	0.368000													19	28					0	0	0.002299	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671648	160671648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160671648C>T	ENST00000366952.1	-	5	2023	c.542G>A	c.(541-543)tGg>tAg	p.W181*	SLC22A2_ENST00000366953.3_Nonsense_Mutation_p.W202*|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	202					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AATTAACATCCACGTATAGGT	0.458000													42	15					0	0	0.002522	0	0
LRRC32	2615	broad.mit.edu	37	11	76371921	76371921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:76371921G>A	ENST00000407242.2	-	3	958	c.716C>T	c.(715-717)cCc>cTc	p.P239L	LRRC32_ENST00000260061.5_Missense_Mutation_p.P239L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.P239L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	239						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTCAGCCTGGGGCTGGGAGGC	0.607000													27	24					0	0	0.007291	0	0
FAT2	2196	broad.mit.edu	37	5	150901330	150901330	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150901330G>A	ENST00000261800.5	-	18	10836	c.10824C>T	c.(10822-10824)acC>acT	p.T3608T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3608	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTGGTGAAGGTCCCATCGC	0.632000													10	30					0	0	0.000673	0	0
CACNA1B	774	broad.mit.edu	37	9	140809148	140809148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140809148C>T	ENST00000371372.1	+	5	810	c.665C>T	c.(664-666)cCa>cTa	p.P222L	CACNA1B_ENST00000371355.4_Missense_Mutation_p.P222L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P222L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P222L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P222L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	222					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCATGGTTCCACTCCTGCAG	0.547000													6	21					0	0	0.001984	0	0
WDR47	22911	broad.mit.edu	37	1	109554153	109554153	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109554153A>G	ENST00000357672.3	-	4	806	c.431T>C	c.(430-432)gTt>gCt	p.V144A	WDR47_ENST00000400794.3_Missense_Mutation_p.V179A|WDR47_ENST00000369962.3_Missense_Mutation_p.V172A|WDR47_ENST00000369965.4_Missense_Mutation_p.V172A|WDR47_ENST00000361054.3_Missense_Mutation_p.V144A			O94967	WDR47_HUMAN	WD repeat domain 47	172										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAATTCTGCAACCATGACACA	0.438000													148	265					0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31572598	31572598	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:31572598T>C	ENST00000379416.3	-	26	2971	c.2923A>G	c.(2923-2925)Agc>Ggc	p.S975G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	975					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TACTGAGAGCTTGCTAGGCAT	0.483000													35	79					0	0	0.004878	0	0
VIT	5212	broad.mit.edu	37	2	36986174	36986174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:36986174C>T	ENST00000379242.3	+	6	774	c.472C>T	c.(472-474)Cca>Tca	p.P158S	VIT_ENST00000389975.3_Missense_Mutation_p.P158S|VIT_ENST00000404084.1_Missense_Mutation_p.P136S|VIT_ENST00000379241.3_Missense_Mutation_p.P158S|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.P158S|VIT_ENST00000457137.2_Missense_Mutation_p.P158S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	158						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCGAAAAGTCCAGCTGCCCA	0.408000													25	80					0	0	0.005443	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548767	102548767	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102548767G>A	ENST00000334701.7	-	11	2417	c.2136C>T	c.(2134-2136)aaC>aaT	p.N712N	HSP90AA1_ENST00000216281.8_Silent_p.N590N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	590	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCACCAATCGGTTTGACACAA	0.388000													21	3					0	0	0.001882	0	0
TAF1L	138474	broad.mit.edu	37	9	32634978	32634978	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32634978C>T	ENST00000242310.4	-	1	689	c.600G>A	c.(598-600)gtG>gtA	p.V200V	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	200					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)		TACTGAAATCCACTTTCTCTG	0.473000													26	28					0	0	0.006320	0	0
MXRA5	25878	broad.mit.edu	37	X	3229399	3229399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3229399C>T	ENST00000217939.6	-	7	6999	c.6845G>A	c.(6844-6846)gGg>gAg	p.G2282E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2282	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACCAGACTCCCGTCTGGGAG	0.567000													28	27					0	0	0.005443	0	0
TTI2	80185	broad.mit.edu	37	8	33367348	33367348	+	Silent	SNP	G	G	A	rs138257989	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:33367348G>A	ENST00000431156.2	-	3	1368	c.750C>T	c.(748-750)ccC>ccT	p.P250P	TTI2_ENST00000520636.1_Silent_p.P250P|TTI2_ENST00000360742.5_Silent_p.P250P	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	250							binding										CCAATGATGCGGGAAGTACCC	0.478000													20	8					0	0	0.001523	0	0
RAD51C	5889	broad.mit.edu	37	17	56774133	56774133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56774133G>A	ENST00000337432.4	+	3	555	c.484G>A	c.(484-486)Gga>Aga	p.G162R	RAD51C_ENST00000583539.1_Missense_Mutation_p.G162R|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	162					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATACAGAGGGAAGTTTTAT	0.423000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				18	63					0	0	0.001216	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886130	24886130	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24886130C>T	ENST00000382554.3	+	9	5493	c.5175C>T	c.(5173-5175)gcC>gcT	p.A1725A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1725	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCAAGAGGGCCCTCAAGGAGT	0.642000													10	14					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417836	25417836	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25417836C>T	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA																							ACTTAAAAATCATGCTCAATA	0.527000													57	165					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136567394	136567394	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:136567394G>A	ENST00000264162.2	-	8	2533	c.2523C>T	c.(2521-2523)atC>atT	p.I841I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	841	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTTTTCTATGATGCTAGTGA	0.493000													55	131					0	0	0.003610	0	0
NAALAD2	10003	broad.mit.edu	37	11	89924813	89924813	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89924813T>C	ENST00000375944.3	+	7	905	c.884T>C	c.(883-885)aTa>aCa	p.I295T	NAALAD2_ENST00000534061.1_Silent_p.N707N|NAALAD2_ENST00000321955.4_Silent_p.N674N			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	665	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATTGAAAATAAAGCCAACT	0.358000													45	27					0	0	0.002852	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834716	125834716	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:125834716G>A	ENST00000299308.3	+	2	779	c.771G>A	c.(769-771)gaG>gaA	p.E257E		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	257						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)		CAGCCCGAGAGAGGATTGGGA	0.567000													59	13					0	0	0.003610	0	0
ARSA	410	broad.mit.edu	37	22	51063675	51063675	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51063675G>A	ENST00000547307.1	-	8	1827	c.1422C>T	c.(1420-1422)ccC>ccT	p.P474P	ARSA_ENST00000547805.1_Silent_p.P474P|ARSA_ENST00000395619.3_Silent_p.P476P|ARSA_ENST00000356098.5_Silent_p.P476P|ARSA_ENST00000216124.5_Silent_p.P476P|ARSA_ENST00000453344.2_Silent_p.P390P|ARSA_ENST00000395621.3_Silent_p.P476P			P15289	ARSA_HUMAN	arylsulfatase A	474						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCACCTGGCTGGGGCCGAAGG	0.682000													33	18					0	0	0.002445	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169682	42169682	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42169682C>T	ENST00000373135.3	+	19	2365	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	L3MBTL1_ENST00000427442.2_Silent_p.L813L|L3MBTL1_ENST00000418998.1_Silent_p.L813L|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AAAAGGCATCCTGGAGACAGG	0.473000													23	93					0	0	0.003330	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385893	65385893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65385893C>T	ENST00000355703.3	+	6	1599	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	354						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCGGGGTCCCCTCAGATGA	0.692000													3	9					0	0	0.004672	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222195	91222195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91222195C>T	ENST00000341233.4	-	3	441	c.51G>A	c.(49-51)tgG>tgA	p.W17*	RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.W47*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	17						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCATCCAGCCCCAGCCTCCAT	0.463000													16	80					0	0	0.006122	0	0
RPL10L	140801	broad.mit.edu	37	14	47120507	47120507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:47120507C>T	ENST00000298283.3	-	1	521	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	145					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.E145K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ACATGCTCCTCGTTCTGAAGC	0.527000													20	32					0	0	0.002780	0	0
ARPC1A	10552	broad.mit.edu	37	7	98983391	98983391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:98983391G>A	ENST00000432884.2	+	12	1461	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	ARPC1B_ENST00000451682.1_Silent_p.K18K|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.K18K			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	0					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGGAACAAGGACCGCACCC	0.647000													29	2					0	0	0.002096	0	0
COL18A1	80781	broad.mit.edu	37	21	46888697	46888697	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:46888697C>T	ENST00000359759.4	+	2	1914	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	COL18A1_ENST00000400337.2_Silent_p.F216F|COL18A1_ENST00000355480.5_Silent_p.F396F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	631	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGACAAGTTCCAGGTAACCC	0.697000													5	5					0	0	0.001168	0	0
RGS11	8786	broad.mit.edu	37	16	321272	321272	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:321272G>A	ENST00000397770.3	-	12	809	c.792C>T	c.(790-792)ctC>ctT	p.L264L	RGS11_ENST00000316163.5_Silent_p.L243L|RGS11_ENST00000359740.5_Silent_p.L253L|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	264	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCCCGACACGAGGGGATCGT	0.667000													7	20					0	0	0.004482	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143380	61143380	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61143380C>T	ENST00000475015.1	-	0	958				C20orf166-AS1_ENST00000412495.1_RNA																							GGTGTCTGCCCCGTCGGCTGA	0.647000													7	31					0	0	0.003080	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804439	14804439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:14804439G>A	ENST00000261170.3	-	15	1748	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	538	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TAGTCAATCTGAAGCAACTAG	0.398000													10	27					0	0	0.000978	0	0
TAF1L	138474	broad.mit.edu	37	9	32634945	32634945	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32634945C>T	ENST00000242310.4	-	1	722	c.633G>A	c.(631-633)gaG>gaA	p.E211E	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	211					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)		GAGGTCCCATCTCAGATTCTG	0.483000													23	45					0	0	0.003954	0	0
KIF27	55582	broad.mit.edu	37	9	86504034	86504034	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:86504034A>C	ENST00000297814.2	-	7	2087	c.1944T>G	c.(1942-1944)gaT>gaG	p.D648E	KIF27_ENST00000334204.2_Missense_Mutation_p.D648E|KIF27_ENST00000413982.1_Missense_Mutation_p.D648E|KIF27_ENST00000376347.1_Missense_Mutation_p.D39E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	648					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGATTCTTCATCATCACTGT	0.343000													27	43					0	0	0.007291	0	0
CDK8	1024	broad.mit.edu	37	13	26975749	26975749	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:26975749C>T	ENST00000381527.3	+	12	1760	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTATCATGACCTCAGACTATC	0.428000													17	39					0	0	0.001523	0	0
OR4K17	390436	broad.mit.edu	37	14	20585856	20585856	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20585856C>T	ENST00000315543.4	+	1	291	c.291C>T	c.(289-291)ctC>ctT	p.L97L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGGTAATCTCTCTTTTGTAG	0.388000													112	146					0	0	0.003610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956242	18956242	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18956242G>A	ENST00000302797.3	-	1	314	c.90C>T	c.(88-90)ctC>ctT	p.L30L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	30					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCACCGTGAGGCTCAAGG	0.552000													74	24					0	0	0.003610	0	0
ERCC6	2074	broad.mit.edu	37	10	50682238	50682238	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50682238G>A	ENST00000355832.5	-	13	2511	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	ERCC6_ENST00000542458.1_Silent_p.L181L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	811					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCAGAAAAGAGATCAGGGT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					13	56					0	0	0.004990	0	0
RGS3	5998	broad.mit.edu	37	9	116269610	116269610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:116269610C>T	ENST00000374140.2	+	14	1338	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	RGS3_ENST00000394646.3_Missense_Mutation_p.P96S|RGS3_ENST00000374136.1_Missense_Mutation_p.P3S|RGS3_ENST00000350696.5_Missense_Mutation_p.P377S|RGS3_ENST00000317613.6_Missense_Mutation_p.P265S|RGS3_ENST00000343817.5_Missense_Mutation_p.P96S	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	377					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCGCATGGTCCCCCAGGTCAA	0.617000													9	26					0	0	0.006214	0	0
RUNX2	860	broad.mit.edu	37	6	45296521	45296521	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:45296521G>A	ENST00000371438.1	+	1	416	c.58_splice	c.e1+1	p.D20_splice	RUNX2_ENST00000541979.1_Splice_Site_p.D88_splice|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000576263.1_Splice_Site_p.D20_splice|RUNX2_ENST00000352853.5_Splice_Site_p.D88_splice|RUNX2_ENST00000465038.2_Splice_Site_p.D20_splice|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371436.6_Splice_Site_p.D20_splice	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	20					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCTTTTGGGGTAAGTGTTA	0.358000													39	22					0	0	0.002852	0	0
OR13G1	441933	broad.mit.edu	37	1	247835746	247835746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247835746C>T	ENST00000359688.2	-	1	619	c.598G>A	c.(598-600)Gat>Aat	p.D200N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGGTAATATCAGCAACATAC	0.458000													19	72					0	0	0.001882	0	0
ACTN2	88	broad.mit.edu	37	1	236925806	236925806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236925806C>T	ENST00000366578.4	+	21	2738	c.2572C>T	c.(2572-2574)Cag>Tag	p.Q858*	ACTN2_ENST00000546208.1_Nonsense_Mutation_p.Q352*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q858*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	858					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCCCCGGATCAGGCCCAGTA	0.577000													23	20					0	0	0.003954	0	0
ACSBG1	23205	broad.mit.edu	37	15	78486327	78486327	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78486327G>A	ENST00000258873.4	-	4	694	c.489C>T	c.(487-489)ctC>ctT	p.L163L	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	163					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGTTGAAGCCGAGGATGGCCA	0.662000													12	45					0	0	0.001855	0	0
CANT1	124583	broad.mit.edu	37	17	76993104	76993104	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76993104G>A	ENST00000302345.2	-	2	1095	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	CANT1_ENST00000591773.1_Silent_p.L201L|CANT1_ENST00000392446.5_Silent_p.L201L	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	201					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGTCGGACAGAATCACCCAG	0.587000			T	ETV4	prostate								63	207					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23893175	23893175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23893175C>T	ENST00000355349.3	-	23	3025	c.2863G>A	c.(2863-2865)Gat>Aat	p.D955N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	955					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGATCATCGATGTCCCTT	0.542000													6	139					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20959876C>T	ENST00000261383.3	-	57	11271	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3758					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAATTTCCTTACAGTAG	0.532000													22	34					0	0	0.002780	0	0
FIP1L1	81608	broad.mit.edu	37	4	54294293	54294293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:54294293C>T	ENST00000337488.6	+	13	1311	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	FIP1L1_ENST00000306932.6_Missense_Mutation_p.P299S|FIP1L1_ENST00000507922.1_Missense_Mutation_p.P358S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P358S|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	373	Pro-rich.				mRNA processing	nucleus	RNA binding	p.P373T(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			tccacctcctccatttcttcc	0.463000			T	PDGFRA	idiopathic hypereosinophilic syndrome								18	12					0	0	0.007413	0	0
FFAR3	2865	broad.mit.edu	37	19	35849881	35849881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35849881C>T	ENST00000327809.4	+	2	290	c.89C>T	c.(88-90)cCc>cTc	p.P30L	FFAR3_ENST00000594310.1_Missense_Mutation_p.P30L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	30						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGGCTCCCCCTCAACCTG	0.647000													37	49					0	0	0.003610	0	0
GRHL1	29841	broad.mit.edu	37	2	10105480	10105480	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10105480C>T	ENST00000324907.9	+	8	1216	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	GRHL1_ENST00000405379.2_Silent_p.S360S|GRHL1_ENST00000324883.5_Silent_p.S171S	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	360					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACGCCATTTCCTTCACATGGG	0.438000													23	55					0	0	0.003954	0	0
RFTN2	130132	broad.mit.edu	37	2	198436869	198436869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:198436869C>T	ENST00000295049.3	-	9	1905	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	457						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTCCAGCATTCCCGGGAGGGA	0.547000													19	36					0	0	0.001216	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480344	102480344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:102480344C>T	ENST00000324219.4	+	17	2002	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S538F|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron			O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	577					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGATCCCATTCCTTCAGTGAC	0.493000													167	152					0	0	0.003610	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422341	70422341	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:70422341G>A	ENST00000393640.4	-	3	2749	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.F214F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	214					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GCACCAGCACGAAGCTGACGT	0.592000													76	73					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168099701	168099701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168099701C>T	ENST00000409195.1	+	9	1888	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S378F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S600F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	425					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGATATTTCCAGGGGCATT	0.433000													10	20					0	0	0.001368	0	0
PCSK5	5125	broad.mit.edu	37	9	78638706	78638706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78638706C>T	ENST00000545128.1	+	4	1002	c.464C>T	c.(463-465)gCc>gTc	p.A155V	PCSK5_ENST00000376767.3_Missense_Mutation_p.A155V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A155V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	155	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATCGAAGGAGCCTGGAAGAGA	0.453000													21	31					0	0	0.003954	0	0
LY75	4065	broad.mit.edu	37	2	160732004	160732004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160732004G>A	ENST00000263636.4	-	12	1952	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	LY75_ENST00000554112.1_Missense_Mutation_p.P642L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P642L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P642L|LY75_ENST00000553424.1_Missense_Mutation_p.P642L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGGACAGGGGTCATCAGG	0.458000													32	52					0	0	0.003755	0	0
FBXO40	51725	broad.mit.edu	37	3	121341031	121341031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121341031C>T	ENST00000338040.4	+	3	1169	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	252					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAACAGATTTCCAGTGGCCAT	0.458000													8	23					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152461226	152461226	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152461226G>A	ENST00000367255.5	-	140	25918	c.25317C>T	c.(25315-25317)ctC>ctT	p.L8439L	SYNE1_ENST00000539504.1_Silent_p.L594L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.L8051L|SYNE1_ENST00000356820.4_Silent_p.L2963L|SYNE1_ENST00000354674.4_Silent_p.L617L|SYNE1_ENST00000265368.4_Silent_p.L8439L|SYNE1_ENST00000448038.1_Silent_p.L8391L|SYNE1_ENST00000423061.1_Silent_p.L8391L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8439					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCACTTCTGGAGGTTCTGCT	0.547000										HNSCC(10;0.0054)			22	43					0	0	0.002299	0	0
PLEC	5339	broad.mit.edu	37	8	144992838	144992838	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144992838G>A	ENST00000322810.4	-	32	11731	c.11562C>T	c.(11560-11562)gcC>gcT	p.A3854A	PLEC_ENST00000354589.3_Silent_p.A3717A|PLEC_ENST00000345136.3_Silent_p.A3717A|PLEC_ENST00000527096.1_Silent_p.A3740A|PLEC_ENST00000398774.2_Silent_p.A3685A|PLEC_ENST00000354958.2_Silent_p.A3695A|PLEC_ENST00000436759.2_Silent_p.A3744A|PLEC_ENST00000356346.3_Silent_p.A3703A|PLEC_ENST00000357649.2_Silent_p.A3721A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3854	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						GGGCCACCTCGGCACTCAGCA	0.652000													50	30					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508720	71508720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71508720G>A	ENST00000396073.3	+	9	1858	c.1577G>A	c.(1576-1578)aGg>aAg	p.R526K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	526					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGGTCAAGAAGGATGCCATAT	0.418000													34	30					0	0	0.002445	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019596	76019596	+	Silent	SNP	C	C	T	rs114593678	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76019596C>T	ENST00000332145.2	+	4	763	c.540C>T	c.(538-540)taC>taT	p.Y180Y		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	180										kidney(1)|lung(1)	2						CTCCCTGCTACAGTCTGGCCT	0.602000													35	41					0	0	0.002445	0	0
IGSF1	3547	broad.mit.edu	37	X	130412483	130412483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130412483C>T	ENST00000370904.1	-	18	2876	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E670K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E665K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E656K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	665	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACAGCCATCTCCTCCCATGAA	0.637000													46	56					0	0	0.003610	0	0
ZNF474	133923	broad.mit.edu	37	5	121488171	121488171	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121488171G>A	ENST00000296600.4	+	2	869	c.486G>A	c.(484-486)caG>caA	p.Q162Q	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	162						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGAGTGCCCAGGCTCAGCTGC	0.547000													16	35					0	0	0.001523	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428000													22	34					0	0	0.003330	0	0
CENPF	1063	broad.mit.edu	37	1	214794131	214794131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214794131C>T	ENST00000366955.3	+	6	875	c.707C>T	c.(706-708)cCa>cTa	p.P236L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	236	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAGAACTCCAATTAGGAGA	0.438000													82	90					0	0	0.003610	0	0
TRAK1	22906	broad.mit.edu	37	3	42264742	42264742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:42264742C>T	ENST00000327628.5	+	16	2775	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S734F	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	792					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACACCCACATCCTCCCCACCC	0.607000													18	13					0	0	0.007413	0	0
GSDMA	284110	broad.mit.edu	37	17	38122606	38122606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38122606G>A	ENST00000301659.4	+	3	426	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	103					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AAGGTGAAGGGAACGGCAGGG	0.577000													53	62					0	0	0.003610	0	0
SLC22A9	114571	broad.mit.edu	37	11	63175680	63175680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63175680C>T	ENST00000279178.3	+	8	1634	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	462					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GAAGTAATTCCCACCATAATC	0.458000													7	43					0	0	0.004482	0	0
MME	4311	broad.mit.edu	37	3	154886309	154886309	+	Silent	SNP	C	C	T	rs148809350		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:154886309C>T	ENST00000460393.1	+	19	1929	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L	MME_ENST00000492661.1_Silent_p.L603L|MME_ENST00000493237.1_Silent_p.L603L|MME_ENST00000462745.1_Silent_p.L603L|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.L603L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	603					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATGGAGACCTCGTTGACTGGT	0.378000													16	15					0	0	0.004007	0	0
LRRK1	79705	broad.mit.edu	37	15	101593217	101593217	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101593217C>T	ENST00000284395.5	+	26	4171	c.3771C>T	c.(3769-3771)gcC>gcT	p.A1257A	LRRK1_ENST00000388948.3_Silent_p.A1260A|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1260	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTACCGGGCCCGGTACCAGG	0.617000													18	38					0	0	0.001523	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704361	60704361	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60704361G>A	ENST00000005286.4	+	11	3210	c.3057G>A	c.(3055-3057)agG>agA	p.R1019R	TMEM132A_ENST00000453848.2_Silent_p.R1018R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	1018	Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACATGGAGAGGATCCGGGGCA	0.652000													20	8					0	0	0.001523	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306454	2306454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:2306454G>A	ENST00000290974.2	-	8	1952	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S468L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S508L|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	538					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACGGGCTCCGAGGCGGCCTC	0.672000													8	21					0	0	0.003080	0	0
FAM186B	84070	broad.mit.edu	37	12	49994666	49994666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49994666C>T	ENST00000544141.1	-	4	1086	c.487G>A	c.(487-489)Gag>Aag	p.E163K	FAM186B_ENST00000257894.2_Missense_Mutation_p.E253K|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	253						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCTGTTCTCCTTGTGTTGG	0.562000													13	77					0	0	0.002450	0	0
CASR	846	broad.mit.edu	37	3	121973151	121973151	+	Missense_Mutation	SNP	C	C	T	rs121909262		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121973151C>T	ENST00000498619.1	+	2	553	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CASR_ENST00000296154.5_Missense_Mutation_p.P39S|CASR_ENST00000490131.1_Missense_Mutation_p.P39S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	39			P -> A (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGGCTCTTTCCTATTCATTT	0.527000													25	58					0	0	0.006320	0	0
COL21A1	81578	broad.mit.edu	37	6	56044778	56044778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:56044778G>A	ENST00000244728.5	-	3	635	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.Q80*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.Q80*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	80	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACTATATTGAACCACTCCA	0.413000													30	5					0	0	0.002096	0	0
KRT78	196374	broad.mit.edu	37	12	53242410	53242410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53242410G>A	ENST00000304620.4	-	1	368	c.305C>T	c.(304-306)cCc>cTc	p.P102L		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	102	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGAACTGGGGATCGATCTC	0.572000													32	19					0	0	0.002836	0	0
PREX2	80243	broad.mit.edu	37	8	68950441	68950441	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:68950441C>T	ENST00000288368.4	+	7	1030	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	251	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTGTGGAGTCTTACTGAAAA	0.383000													18	24					0	0	0.007413	0	0
COL4A4	1286	broad.mit.edu	37	2	227920826	227920826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:227920826G>A	ENST00000396625.3	-	30	2758	c.2551C>T	c.(2551-2553)Cca>Tca	p.P851S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P851S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	851	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCACCTGGAGCACCTAAG	0.567000													10	20					0	0	0.001368	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186172	5186172	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:5186172C>T	ENST00000274181.7	+	5	909	c.771C>T	c.(769-771)ccC>ccT	p.P257P	ADAMTS16_ENST00000511368.1_Silent_p.P257P	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAGACATGCCCCAGCCTCCCA	0.468000													43	234					0	0	0.003610	0	0
CASD1	64921	broad.mit.edu	37	7	94174937	94174937	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:94174937C>A	ENST00000297273.4	+	12	1844	c.1557C>A	c.(1555-1557)ccC>ccA	p.P519P		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	519						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTTTGTCCCCTTGGTCACTG	0.333000													6	116					0.00116845	0.00187356	0.001168	1	0
ZNF569	148266	broad.mit.edu	37	19	37904471	37904471	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37904471G>A	ENST00000316950.6	-	6	1646	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	ZNF569_ENST00000392149.2_Silent_p.F363F|ZNF569_ENST00000392150.2_Silent_p.F204F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACTGAGAGAAGGCTTTAC	0.383000													21	59					0	0	0.002780	0	0
XIST	7503	broad.mit.edu	37	X	73050944	73050944	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73050944G>A	ENST00000429829.1	-	0	11738					NR_001564.2																						CTTCCTATCTGGGACCAGGAA	0.453000													19	1					0	0	0.001523	0	0
C17orf75	64149	broad.mit.edu	37	17	30658842	30658842	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:30658842G>A	ENST00000577809.1	-	10	1180	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	C17orf75_ENST00000225805.4_Silent_p.A377A|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	377					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACATTTTTGGCTTCAGGCA	0.313000													15	57					0	0	0.004007	0	0
PMP22	5376	broad.mit.edu	37	17	15134136	15134136	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:15134136G>A	ENST00000494511.1	-	3	568	c.402C>T	c.(400-402)tcC>tcT	p.S134S	PMP22_ENST00000312280.3_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000395936.1_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TTTGAGTTTGGGATTTTGGGC	0.443000													7	17					0	0	0.001984	0	0
PRX	57716	broad.mit.edu	37	19	40902667	40902667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40902667G>A	ENST00000324001.7	-	7	1862	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	531	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			TGGCACCTTTGGGAGTTTCAT	0.562000													86	76					0	0	0.003610	0	0
CXCR2	3579	broad.mit.edu	37	2	219000455	219000455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219000455C>T	ENST00000318507.2	+	3	1358	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTGCCTCAACCCCCTCATCTA	0.562000													12	40					0	0	0.000978	0	0
RRP1B	23076	broad.mit.edu	37	21	45107874	45107874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45107874C>T	ENST00000340648.4	+	13	1736	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	540					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CTGTCCACGCCGGCCTGGCCT	0.647000													9	39					0	0	0.006214	0	0
WIPI1	55062	broad.mit.edu	37	17	66431803	66431803	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66431803G>A	ENST00000262139.5	-	6	578	c.579C>T	c.(577-579)acC>acT	p.T193T	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.T111T	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	193					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGGCATTGAAGGTGATGGCAG	0.517000											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	83					0	0	0.007291	0	0
KCTD7	154881	broad.mit.edu	37	7	66104087	66104087	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:66104087C>T	ENST00000275532.3	+	4	922	c.738C>T	c.(736-738)caC>caT	p.H246H	KCTD7_ENST00000443322.1_Silent_p.H246H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACCTGCTGCACTGCCTGGTCA	0.592000													97	48					0	0	0.003610	0	0
NR4A3	8013	broad.mit.edu	37	9	102609826	102609826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:102609826C>T	ENST00000330847.1	+	6	1639	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	NR4A3_ENST00000395097.2_Missense_Mutation_p.S521F			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	521					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGACTTTTCCTTAAATTTG	0.478000			T	EWSR1	extraskeletal myxoid chondrosarcoma								26	35					0	0	0.004656	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76972097	76972097	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76972097A>C	ENST00000262776.3	-	3	502	c.194T>G	c.(193-195)cTg>cGg	p.L65R	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.L65R|LGALS3BP_ENST00000585407.1_Missense_Mutation_p.L65R	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	65	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCGAAGCCCAGGGCCCGGCA	0.647000													15	16					0	0	0.004990	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491674	86491674	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86491674G>A	ENST00000395184.1	+	2	446		c.e2-1		ARHGAP24_ENST00000506421.1_Splice_Site|ARHGAP24_ENST00000503995.1_Splice_Site	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTGCTAACTAGGAAAGTCCAT	0.438000													4	8					0	0	0.000248	0	0
CD163L1	283316	broad.mit.edu	37	12	7531734	7531734	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7531734G>A	ENST00000313599.3	-	9	2268	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	CD163L1_ENST00000416109.2_Silent_p.I747I|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Silent_p.I737I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	737	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAGACCCTGATTGCAGACC	0.483000													8	69					0	0	0.003080	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927893	13927893	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13927893C>T	ENST00000602743.1	-	0	224																											GGAGTGAGAGCCTTTTCTGAC	0.562000													6	17					0	0	0.001855	0	0
OR5M11	219487	broad.mit.edu	37	11	56310114	56310114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56310114G>A	ENST00000528616.2	-	1	643	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GAGGGAGCTGGAGAGGTTGAA	0.498000													8	30					0	0	0.003080	0	0
MYOCD	93649	broad.mit.edu	37	17	12656151	12656151	+	Missense_Mutation	SNP	G	G	A	rs146033223		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:12656151G>A	ENST00000425538.1	+	10	1746	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	MYOCD_ENST00000395988.1_Missense_Mutation_p.E420K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E516K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	516					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTGGACTCCGAGAAGGACAA	0.582000													14	14					0	0	0.002450	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695493	219695493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219695493C>T	ENST00000439262.2	-	3	225	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G69R|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G69R|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	69					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGCTCCCCTTCCTCCACC	0.612000													26	42					0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82582368	82582368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82582368G>A	ENST00000423517.2	-	5	8238	c.7901C>T	c.(7900-7902)tCt>tTt	p.S2634F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2634F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2565					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTCTGAAGAAATTGGAAT	0.453000													137	11					0	0	0.003610	0	0
KCNG4	93107	broad.mit.edu	37	16	84270909	84270909	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84270909G>A	ENST00000568181.1	-	2	303	c.183C>T	c.(181-183)atC>atT	p.I61I	KCNG4_ENST00000308251.4_Silent_p.I61I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	61						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGTTGATCAGGATCTCCTTCT	0.642000													22	18					0	0	0.002299	0	0
COL20A1	57642	broad.mit.edu	37	20	61941816	61941816	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61941816C>T	ENST00000422202.1	+	10	1436	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	COL20A1_ENST00000435874.1_Silent_p.I456I|COL20A1_ENST00000326996.6_Silent_p.I449I|COL20A1_ENST00000358894.6_Silent_p.I449I			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	449	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTTCCCCATCTATGAGGGCG	0.687000													8	10					0	0	0.004482	0	0
ATG2A	23130	broad.mit.edu	37	11	64673043	64673043	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64673043G>A	ENST00000421419.2	-	24	3570	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	ATG2A_ENST00000377264.3_Silent_p.F1152F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1152							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACCTGAGCAGGAAGGTGGAGG	0.622000													7	7					0	0	0.003080	0	0
KCNG1	3755	broad.mit.edu	37	20	49620632	49620632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49620632G>A	ENST00000371571.4	-	3	1771	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	496						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCACTGTCCTGGGACACGCTC	0.597000													20	46					0	0	0.002299	0	0
LRRC20	55222	broad.mit.edu	37	10	72136260	72136260	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72136260G>A	ENST00000355790.4	-	2	507	c.30C>T	c.(28-30)gcC>gcT	p.A10A	LRRC20_ENST00000395010.1_Silent_p.A10A|LRRC20_ENST00000373224.1_Silent_p.A10A|LRRC20_ENST00000395011.1_Silent_p.A10A|LRRC20_ENST00000358141.2_Silent_p.A10A	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	10										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TTGCTACTCTGGCCACGGCCT	0.602000													42	80					0	0	0.003610	0	0
CHAT	1103	broad.mit.edu	37	10	50870760	50870760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50870760G>A	ENST00000395562.2	+	15	2132	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	CHAT_ENST00000351556.3_Missense_Mutation_p.E519K|CHAT_ENST00000455728.2_Missense_Mutation_p.E519K|CHAT_ENST00000339797.1_Missense_Mutation_p.E519K|CHAT_ENST00000395559.2_Missense_Mutation_p.E519K|CHAT_ENST00000337653.2_Missense_Mutation_p.E637K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	637					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CATGTGCAAGGAGCTGCCCGA	0.577000													21	64					0	0	0.002299	0	0
GSAP	54103	broad.mit.edu	37	7	76943801	76943801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:76943801G>A	ENST00000257626.7	-	27	2173	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.H20Y	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TGCAGAGTATGAAAACCTAGG	0.483000													103	9					0	0	0.003610	0	0
TNS4	84951	broad.mit.edu	37	17	38652456	38652456	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38652456G>A	ENST00000254051.6	-	2	380	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	74					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTGGCTTTGGCCTCCACCT	0.642000													14	39					0	0	0.003163	0	0
CEBPE	1053	broad.mit.edu	37	14	23588291	23588291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23588291C>T	ENST00000206513.5	-	1	534	c.10G>A	c.(10-12)Ggg>Agg	p.G4R		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TAGTAGGTCCCGTGGGACATG	0.701000													5	7					0	0	0.000602	0	0
EXOC4	60412	broad.mit.edu	37	7	133041132	133041132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:133041132C>T	ENST00000253861.4	+	6	841	c.812C>T	c.(811-813)cCa>cTa	p.P271L	EXOC4_ENST00000539845.1_Missense_Mutation_p.P170L|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	271					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GAATTGGATCCAGAGGAAAAC	0.403000													13	73					0	0	0.002450	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200090020C>T	ENST00000367362.3	+	7	1561	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_ENST00000544748.1_Missense_Mutation_p.R367C|NR5A2_ENST00000236914.3_Missense_Mutation_p.R393C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000													11	66					0	0	0.000673	0	0
BOK	666	broad.mit.edu	37	2	242509595	242509595	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242509595G>A	ENST00000318407.3	+	4	707	c.405G>A	c.(403-405)gtG>gtA	p.V135V		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	135					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCTGGCCGTGGACTGTGTGA	0.667000													3	6					0	0	0.004672	0	0
RNFT2	84900	broad.mit.edu	37	12	117217001	117217001	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:117217001C>T	ENST00000257575.4	+	7	963	c.728_splice	c.e7-1	p.L244_splice	RNFT2_ENST00000407967.3_Splice_Site_p.L244_splice|RNFT2_ENST00000392549.2_Splice_Site_p.L244_splice|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	244						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCCCCCCAGCCTCATATTCCT	0.517000													94	19					0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137754678	137754678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:137754678G>A	ENST00000314358.5	+	14	3672	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E814K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E190K|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1158					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCTGGAAACGAAACTACCTT	0.478000													78	42					0	0	0.003610	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43804764C>T	ENST00000243924.3	+	2	389	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000													44	68					0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32639059	32639059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:32639059G>A	ENST00000286827.3	-	5	701	c.230C>T	c.(229-231)tCc>tTc	p.S77F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S77F|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	77					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCATCTTGGGAGAAGGGCTC	0.592000													15	22					0	0	0.002450	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376447	98376447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98376447C>T	ENST00000339364.5	-	13	2082	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.D254N|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.D477N	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	655						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGATGCTGTCTCTTAGCCGT	0.413000													24	90					0	0	0.006320	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322376	103322376	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103322376G>A	ENST00000233969.2	+	11	2191	c.2049G>A	c.(2047-2049)agG>agA	p.R683R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	683						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TACAAAAGAGGAGGACTATTT	0.294000													12	33					0	0	0.001855	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719950	70719950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70719950C>T	ENST00000226444.3	-	4	466	c.354G>A	c.(352-354)tgG>tgA	p.W118*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATCCTTTTCCCAAAATGAGG	0.343000													10	24					0	0	0.006214	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:41306689C>T	ENST00000373198.3	-	7	1205	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000													18	93					0	0	0.007413	0	0
TCF4	6925	broad.mit.edu	37	18	52921919	52921919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:52921919C>T	ENST00000354452.3	-	15	1770	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TCF4_ENST00000540999.1_Missense_Mutation_p.E363K|TCF4_ENST00000561831.3_Missense_Mutation_p.E227K|TCF4_ENST00000570177.2_Missense_Mutation_p.E257K|TCF4_ENST00000356073.4_Missense_Mutation_p.E387K|TCF4_ENST00000398339.1_Missense_Mutation_p.E489K|TCF4_ENST00000564403.2_Missense_Mutation_p.E393K|TCF4_ENST00000567880.1_Missense_Mutation_p.E327K|TCF4_ENST00000537578.1_Missense_Mutation_p.E363K|TCF4_ENST00000566279.1_Missense_Mutation_p.E327K|TCF4_ENST00000570287.2_Missense_Mutation_p.E227K|TCF4_ENST00000457482.3_Missense_Mutation_p.E227K|TCF4_ENST00000564999.1_Missense_Mutation_p.E387K|TCF4_ENST00000565018.2_Missense_Mutation_p.E387K|TCF4_ENST00000544241.2_Missense_Mutation_p.E316K|TCF4_ENST00000543082.1_Missense_Mutation_p.E345K|TCF4_ENST00000564228.1_Missense_Mutation_p.E316K|TCF4_ENST00000568740.1_Missense_Mutation_p.E362K|TCF4_ENST00000561992.1_Missense_Mutation_p.E257K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566286.1_Missense_Mutation_p.E384K|TCF4_ENST00000537856.3_Missense_Mutation_p.E257K|TCF4_ENST00000568673.1_Missense_Mutation_p.E363K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	387	Leucine-zipper.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAACGATCTTCAATTCGGCTT	0.408000													6	10					0	0	0.003080	0	0
ZNF320	162967	broad.mit.edu	37	19	53384916	53384916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53384916G>A	ENST00000595635.1	-	8	964	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H155Y	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAGTATGAATTCTCCTA	0.363000													28	89					0	0	0.006320	0	0
CD7	924	broad.mit.edu	37	17	80274552	80274552	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80274552G>A	ENST00000584284.1	-	2	469	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	CD7_ENST00000312648.3_Silent_p.L130L|CD7_ENST00000583376.1_Silent_p.L30L|CD7_ENST00000578509.1_Silent_p.L30L			P09564	CD7_HUMAN	CD7 molecule	130	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCTGTCACCAGGACCAGGGTG	0.657000													47	66					0	0	0.003610	0	0
GAD2	2572	broad.mit.edu	37	10	26513537	26513537	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26513537C>T	ENST00000376261.3	+	6	1184	c.681C>T	c.(679-681)atC>atT	p.I227I	GAD2_ENST00000376248.1_Silent_p.I113I|GAD2_ENST00000259271.3_Silent_p.I227I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	227					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGAGAGAAATCATTGGCTGGC	0.393000													17	37					0	0	0.004007	0	0
TRIM51	84767	broad.mit.edu	37	11	55653307	55653307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55653307G>A	ENST00000449290.2	+	2	495	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	135						intracellular	zinc ion binding										GGCTGCTGAGGAACGCCGGGT	0.478000													20	16					0	0	0.002780	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500708	27500708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27500708G>A	ENST00000296097.3	+	4	618	c.200G>A	c.(199-201)gGg>gAg	p.G67E	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.G51E|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.G67E	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	67	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATCCAGGGAATGCTCAA	0.502000													21	63					0	0	0.001523	0	0
DNAH8	1769	broad.mit.edu	37	6	38875791	38875791	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:38875791G>A	ENST00000359357.3	+	62	9011	c.8757G>A	c.(8755-8757)gtG>gtA	p.V2919V	DNAH8_ENST00000449981.2_Silent_p.V3136V|DNAH8_ENST00000441566.1_Silent_p.V2883V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTCAGTGATGAAGAGGG	0.393000													30	34					0	0	0.002096	0	0
OR13C8	138802	broad.mit.edu	37	9	107331863	107331863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107331863G>A	ENST00000335040.1	+	1	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CATGAGCAAGGGTGCCTATGT	0.547000													14	31					0	0	0.002450	0	0
LAMA1	284217	broad.mit.edu	37	18	6973112	6973112	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6973112G>A	ENST00000389658.3	-	47	6811	c.6718C>T	c.(6718-6720)Ctg>Ttg	p.L2240L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2240	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTACATCCAGAACATTAGCT	0.383000													66	19					0	0	0.003610	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911193	202911193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:202911193C>T	ENST00000340990.5	-	7	1257	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R320Q	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	320					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CTCAGGAATTCGAGCAGCATA	0.498000													26	102					0	0	0.005443	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801111	185801111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185801111C>T	ENST00000302277.6	+	4	1582	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	330						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAATTCAGTCCCATTAGCAGA	0.323000													13	11					0	0	0.001855	0	0
HAAO	23498	broad.mit.edu	37	2	43015689	43015689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43015689G>A	ENST00000294973.6	-	2	194	c.139C>T	c.(139-141)Cac>Tac	p.H47Y		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	47	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TCTTCGATGTGATAGTCCTTC	0.587000													35	25					0	0	0.004878	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180520	18180520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18180520G>A	ENST00000600835.1	-	11	1328	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	IL12RB1_ENST00000593993.1_Missense_Mutation_p.P342L|IL12RB1_ENST00000430026.2_Missense_Mutation_p.P342L			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	342	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGAGCCACTGGTTCTGGAAG	0.587000													29	64					0	0	0.002096	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053128	17053128	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17053128C>G	ENST00000262096.8	+	4	1063	c.368C>G	c.(367-369)tCt>tGt	p.S123C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	123						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGGACCATGTCTGGAGGTAAA	0.418000													10	32					0	0	0.000673	0	0
LRP1B	53353	broad.mit.edu	37	2	141274503	141274503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141274503C>T	ENST00000389484.3	-	50	9075	c.8104G>A	c.(8104-8106)Gat>Aat	p.D2702N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2702	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2702N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTGACCATCGCATATCCAG	0.328000										TSP Lung(27;0.18)			11	30					0	0	0.001368	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561572	127561572	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127561572G>A	ENST00000373580.3	+	4	471	c.471G>A	c.(469-471)aaG>aaA	p.K157K		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	157										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGAGCATCAAGGCCAACCTGA	0.587000													20	21					0	0	0.003954	0	0
CHFR	55743	broad.mit.edu	37	12	133438112	133438112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:133438112G>A	ENST00000266880.7	-	7	791	c.728C>T	c.(727-729)tCg>tTg	p.S243L	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.S243L|CHFR_ENST00000450056.2_Missense_Mutation_p.S231L|CHFR_ENST00000443047.2_Missense_Mutation_p.S151L|CHFR_ENST00000315585.7_Missense_Mutation_p.S202L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	243					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TTCCAACGACGAAAAGGACGC	0.537000													18	30					0	0	0.001523	0	0
USP6NL	9712	broad.mit.edu	37	10	11505008	11505008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:11505008C>T	ENST00000379237.1	-	15	2313	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	USP6NL_ENST00000277575.5_Missense_Mutation_p.G657E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	640						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGAGAGTTTCCGTGGTAAAC	0.552000													5	1					0	0	0.000602	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436274	7436274	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:7436274C>T	ENST00000319098.4	-	1	426	c.333G>A	c.(331-333)gtG>gtA	p.V111V	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	111	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGTGGGCATCCACCATCCACT	0.632000													7	7					0	0	0.003080	0	0
DROSHA	29102	broad.mit.edu	37	5	31526613	31526613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526613G>A	ENST00000511367.2	-	4	671	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	DROSHA_ENST00000442743.1_Missense_Mutation_p.P143S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P143S|DROSHA_ENST00000344624.3_Missense_Mutation_p.P143S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	143	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATCATGAAGGGGAAAGTGCCT	0.587000													5	14					0	0	0.000602	0	0
OR51F1	256892	broad.mit.edu	37	11	4790304	4790304	+	Missense_Mutation	SNP	A	A	T	rs144710348		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4790304A>T	ENST00000380383.1	-	1	864	c.865T>A	c.(865-867)Tac>Aac	p.Y289N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.Y282N			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	282						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAAGCAGGTATACATTAGCC	0.473000													26	8					0	0	0.004656	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365321	7365321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7365321G>A	ENST00000311403.4	-	4	3319	c.2980C>T	c.(2980-2982)Ccc>Tcc	p.P994S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P994S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCTTAGGGGGAATTGGTGGA	0.607000													5	67					0	0	0.001168	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244835	1244835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1244835C>T	ENST00000324642.3	+	11	1732	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	537					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTACATCATCCTCCTGTTCTG	0.612000													11	47					0	0	0.000978	0	0
UNC5D	137970	broad.mit.edu	37	8	35631824	35631824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:35631824G>A	ENST00000287272.2	+	15	2299	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	UNC5D_ENST00000420357.1_Missense_Mutation_p.R762Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R834Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R829Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R824Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R405Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	829					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TAGAGTGAACGAGAAACCATC	0.423000													15	9					0	0	0.004990	0	0
FOXA2	3170	broad.mit.edu	37	20	22562714	22562714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:22562714G>A	ENST00000419308.2	-	2	1350	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	FOXA2_ENST00000319993.4_Missense_Mutation_p.S389F|FOXA2_ENST00000377115.4_Missense_Mutation_p.S383F	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	383	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTCCGAGGACATGAGGTT	0.637000													25	10					0	0	0.002780	0	0
CPZ	8532	broad.mit.edu	37	4	8609090	8609090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:8609090C>T	ENST00000382480.2	+	7	1554	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.P389S|CPZ_ENST00000315782.6_Missense_Mutation_p.P378S	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	389					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGTCCTACCCCTTCGACTT	0.602000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	0.004482	0	0
OR52R1	119695	broad.mit.edu	37	11	4824861	4824861	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4824861G>A	ENST00000380382.1	-	1	986	c.987C>T	c.(985-987)gtC>gtT	p.V329V	OR52R1_ENST00000356069.2_Silent_p.V250V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCCAAGATGACACAGATAT	0.473000													43	16					0	0	0.002852	0	0
ACLY	47	broad.mit.edu	37	17	40042510	40042510	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40042510G>A	ENST00000352035.2	-	18	2057	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	ACLY_ENST00000393896.2_Silent_p.L633L|ACLY_ENST00000353196.1_Silent_p.L633L|ACLY_ENST00000590151.1_Silent_p.L643L|ACLY_ENST00000537919.1_Silent_p.L372L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	643					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGTTGTCCAGCATCCCACCT	0.547000													7	31					0	0	0.001984	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129222	248129222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248129222C>T	ENST00000366480.3	+	1	688	c.589C>T	c.(589-591)Cca>Tca	p.P197S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTGTGAAGTTCCAGCTCTACT	0.428000													13	56					0	0	0.003163	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380203	6380203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:6380203C>T	ENST00000335585.5	-	3	288	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E82K|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E82K|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E72K|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E89K	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	89					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ATCTTCTCCTCTATCTCCAGG	0.582000													21	41					0	0	0.001523	0	0
NLRP6	171389	broad.mit.edu	37	11	284554	284554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:284554G>A	ENST00000534750.1	+	7	2654	c.2449G>A	c.(2449-2451)Gat>Aat	p.D817N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D818N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	818						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCACCCTGGATCTCAGCGG	0.677000													7	15					0	0	0.001984	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345250	2345250	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2345250G>A	ENST00000452401.2	+	0	1353				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCCCCAGGGCTGCTGGT	0.677000													8	20					0	0	0.003080	0	0
CHD2	1106	broad.mit.edu	37	15	93557971	93557971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:93557971C>T	ENST00000394196.4	+	37	5806	c.4738C>T	c.(4738-4740)Cgt>Tgt	p.R1580C	CHD2_ENST00000557381.1_Missense_Mutation_p.R1580C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1580					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAACCATTTCGTCCAGAGGC	0.507000													34	75					0	0	0.005524	0	0
KIF13B	23303	broad.mit.edu	37	8	29025003	29025003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:29025003G>A	ENST00000524189.1	-	11	1083	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	KIF13B_ENST00000521515.1_Nonsense_Mutation_p.R349*	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	349					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGCTTGGCTCGATCTGCATAC	0.537000													27	76					0	0	0.003954	0	0
HRG	3273	broad.mit.edu	37	3	186383882	186383882	+	Missense_Mutation	SNP	C	C	T	rs141595547	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:186383882C>T	ENST00000232003.4	+	1	142	c.62C>T	c.(61-63)cCc>cTc	p.P21L	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	21	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCCGTGAGTCCCACTGACTGC	0.493000													24	44					0	0	0.003330	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524122	73524122	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73524122C>T	ENST00000339534.2	+	1	98	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	7							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGATTTCTTCGCGTGTGGAC	0.627000													5	4					0	0	0.000602	0	0
AASDH	132949	broad.mit.edu	37	4	57204882	57204882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:57204882C>T	ENST00000451613.1	-	12	2733	c.2564G>A	c.(2563-2565)tGg>tAg	p.W855*	AASDH_ENST00000513376.1_Missense_Mutation_p.G895S|AASDH_ENST00000602986.1_Nonsense_Mutation_p.W787*|AASDH_ENST00000205214.6_Missense_Mutation_p.G995S|AASDH_ENST00000434343.2_Missense_Mutation_p.G510S			Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	0					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCATGGGAACCAAAAAATATT	0.378000													17	18					0	0	0.004007	0	0
UGGT2	55757	broad.mit.edu	37	13	96506591	96506591	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:96506591A>G	ENST00000376747.3	-	35	4217	c.4147T>C	c.(4147-4149)Tta>Cta	p.L1383L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1383	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCGTCTTAAAAGATGTGAT	0.368000													25	40					0	0	0.006320	0	0
DIDO1	11083	broad.mit.edu	37	20	61512276	61512276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61512276C>T	ENST00000266070.4	-	16	5357	c.5032G>A	c.(5032-5034)Ggt>Agt	p.G1678S	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1678S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1678					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCCTCTCACCGTCGTGCTGC	0.672000													16	15					0	0	0.003163	0	0
TRPM6	140803	broad.mit.edu	37	9	77370337	77370337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77370337C>T	ENST00000451710.3	-	28	5075	c.4838G>A	c.(4837-4839)gGa>gAa	p.G1613E	TRPM6_ENST00000360774.1_Missense_Mutation_p.G1613E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1608E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1613E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.G564E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1608E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1613					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTGTTTTCTCCTGGCTCTGG	0.418000													18	36					0	0	0.007413	0	0
NOP9	161424	broad.mit.edu	37	14	24774214	24774214	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24774214C>T	ENST00000267425.3	+	10	1917	c.1824C>T	c.(1822-1824)acC>acT	p.T608T	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCTTGACTACCTTCCTAAAGC	0.552000													9	37					0	0	0.004482	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044547	75044547	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75044547C>T	ENST00000343932.4	+	5	1188	c.1125C>T	c.(1123-1125)acC>acT	p.T375T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	375					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCCTGGAGACCTTCCGACACT	0.597000													138	142					0	0	0.003610	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284252	101284252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101284252G>A	ENST00000309922.6	+	2	781	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		TTTTTGACATGGCTTACGAAA	0.393000													36	32					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179597596	179597596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179597596C>T	ENST00000589042.1	-	55	16531	c.16307G>A	c.(16306-16308)gGa>gAa	p.G5436E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5119E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4192E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5119	Ig-like 35.						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)			GTCTTTGCTTCCCACGGAATT	0.428000													8	17					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486721	25486721	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25486721G>A	ENST00000453082.2	+	0	2040					NR_003343.1																						GAGACTGGAGGAAGACTTCCA	0.607000													8	4					0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139616993	139616993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139616993C>T	ENST00000303045.6	-	59	4570	c.4124G>A	c.(4123-4125)gGa>gAa	p.G1375E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1355E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1375	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGGACTCCTTTCTCTCC	0.507000										HNSCC(7;0.00092)			6	16					0	0	0.003080	0	0
HTR3E	285242	broad.mit.edu	37	3	183823756	183823756	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:183823756C>T	ENST00000415389.2	+	7	1390	c.925_splice	c.e7+1	p.I308_splice	HTR3E_ENST00000335304.2_Splice_Site_p.I323_splice|HTR3E_ENST00000440596.2_Splice_Site_p.I334_splice|HTR3E_ENST00000436361.2_Splice_Site_p.I308_splice|HTR3E_ENST00000425359.2_Splice_Site_p.I293_splice	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	308						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCGGTATGGCTC	0.547000													43	111					0	0	0.003610	0	0
SLTM	79811	broad.mit.edu	37	15	59180621	59180621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59180621G>A	ENST00000380516.2	-	17	2425	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	SLTM_ENST00000536328.1_Missense_Mutation_p.P349S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	780	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAACTCTCAGGAAACCTGCCC	0.403000													15	124					0	0	0.006122	0	0
PRKCE	5581	broad.mit.edu	37	2	46411915	46411915	+	Silent	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46411915C>G	ENST00000306156.3	+	15	2436	c.2109C>G	c.(2107-2109)acC>acG	p.T703T		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	703	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AAGACTTTACCCGGGAAGAGC	0.488000													23	56					0	0	0.001882	0	0
FKBP15	23307	broad.mit.edu	37	9	115931882	115931882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115931882C>T	ENST00000238256.3	-	26	3224	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1036					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCTAGAACTCTGTGGGATGG	0.552000													15	23					0	0	0.003163	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180061	74180061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:74180061G>A	ENST00000300504.2	+	9	961	c.878G>A	c.(877-879)gGg>gAg	p.G293E	TBC1D21_ENST00000535547.2_Missense_Mutation_p.G257E|TBC1D21_ENST00000562056.1_Missense_Mutation_p.G256E	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	293						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGCATGGGCGGGGATGACATC	0.647000													25	30					0	0	0.003954	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183700	58183700	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58183700G>A	ENST00000483681.1	-	8	1133	c.552C>T	c.(550-552)ttC>ttT	p.F184F	DNASE1L3_ENST00000486455.1_Silent_p.F154F|DNASE1L3_ENST00000318316.3_Silent_p.F184F|DNASE1L3_ENST00000394549.2_Silent_p.F184F			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	184					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CCATGAAAATGAAATTCTAAA	0.517000													12	24					0	0	0.002450	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995456	140995456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140995456C>T	ENST00000285879.4	+	4	2552	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	756							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGTCTTCCCCAGAGTTT	0.547000										HNSCC(15;0.026)			108	23					0	0	0.003610	0	0
TBC1D8	11138	broad.mit.edu	37	2	101666995	101666995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:101666995G>A	ENST00000409318.1	-	5	870	c.740C>T	c.(739-741)tCc>tTc	p.S247F	TBC1D8_ENST00000376840.4_Missense_Mutation_p.S232F	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	232					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGAACATGGAGAAGTCACG	0.512000													4	18					0	0	0.000248	0	0
DPYD	1806	broad.mit.edu	37	1	98348837	98348837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:98348837G>A	ENST00000370192.3	-	2	233	c.133C>T	c.(133-135)Cct>Tct	p.P45S	DPYD_ENST00000423006.2_Intron|DPYD_ENST00000306031.5_Missense_Mutation_p.P45S	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	45					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTTATCAGGATTTCTTTTC	0.373000													8	11					0	0	0.004482	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48559767C>T	ENST00000258955.2	+	4	875	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	22					0	0	0.002299	0	0
FAM65C	140876	broad.mit.edu	37	20	49218928	49218928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49218928C>T	ENST00000327979.2	-	13	1739	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	FAM65C_ENST00000045083.2_Missense_Mutation_p.R443Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R447Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	443										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGTCCTCCCGAGCCTCCTC	0.662000													21	36					0	0	0.002299	0	0
SACS	26278	broad.mit.edu	37	13	23905533	23905533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23905533G>A	ENST00000382298.3	-	10	13070	c.12482C>T	c.(12481-12483)cCt>cTt	p.P4161L	SACS_ENST00000402364.1_Missense_Mutation_p.P3411L|SACS_ENST00000382292.3_Missense_Mutation_p.P4161L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4161					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)		AATTTCAGCAGGAATTGGTGT	0.413000													33	88					0	0	0.003755	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386145	50386145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50386145C>T	ENST00000221543.5	+	8	1222	c.923C>T	c.(922-924)tCg>tTg	p.S308L	TBC1D17_ENST00000535102.2_Missense_Mutation_p.S275L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	308						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CGGATCTTCTCGGGGGTGAGT	0.672000													14	39					0	0	0.004007	0	0
GAD1	2571	broad.mit.edu	37	2	171704187	171704187	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171704187G>A	ENST00000358196.3	+	11	1554	c.1002_splice	c.e11-1	p.G335_splice		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	335					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTTGTAGGGATATGTTCCC	0.353000													31	66					0	0	0.004878	0	0
DZIP1	22873	broad.mit.edu	37	13	96251628	96251628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:96251628C>T	ENST00000347108.3	-	13	1960	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	DZIP1_ENST00000361396.2_Missense_Mutation_p.E491K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E510K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E491K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	510					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCTTTTTCTTCCTCTGAAAGT	0.373000													17	21					0	0	0.004990	0	0
KDM7A	80853	broad.mit.edu	37	7	139826443	139826443	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:139826443G>A	ENST00000397560.2	-	6	979	c.882C>T	c.(880-882)gtC>gtT	p.V294V	JHDM1D_ENST00000006967.5_Silent_p.V294V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		294	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTACCCAGAGGACATGGTACC	0.373000													15	97					0	0	0.007413	0	0
SAMD12	401474	broad.mit.edu	37	8	119209968	119209968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:119209968G>A	ENST00000409003.4	-	5	595	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	156										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			ACCCTCAGATGATGCTGCAAG	0.428000													70	63					0	0	0.003610	0	0
OR2K2	26248	broad.mit.edu	37	9	114090518	114090518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:114090518G>A	ENST00000374428.1	-	1	282	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	OR2K2_ENST00000302681.1_Missense_Mutation_p.L66F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATGAAAGAGAGATTTCCAAGG	0.413000													18	17					0	0	0.007413	0	0
NOTCH3	4854	broad.mit.edu	37	19	15290951	15290951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15290951G>A	ENST00000263388.2	-	20	3334	c.3259C>T	c.(3259-3261)Ccc>Tcc	p.P1087S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1087	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCAAGCAGGGGTCCACCTCC	0.652000													35	27					0	0	0.005524	0	0
IFIT5	24138	broad.mit.edu	37	10	91177344	91177344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91177344C>T	ENST00000371795.4	+	2	601	c.388C>T	c.(388-390)Cct>Tct	p.P130S	IFIT5_ENST00000416601.1_Missense_Mutation_p.P130S	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	130							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ATTGTCCAGTCCTTCTAACTA	0.428000													17	43					0	0	0.004990	0	0
TECTA	7007	broad.mit.edu	37	11	121058574	121058574	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:121058574C>T	ENST00000392793.1	+	21	6304	c.6033C>T	c.(6031-6033)atC>atT	p.I2011I	TECTA_ENST00000264037.2_Silent_p.I2011I			O75443	TECTA_HUMAN	tectorin alpha	2011	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCATTGGCATCGAGGAGAATG	0.433000													20	15					0	0	0.001523	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287571	29287571	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:29287571G>A	ENST00000266943.6	-	3	675	c.306C>T	c.(304-306)ttC>ttT	p.F102F	SLC46A3_ENST00000380814.4_Silent_p.F102F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	102					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAATCATAGGGAATTTTCGTC	0.403000													8	15					0	0	0.003080	0	0
GCM1	8521	broad.mit.edu	37	6	52993217	52993217	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:52993217C>T	ENST00000259803.7	-	6	1309	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	366						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGTACTTTCTCTTCATAAA	0.488000													28	173					0	0	0.004656	0	0
MMP16	4325	broad.mit.edu	37	8	89180047	89180047	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89180047A>C	ENST00000286614.6	-	4	841	c.560T>G	c.(559-561)aTt>aGt	p.I187S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	187					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGATGCAAAAATAATGGTTAT	0.453000													8	30					0	0	0.006214	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658673	43658673	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43658673A>C	ENST00000396976.2	-	3	991	c.857T>G	c.(856-858)cTc>cGc	p.L286R	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.L285R|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	286					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATATTCCCTGAGCCGCTCAGC	0.547000													19	52					0	0	0.001523	0	0
PDS5B	23047	broad.mit.edu	37	13	33273881	33273881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:33273881C>T	ENST00000315596.10	+	16	1801	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	539					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTACCTGATCCTGGTAAGGC	0.274000													6	13					0	0	0.001168	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565548	24565548	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:24565548G>A	ENST00000376862.3	+	3	1170	c.537G>A	c.(535-537)cgG>cgA	p.R179R	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCCCCCGCGGGACCACCTGG	0.557000													39	94					0	0	0.005524	0	0
GLRB	2743	broad.mit.edu	37	4	158057999	158057999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:158057999C>T	ENST00000264428.4	+	6	841	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	GLRB_ENST00000541722.1_Missense_Mutation_p.P191S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P191S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	191					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACATTGTTTCCCATGGATAC	0.348000													20	21					0	0	0.002299	0	0
NALCN	259232	broad.mit.edu	37	13	101717859	101717859	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:101717859G>A	ENST00000251127.6	-	40	4582	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1501						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCACCTCCAGCCTCCCACGC	0.577000													18	30					0	0	0.006122	0	0
STON1	11037	broad.mit.edu	37	2	48807965	48807965	+	Missense_Mutation	SNP	C	C	T	rs151071170		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:48807965C>T	ENST00000309835.3	+	1	203	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	STON1_ENST00000406226.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P65S|STON1_ENST00000404752.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P65S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCTCCTCCCCCATTGTAGA	0.502000													36	100					0	0	0.005524	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058033	46058033	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:46058033C>T	ENST00000380095.1	+	1	761	c.699C>T	c.(697-699)ccC>ccT	p.P233P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	233						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TCTGCCGCCCCGTGTGCTCCC	0.692000													54	24					0	0	0.003610	0	0
LCP1	3936	broad.mit.edu	37	13	46725188	46725188	+	Silent	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:46725188A>C	ENST00000398576.2	-	11	1153	c.765T>G	c.(763-765)ggT>ggG	p.G255G	LCP1_ENST00000323076.2_Silent_p.G255G			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	255	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCAGGCTCTCACCTTCTCTCA	0.453000			T	BCL6	NHL								14	19					0	0	0.004990	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595183	7595183	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7595183C>T	ENST00000264079.6	+	12	1496	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	457					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCGCTCACTCTCCATGGTGT	0.647000													34	121					0	0	0.004878	0	0
RP1L1	94137	broad.mit.edu	37	8	10468596	10468596	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:10468596C>T	ENST00000382483.3	-	4	3235	c.3012G>A	c.(3010-3012)ggG>ggA	p.G1004G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1004					intracellular signal transduction			p.G1004V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCTGGCTCCCCCAGGCCTT	0.662000													12	9					0	0	0.000978	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783812	140783812	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140783812C>T	ENST00000573521.1	+	1	1293	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACTCCGCCCCTGTCCACAG	0.453000													29	7					0	0	0.001786	0	0
ROS1	6098	broad.mit.edu	37	6	117700232	117700232	+	Missense_Mutation	SNP	G	G	A	rs146533107		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:117700232G>A	ENST00000368508.3	-	17	2785	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R858W	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	863					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)		CTCTGTCCCCGAAGAACAGCT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								24	8					0	0	0.003954	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475461	157475461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:157475461C>T	ENST00000389413.3	-	12	1973	c.1870G>A	c.(1870-1872)Gga>Aga	p.G624R	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G615R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G676R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G636R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G653R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	653						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCCCCTAGTCCCGAGAGCTTC	0.572000													26	195					0	0	0.007291	0	0
KCNT2	343450	broad.mit.edu	37	1	196309666	196309666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196309666C>T	ENST00000367433.5	-	16	1689	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	KCNT2_ENST00000367431.4_Missense_Mutation_p.D480N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.D141N|KCNT2_ENST00000294725.8_Missense_Mutation_p.D530N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	530	RCK N-terminal.					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						TTTTTATTATCCTCCCTCCTA	0.303000													26	14					0	0	0.005443	0	0
LRRC40	55631	broad.mit.edu	37	1	70618143	70618143	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:70618143A>T	ENST00000370952.3	-	12	1491	c.1412T>A	c.(1411-1413)cTt>cAt	p.L471H		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	471										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAATTTCTGAAGCACACATAA	0.289000													8	15					0	0	0.004482	0	0
FLT4	2324	broad.mit.edu	37	5	180048671	180048671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180048671C>T	ENST00000261937.6	-	13	1969	c.1891G>A	c.(1891-1893)Gcg>Acg	p.A631T	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A631T|FLT4_ENST00000502649.1_Missense_Mutation_p.A631T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	631	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGCGCGCCCCAGGTGCC	0.677000													17	12					0	0	0.006122	0	0
ILDR1	286676	broad.mit.edu	37	3	121720279	121720279	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121720279G>A	ENST00000273691.3	-	5	627	c.522C>T	c.(520-522)atC>atT	p.I174I	ILDR1_ENST00000344209.5_Silent_p.I174I|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000462014.1_Silent_p.I186I	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	174						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCCAGGATGATGAAGATCA	0.542000													18	21					0	0	0.007413	0	0
GTF2H1	2965	broad.mit.edu	37	11	18382231	18382231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18382231C>T	ENST00000265963.4	+	14	1697	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	GTF2H1_ENST00000534641.1_Missense_Mutation_p.R397W|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R103W|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R201W|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R513W	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	513					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAAAAGATTCGGAGACAGTA	0.323000								Nucleotide excision repair (NER)					63	16					0	0	0.003610	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599265	136599265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599265G>A	ENST00000531224.1	-	4	1006	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.H250Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H252Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H250Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H252Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H250Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	252					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGCAGAGTGAACTGTACTG	0.438000													13	74					0	0	0.004007	0	0
NAA25	80018	broad.mit.edu	37	12	112509802	112509802	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:112509802C>T	ENST00000261745.4	-	10	1181	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	311						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAGATTCTTCCGTTATCCGAT	0.388000													7	26					0	0	0.001984	0	0
TRPC3	7222	broad.mit.edu	37	4	122854187	122854187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122854187C>T	ENST00000264811.5	-	1	425	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TRPC3_ENST00000379645.3_Missense_Mutation_p.G76R|TRPC3_ENST00000513531.1_Missense_Mutation_p.G3R	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GATGGGCTTCCCTCCATGGAC	0.547000													13	17					0	0	0.001855	0	0
WDR33	55339	broad.mit.edu	37	2	128480907	128480907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128480907C>T	ENST00000322313.4	-	12	1369	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	404					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTCGGTTTCGAGTCCAGAA	0.388000													21	69					0	0	0.001882	0	0
ANKMY1	51281	broad.mit.edu	37	2	241492400	241492400	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:241492400G>A	ENST00000391987.1	-	4	510	c.144C>T	c.(142-144)ttC>ttT	p.F48F	ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000405523.3_Silent_p.F137F|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000401804.1_Silent_p.F137F|ANKMY1_ENST00000536462.1_Silent_p.F90F|ANKMY1_ENST00000272972.3_Silent_p.F48F			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	48							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGTGCCCGTGAAACTGGAGC	0.552000													9	21					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131964149	131964149	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131964149G>A	ENST00000286355.5	-	3	3298	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADCY8_ENST00000377928.3_Silent_p.F402F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	402					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATCCGATGGAACTGGTGCT	0.527000										HNSCC(32;0.087)			17	35					0	0	0.004007	0	0
UMODL1	89766	broad.mit.edu	37	21	43531747	43531747	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43531747G>A	ENST00000400427.1	+	11	2595	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	UMODL1_ENST00000400424.1_Silent_p.E605E|UMODL1_ENST00000408989.2_Silent_p.E805E|UMODL1_ENST00000408910.2_Silent_p.E677E	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	727	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCGAAATGAGGACAGTGGAC	0.612000													10	32					0	0	0.000978	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312871	42312871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42312871C>T	ENST00000357396.3	+	3	686	c.445C>T	c.(445-447)Cct>Tct	p.P149S	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.P149S|CEACAM3_ENST00000221999.4_Missense_Mutation_p.P149S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	149						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGCCTTCCTGTGGGGGC	0.607000													93	55					0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111765	64111765	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64111765G>A	ENST00000356786.5	+	14	1796	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	584					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCTGTGGAGACACAGGAGT	0.642000													19	25					0	0	0.007413	0	0
AGAP11	119385	broad.mit.edu	37	10	88759215	88759215	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88759215C>T	ENST00000444431.1	+	0	345				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGTTGCCAAGCTGTTCTACCT	0.338000													12	33					0	0	0.000978	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364578	62364578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62364578C>T	ENST00000328969.5	+	3	719	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	ZGPAT_ENST00000355969.6_Missense_Mutation_p.H198Y|ZGPAT_ENST00000369967.3_Missense_Mutation_p.H198Y|ZGPAT_ENST00000448100.1_Missense_Mutation_p.H198Y|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.H198Y	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	198					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGGTTCTCCCATGGGCAGGT	0.657000													12	62					0	0	0.001855	0	0
CLU	1191	broad.mit.edu	37	8	27461907	27461907	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:27461907C>G	ENST00000316403.10	-	6	1240	c.835G>C	c.(835-837)Gac>Cac	p.D279H	CLU_ENST00000560366.1_Missense_Mutation_p.D331H|CLU_ENST00000546343.1_Missense_Mutation_p.D290H|CLU_ENST00000523500.1_Missense_Mutation_p.D279H|CLU_ENST00000405140.3_Missense_Mutation_p.D279H			P10909	CLUS_HUMAN	clusterin	279					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGGTCATCGTCGCCTTCTGGG	0.512000													27	18					0	0	0.006320	0	0
POM121L12	285877	broad.mit.edu	37	7	53103958	53103958	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:53103958C>T	ENST00000408890.4	+	1	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	198								p.F198F(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667000													32	80					0	0	0.003755	0	0
FSIP2	401024	broad.mit.edu	37	2	186672480	186672480	+	Silent	SNP	C	C	T	rs138135058	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:186672480C>T	ENST00000343098.5	+	17	18714	c.18714C>T	c.(18712-18714)atC>atT	p.I6238I	FSIP2_ENST00000424728.1_Silent_p.I6149I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.I847I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGAAAACATCGTTGAAAAGA	0.393000													12	22					0	0	0.000978	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083815	42083815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42083815C>T	ENST00000187608.9	+	2	368	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Nonsense_Mutation_p.Q110*|CEACAM21_ENST00000407170.2_5'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	110						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TCTGCATTTCCAGAACGTCAC	0.488000													28	18					0	0	0.006320	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796529	42796529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42796529C>T	ENST00000314073.5	+	6	634	c.458C>T	c.(457-459)tCt>tTt	p.S153F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S153F					GLTSCR1-like																		ACTCAGGCTTCTAATGTTTCT	0.463000													133	20					0	0	0.003610	0	0
NFATC4	4776	broad.mit.edu	37	14	24845681	24845681	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24845681C>T	ENST00000413692.2	+	10	2571	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P	NFATC4_ENST00000553708.1_Silent_p.P746P|NFATC4_ENST00000553469.1_Silent_p.P778P|NFATC4_ENST00000555453.1_Silent_p.P734P|NFATC4_ENST00000555802.1_Silent_p.P34P|NFATC4_ENST00000556279.1_Silent_p.P778P|NFATC4_ENST00000556759.1_Silent_p.P281P|NFATC4_ENST00000422617.3_Silent_p.P734P|NFATC4_ENST00000556169.1_Silent_p.P734P|NFATC4_ENST00000554344.1_Silent_p.P676P|NFATC4_ENST00000557451.1_Silent_p.P676P|NFATC4_ENST00000250373.4_Silent_p.P746P|NFATC4_ENST00000555393.1_Silent_p.P34P|NFATC4_ENST00000555167.1_Silent_p.P281P|NFATC4_ENST00000554050.1_Silent_p.P746P|NFATC4_ENST00000554966.1_Silent_p.P759P|NFATC4_ENST00000539237.2_Silent_p.P778P|NFATC4_ENST00000557767.1_Silent_p.P34P|NFATC4_ENST00000554591.1_Silent_p.P809P|NFATC4_ENST00000554661.1_Silent_p.P676P|NFATC4_ENST00000555590.1_Silent_p.P759P|NFATC4_ENST00000554473.1_Silent_p.P281P|NFATC4_ENST00000424781.2_Silent_p.P759P|NFATC4_ENST00000553879.1_Silent_p.P676P	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	746	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATGGCATGCCCCCTCTGTACC	0.617000													33	36					0	0	0.003271	0	0
CGN	57530	broad.mit.edu	37	1	151498197	151498197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151498197C>T	ENST00000271636.7	+	9	1827	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	559	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAGACTTCAGAGGAGACA	0.552000													36	25					0	0	0.006230	0	0
OVOS2	144203	broad.mit.edu	37	12	31269354	31269354	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:31269354G>A	ENST00000542490.1	-	0	101																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAAGGAAAGAGAAAATCCAGA	0.368000													31	72					0	0	0.003755	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694116	84694116	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:84694116C>T	ENST00000286744.5	+	27	4808	c.4584C>T	c.(4582-4584)gcC>gcT	p.A1528A	ADAMTSL3_ENST00000567476.1_Silent_p.A1528A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1528	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCATGTGCCCCTAAAGACC	0.527000													11	43					0	0	0.001368	0	0
PURG	29942	broad.mit.edu	37	8	30854142	30854142	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:30854142C>T	ENST00000339382.2	-	2	1868	c.936G>A	c.(934-936)caG>caA	p.Q312Q		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TATCATGGGGCTGTTCCTTAT	0.328000													21	60					0	0	0.006320	0	0
ATAD2	29028	broad.mit.edu	37	8	124340747	124340747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124340747G>A	ENST00000287394.5	-	25	3658	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	ATAD2_ENST00000521903.1_Missense_Mutation_p.S502L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGCCTGTGAAATCTTCCT	0.373000													33	58					0	0	0.002836	0	0
ANKRD24	170961	broad.mit.edu	37	19	4210288	4210288	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4210288C>T	ENST00000600132.1	+	13	1254	c.978C>T	c.(976-978)atC>atT	p.I326I	ANKRD24_ENST00000318934.4_Silent_p.I326I|ANKRD24_ENST00000262970.5_Silent_p.I416I|ANKRD24_ENST00000595096.1_3'UTR	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	326										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGAGGAGATCGTGAGGCTGC	0.632000													3	3					0	0	0.000602	0	0
DHRS2	10202	broad.mit.edu	37	14	24114078	24114078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24114078C>T	ENST00000250383.6	+	8	1194	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	DHRS2_ENST00000344777.7_Silent_p.I243I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	218					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CAAGGAACATCATCAGCTGCA	0.512000													15	68					0	0	0.004990	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994883	140994883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140994883C>T	ENST00000285879.4	+	4	1979	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	565							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTACTTTCCTCAGAGCCC	0.572000										HNSCC(15;0.026)			217	52					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126173566	126173566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:126173566C>T	ENST00000339582.2	-	9	2678	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.V624M|GRM8_ENST00000358373.3_Missense_Mutation_p.V624M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	624					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTTAGGAGCACGTAACTAAGT	0.458000										HNSCC(24;0.065)			60	26					0	0	0.003610	0	0
IGSF21	84966	broad.mit.edu	37	1	18554492	18554492	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:18554492C>T	ENST00000251296.1	+	2	554	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	57	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCGGGAGATCGTGTGGTACC	0.587000													20	29					0	0	0.001216	0	0
ZNF532	55205	broad.mit.edu	37	18	56587472	56587472	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:56587472G>A	ENST00000336078.4	+	4	2729	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K	ZNF532_ENST00000589288.1_Silent_p.K651K|ZNF532_ENST00000591083.1_Silent_p.K651K|ZNF532_ENST00000591230.1_Silent_p.K651K|ZNF532_ENST00000591808.1_Silent_p.K651K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	651					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						ATTGTACAAAGAACCTCGTTT	0.493000													12	47					0	0	0.001855	0	0
DROSHA	29102	broad.mit.edu	37	5	31526876	31526876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526876G>A	ENST00000511367.2	-	4	408	c.164C>T	c.(163-165)cCt>cTt	p.P55L	DROSHA_ENST00000442743.1_Missense_Mutation_p.P55L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P55L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P55L|DROSHA_ENST00000504361.1_5'UTR	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	55	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCACTTGGAGGTTCATATTG	0.557000													19	2					0	0	0.001216	0	0
NCAN	1463	broad.mit.edu	37	19	19356151	19356151	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19356151G>A	ENST00000252575.5	+	13	3565	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_ENST00000538881.1_Silent_p.P625P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAACCAGCCGGACAATTTCT	0.572000													4	40					0	0	0.000602	0	0
PAMR1	25891	broad.mit.edu	37	11	35515740	35515740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:35515740C>T	ENST00000378880.2	-	2	599	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PAMR1_ENST00000532848.1_Missense_Mutation_p.E12K|PAMR1_ENST00000378878.3_Missense_Mutation_p.E52K|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.E52K	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	52	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGACGCACTCAATCTGATCA	0.507000													57	7					0	0	0.003610	0	0
OR6C1	390321	broad.mit.edu	37	12	55714535	55714535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55714535C>T	ENST00000379668.2	+	1	190	c.152C>T	c.(151-153)tCc>tTc	p.S51F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGCTGGATTCCCACCTGCAG	0.428000													99	19					0	0	0.003610	0	0
FMO2	2327	broad.mit.edu	37	1	171162577	171162577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:171162577C>T	ENST00000441535.1	+	3	353	c.236C>T	c.(235-237)cCa>cTa	p.P79L	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P79L|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	79					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGATTTTCCAAACTTCCTG	0.353000													20	62					0	0	0.001523	0	0
LGALS8	3964	broad.mit.edu	37	1	236700859	236700859	+	Silent	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236700859T>A	ENST00000526589.1	+	6	628	c.108T>A	c.(106-108)cgT>cgA	p.R36R	LGALS8_ENST00000323938.6_Silent_p.R36R|LGALS8_ENST00000341872.6_Silent_p.R36R|LGALS8_ENST00000416919.2_Silent_p.R36R|LGALS8_ENST00000450372.2_Silent_p.R36R|LGALS8_ENST00000352231.2_Silent_p.R36R|LGALS8_ENST00000527974.1_Silent_p.R36R|LGALS8_ENST00000525042.1_Silent_p.R36R|LGALS8_ENST00000526634.1_Silent_p.R36R|LGALS8_ENST00000366584.4_Silent_p.R36R			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	36	Galectin 1.		R -> C (in dbSNP:rs1041935).			cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGTGATACGTGGGCATGTTC	0.393000													12	55					0	0	0.002450	0	0
GAA	2548	broad.mit.edu	37	17	78086482	78086482	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78086482C>T	ENST00000302262.3	+	13	2079	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	GAA_ENST00000390015.3_Silent_p.S620S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	620					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGTGGAGCTCCTGGGAGCAGC	0.687000													13	11					0	0	0.002450	0	0
ANO1	55107	broad.mit.edu	37	11	70009430	70009430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:70009430C>T	ENST00000355303.5	+	19	2239	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	ANO1_ENST00000398543.2_Missense_Mutation_p.S499F|ANO1_ENST00000316296.5_Missense_Mutation_p.S587F|ANO1_ENST00000538023.1_Missense_Mutation_p.S645F|ANO1_ENST00000531349.1_Missense_Mutation_p.S354F|ANO1_ENST00000530676.1_Missense_Mutation_p.S499F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	645					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATTTTCCGTTCCTTCCGAATG	0.517000													18	31					0	0	0.001882	0	0
DENND1A	57706	broad.mit.edu	37	9	126531808	126531808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126531808G>A	ENST00000373624.2	-	4	368	c.167C>T	c.(166-168)cCc>cTc	p.P56L	DENND1A_ENST00000373618.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.P56L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P24L|DENND1A_ENST00000394215.2_Missense_Mutation_p.P26L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	56	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CACATAGAAGGGGAAACAAAA	0.333000													23	83					0	0	0.001786	0	0
DGKI	9162	broad.mit.edu	37	7	137271913	137271913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:137271913G>A	ENST00000453654.1	-	13	994	c.455C>T	c.(454-456)cCt>cTt	p.P152L	DGKI_ENST00000288490.5_Missense_Mutation_p.P452L|DGKI_ENST00000446122.1_Missense_Mutation_p.P452L|DGKI_ENST00000424189.2_Missense_Mutation_p.P452L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	452					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGGCTGAGGGCTCAGCTG	0.537000													15	95					0	0	0.003163	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99363184	99363184	+	Silent	SNP	C	C	T	rs56262026	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:99363184C>T	ENST00000408927.3	+	15	1853	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	RAP1GDS1_ENST00000408900.3_Silent_p.V531V|RAP1GDS1_ENST00000264572.7_Silent_p.V489V|RAP1GDS1_ENST00000339360.5_Silent_p.V581V|RAP1GDS1_ENST00000453712.2_Silent_p.V580V|RAP1GDS1_ENST00000380158.4_Silent_p.V532V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	580							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTAGATGTCGTATCCAAAC	0.423000			T	NUP98	T-ALL								6	8					0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11584062	11584062	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11584062A>G	ENST00000262442.3	+	19	3667	c.3599A>G	c.(3598-3600)aAc>aGc	p.N1200S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N1200S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1200	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATGGAACAACATAAAAAAG	0.532000													14	25					0	0	0.004990	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													76	165					0	0	0.003610	0	0
TRPM8	79054	broad.mit.edu	37	2	234845985	234845985	+	Silent	SNP	C	C	T	rs143047295	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234845985C>T	ENST00000355722.4	+	3	144	c.30C>T	c.(28-30)atC>atT	p.I10I	TRPM8_ENST00000324695.4_Intron|TRPM8_ENST00000409625.1_Intron|TRPM8_ENST00000433712.2_Intron			Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	0						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCACACCATCGTGCTTATCA	0.438000													18	18					0	0	0.006122	0	0
CDH4	1002	broad.mit.edu	37	20	60504813	60504813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60504813G>A	ENST00000360469.5	+	13	2240	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	CDH4_ENST00000543233.1_Missense_Mutation_p.D644N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	718	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACAACGGGGACTGCACCAC	0.582000													67	56					0	0	0.003610	0	0
PSG6	5675	broad.mit.edu	37	19	43411146	43411146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43411146G>A	ENST00000187910.2	-	5	1233	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	PSG6_ENST00000402603.4_Missense_Mutation_p.L297F|PSG6_ENST00000292125.2_Missense_Mutation_p.L390F	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CAAGCATAGAGCCCGCTATGA	0.448000													138	123					0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82321672	82321672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:82321672C>T	ENST00000376520.4	+	11	1622	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.S265F|TLE4_ENST00000265284.6_Missense_Mutation_p.S240F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.S265F			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GATCCATCTTCCCCTCGAGGG	0.498000													27	53					0	0	0.002096	0	0
APOBEC1	339	broad.mit.edu	37	12	7802203	7802203	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7802203C>T	ENST00000229304.4	-	5	671	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	217					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GTGGCGGAATCGTTTGGTAAT	0.398000													5	42					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82582033C>T	ENST00000423517.2	-	5	8573	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2746N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2677					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGAAAGATCAATACATTTA	0.348000													5	49					0	0	0.000602	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777393	18777393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:18777393G>A	ENST00000380548.4	+	19	3505	c.3166G>A	c.(3166-3168)Gag>Aag	p.E1056K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1056						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCTCGGAGGAGGACCCGGG	0.692000													3	3					0	0	0.000248	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053182	69053182	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69053182G>A	ENST00000295381.3	+	11	2213	c.1794G>A	c.(1792-1794)aaG>aaA	p.K598K	ARHGAP25_ENST00000409202.3_Silent_p.K599K|ARHGAP25_ENST00000409030.3_Silent_p.K591K|ARHGAP25_ENST00000479844.1_Silent_p.K292K|ARHGAP25_ENST00000467265.1_Silent_p.K559K|ARHGAP25_ENST00000409220.1_Silent_p.K592K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	598					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AACTGGAGAAGGAAAAGAAGA	0.473000													22	71					0	0	0.001882	0	0
KRT28	162605	broad.mit.edu	37	17	38953483	38953483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38953483C>T	ENST00000306658.7	-	4	806	c.741G>A	c.(739-741)atG>atA	p.M247I		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	247	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGGCCGCGTTCATCTCCACGT	0.602000													40	52					0	0	0.003610	0	0
NWD1	284434	broad.mit.edu	37	19	16918626	16918626	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16918626C>T	ENST00000524140.2	+	18	4384	c.3966C>T	c.(3964-3966)gtC>gtT	p.V1322V	NWD1_ENST00000552788.1_Silent_p.V1322V|NWD1_ENST00000549814.1_Silent_p.V1280V|NWD1_ENST00000523826.1_Silent_p.V1116V|NWD1_ENST00000379808.3_Silent_p.V1322V|NWD1_ENST00000339803.6_Silent_p.V1187V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1322							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAACATCGTCCTGGTGCTGG	0.607000													21	49					0	0	0.001882	0	0
GABPB2	126626	broad.mit.edu	37	1	151062929	151062929	+	Silent	SNP	C	C	T	rs145271934		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151062929C>T	ENST00000368918.3	+	3	487	c.156C>T	c.(154-156)tcC>tcT	p.S52S	GABPB2_ENST00000368916.1_Silent_p.S52S|GABPB2_ENST00000368917.1_Silent_p.S52S	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	52					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTCATTATTCCACAGCAGAAG	0.507000													45	18					0	0	0.003610	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:25718576C>T	ENST00000520164.1	-	13	1868	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	EBF2_ENST00000535548.1_Missense_Mutation_p.G175E|EBF2_ENST00000408929.3_Missense_Mutation_p.G296E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000													66	78					0	0	0.003610	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479300	55479300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:55479300C>T	ENST00000342972.1	+	1	763	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	165	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CTTCTGGGGGCCCCGAGCACA	0.507000													49	7					0	0	0.003610	0	0
ALS2	57679	broad.mit.edu	37	2	202619390	202619390	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202619390G>A	ENST00000264276.6	-	6	1848	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	492					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGCCTGGGGGAAACTGAAA	0.488000													21	24					0	0	0.002780	0	0
NGFR	4804	broad.mit.edu	37	17	47583706	47583706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:47583706C>T	ENST00000172229.3	+	3	379	c.254C>T	c.(253-255)cCg>cTg	p.P85L	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	85					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		p.P85L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCGTGCAAGCCGTGCACCGAG	0.677000													17	26					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	8995964	8995964	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8995964G>A	ENST00000397910.4	-	62	41480	c.41277C>T	c.(41275-41277)tcC>tcT	p.S13759S	MUC16_ENST00000380951.5_Silent_p.S400S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13761				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGGTGGTGGACACAGAGC	0.532000													16	29					0	0	0.001882	0	0
VCL	7414	broad.mit.edu	37	10	75849867	75849867	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:75849867A>G	ENST00000211998.4	+	10	1357	c.1263A>G	c.(1261-1263)ttA>ttG	p.L421L	VCL_ENST00000372755.3_Silent_p.L421L|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	421	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TAGCAGAATTATGTGATGATC	0.418000													24	56					0	0	0.004656	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174110	63174110	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63174110C>T	ENST00000279178.3	+	7	1464	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	405					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATACATGAACCGTCGAGCAA	0.493000													37	22					0	0	0.003271	0	0
C10orf12	26148	broad.mit.edu	37	10	98742843	98742843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98742843C>T	ENST00000286067.2	+	1	1803	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	566										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGACAGTTTCCACACGGAAAC	0.498000													34	26					0	0	0.002836	0	0
PGK2	5232	broad.mit.edu	37	6	49753821	49753821	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:49753821C>T	ENST00000304801.3	-	1	1232	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	360					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGGCTTTCACAATTTCAT	0.473000													125	71					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9075687	9075687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9075687G>A	ENST00000397910.4	-	3	11962	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3921	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGGGGATGAAGTCGTCCC	0.468000													5	19					0	0	0.001168	0	0
RALGDS	5900	broad.mit.edu	37	9	135985090	135985090	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:135985090G>A	ENST00000393160.3	-	4	695	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000542690.1_Silent_p.A240A|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000372050.3_Silent_p.A169A|RALGDS_ENST00000393157.3_Silent_p.A168A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	169	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCCGTGAGGGCGTCACATc	0.522000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								15	43					0	0	0.004007	0	0
WASF3	10810	broad.mit.edu	37	13	27256995	27256995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:27256995C>T	ENST00000361042.4	+	9	1451	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	WASF3_ENST00000335327.5_Missense_Mutation_p.S412F			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	412	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGTCCCGGGTCTTCTCTTTCG	0.687000													27	41					0	0	0.007291	0	0
NUB1	51667	broad.mit.edu	37	7	151073881	151073881	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:151073881C>T	ENST00000568733.1	+	14	1791	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	NUB1_ENST00000566856.1_Silent_p.S537S|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Silent_p.S561S|NUB1_ENST00000355851.4_Silent_p.S551S			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	551	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGCCACGTCCCCTTCTGACT	0.612000													10	1					0	0	0.000673	0	0
FBN1	2200	broad.mit.edu	37	15	48812962	48812962	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48812962G>T	ENST00000316623.5	-	10	1496	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	347	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGCAGCTGGTTAGAGCAGC	0.532000													13	34					1.15088e-07	1.86016e-07	0.004007	1	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73480030C>T	ENST00000523207.1	+	2	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000													51	58					0	0	0.003610	0	0
SMCR8	140775	broad.mit.edu	37	17	18220690	18220690	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18220690C>T	ENST00000406438.3	+	1	2067	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	529										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGCCCTCATCCCTGATGACT	0.537000													63	49					0	0	0.003610	0	0
PGD	5226	broad.mit.edu	37	1	10479520	10479520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:10479520C>T	ENST00000538557.1	+	12	1461	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	PGD_ENST00000270776.8_Missense_Mutation_p.P419L|PGD_ENST00000541529.1_Missense_Mutation_p.P397L|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	419					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GCTGGCATTCCCATGCCCTGT	0.582000													24	40					0	0	0.002780	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569796	47569796	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47569796G>A	ENST00000253048.5	-	15	3766	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1243							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCCGGGCTGGGGTGGGGCAC	0.701000													10	8					0	0	0.000673	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994597	57994597	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57994597C>T	ENST00000354947.5	+	8	833	c.817C>T	c.(817-819)Cta>Tta	p.L273L	PIP4K2C_ENST00000422156.3_Silent_p.L225L|PIP4K2C_ENST00000550465.1_Silent_p.L255L|PIP4K2C_ENST00000540759.2_Silent_p.L273L			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	273	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTCTCAGTTTCTAGTGCAGCT	0.537000													69	877					0	0	0.003610	0	0
MYPN	84665	broad.mit.edu	37	10	69961688	69961688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:69961688C>T	ENST00000358913.5	+	18	4084	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	MYPN_ENST00000354393.2_Missense_Mutation_p.P924L|MYPN_ENST00000540630.1_Missense_Mutation_p.P1199L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1199	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATAGGCATGCCCCCACCTGTG	0.552000													27	97					0	0	0.004656	0	0
EYA1	2138	broad.mit.edu	37	8	72234092	72234092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72234092G>A	ENST00000340726.3	-	6	934	c.295C>T	c.(295-297)Cct>Tct	p.P99S	EYA1_ENST00000388741.2_Missense_Mutation_p.P65S|EYA1_ENST00000388740.3_Missense_Mutation_p.P66S|EYA1_ENST00000303824.7_Missense_Mutation_p.P98S|EYA1_ENST00000388742.4_Missense_Mutation_p.P99S|EYA1_ENST00000388743.2_Missense_Mutation_p.P98S|EYA1_ENST00000419131.1_Missense_Mutation_p.P99S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	99					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAAGGGGTAGGGAGAATATGT	0.453000													15	41					0	0	0.006122	0	0
OR1J1	347168	broad.mit.edu	37	9	125239572	125239572	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125239572G>A	ENST00000259357.2	-	1	663	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGATGCACAGGAATGGAAGC	0.502000													22	39					0	0	0.006320	0	0
ZNF106	64397	broad.mit.edu	37	15	42742955	42742955	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42742955G>A	ENST00000263805.4	-	2	1772	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		GTTCTCCAGGGGAAAAAAAAT	0.398000													60	112					0	0	0.003610	0	0
MCM7	4176	broad.mit.edu	37	7	99697317	99697317	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:99697317C>T	ENST00000303887.5	-	3	816	c.171G>A	c.(169-171)gaG>gaA	p.E57E	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.E57E	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	57					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGGGGTCATCCTCGGCTACGT	0.557000													47	118					0	0	0.003610	0	0
SMG8	55181	broad.mit.edu	37	17	57288906	57288906	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:57288906C>T	ENST00000543872.2	+	2	1758	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N	SMG8_ENST00000300917.5_Silent_p.N498N|SMG8_ENST00000578922.1_Silent_p.N498N|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	498					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TCTCAGAAAACCGATGCCAAA	0.423000													8	37					0	0	0.003080	0	0
KALRN	8997	broad.mit.edu	37	3	124351444	124351444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:124351444G>A	ENST00000360013.3	+	35	5481	c.5354G>A	c.(5353-5355)gGa>gAa	p.G1785E	KALRN_ENST00000428018.2_Missense_Mutation_p.G88E|KALRN_ENST00000393496.1_Missense_Mutation_p.G158E|KALRN_ENST00000291478.4_Missense_Mutation_p.G88E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1785					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAGGCAGATGGAAACATCAAA	0.552000													30	82					0	0	0.001786	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													14	47					0	0	0.002450	0	0
DPEP2	64174	broad.mit.edu	37	16	68025810	68025810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68025810G>A	ENST00000412757.2	-	6	1258	c.593C>T	c.(592-594)tCc>tTc	p.S198F	DPEP2_ENST00000393847.1_Missense_Mutation_p.S198F|DPEP2_ENST00000572888.1_Missense_Mutation_p.S198F			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	198					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGTAAGATGGAGAGGCTATT	0.572000													23	41					0	0	0.003330	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152614	50152614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:50152614C>T	ENST00000284509.6	-	28	3497	c.3356G>A	c.(3355-3357)cGg>cAg	p.R1119Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1119Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1119					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTGCGGGTCCGAGGCCTTCG	0.498000													24	49					0	0	0.002299	0	0
MEF2BNB-MEF2B	4207	broad.mit.edu	37	19	19261560	19261560	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19261560G>A	ENST00000514819.3	-	3	182	c.36C>T	c.(34-36)tcC>tcT	p.S12S	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_5'UTR|MEF2B_ENST00000409447.2_5'UTR|MEF2B_ENST00000409224.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR|MEF2B_ENST00000162023.5_5'UTR|MEF2B_ENST00000602424.2_5'UTR|MEF2B_ENST00000424583.2_5'UTR																breast(1)|haematopoietic_and_lymphoid_tissue(11)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	17						CAGGCTGAGTGGAATGATCTT	0.577000													12	54					0	0	0.001855	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443650	96443650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96443650G>A	ENST00000285979.6	+	1	273	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G25E	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGAGCTCTGGAAGAGGGAGG	0.483000													35	21					0	0	0.003755	0	0
DNM3	26052	broad.mit.edu	37	1	172002338	172002338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172002338C>T	ENST00000358155.4	+	6	958	c.782C>T	c.(781-783)tCc>tTc	p.S261F	DNM3_ENST00000520906.1_Missense_Mutation_p.S261F|DNM3_ENST00000355305.5_Missense_Mutation_p.S261F|DNM3_ENST00000367733.2_Missense_Mutation_p.S261F|DNM3_ENST00000367731.1_Missense_Mutation_p.S261F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	261					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCCTTTCCCACCCGGCT	0.473000													7	21					0	0	0.001984	0	0
NOXO1	124056	broad.mit.edu	37	16	2029903	2029903	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2029903G>A	ENST00000354249.4	-	6	954	c.583_splice	c.e6-1	p.G195_splice	NOXO1_ENST00000566005.1_Splice_Site_p.G200_splice|NOXO1_ENST00000397280.4_Splice_Site_p.G201_splice|NOXO1_ENST00000356120.4_Splice_Site_p.G196_splice|TBL3_ENST00000568546.1_3'UTR	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	201	SH3 1.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CCAGCCACCAGCCTGTGCGCA	0.687000													6	1					0	0	0.001984	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555120	44555120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:44555120G>A	ENST00000330682.2	-	1	1329	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	365	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCCAGAACGGGTTCAAGAAC	0.607000													21	832					0	0	0.003330	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238260	26238260	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:26238260C>T	ENST00000519902.1	-	0	1688																											TCCTCAGATTCGGAGTCACTG	0.413000													29	28					0	0	0.001512	0	0
PNISR	25957	broad.mit.edu	37	6	99856122	99856122	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:99856122G>A	ENST00000369239.5	-	7	903	c.699C>T	c.(697-699)ccC>ccT	p.P233P	PNISR_ENST00000438806.1_Silent_p.P233P	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	233						nuclear speck		p.P233P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAATCCAAGCGGGAAGAGTCC	0.363000													32	8					0	0	0.004289	0	0
C17orf67	339210	broad.mit.edu	37	17	54892321	54892321	+	Missense_Mutation	SNP	G	G	A	rs143175206	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:54892321G>A	ENST00000397861.2	-	6	1344	c.65C>T	c.(64-66)cCg>cTg	p.P22L	C17orf67_ENST00000397862.2_Missense_Mutation_p.P46L|C17orf67_ENST00000575658.1_Missense_Mutation_p.P46L			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	46						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGTCAAAATCGGGGAGGTCTC	0.522000													64	246					0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756232	94756232	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:94756232C>T	ENST00000554723.1	-	2	1237	c.819G>A	c.(817-819)gtG>gtA	p.V273V	SERPINA10_ENST00000554173.1_Silent_p.V233V|SERPINA10_ENST00000261994.4_Silent_p.V233V|SERPINA10_ENST00000393096.1_Silent_p.V233V			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	233					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGATGTAATCCACAAGAATTA	0.413000													25	10					0	0	0.003330	0	0
FAM151A	338094	broad.mit.edu	37	1	55089042	55089042	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55089042C>T	ENST00000302250.2	-	1	187	c.27G>A	c.(25-27)aaG>aaA	p.K9K	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.K9K	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	9						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGACCTGATTCTTTGATAACT	0.602000													40	68					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141752100	141752100	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:141752100A>T	ENST00000475668.2	+	25	2866	c.2812A>T	c.(2812-2814)Att>Ttt	p.I938F	MGAM_ENST00000549489.2_Missense_Mutation_p.I938F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	938					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGGTTGCCATTATCACAGA	0.358000													21	4					0	0	0.002299	0	0
SDK1	221935	broad.mit.edu	37	7	4008917	4008917	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4008917C>T	ENST00000404826.2	+	11	1714	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	SDK1_ENST00000389531.3_Silent_p.V525V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	525	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGGCTCTGTCCGGATTCCTA	0.507000													116	597					0	0	0.003610	0	0
TMC1	117531	broad.mit.edu	37	9	75387345	75387345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:75387345C>T	ENST00000297784.5	+	13	1298	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TMC1_ENST00000396237.3_Missense_Mutation_p.S253F|TMC1_ENST00000340019.3_Missense_Mutation_p.S253F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	253					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCACAATATTCCGTTCTCTTT	0.383000													39	85					0	0	0.002852	0	0
EXOC1	55763	broad.mit.edu	37	4	56768600	56768600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:56768600C>T	ENST00000381295.2	+	18	2776	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	EXOC1_ENST00000349598.6_Missense_Mutation_p.R795C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R810C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	810					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAAGAACTTCGTAAAGTCAT	0.383000													18	32					0	0	0.001216	0	0
IDE	3416	broad.mit.edu	37	10	94247036	94247036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94247036G>A	ENST00000265986.6	-	13	1629	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	IDE_ENST00000371581.5_5'UTR|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	525					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTTTGTAGGAAGTTTAAAT	0.328000													98	341					0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7571422	7571422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:7571422G>A	ENST00000399429.3	-	3	378	c.238C>T	c.(238-240)Caa>Taa	p.Q80*		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	80	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGAGTCAATTGGAAAATCTTG	0.413000													14	114					0	0	0.004990	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321978	134321978	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134321978C>T	ENST00000357304.4	+	6	859	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PRRC2B_ENST00000405995.1_Silent_p.F268F|PRRC2B_ENST00000458550.1_Silent_p.F268F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	268							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCACAGTTCATGGGAAATG	0.522000													21	18					0	0	0.001523	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379681	45379681	+	Missense_Mutation	SNP	C	C	T	rs151002444		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45379681C>T	ENST00000398063.2	+	2	611	c.119C>T	c.(118-120)cCg>cTg	p.P40L	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000398061.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000327505.2_Missense_Mutation_p.P40L|AGPAT3_ENST00000546158.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000291572.8_Missense_Mutation_p.P40L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	40					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GCGCTCTGGCCGGTCAGCAAG	0.647000													9	42					0	0	0.004482	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265546	22265546	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22265546G>A	ENST00000390430.2	+	0	88																											CTGGCCCCGAGGAGAATTTCC	0.502000													6	6					0	0	0.001984	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680342	18680342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:18680342C>T	ENST00000380548.4	+	11	1508	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S390F|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S373F|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S390F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	390	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCGTGCTCCTCCTCGTGTGGG	0.597000													8	7					0	0	0.000673	0	0
ZNF595	152687	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:60001G>A	ENST00000509152.2	+	3	366	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF595_ENST00000526473.2_Missense_Mutation_p.E61K|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCAAATAAAAGAGCCCTGCAA	0.448000													7	124					0	0	0.003080	0	0
ICAM3	3385	broad.mit.edu	37	19	10446489	10446489	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10446489C>T	ENST00000589261.1	-	3	808	c.276G>A	c.(274-276)gaG>gaA	p.E92E	ICAM3_ENST00000160262.5_Silent_p.E169E			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	169	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCTCCGCTGGCTCCTCCACTG	0.687000													6	10					0	0	0.001984	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577965	2577965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2577965C>T	ENST00000302956.4	+	5	701	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.R203C|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R203C|AMDHD2_ENST00000565570.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	203					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCTGACGGCCCGTGGCATCTG	0.687000													5	9					0	0	0.000602	0	0
PABPC3	5042	broad.mit.edu	37	13	25671363	25671363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:25671363C>T	ENST00000281589.3	+	1	1064	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	343	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTCTCCTCCCCAGAAGAAGC	0.463000													32	50					0	0	0.002096	0	0
USH2A	7399	broad.mit.edu	37	1	215847641	215847641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:215847641G>A	ENST00000366943.2	-	63	13998	c.13612C>T	c.(13612-13614)Cca>Tca	p.P4538S	USH2A_ENST00000307340.3_Missense_Mutation_p.P4538S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4538	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCAATTTTGGAGGTTCCATC	0.498000										HNSCC(13;0.011)			41	61					0	0	0.007835	0	0
MXRA8	54587	broad.mit.edu	37	1	1289286	1289286	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1289286C>T	ENST00000309212.6	-	9	1275	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	MXRA8_ENST00000342753.4_Silent_p.K314K|MXRA8_ENST00000445648.2_Silent_p.K421K	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	415						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-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;0.145)		CCGCCCTCTCCTTCAGGATGT	0.652000													11	9					0	0	0.001855	0	0
C1orf94	84970	broad.mit.edu	37	1	34677895	34677895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34677895C>T	ENST00000488417.1	+	6	1729	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.Q347*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	347							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCCTTTTGTCCAGCCCAATTA	0.552000													8	24					0	0	0.004482	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270486	153270486	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153270486G>A	ENST00000290722.1	-	7	1024	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	324					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCCAGGGGACAGGATGT	0.592000													142	72					0	0	0.003610	0	0
ZNF93	81931	broad.mit.edu	37	19	20045439	20045439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:20045439C>T	ENST00000343769.5	+	4	1703	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAAGATACTTCATACTGGAGA	0.363000													9	42					0	0	0.004482	0	0
ZNF616	90317	broad.mit.edu	37	19	52618571	52618571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52618571G>A	ENST00000600228.1	-	4	2107	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGGAGCCCTGATTAAAGGCT	0.433000													8	25					0	0	0.000978	0	0
CNGA2	1260	broad.mit.edu	37	X	150911103	150911103	+	Missense_Mutation	SNP	G	G	A	rs139084709		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:150911103G>A	ENST00000329903.4	+	5	611	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCATCCGATTGCGCACA	0.512000													52	11					0	0	0.003610	0	0
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:709106C>T	ENST00000549091.1	+	25	3124	c.3032C>T	c.(3031-3033)gCc>gTc	p.A1011V	WDR90_ENST00000293879.4_Missense_Mutation_p.A1011V	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657000													13	54					0	0	0.004990	0	0
ANKRD12	23253	broad.mit.edu	37	18	9208710	9208710	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:9208710C>T	ENST00000383440.2	+	4	548	c.291C>T	c.(289-291)tcC>tcT	p.S97S	ANKRD12_ENST00000400020.3_Silent_p.S97S|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Silent_p.S120S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	120						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAAGAAATCCACACCAGTTA	0.373000													29	8					0	0	0.006320	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446620	107446620	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:107446620T>C	ENST00000409382.3	-	5	1830	c.1220A>G	c.(1219-1221)tAc>tGc	p.Y407C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Y407C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.Y407C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	407					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATGAAGAATGTAAAATGGCTG	0.378000													23	60					0	0	0.001882	0	0
NGEF	25791	broad.mit.edu	37	2	233757668	233757668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233757668G>A	ENST00000264051.3	-	7	1360	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	NGEF_ENST00000539537.1_Missense_Mutation_p.S84F|NGEF_ENST00000373552.4_Missense_Mutation_p.S269F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	361	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GATGTAGACAGAGAAGTGGTC	0.567000													18	31					0	0	0.001523	0	0
CSMD3	114788	broad.mit.edu	37	8	113529299	113529299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113529299G>A	ENST00000297405.5	-	28	4964	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1574W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1470W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1534W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1574	Sushi 8.					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						CAGAAGTACCGATTTTCTACC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	39					0	0	0.002445	0	0
EPPK1	83481	broad.mit.edu	37	8	144940509	144940509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144940509G>A	ENST00000525985.1	-	2	6984	c.6913C>T	c.(6913-6915)Cgc>Tgc	p.R2305C				P58107	EPIPL_HUMAN	epiplakin 1	2305						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACGGCGCGCTCGGCCGAC	0.697000													15	114					0	0	0.004990	0	0
SPRED2	200734	broad.mit.edu	37	2	65540704	65540704	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:65540704G>A	ENST00000356388.4	-	6	1377	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	SPRED2_ENST00000443619.2_Silent_p.P393P	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	396	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AGGCCCGAAGGGGCAGGTAAC	0.597000													11	30					0	0	0.000978	0	0
HOXC6	3223	broad.mit.edu	37	12	54423488	54423488	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:54423488G>A	ENST00000394331.3	+	3	1914	c.204G>A	c.(202-204)cgG>cgA	p.R68R	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Silent_p.R150R	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	150					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTACTCGCGGTACCAGACCC	0.597000													26	11					0	0	0.005443	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308886	140308886	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140308886G>A	ENST00000253807.2	+	1	2409	c.2409G>A	c.(2407-2409)ggG>ggA	p.G803G	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.G803G|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGGAAAGGGGATCACGCTA	0.448000													86	24					0	0	0.003610	0	0
CLVS1	157807	broad.mit.edu	37	8	62371063	62371063	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:62371063G>A	ENST00000519846.1	+	6	1411	c.939G>A	c.(937-939)tcG>tcA	p.S313S	CLVS1_ENST00000325897.4_Silent_p.S313S|CLVS1_ENST00000518592.1_Silent_p.S34S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	313					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACGTCCTCGAATCTGGAGA	0.493000													18	16					0	0	0.001523	0	0
KLK15	55554	broad.mit.edu	37	19	51330320	51330320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51330320C>T	ENST00000326856.4	-	4	421	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	KLK15_ENST00000416184.1_Missense_Mutation_p.E99K|KLK15_ENST00000301421.2_Missense_Mutation_p.E99K|KLK15_ENST00000596931.1_Missense_Mutation_p.E98K|KLK15_ENST00000598239.1_Missense_Mutation_p.E99K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	99	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)		CTGCGCGCTTCGTAGCGCGGG	0.667000													26	58					0	0	0.005443	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687364	5687364	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5687364G>A	ENST00000581521.1	+	8	955	c.480G>A	c.(478-480)ctG>ctA	p.L160L	HSD11B1L_ENST00000411793.2_Silent_p.L26L|HSD11B1L_ENST00000581893.1_Silent_p.L26L|HSD11B1L_ENST00000583928.1_Silent_p.L26L|HSD11B1L_ENST00000581773.1_Silent_p.L160L|HSD11B1L_ENST00000342970.2_Silent_p.L73L|HSD11B1L_ENST00000577917.1_Silent_p.L79L|RPL36_ENST00000577222.1_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000423665.2_Silent_p.L160L|HSD11B1L_ENST00000301382.4_Silent_p.L79L|HSD11B1L_ENST00000339423.2_Silent_p.L160L|RPL36_ENST00000579649.1_Intron			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	160						extracellular region	binding|oxidoreductase activity										AGGGCTCCCTGGTGGTGGTGT	0.697000													9	21					0	0	0.000978	0	0
FCGBP	8857	broad.mit.edu	37	19	40424184	40424184	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40424184G>A	ENST00000221347.6	-	4	2026	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	673	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCATGCCACAGAGTCGGTCGC	0.612000													47	152					0	0	0.003610	0	0
NCOR1	9611	broad.mit.edu	37	17	15968285	15968285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:15968285G>A	ENST00000268712.3	-	34	5257	c.5000C>T	c.(4999-5001)cCa>cTa	p.P1667L	NCOR1_ENST00000395857.3_Missense_Mutation_p.P251L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P1683L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1667	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGTTCCCCCTGGATGAGGCAC	0.423000													12	55					0	0	0.000978	0	0
OR6K6	128371	broad.mit.edu	37	1	158725577	158725577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158725577G>A	ENST00000368144.2	+	1	1068	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACAAGGACATGAAAGAGGCTA	0.453000													28	109					0	0	0.002445	0	0
G2E3	55632	broad.mit.edu	37	14	31084663	31084663	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31084663C>T	ENST00000206595.6	+	14	1936	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	G2E3_ENST00000438909.2_Silent_p.I548I|G2E3_ENST00000553504.1_Silent_p.I624I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	594	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGCAAAAATCCTTAGTGAGC	0.388000													46	61					0	0	0.003610	0	0
MLKL	197259	broad.mit.edu	37	16	74719433	74719433	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:74719433G>A	ENST00000308807.7	-	5	1234	c.771C>T	c.(769-771)ttC>ttT	p.F257F	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	257	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGGGAGATTCGAATTTCTTCA	0.398000													11	27					0	0	0.002450	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277969	10277969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10277969G>A	ENST00000353231.5	-	3	439	c.281C>T	c.(280-282)tCc>tTc	p.S94F	CLEC7A_ENST00000298523.5_Missense_Mutation_p.S94F|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S61F|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S140F|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S140F	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	140					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCCATCCCAGGAATTTAGTGA	0.383000													39	23					0	0	0.002522	0	0
NR6A1	2649	broad.mit.edu	37	9	127298174	127298174	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127298174G>A	ENST00000487099.2	-	7	1219	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	NR6A1_ENST00000373584.3_Silent_p.S350S|NR6A1_ENST00000344523.4_Silent_p.S353S|NR6A1_ENST00000416460.2_Silent_p.S349S	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	354					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GTTCTTCATCGGAGGGCGAGT	0.532000													31	100					0	0	0.003271	0	0
TEP1	7011	broad.mit.edu	37	14	20852304	20852304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20852304G>A	ENST00000262715.5	-	24	3467	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	TEP1_ENST00000556935.1_Missense_Mutation_p.P1035S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1143					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCGGGCAGGACTCGGTGGC	0.642000													30	36					0	0	0.001512	0	0
SREBF1	6720	broad.mit.edu	37	17	17721617	17721617	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:17721617G>A	ENST00000355815.4	-	7	1399	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	SREBF1_ENST00000261646.5_Silent_p.L380L|SREBF1_ENST00000435530.2_Silent_p.L380L|SREBF1_ENST00000395757.1_Silent_p.L126L|SREBF1_ENST00000338854.5_Silent_p.L380L	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	380	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTCCTGCTTGAGTTTCTGGT	0.542000													35	21					0	0	0.001951	0	0
SECISBP2	79048	broad.mit.edu	37	9	91961898	91961898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91961898C>T	ENST00000375807.3	+	11	1608	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	SECISBP2_ENST00000339901.4_Missense_Mutation_p.P440S|SECISBP2_ENST00000534113.2_Missense_Mutation_p.P445S	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	513					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTCCAGCGCCCCACTGATGAA	0.557000													17	24					0	0	0.004990	0	0
HTR5A	3361	broad.mit.edu	37	7	154862937	154862937	+	Missense_Mutation	SNP	G	G	A	rs141719500		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:154862937G>A	ENST00000287907.2	+	1	904	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.P26L|AC093726.4_ENST00000395731.2_Missense_Mutation_p.P26L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	110						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGCAGCTAGGTCGGAGGCT	0.662000													16	42					0	0	0.004007	0	0
OR1D2	4991	broad.mit.edu	37	17	2995520	2995520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:2995520C>T	ENST00000331459.1	-	1	770	c.771G>A	c.(769-771)atG>atA	p.M257I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	257					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAGGTATACCATACAAAGTG	0.488000													14	54					0	0	0.003163	0	0
FOXN1	8456	broad.mit.edu	37	17	26861910	26861910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26861910G>A	ENST00000226247.2	+	7	1350	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	FOXN1_ENST00000579795.1_Missense_Mutation_p.D441N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	441					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCCTGCAGGACCTACTTAT	0.657000													20	12					0	0	0.002299	0	0
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180151443C>T	ENST00000367602.3	+	6	815	c.741C>T	c.(739-741)tcC>tcT	p.S247S	QSOX1_ENST00000367600.5_Silent_p.S247S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	247					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCTGTCTCCCGAGTCCCCG	0.602000													107	57					0	0	0.003610	0	0
OR6K2	81448	broad.mit.edu	37	1	158670177	158670177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158670177C>T	ENST00000359610.2	-	1	309	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAAATGCTCCTCTCACTAAG	0.458000													50	17					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:2820090C>T	ENST00000520002.1	-	62	10084	c.9529G>A	c.(9529-9531)Gaa>Aaa	p.E3177K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E3000K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3000K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3177K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3176K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2999K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3177	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGAAGACTTCGGACTTATAG	0.522000													14	3					0	0	0.004007	0	0
CAND1	55832	broad.mit.edu	37	12	67696296	67696296	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:67696296C>T	ENST00000545606.1	+	8	1631	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	398					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCACGCATACCTTTCTCTTT	0.423000													16	167					0	0	0.004990	0	0
ALPK3	57538	broad.mit.edu	37	15	85407727	85407727	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85407727C>T	ENST00000258888.5	+	12	5327	c.5160C>T	c.(5158-5160)acC>acT	p.T1720T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1720	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CATATGCTACCCTGGAGGAAG	0.542000													24	94					0	0	0.003954	0	0
LRP5	4041	broad.mit.edu	37	11	68154023	68154023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:68154023G>A	ENST00000294304.7	+	6	1361	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	419	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACGACCCCGATGGCATCGC	0.652000													17	42					0	0	0.007413	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032706	4032706	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:4032706A>G	ENST00000337659.6	+	2	1055	c.955A>G	c.(955-957)Act>Gct	p.T319A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T305A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	319	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGGTCTGAAACTGATAAAGA	0.413000													86	43					0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89172638	89172638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:89172638C>T	ENST00000554922.1	-	11	2038	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	EML5_ENST00000352093.5_Missense_Mutation_p.R597K|EML5_ENST00000380664.5_Missense_Mutation_p.R597K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	597						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTCAGTTTTCTTTCAGGAAT	0.393000													30	10					0	0	0.002836	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745589	140745589	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140745589C>T	ENST00000518069.1	+	1	1692	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCCTGTACCCCGCCCTCC	0.617000													39	142					0	0	0.002222	0	0
OPA3	80207	broad.mit.edu	37	19	46032324	46032324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46032324G>A	ENST00000323060.3	-	2	610	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	177					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CTATTTCTCGGACGCCGGCGC	0.662000													19	39					0	0	0.001216	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400018	13400018	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13400018G>A	ENST00000284110.1	-	2	1514	c.717C>T	c.(715-717)atC>atT	p.I239I	HS3ST3A1_ENST00000578576.1_Silent_p.I37I	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	239						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCACCACCACGATGAGCTTGG	0.637000													14	96					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179396977	179396977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179396977C>T	ENST00000589042.1	-	358	104589	c.104365G>A	c.(104365-104367)Gaa>Aaa	p.E34789K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25724K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25916K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33148K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25849K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32221K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33148							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)			AAGTCAAGTTCGCTTTTGTAT	0.438000													11	23					0	0	0.001368	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967459	142967459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:142967459G>A	ENST00000370494.1	+	1	287	c.257G>A	c.(256-258)aGa>aAa	p.R86K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	86							acid-amino acid ligase activity	p.R86I(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGGAAAGAATAAGTTTA	0.403000													44	4					0	0	0.001951	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963876	73963876	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73963876C>T	ENST00000373468.1	-	3	1167	c.516G>A	c.(514-516)agG>agA	p.R172R	KIAA2022_ENST00000055682.5_Silent_p.R172R			Q5QGS0	K2022_HUMAN	KIAA2022	172					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCATAATCCCTATTTAGAT	0.453000													23	2					0	0	0.004656	0	0
MICAL3	57553	broad.mit.edu	37	22	18389393	18389393	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:18389393G>A	ENST00000441493.2	-	2	538	c.186C>T	c.(184-186)gcC>gcT	p.A62A	MICAL3_ENST00000429452.1_Silent_p.A62A|MICAL3_ENST00000383094.3_Silent_p.A62A|MICAL3_ENST00000444520.1_Silent_p.A62A|MICAL3_ENST00000414725.2_Silent_p.A62A|MICAL3_ENST00000207726.7_Silent_p.A62A|MICAL3_ENST00000585038.1_Silent_p.A62A|MICAL3_ENST00000400561.2_Silent_p.A62A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	62						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGAGGGCTTTGGCTTTCCAGT	0.493000													180	18					0	0	0.003610	0	0
BMX	660	broad.mit.edu	37	X	15534347	15534347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:15534347G>A	ENST00000357607.2	+	5	626	c.438G>A	c.(436-438)tgG>tgA	p.W146*	BMX_ENST00000342014.6_Nonsense_Mutation_p.W146*|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Nonsense_Mutation_p.W146*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	146					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GTACCCTCTGGGAAGCATGTA	0.537000													71	14					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:81719572G>A	ENST00000550584.2	-	21	2921	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R443*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R93*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R723*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R777*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R802*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R876*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	802								p.R876*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTCTTCGATCCTTCTCA	0.393000													25	4					0	0	0.004656	0	0
RANBP9	10048	broad.mit.edu	37	6	13632704	13632704	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:13632704G>A	ENST00000011619.3	-	12	1903	c.1845C>T	c.(1843-1845)gcC>gcT	p.A615A	NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A386A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	615	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TTTCTATGGCGGCCTGACTTC	0.413000													96	72					0	0	0.003610	0	0
OR2M3	127062	broad.mit.edu	37	1	248366472	248366472	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248366472T>A	ENST00000456743.1	+	1	141	c.103T>A	c.(103-105)Ttt>Att	p.F35I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTGGCCATCTTTTCAGTGGC	0.542000													64	237					0	0	0.003610	0	0
SYT10	341359	broad.mit.edu	37	12	33592443	33592443	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33592443C>T	ENST00000228567.3	-	1	311	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	5						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTCCGTCCTCCTTGTGGAAAC	0.542000													47	131					0	0	0.003610	0	0
IL17B	27190	broad.mit.edu	37	5	148754100	148754100	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148754100G>A	ENST00000261796.3	-	3	425	c.375C>T	c.(373-375)ggC>ggT	p.G125G	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	125					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCACACAGCCCAGACACA	0.667000													39	17					0	0	0.002222	0	0
TDP1	55775	broad.mit.edu	37	14	90458319	90458319	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:90458319C>A	ENST00000335725.4	+	13	1675	c.1425C>A	c.(1423-1425)tcC>tcA	p.S475S	TDP1_ENST00000357382.3_Silent_p.S236S|TDP1_ENST00000393454.2_Silent_p.S475S|TDP1_ENST00000393452.3_Silent_p.S475S|TDP1_ENST00000555880.1_Silent_p.S475S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	475					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGCTGCATTCCTATTTTCAGT	0.308000								Repair of DNA-protein crosslinks					43	14					6.18754e-15	1.00644e-14	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	33603265	33603265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:33603265G>A	ENST00000389232.4	+	1	89	c.19G>A	c.(19-21)Gga>Aga	p.G7R	RYR3_ENST00000415757.3_Missense_Mutation_p.G7R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	7					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGGGGAGAAGGAGGCGAGGA	0.741000													8	18					0	0	0.006214	0	0
ARID3A	1820	broad.mit.edu	37	19	971923	971923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:971923C>T	ENST00000263620.3	+	9	1967	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	547	Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCTGCTCCCAACAAAGGA	0.662000													24	63					0	0	0.005443	0	0
ARSA	410	broad.mit.edu	37	22	51065039	51065039	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51065039G>A	ENST00000547307.1	-	4	1233	c.828C>T	c.(826-828)gtC>gtT	p.V276V	ARSA_ENST00000547805.1_Silent_p.V276V|ARSA_ENST00000395619.3_Silent_p.V278V|ARSA_ENST00000356098.5_Silent_p.V278V|ARSA_ENST00000216124.5_Silent_p.V278V|ARSA_ENST00000453344.2_Silent_p.V192V|ARSA_ENST00000395621.3_Silent_p.V278V			P15289	ARSA_HUMAN	arylsulfatase A	276						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAGTGAAGATGACCAGCGTCT	0.642000													42	18					0	0	0.006999	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													93	84					0	0	0.003610	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471889	47471889	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47471889C>T	ENST00000266581.4	-	2	1363	c.897G>A	c.(895-897)gaG>gaA	p.E299E	AMIGO2_ENST00000321382.3_Silent_p.E299E|AMIGO2_ENST00000550413.1_Silent_p.E299E|AMIGO2_ENST00000429635.1_Silent_p.E299E	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	299	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CGACCTGAGCCTCATGAATAA	0.498000													95	65					0	0	0.003610	0	0
RAG1	5896	broad.mit.edu	37	11	36594953	36594953	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:36594953C>T	ENST00000299440.5	+	2	211	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	33	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAAGCTGTTCCGGGTGAGAT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				35	14					0	0	0.002836	0	0
PREX1	57580	broad.mit.edu	37	20	47262529	47262529	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47262529G>A	ENST00000396220.1	-	26	3394	c.3372C>T	c.(3370-3372)gcC>gcT	p.A1124A	PREX1_ENST00000371941.3_Silent_p.A1124A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1124					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGGGAGGAGGCCTCCTCAG	0.597000													42	42					0	0	0.002222	0	0
CCDC50	152137	broad.mit.edu	37	3	191075887	191075887	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:191075887C>T	ENST00000392455.3	+	3	811	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CCDC50_ENST00000392456.3_Silent_p.A71A	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	71						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGCGCAGGCCCAGCTCCAGA	0.552000													51	45					0	0	0.003610	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348843	49348843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49348843G>A	ENST00000263265.6	-	15	2152	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P508S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	533						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGACCTAGGGGAGCTCAGT	0.527000													29	23					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179432657	179432657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179432657C>T	ENST00000589042.1	-	326	78426	c.78202G>A	c.(78202-78204)Gaa>Aaa	p.E26068K	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17003K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17195K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24427K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17128K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23500K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24427	Ig-like 126.						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)			ACAATATTTTCAGCATACACT	0.388000													53	82					0	0	0.003610	0	0
SERPINE3	647174	broad.mit.edu	37	13	51935993	51935993	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:51935993C>G	ENST00000524365.1	+	10	1760	c.1135C>G	c.(1135-1137)Cgg>Ggg	p.R379G	SERPINE3_ENST00000400389.4_Missense_Mutation_p.R379G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R379G|RP11-24B19.4_ENST00000602881.1_RNA			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	379					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TAAAGCAGATCGGCCATTCAT	0.358000													8	19					0	0	0.004482	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370118	86370118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:86370118G>A	ENST00000400286.2	-	2	1124	c.526C>T	c.(526-528)Cct>Tct	p.P176S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	176						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGTTTGGAGGAAGACTCTCA	0.373000													19	49					0	0	0.001216	0	0
CDSN	1041	broad.mit.edu	37	6	31084447	31084447	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31084447C>T	ENST00000376288.2	-	2	971	c.945G>A	c.(943-945)aaG>aaA	p.K315K	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	315	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGATTTTACCCTTACTGTAGG	0.552000													40	17					0	0	0.002222	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917321	97917321	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:97917321C>T	ENST00000534948.1	+	0	2099							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTTCAGGTTTCATGAAGACTG	0.413000													35	24					0	0	0.003755	0	0
STIM2	57620	broad.mit.edu	37	4	27019467	27019467	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:27019467C>G	ENST00000382009.3	+	12	2176	c.1909C>G	c.(1909-1911)Cgg>Ggg	p.R637G	STIM2_ENST00000237364.5_Missense_Mutation_p.R629G|STIM2_ENST00000412829.2_Missense_Mutation_p.R629G|STIM2_ENST00000465503.1_Missense_Mutation_p.R550G|STIM2_ENST00000467011.1_Missense_Mutation_p.R542G|STIM2_ENST00000467087.1_Missense_Mutation_p.R542G	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	542					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTCACACCCTCGGCACCCTCA	0.607000													56	73					0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187468	32187468	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32187468G>T	ENST00000375023.3	-	8	1549	c.1411C>A	c.(1411-1413)Cgt>Agt	p.R471S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	471	EGF-like 11; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.R471S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCTCACAACGGGAGCCTGTG	0.622000													8	572					0.000442599	0.000711061	0.006214	1	0
FAM83F	113828	broad.mit.edu	37	22	40417616	40417616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40417616G>A	ENST00000333407.5	+	4	1196	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	368										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGGCGAGTCGGCCTGGCGCCT	0.711000													32	4					0	0	0.003755	0	0
GEMIN6	79833	broad.mit.edu	37	2	39009027	39009027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:39009027C>T	ENST00000281950.2	+	3	613	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	166					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				CTTACAGCTTCCCAATGAGAG	0.383000													20	59					0	0	0.001523	0	0
OR1J2	26740	broad.mit.edu	37	9	125273186	125273186	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125273186C>T	ENST00000335302.5	+	1	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGGCATGTACCTGACCACGGT	0.597000													31	106					0	0	0.002096	0	0
MYO1A	4640	broad.mit.edu	37	12	57423650	57423650	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57423650G>A	ENST00000442789.2	-	26	2885	c.2598C>T	c.(2596-2598)ccC>ccT	p.P866P	MYO1A_ENST00000544473.1_Silent_p.P704P|MYO1A_ENST00000300119.3_Silent_p.P866P	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	866					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAATGGAATGGGGACACTGA	0.622000													15	161					0	0	0.004007	0	0
HRC	3270	broad.mit.edu	37	19	49657807	49657807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49657807C>T	ENST00000252825.4	-	1	874	c.688G>A	c.(688-690)Gga>Aga	p.G230R	HRC_ENST00000595625.1_Missense_Mutation_p.G230R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	230	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGATGGTGTCCATCTGAGACA	0.537000													8	17					0	0	0.003080	0	0
DUT	1854	broad.mit.edu	37	15	48633604	48633604	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48633604G>C	ENST00000559540.1	+	4	453	c.411G>C	c.(409-411)caG>caC	p.Q137H	DUT_ENST00000455976.2_Intron|DUT_ENST00000558813.1_Intron|DUT_ENST00000559935.1_Intron|DUT_ENST00000331200.3_Intron|DUT_ENST00000559416.1_Intron			P33316	DUT_HUMAN	deoxyuridine triphosphatase	0					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TGAATTTTCAGAGTCATGTAT	0.284000								Modulation of nucleotide pools					10	13					0	0	0.000673	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078526	107078526	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:107078526C>T	ENST00000390628.2	-	0	258																											TCCATCCTATCCACTCAAGGC	0.527000													44	13					0	0	0.002852	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693259	69693259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:69693259G>A	ENST00000265403.7	+	5	1327	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D350N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	434					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D434Y(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGTAATTAATGATCCTTCGTG	0.383000													24	49					0	0	0.001786	0	0
PCLO	27445	broad.mit.edu	37	7	82545000	82545000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82545000G>A	ENST00000423517.2	-	7	12639	c.12302C>T	c.(12301-12303)tCc>tTc	p.S4101F	PCLO_ENST00000437081.1_Missense_Mutation_p.S821F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4101F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4032					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATCTAGAGGAAGACTGTAA	0.438000													9	27					0	0	0.006214	0	0
BMP6	654	broad.mit.edu	37	6	7727831	7727831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7727831G>A	ENST00000283147.6	+	1	802	c.643G>A	c.(643-645)Gtc>Atc	p.V215I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	215					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCGGACATGGTCATGAGCTT	0.622000													8	27					0	0	0.000673	0	0
A2ML1	144568	broad.mit.edu	37	12	9008104	9008104	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:9008104G>A	ENST00000299698.7	+	23	2944		c.e23-1		A2ML1_ENST00000539547.1_Splice_Site	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCATCTCACAGGAAAGGTGGC	0.443000													12	55					0	0	0.002450	0	0
ZNF121	7675	broad.mit.edu	37	19	9677277	9677277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9677277G>A	ENST00000586602.1	-	6	928	c.512C>T	c.(511-513)cCc>cTc	p.P171L	ZNF121_ENST00000320451.6_Missense_Mutation_p.P171L			P58317	ZN121_HUMAN	zinc finger protein 121	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						ACATTCATAGGGTTTCTCCCC	0.363000													35	18					0	0	0.004289	0	0
TAOK2	9344	broad.mit.edu	37	16	29999291	29999291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29999291C>T	ENST00000308893.4	+	16	4741	c.3698C>T	c.(3697-3699)cCc>cTc	p.P1233L	TAOK2_ENST00000416441.2_Missense_Mutation_p.P1060L|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1120L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1233					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCCTGCCCCCCTGGAGGTAG	0.652000													7	6					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152631048	152631048	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152631048G>A	ENST00000367255.5	-	90	17725	c.17124C>T	c.(17122-17124)ctC>ctT	p.L5708L	SYNE1_ENST00000341594.5_Silent_p.L5320L|SYNE1_ENST00000356820.4_Silent_p.L232L|SYNE1_ENST00000265368.4_Silent_p.L5708L|SYNE1_ENST00000448038.1_Silent_p.L5637L|SYNE1_ENST00000423061.1_Silent_p.L5637L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5708					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCATGACAGAGAGGTAAGC	0.607000										HNSCC(10;0.0054)			27	10					0	0	0.006320	0	0
A2ML1	144568	broad.mit.edu	37	12	8988120	8988120	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8988120G>A	ENST00000299698.7	+	6	681	c.501G>A	c.(499-501)agG>agA	p.R167R		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	11						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATAGCAACAGGATTGCACAGT	0.512000													6	52					0	0	0.001984	0	0
HK1	3098	broad.mit.edu	37	10	71119753	71119753	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:71119753C>T	ENST00000448642.2	+	8	821	c.432C>T	c.(430-432)tcC>tcT	p.S144S	HK1_ENST00000298649.3_Silent_p.S108S|HK1_ENST00000359426.6_Silent_p.S109S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.S113S|HK1_ENST00000360289.2_Silent_p.S97S			P19367	HXK1_HUMAN	hexokinase 1	109	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACATGGAGTCCGAGGTTTATG	0.547000													15	31					0	0	0.004007	0	0
PGAP1	80055	broad.mit.edu	37	2	197777618	197777618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197777618G>A	ENST00000354764.3	-	4	751	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	PGAP1_ENST00000409188.1_Missense_Mutation_p.R171C|PGAP1_ENST00000409475.1_Missense_Mutation_p.R213C|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	213					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTAATGAAACGATCTAATGGC	0.368000													11	19					0	0	0.001368	0	0
MYH8	4626	broad.mit.edu	37	17	10304883	10304883	+	Missense_Mutation	SNP	C	C	T	rs1140933		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10304883C>T	ENST00000403437.2	-	23	3002	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	970				E -> Q (in Ref. 1 and 4).	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCATGTTTCTCCTTCTCAACC	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				121	83					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:123274229C>T	ENST00000264501.4	+	81	14393	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C			Q2LD37	K1109_HUMAN	KIAA1109	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000													20	26					0	0	0.001523	0	0
TENM2	57451	broad.mit.edu	37	5	167553802	167553802	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167553802G>A	ENST00000519204.1	+	11	2008	c.1890G>A	c.(1888-1890)ggG>ggA	p.G630G	TENM2_ENST00000518659.1_Silent_p.G751G|TENM2_ENST00000520394.1_Silent_p.G519G|TENM2_ENST00000403607.2_Silent_p.G584G|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Silent_p.G751G					teneurin transmembrane protein 2																		TCTGCATCGGGGGAGCCTGCC	0.572000													6	14					0	0	0.004482	0	0
C6orf25	80739	broad.mit.edu	37	6	31691594	31691594	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31691594C>T	ENST00000375809.3	+	2	251	c.240C>T	c.(238-240)ttC>ttT	p.F80F	C6orf25_ENST00000375805.2_Silent_p.F80F|C6orf25_ENST00000375810.4_Silent_p.F80F|C6orf25_ENST00000480039.1_Silent_p.F80F	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	80						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCCAGCCTTTCGTCGGCCGCC	0.687000													160	318					0	0	0.003610	0	0
VWF	7450	broad.mit.edu	37	12	6101035	6101035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6101035G>A	ENST00000261405.5	-	38	7002	c.6748C>T	c.(6748-6750)Cct>Tct	p.P2250S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2250	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTCTTCAGGGACACAGCTG	0.592000													23	12					0	0	0.003330	0	0
ULK2	9706	broad.mit.edu	37	17	19699438	19699438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:19699438G>A	ENST00000395544.4	-	19	2466	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	ULK2_ENST00000361658.2_Missense_Mutation_p.A656V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	656					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTGCTCGGCCCGCTGCCT	0.458000													15	58					0	0	0.007413	0	0
WDR90	197335	broad.mit.edu	37	16	709107	709107	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:709107C>T	ENST00000549091.1	+	25	3125	c.3033C>T	c.(3031-3033)gcC>gcT	p.A1011A	WDR90_ENST00000293879.4_Silent_p.A1011A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCCCGGGGCCCCCCCAGCCT	0.662000													12	53					0	0	0.004007	0	0
BMP15	9210	broad.mit.edu	37	X	50659191	50659191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50659191G>A	ENST00000252677.3	+	2	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	255					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGCATGGAGGAGTTCATGGA	0.463000													26	5					0	0	0.003330	0	0
FAT3	120114	broad.mit.edu	37	11	92087720	92087720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:92087720G>A	ENST00000298047.6	+	1	2459	c.2442G>A	c.(2440-2442)tgG>tgA	p.W814*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W814*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W664*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W814*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	814	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCGTCATGGAGACTGCTGA	0.413000										TCGA Ovarian(4;0.039)			303	251					0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137582856	137582856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:137582856G>A	ENST00000371817.3	+	2	622	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	70	TSP N-terminal.				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)		ATCTTCCAAAGGCCCGGATGT	0.552000													12	40					0	0	0.000978	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976345	7976345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7976345C>T	ENST00000545011.1	+	9	1152	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAP2K7_ENST00000397979.3_Missense_Mutation_p.P321S|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P337S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P328S			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	321	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGGACAGTTTCCCTACAAGAA	0.602000													23	11					0	0	0.006320	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590025	140590025	+	Missense_Mutation	SNP	C	C	T	rs141554375		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140590025C>T	ENST00000239450.2	+	1	1735	c.1546C>T	c.(1546-1548)Ctc>Ttc	p.L516F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L179F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		516	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTTGCCCTCAGGTCGCT	0.687000													68	81					0	0	0.003610	0	0
TMEM8A	58986	broad.mit.edu	37	16	426736	426736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:426736G>A	ENST00000431232.2	-	5	872	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P45S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	238					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGACGCACGGGGCAGCCCAGG	0.687000													10	18					0	0	0.006214	0	0
PREX2	80243	broad.mit.edu	37	8	68984784	68984784	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:68984784G>A	ENST00000288368.4	+	14	1825	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	516	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L516L(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCAACAAACTGATAGACTGGT	0.323000													34	33					0	0	0.006999	0	0
RRAD	6236	broad.mit.edu	37	16	66957429	66957429	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66957429G>A	ENST00000299759.6	-	4	889	c.639C>T	c.(637-639)gtC>gtT	p.V213V	RRAD_ENST00000420652.1_Silent_p.V213V			P55042	RAD_HUMAN	Ras-related associated with diabetes	213					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CATCCACCGAGACCTCACGAG	0.632000													16	44					0	0	0.004007	0	0
TDRKH	11022	broad.mit.edu	37	1	151749052	151749052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151749052G>A	ENST00000368822.1	-	7	1540	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	TDRKH_ENST00000368823.1_Missense_Mutation_p.H299Y|TDRKH_ENST00000458431.2_Missense_Mutation_p.H303Y|TDRKH_ENST00000440583.2_Missense_Mutation_p.H79Y|TDRKH_ENST00000368825.3_Missense_Mutation_p.H258Y|TDRKH_ENST00000368827.6_Missense_Mutation_p.H303Y|TDRKH_ENST00000368824.3_Missense_Mutation_p.H303Y			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	303							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCATCAGCATGAAAACTGAAG	0.498000													43	28					0	0	0.003214	0	0
EFHB	151651	broad.mit.edu	37	3	19959780	19959780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:19959780C>T	ENST00000295824.9	-	4	1282	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	EFHB_ENST00000344838.4_Missense_Mutation_p.G244E|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	374					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTTGGTAATCCTGGTGCTTG	0.373000													214	201					0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125315494	125315494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125315494G>A	ENST00000373688.2	+	1	104	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACAAGGGATGGGAAAACCAGG	0.448000													25	51					0	0	0.005443	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673881	120673881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:120673881G>A	ENST00000273666.6	+	3	555	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R95Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGCTATACGAATGTATCCT	0.358000													14	37					0	0	0.001855	0	0
NOVA1	4857	broad.mit.edu	37	14	26917328	26917328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:26917328C>T	ENST00000539517.2	-	5	1678	c.1361G>A	c.(1360-1362)aGg>aAg	p.R454K	NOVA1_ENST00000465357.2_Missense_Mutation_p.R430K|NOVA1_ENST00000267422.7_Missense_Mutation_p.R332K	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	457	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCTGTATCCTTGCACCAGT	0.433000													25	14					0	0	0.003330	0	0
TRPM2	7226	broad.mit.edu	37	21	45811262	45811262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45811262G>A	ENST00000397928.1	+	11	1993	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.W516*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.W516*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	516						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTCACCTGGGACACCTTGC	0.587000													19	111					0	0	0.007413	0	0
SPG7	6687	broad.mit.edu	37	16	89619491	89619491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89619491G>A	ENST00000268704.2	+	14	1899	c.1884G>A	c.(1882-1884)atG>atA	p.M628I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	628					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGATGTGCATGGCCCTGGGAG	0.622000													10	13					0	0	0.000978	0	0
COL9A3	1299	broad.mit.edu	37	20	61461890	61461890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61461890G>A	ENST00000343916.3	+	24	1240	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	413	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCATGGGAGACCCCGGCCT	0.697000													12	17					0	0	0.004990	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599185	70599185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70599185C>T	ENST00000310613.2	-	6	840	c.543G>A	c.(541-543)tgG>tgA	p.W181*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTTTTTCTTCCACCAGTTTT	0.323000													32	63					0	0	0.002096	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032432	4032432	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:4032432C>T	ENST00000337659.6	+	2	781	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PRPF4B_ENST00000538861.1_Silent_p.S213S	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	227	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGCCCATCCAAAAGAAGTA	0.388000													193	78					0	0	0.003610	0	0
MARK1	4139	broad.mit.edu	37	1	220826519	220826519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:220826519C>T	ENST00000402574.1	+	16	2410	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	MARK1_ENST00000366918.4_Missense_Mutation_p.P583S|MARK1_ENST00000366917.4_Missense_Mutation_p.P605S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	605					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GACCCGTTTTCCCCGAGGGAG	0.537000													19	80					0	0	0.007413	0	0
ASXL2	55252	broad.mit.edu	37	2	25965968	25965968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25965968G>A	ENST00000435504.4	-	13	3531	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.L1052F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACTGAGAGAAGATTCTGC	0.507000													26	67					0	0	0.004656	0	0
RPL15	6138	broad.mit.edu	37	3	23960057	23960057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:23960057C>T	ENST00000307839.5	+	3	938	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RPL15_ENST00000415719.1_Missense_Mutation_p.S100F|RPL15_ENST00000456530.2_Missense_Mutation_p.S100F|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000354811.5_Missense_Mutation_p.S100F|RPL15_ENST00000413699.1_Missense_Mutation_p.S100F|RPL15_ENST00000435882.1_Missense_Mutation_p.S100F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AGCCTTCAGTCCGTTGCAGAG	0.483000													51	49					0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117242073	117242073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:117242073C>T	ENST00000278935.3	+	9	1190	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	348					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.P348Q(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAAGCACCAGAGGACACA	0.537000													36	14					0	0	0.003271	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519652	113519652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:113519652C>T	ENST00000284601.3	-	4	1563	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	499					glycogen metabolic process	integral to membrane		p.E499Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTGTTGATTCTTTGAGACAT	0.318000													12	41					0	0	0.000978	0	0
MRPS27	23107	broad.mit.edu	37	5	71519533	71519533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71519533G>A	ENST00000261413.5	-	10	1021	c.982C>T	c.(982-984)Cct>Tct	p.P328S	MRPS27_ENST00000513900.1_Missense_Mutation_p.P342S|MRPS27_ENST00000457646.4_Missense_Mutation_p.P272S	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	328						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AGGTATTGAGGAAGCTTGGAC	0.468000													55	67					0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52183790	52183790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52183790C>T	ENST00000282588.6	+	8	1375	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	306	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAACGGTTTTCCATAGCTGTA	0.393000													6	49					0	0	0.001984	0	0
SPINK5	11005	broad.mit.edu	37	5	147505148	147505148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:147505148C>T	ENST00000359874.3	+	29	2874	c.2801C>T	c.(2800-2802)tCc>tTc	p.S934F	SPINK5_ENST00000256084.7_Intron	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	914	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGCGTTCCTTGGCCTCT	0.448000													11	40					0	0	0.000673	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034428	82034428	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:82034428G>A	ENST00000328945.5	-	2	163	c.36C>T	c.(34-36)ctC>ctT	p.L12L	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	12					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTCCTGTAATGAGGACACTTT	0.378000													7	42					0	0	0.004482	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717156	142717156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:142717156G>A	ENST00000381779.4	-	2	1994	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P590L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P590L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	590						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGTGAATGGTGCAGACGG	0.448000													28	43					0	0	0.007291	0	0
JAK3	3718	broad.mit.edu	37	19	17940955	17940955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17940955C>T	ENST00000458235.1	-	23	3268	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S	JAK3_ENST00000527670.1_Missense_Mutation_p.G1057S|JAK3_ENST00000534444.1_Missense_Mutation_p.G1057S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1057	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCCTCTGGCCCTCCTCCAGC	0.667000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	2					0	0	0.000978	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367392	105367392	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105367392G>A	ENST00000297581.2	+	3	1366	c.1317G>A	c.(1315-1317)cgG>cgA	p.R439R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	439					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCAAAAGACGGCTGAGTCTCT	0.478000													28	24					0	0	0.001512	0	0
MYH7	4625	broad.mit.edu	37	14	23884991	23884991	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23884991C>T	ENST00000355349.3	-	35	5166	c.5004G>A	c.(5002-5004)aaG>aaA	p.K1668K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1668					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATGTTCTCCTTCAGGTCGT	0.627000													24	26					0	0	0.003330	0	0
AUTS2	26053	broad.mit.edu	37	7	70231110	70231110	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:70231110C>T	ENST00000342771.4	+	9	1800	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	AUTS2_ENST00000406775.2_Silent_p.I493I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	493										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCAAGACATCTTGCGACAGG	0.582000													29	61					0	0	0.002096	0	0
OR5W2	390148	broad.mit.edu	37	11	55681306	55681306	+	Silent	SNP	G	G	A	rs142170371		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55681306G>A	ENST00000344514.1	-	1	752	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGTTCCCTGGAAAATTGCAA	0.423000													33	40					0	0	0.006999	0	0
PLB1	151056	broad.mit.edu	37	2	28828728	28828728	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:28828728C>T	ENST00000422425.2	+	41	2981	c.2937C>T	c.(2935-2937)ctC>ctT	p.L979L	PLB1_ENST00000327757.5_Silent_p.L990L|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	990	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGATGGGCTCCCAGATACGT	0.532000													54	146					0	0	0.003610	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903659	38903659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38903659G>A	ENST00000454404.2	-	12	1558	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R414*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R483*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R386*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R469*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R294*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R391*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	483					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATTGTTCCTCGGCCTTCAGGG	0.542000													20	63					0	0	0.001216	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873624	48873624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:48873624G>A	ENST00000394754.1	+	8	2647	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V845M|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V845M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V798M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V107M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V141M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V845M	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		798					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)			ACCAATTATGGTGACAGAGAC	0.358000													13	41					0	0	0.004007	0	0
TRANK1	9881	broad.mit.edu	37	3	36875372	36875372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36875372G>A	ENST00000301807.6	-	21	5817	c.3920C>T	c.(3919-3921)tCc>tTc	p.S1307F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S1307F|TRANK1_ENST00000429976.2_Missense_Mutation_p.S1857F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1857					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAGAGCTTGGAAATGGGAAG	0.413000													19	48					0	0	0.007413	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495974	45495974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:45495974C>T	ENST00000541297.2	+	14	2252	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	CLPTM1_ENST00000337392.5_Missense_Mutation_p.P610L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.P508L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	610					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCTGCCGCCCCCGTGGCCGAG	0.657000													89	237					0	0	0.003610	0	0
BEST3	144453	broad.mit.edu	37	12	70065290	70065290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70065290C>T	ENST00000330891.5	-	9	1244	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	BEST3_ENST00000553096.1_Missense_Mutation_p.D234N|BEST3_ENST00000488961.1_Missense_Mutation_p.D127N|BEST3_ENST00000476098.1_Missense_Mutation_p.D127N|BEST3_ENST00000331471.4_Missense_Mutation_p.D340N	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	340						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGCAGAATCGTCCCAGTAA	0.428000													21	190					0	0	0.001523	0	0
CALCR	799	broad.mit.edu	37	7	93090138	93090138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:93090138C>T	ENST00000359558.2	-	10	1044	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CALCR_ENST00000421592.1_Missense_Mutation_p.D231N|CALCR_ENST00000360249.4_Missense_Mutation_p.D231N|CALCR_ENST00000426151.1_Missense_Mutation_p.D215N|CALCR_ENST00000394441.1_Missense_Mutation_p.D215N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	231					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTACCGGGTCCCTTCGCACG	0.383000													101	8					0	0	0.003610	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58345576	58345576	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58345576C>T	ENST00000300145.3	+	4	476	c.351C>T	c.(349-351)gcC>gcT	p.A117A	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	117					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						ATAATCAGGCCCATATGAACA	0.418000													30	499					0	0	0.002445	0	0
MACROD2	140733	broad.mit.edu	37	20	16030510	16030510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:16030510G>A	ENST00000217246.4	+	17	1662	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	MACROD2_ENST00000310348.4_Missense_Mutation_p.G446R|MACROD2_ENST00000402914.1_Missense_Mutation_p.G211R|MACROD2_ENST00000378058.3_Missense_Mutation_p.G211R|MACROD2_ENST00000407045.3_Missense_Mutation_p.G96R	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	446										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAAAGAAATGGAACTAAATG	0.512000													7	27					0	0	0.006214	0	0
CMTM2	146225	broad.mit.edu	37	16	66620900	66620900	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66620900G>A	ENST00000268595.2	+	3	596	c.444_splice	c.e3-1	p.D149_splice	CMTM2_ENST00000379486.2_Splice_Site_p.D96_splice	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	149	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CCACCTTCAGGACCTCTTCAA	0.512000													16	47					0	0	0.007413	0	0
TIFAB	497189	broad.mit.edu	37	5	134785608	134785608	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134785608G>A	ENST00000537858.1	-	2	222	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	8										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCACTCGCAGGACGGTGAGG	0.607000													57	36					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51742477	51742477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:51742477G>A	ENST00000251076.5	-	42	9037	c.8750C>T	c.(8749-8751)tCg>tTg	p.S2917L	DMXL2_ENST00000449909.3_Missense_Mutation_p.S2281L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2918L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2917						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCTACCCCCCGAGATTAGGAG	0.488000													43	77					0	0	0.003610	0	0
KRT2	3849	broad.mit.edu	37	12	53045694	53045694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53045694C>T	ENST00000309680.3	-	1	254	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	78	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		accacctcctccagccacACT	0.632000													11	37					0	0	0.000673	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:45274136G>A	ENST00000020926.3	-	4	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1.					transport vesicle		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	13					0	0	0.002096	0	0
LAMA3	3909	broad.mit.edu	37	18	21395432	21395432	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21395432G>A	ENST00000313654.9	+	17	2183	c.1941_splice	c.e17-1	p.G648_splice	LAMA3_ENST00000399516.3_Splice_Site_p.G648_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	648	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCTGCAGGGAGATGGTGA	0.423000													21	47					0	0	0.002299	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													38	89					0	0	0.004878	0	0
PRB4	5545	broad.mit.edu	37	12	11461537	11461537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11461537C>T	ENST00000279575.1	-	3	413	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G127E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	190	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.602000										HNSCC(22;0.051)			6	138					0	0	0.004482	0	0
FIBIN	387758	broad.mit.edu	37	11	27016309	27016309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:27016309C>T	ENST00000318627.2	+	1	682	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	79						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTGAGCCTCACCCTGCGGGAG	0.652000													8	5					0	0	0.003080	0	0
PDX1	3651	broad.mit.edu	37	13	28498598	28498598	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:28498598G>A	ENST00000381033.4	+	2	731	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	204					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GGAAAAAGGAGGAGGACAAGA	0.647000													62	144					0	0	0.003610	0	0
OR5K3	403277	broad.mit.edu	37	3	98110187	98110187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98110187G>A	ENST00000383695.1	+	1	678	c.678G>A	c.(676-678)atG>atA	p.M226I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATTTACAATGAAATCCAAGG	0.343000													12	65					0	0	0.000978	0	0
AKAP3	10566	broad.mit.edu	37	12	4737380	4737380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4737380G>A	ENST00000545990.2	-	5	1212	c.688C>T	c.(688-690)Cca>Tca	p.P230S	AKAP3_ENST00000228850.1_Missense_Mutation_p.P230S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	230					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGTCATCTGGACCCTGTCTT	0.448000													24	59					0	0	0.005443	0	0
CRB2	286204	broad.mit.edu	37	9	126133596	126133596	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126133596C>T	ENST00000373631.3	+	8	2176	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	CRB2_ENST00000359999.3_Silent_p.L725L|CRB2_ENST00000373629.2_Silent_p.L393L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	725	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGATGGGCTCCGTCACCTGG	0.667000													28	81					0	0	0.001512	0	0
SVEP1	79987	broad.mit.edu	37	9	113241924	113241924	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113241924C>T	ENST00000401783.2	-	13	2814	c.2478G>A	c.(2476-2478)ctG>ctA	p.L826L	SVEP1_ENST00000374469.1_Silent_p.L803L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.L826L|SVEP1_ENST00000374461.1_Silent_p.L803L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	826					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCATTTTTCCCAGGGTCGTCT	0.388000													68	118					0	0	0.003610	0	0
FAM120A	23196	broad.mit.edu	37	9	96261096	96261096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96261096C>T	ENST00000277165.6	+	5	1152	c.958C>T	c.(958-960)Cga>Tga	p.R320*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.R320*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.R320*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.R320*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	320						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAAGTTATTCGATTTAAGAG	0.333000													47	65					0	0	0.003610	0	0
NRCAM	4897	broad.mit.edu	37	7	107807505	107807505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107807505C>T	ENST00000379028.3	-	30	3797	c.3327G>A	c.(3325-3327)tgG>tgA	p.W1109*	NRCAM_ENST00000379022.4_Nonsense_Mutation_p.W1109*|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Nonsense_Mutation_p.W1109*|NRCAM_ENST00000351718.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1109	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTCTTTTCTCCATTCTTCTT	0.378000													29	3					0	0	0.001786	0	0
DNAH3	55567	broad.mit.edu	37	16	20975658	20975658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20975658G>A	ENST00000261383.3	-	53	9547	c.9548C>T	c.(9547-9549)cCa>cTa	p.P3183L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3183	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCAACTTCTGGGAGGTAATG	0.478000													36	35					0	0	0.003755	0	0
MUC17	140453	broad.mit.edu	37	7	100678579	100678579	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100678579G>A	ENST00000306151.4	+	3	3946	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1294	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCC	0.483000													7	712					0	0	0.005443	0	0
ALPK2	115701	broad.mit.edu	37	18	56203321	56203321	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:56203321C>T	ENST00000361673.3	-	5	4311	c.4098G>A	c.(4096-4098)aaG>aaA	p.K1366K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAACATTTTCCTTCCCTCCAG	0.453000													62	42					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9080501C>T	ENST00000397910.4	-	2	9733	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGGAATTTCCTTGTGCTGC	0.498000													38	85					0	0	0.003610	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15874796C>T	ENST00000375847.3	+	7	1060	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_ENST00000375849.1_Missense_Mutation_p.S299L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.S299L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000													18	25					0	0	0.004990	0	0
AKAP9	10142	broad.mit.edu	37	7	91730219	91730219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:91730219C>T	ENST00000359028.2	+	45	11183	c.10958C>T	c.(10957-10959)gCc>gTc	p.A3653V	AKAP9_ENST00000358100.2_Missense_Mutation_p.A3599V|AKAP9_ENST00000356239.3_Missense_Mutation_p.A3649V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3653					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCATCATTGCCTCTGAAAAA	0.403000			T	BRAF	papillary thyroid								35	114					0	0	0.002222	0	0
OR2M3	127062	broad.mit.edu	37	1	248366471	248366471	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248366471C>T	ENST00000456743.1	+	1	140	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCTGGCCATCTTTTCAGTGG	0.542000													61	239					0	0	0.003610	0	0
TTC7A	57217	broad.mit.edu	37	2	47221609	47221609	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:47221609C>T	ENST00000319190.5	+	7	1325	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TTC7A_ENST00000394850.2_Silent_p.F319F|TTC7A_ENST00000409245.1_Silent_p.F285F|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	319							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTTCTTTCGCCACTCAGG	0.597000													33	67					0	0	0.002096	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585494	115585494	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:115585494G>A	ENST00000371900.4	+	10	1378	c.1290G>A	c.(1288-1290)acG>acA	p.T430T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	430					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTGAAGAAACGATCACAACAA	0.348000													27	5					0	0	0.004656	0	0
CNPY3	10695	broad.mit.edu	37	6	42906465	42906465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42906465C>T	ENST00000372836.4	+	6	1144	c.773C>T	c.(772-774)cCc>cTc	p.P258L	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	258	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GACCCCAGCCCCGAGGAGGAT	0.612000													33	5					0	0	0.002222	0	0
NR2E3	10002	broad.mit.edu	37	15	72104678	72104678	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72104678G>A	ENST00000398840.2	+	0	764							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TCCAACAGCTGATGAGAATAT	0.597000													24	92					0	0	0.005443	0	0
COL21A1	81578	broad.mit.edu	37	6	55922555	55922555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:55922555C>T	ENST00000244728.5	-	30	3171	c.2774G>A	c.(2773-2775)gGa>gAa	p.G925E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G922E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G925E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G291E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGATTCCAGGTTTTCC	0.517000													5	16					0	0	0.000602	0	0
CDHR2	54825	broad.mit.edu	37	5	176011704	176011704	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176011704C>T	ENST00000510636.1	+	19	2696	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	CDHR2_ENST00000506348.1_Silent_p.L808L|CDHR2_ENST00000261944.5_Silent_p.L808L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	808	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCCCCCACCCTGGATGTAGC	0.597000													20	117					0	0	0.001523	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505596	39505596	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:39505596C>A	ENST00000263881.3	-	24	2070	c.1746G>T	c.(1744-1746)ggG>ggT	p.G582G	MAP4K3_ENST00000341681.5_Silent_p.G561G|MAP4K3_ENST00000437545.1_Silent_p.G498G|MAP4K3_ENST00000536018.1_Silent_p.G135G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	582	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GGGTATAAATCCCTTCTTCGG	0.254000													10	37					1.08611e-07	1.7559e-07	0.000978	1	0
CEP350	9857	broad.mit.edu	37	1	180062207	180062207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180062207C>T	ENST00000367607.3	+	34	7385	c.6967C>T	c.(6967-6969)Cat>Tat	p.H2323Y	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2323						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGAAAATCTCCATAAAAGTGA	0.343000													12	14					0	0	0.001855	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345187	135345187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135345187C>T	ENST00000463117.2	+	5	708	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R146W|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	146					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CAATGAGAGCCGGATCCAGAG	0.567000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				28	29					0	0	0.006320	0	0
CHD3	1107	broad.mit.edu	37	17	7798840	7798840	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7798840T>C	ENST00000380358.4	+	10	1865	c.1864T>C	c.(1864-1866)Tcc>Ccc	p.S622P	CHD3_ENST00000330494.7_Missense_Mutation_p.S563P|CHD3_ENST00000358181.4_Missense_Mutation_p.S563P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	563					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGGCACTGCTCCTGGGCCAA	0.537000													15	69					0	0	0.004007	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553072	178553072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178553072C>T	ENST00000251582.7	-	18	2778	c.2677G>A	c.(2677-2679)Ggc>Agc	p.G893S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	893	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCACAGAAGCCACGGTGTACC	0.652000													14	107					0	0	0.004007	0	0
ZNF852	285346	broad.mit.edu	37	3	44541327	44541327	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44541327G>A	ENST00000436261.1	-	4	1102	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	314					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GATGGTCAATGAGATTTCTAT	0.413000													10	26					0	0	0.001855	0	0
PSPC1	55269	broad.mit.edu	37	13	20279827	20279827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:20279827G>A	ENST00000338910.4	-	8	1520	c.1361C>T	c.(1360-1362)cCa>cTa	p.P454L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	454	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGGCATCATTGGAGTTCCCAT	0.413000													10	27					0	0	0.000978	0	0
ITPKC	80271	broad.mit.edu	37	19	41245435	41245435	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41245435C>T	ENST00000263370.2	+	7	2055	c.2022C>T	c.(2020-2022)atC>atT	p.I674I		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	674						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAACATGATCTGCCTCCTGC	0.642000													7	9					0	0	0.003080	0	0
PUS7L	83448	broad.mit.edu	37	12	44148400	44148400	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:44148400C>G	ENST00000416848.2	-	2	1137	c.649G>C	c.(649-651)Gac>Cac	p.D217H	PUS7L_ENST00000553166.1_Missense_Mutation_p.D217H|PUS7L_ENST00000551923.1_Missense_Mutation_p.D217H|PUS7L_ENST00000344862.5_Missense_Mutation_p.D217H|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	217					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTAAAAAAGTCAAATGCTTCC	0.299000													16	79					0	0	0.003163	0	0
CD74	972	broad.mit.edu	37	5	149792262	149792262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149792262C>T	ENST00000353334.6	-	1	230	c.51G>A	c.(49-51)atG>atA	p.M17I	CD74_ENST00000377795.3_Missense_Mutation_p.M17I|CD74_ENST00000009530.7_Missense_Mutation_p.M17I|CD74_ENST00000524315.1_Missense_Mutation_p.M17I	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	17					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTCATCCATGACTGGCT	0.617000			T	ROS1	NSCLC								36	181					0	0	0.002222	0	0
UROC1	131669	broad.mit.edu	37	3	126220104	126220104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126220104C>T	ENST00000290868.2	-	10	975	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UROC1_ENST00000383579.3_Missense_Mutation_p.E368K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	308					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGAGCACCTCCTTTTTTTTC	0.587000													94	73					0	0	0.003610	0	0
CR2	1380	broad.mit.edu	37	1	207643161	207643161	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207643161G>A	ENST00000367057.3	+	6	1128	c.939G>A	c.(937-939)gtG>gtA	p.V313V	CR2_ENST00000367058.3_Silent_p.V313V|CR2_ENST00000367059.3_Silent_p.V313V|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.V313V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	313	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGGAAGGAGTGAACTTCATCC	0.483000													6	38					0	0	0.003080	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646600	19646600	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:19646600G>A	ENST00000457500.2	-	2	668	c.339C>T	c.(337-339)acC>acT	p.T113T	ALDH3A1_ENST00000444455.1_Silent_p.T113T|ALDH3A1_ENST00000395555.3_Silent_p.T113T|ALDH3A1_ENST00000225740.6_Silent_p.T113T|ALDH3A1_ENST00000494157.2_Silent_p.T40T|ALDH3A1_ENST00000485231.1_5'UTR	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	113					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGTAGTTCCAGGTGCCAATGA	0.657000													18	20					0	0	0.007413	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724818	38724818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:38724818G>A	ENST00000342213.2	-	1	756	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	137	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGCGGTGCAGGAGCGTTGGGG	0.687000													6	19					0	0	0.001168	0	0
COLEC12	81035	broad.mit.edu	37	18	335150	335150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:335150C>T	ENST00000400256.3	-	6	1615	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	470	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCCTTCTCTCCTTTCTGTCCC	0.617000													28	6					0	0	0.006320	0	0
ACOT11	26027	broad.mit.edu	37	1	55050413	55050413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55050413G>A	ENST00000371316.3	+	2	201	c.119G>A	c.(118-120)gGa>gAa	p.G40E	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.G40E	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	40	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GACGGCGAGGGATACCGGAAC	0.632000													5	17					0	0	0.000602	0	0
HRNR	388697	broad.mit.edu	37	1	152191892	152191892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152191892C>T	ENST00000368801.2	-	3	2288	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	738					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTCACTCCTAGATGACTG	0.557000													51	193					0	0	0.003610	0	0
DDC	1644	broad.mit.edu	37	7	50531040	50531040	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50531040A>G	ENST00000444124.2	-	14	1532	c.1332T>C	c.(1330-1332)ttT>ttC	p.F444F	DDC_ENST00000357936.5_Silent_p.F444F|DDC_ENST00000426377.1_Silent_p.F366F|DDC_ENST00000431062.1_Silent_p.F351F	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	444					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGCGCAGGACAAACTTGTCCC	0.527000													18	64					0	0	0.006122	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79730011	79730011	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79730011C>T	ENST00000338008.5	+	2	225	c.45C>T	c.(43-45)ctC>ctT	p.L15L	ZFYVE16_ENST00000510158.1_Silent_p.L15L|ZFYVE16_ENST00000505560.1_Silent_p.L15L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	15					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGGACAAACTCCTTGATGATT	0.333000													86	36					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52370068	52370068	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52370068G>A	ENST00000356297.4	-	9	1072	c.972C>T	c.(970-972)tcC>tcT	p.S324S	PXDNL_ENST00000543296.1_Silent_p.S324S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	324					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGAAGACTGGAGTATCTGA	0.413000													24	33					0	0	0.002780	0	0
FREM2	341640	broad.mit.edu	37	13	39263123	39263123	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:39263123C>T	ENST00000280481.7	+	1	1858	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	548					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)		GGTACAGTTTCTGTTCCCCAT	0.592000													5	7					0	0	0.000602	0	0
JAK3	3718	broad.mit.edu	37	19	17940954	17940954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17940954C>T	ENST00000458235.1	-	23	3269	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	JAK3_ENST00000527670.1_Missense_Mutation_p.G1057D|JAK3_ENST00000534444.1_Missense_Mutation_p.G1057D	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1057	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGCCTCTGGCCCTCCTCCAG	0.667000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	2					0	0	0.000978	0	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:135618348G>A	ENST00000370634.3	+	2	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000													29	34					0	0	0.002445	0	0
TRIP10	9322	broad.mit.edu	37	19	6744928	6744928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6744928C>T	ENST00000600428.1	+	9	1229	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	TRIP10_ENST00000313244.9_Missense_Mutation_p.P303S|TRIP10_ENST00000313285.8_Missense_Mutation_p.P303S|TRIP10_ENST00000596758.1_Missense_Mutation_p.P303S			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	303	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCTGGGCACCCCCTCGGATGG	0.652000													35	24					0	0	0.002445	0	0
LRRC34	151827	broad.mit.edu	37	3	169525424	169525424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:169525424C>T	ENST00000522526.2	-	3	768	c.331G>A	c.(331-333)Gat>Aat	p.D111N	LRRC34_ENST00000446859.1_Missense_Mutation_p.D111N|LRRC34_ENST00000522830.1_Missense_Mutation_p.D50N|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000316515.7_Missense_Mutation_p.D98N			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	98										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATCCAAAAATCTTCACCTGTA	0.303000													12	55					0	0	0.003163	0	0
ACAA1	30	broad.mit.edu	37	3	38169315	38169315	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38169315C>T	ENST00000333167.8	-	7	760	c.588G>A	c.(586-588)cgG>cgA	p.R196R	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Silent_p.R44R|ACAA1_ENST00000301810.7_Silent_p.R163R|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Silent_p.R155R	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	196					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCTGCTTCTCCCGTGAAATGC	0.502000													14	52					0	0	0.004007	0	0
FAM83E	54854	broad.mit.edu	37	19	49106982	49106982	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49106982G>A	ENST00000263266.3	-	4	1134	c.945C>T	c.(943-945)tcC>tcT	p.S315S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	315										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGCGGCGGCGGGACACGCGGT	0.801000													5	0					0	0	0.000602	0	0
KCNK9	51305	broad.mit.edu	37	8	140631316	140631316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:140631316C>T	ENST00000520439.1	-	2	373	c.310G>A	c.(310-312)Gat>Aat	p.D104N	KCNK9_ENST00000303015.1_Missense_Mutation_p.D104N			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	104						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTGCCCGCATCGGTGCCAGGT	0.612000													9	7					0	0	0.006214	0	0
E2F2	1870	broad.mit.edu	37	1	23847473	23847473	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:23847473G>A	ENST00000361729.2	-	4	1095	c.669C>T	c.(667-669)gcC>gcT	p.A223A		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	223	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCTGGTCCAAGGCCTGCTCCG	0.577000													17	22					0	0	0.006122	0	0
GAA	2548	broad.mit.edu	37	17	78084763	78084763	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78084763C>T	ENST00000302262.3	+	11	1794	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	GAA_ENST00000390015.3_Silent_p.F525F	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	525					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CTTCCAACTTCATCAGGGGCT	0.602000													22	39					0	0	0.003330	0	0
TMEM57	55219	broad.mit.edu	37	1	25824876	25824876	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:25824876C>T	ENST00000374343.4	+	11	2093	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	TMEM57_ENST00000399763.3_Silent_p.P280P|TMEM57_ENST00000399766.3_Silent_p.P411P	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	638						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTTCCCCCCACTACTCTT	0.537000													34	39					0	0	0.003271	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:120475859G>A	ENST00000355622.6	+	3	1554	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	485					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000													22	34					0	0	0.001523	0	0
AKR7L	246181	broad.mit.edu	37	1	19597390	19597390	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:19597390G>A	ENST00000420396.2	-	0	253				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGGCTTCAGGGAGTTCCCAAT	0.522000													10	19					0	0	0.000673	0	0
TDP1	55775	broad.mit.edu	37	14	90446902	90446902	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:90446902C>T	ENST00000335725.4	+	8	1060	c.810C>T	c.(808-810)ctC>ctT	p.L270L	TDP1_ENST00000357382.3_Silent_p.L31L|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Silent_p.L270L|TDP1_ENST00000393452.3_Silent_p.L270L|TDP1_ENST00000555880.1_Silent_p.L270L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	270					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGCTGCTGCTCTATGAAGAAG	0.418000								Repair of DNA-protein crosslinks					37	13					0	0	0.002222	0	0
ARAP2	116984	broad.mit.edu	37	4	36075412	36075412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:36075412C>T	ENST00000303965.4	-	32	5131	c.4642G>A	c.(4642-4644)Gaa>Aaa	p.E1548K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1548					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CGTTTTCGTTCCTTTCCAGCT	0.398000													26	28					0	0	0.005443	0	0
PSD4	23550	broad.mit.edu	37	2	113943480	113943480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113943480G>A	ENST00000245796.6	+	5	1471	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	PSD4_ENST00000441564.2_Intron	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	426					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACACCCCCAGGAATCTCTTCC	0.642000													12	10					0	0	0.001368	0	0
NELL2	4753	broad.mit.edu	37	12	45173792	45173792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:45173792C>T	ENST00000429094.2	-	4	853	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	NELL2_ENST00000549027.1_Missense_Mutation_p.E116K|NELL2_ENST00000452445.2_Missense_Mutation_p.E117K|NELL2_ENST00000333837.4_Missense_Mutation_p.E140K|NELL2_ENST00000437801.2_Missense_Mutation_p.E167K|NELL2_ENST00000551601.1_Missense_Mutation_p.E116K|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.E116K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	117	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCACTACTTTCCAGTTCCAGG	0.458000													16	81					0	0	0.007413	0	0
EVX2	344191	broad.mit.edu	37	2	176948121	176948121	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:176948121G>A	ENST00000308618.4	-	1	520	c.384C>T	c.(382-384)ccC>ccT	p.P128P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGAGGCCCCCGGGGGAGCGAA	0.687000													7	9					0	0	0.001984	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930226	47930226	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:47930226G>A	ENST00000289672.2	-	16	2639	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	863	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCATCACAAGGAACTGATCAT	0.582000													22	67					0	0	0.001523	0	0
C19orf40	91442	broad.mit.edu	37	19	33464112	33464112	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:33464112A>G	ENST00000588258.1	+	2	120	c.10A>G	c.(10-12)Aac>Gac	p.N4D	C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Missense_Mutation_p.N4D|C19orf40_ENST00000589646.1_Intron	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	4					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CATGGAAAAGAACCCCCCTGA	0.607000								Direct reversal of damage					21	58					0	0	0.002299	0	0
HNF4A	3172	broad.mit.edu	37	20	43052704	43052704	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43052704C>T	ENST00000316099.3	+	8	1028	c.939C>T	c.(937-939)tcC>tcT	p.S313S	HNF4A_ENST00000457232.1_Silent_p.S291S|HNF4A_ENST00000443598.2_Silent_p.S313S|HNF4A_ENST00000415691.1_Silent_p.S313S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	313					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTGCGTTCCCAGGTGCAGG	0.612000													57	312					0	0	0.003610	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:43032468C>T	ENST00000399770.2	+	4	784	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R262*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000													47	55					0	0	0.003610	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816930	69816930	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:69816930C>T	ENST00000251566.4	-	1	579	c.549G>A	c.(547-549)ggG>ggA	p.G183G	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	183						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGAAGTTTCCCACAGCTTC	0.448000													8	11					0	0	0.004482	0	0
DDX5	1655	broad.mit.edu	37	17	62496442	62496442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:62496442G>A	ENST00000225792.5	-	13	1845	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.R403C|DDX5_ENST00000578804.1_Missense_Mutation_p.R482C	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	482					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCCTGGAACGACCTGTCAAG	0.418000			T	ETV4	prostate								42	46					0	0	0.002522	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558273	56558273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56558273C>T	ENST00000550164.1	-	28	3489	c.3475G>A	c.(3475-3477)Ggc>Agc	p.G1159S	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G1128S			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1128	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAGAGTGCCCGGGGCGAAC	0.592000													26	22					0	0	0.004656	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040547	103040547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103040547C>T	ENST00000264260.2	+	4	936	c.347C>T	c.(346-348)cCa>cTa	p.P116L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	116					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						TTTTTGACCCCAGGGGTGAAT	0.373000													24	14					0	0	0.003330	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200811132	200811132	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200811132T>C	ENST00000358823.2	+	7	1208	c.938T>C	c.(937-939)tTg>tCg	p.L313S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L313S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L324S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	324	CH.					cytoplasm|microtubule	protein binding										AGTAATTATTTGGTGTTCATG	0.338000													27	68					0	0	0.006320	0	0
CLC	1178	broad.mit.edu	37	19	40224958	40224958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40224958C>T	ENST00000221804.4	-	3	343	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	90	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATGCTCAGTTCAAATTCTTGG	0.562000													28	54					0	0	0.006320	0	0
ACTR3B	57180	broad.mit.edu	37	7	152550596	152550596	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:152550596C>T	ENST00000256001.8	+	11	1229	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ACTR3B_ENST00000537264.1_Silent_p.V277V|ACTR3B_ENST00000397282.2_Silent_p.V277V|ACTR3B_ENST00000377776.3_Intron	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	365					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGTGGAGGTCCAGGTGGTCA	0.587000													12	36					0	0	0.002450	0	0
TTC25	83538	broad.mit.edu	37	17	40094955	40094955	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40094955G>A	ENST00000591658.1	+	0	839							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGATGCAAGAGAAATGGCTGC	0.547000													51	104					0	0	0.003610	0	0
ZNF28	7576	broad.mit.edu	37	19	53304429	53304429	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53304429G>A	ENST00000438150.2	-	2	1403	c.510C>T	c.(508-510)tcC>tcT	p.S170S	ZNF28_ENST00000360272.4_Silent_p.S170S|ZNF28_ENST00000457749.2_Silent_p.S223S|ZNF28_ENST00000414252.2_Silent_p.S170S			P17035	ZNF28_HUMAN	zinc finger protein 28	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TACAATTAAAGGATTTGCCAC	0.323000													31	82					0	0	0.001786	0	0
C7	730	broad.mit.edu	37	5	40964869	40964869	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:40964869G>A	ENST00000313164.9	+	14	2135	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	592	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTCCTGTGGGGAAAAATGTAG	0.368000													6	77					0	0	0.001168	0	0
ACOT4	122970	broad.mit.edu	37	14	74062026	74062026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74062026G>A	ENST00000326303.4	+	3	1188	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	312					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GATTCCAATAGAGAAGGCCCA	0.507000													21	18					0	0	0.001216	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038874	17038874	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17038874C>T	ENST00000443236.1	-	25	3487	c.3456G>A	c.(3454-3456)ctG>ctA	p.L1152L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1105						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGGGACCCCCAGGGTGAAGG	0.627000													31	20					0	0	0.004289	0	0
ARNT2	9915	broad.mit.edu	37	15	80867401	80867401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:80867401C>T	ENST00000533983.1	+	15	1769	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	ARNT2_ENST00000303329.4_Missense_Mutation_p.S488F|ARNT2_ENST00000527771.1_Missense_Mutation_p.S477F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	488					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAATCTTCTCCCAGGAAAGA	0.473000													34	135					0	0	0.004289	0	0
LARGE	9215	broad.mit.edu	37	22	33700406	33700406	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:33700406G>A	ENST00000354992.2	-	13	2110	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	LARGE_ENST00000397394.2_Silent_p.F513F|LARGE_ENST00000452586.2_Silent_p.F312F|LARGE_ENST00000437602.2_Silent_p.F513F|LARGE_ENST00000337431.2_Silent_p.F461F|LARGE_ENST00000402320.1_Silent_p.F461F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	513					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CGTAGCGGAGGAACTGCTGGG	0.627000													9	37					0	0	0.004482	0	0
CHGB	1114	broad.mit.edu	37	20	5904347	5904347	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:5904347G>A	ENST00000378961.4	+	4	1761	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	519						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAGATTAGGGGAACTGTTCA	0.448000													7	4					0	0	0.003080	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022449	161022449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161022449G>A	ENST00000368013.3	-	7	1123	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P91L|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P268L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTATGGTAGGGCCGCATCTG	0.592000													6	29					0	0	0.001168	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369101	37369101	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:37369101C>T	ENST00000361924.2	+	14	6098	c.5724C>T	c.(5722-5724)tcC>tcT	p.S1908S	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.S1930S	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1908	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGAAAAGTCCAAATCACATT	0.393000													47	36					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152861132	152861132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152861132C>T	ENST00000367255.5	-	4	693	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SYNE1_ENST00000413186.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R31Q|SYNE1_ENST00000466159.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R31Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R31Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R31Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	31	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTGAAAGTTCGTTTTTGTAC	0.338000										HNSCC(10;0.0054)			74	21					0	0	0.003610	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671442	51671442	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51671442G>A	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TGTGAGCAGGGAACACCCCCC	0.637000													19	47					0	0	0.002299	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087068	39087068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39087068G>A	ENST00000400482.3	-	3	981	c.392C>T	c.(391-393)cCt>cTt	p.P131L	KCNJ6_ENST00000288309.6_Missense_Mutation_p.P131L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	131					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTAACACAAGGAGTCCAGGA	0.468000													22	74					0	0	0.002299	0	0
MYO18B	84700	broad.mit.edu	37	22	26270264	26270264	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26270264G>A	ENST00000335473.7	+	23	4213	c.3963G>A	c.(3961-3963)aaG>aaA	p.K1321K	MYO18B_ENST00000536101.1_Silent_p.K1321K|MYO18B_ENST00000407587.2_Silent_p.K1322K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1321	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTTTCTCAAGGCAGGTGTGA	0.547000													107	15					0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29600443	29600443	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:29600443C>T	ENST00000431530.3	+	1	1696	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	536						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGCACCCCTCCACCCAGAGA	0.493000													18	31					0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196694310	196694310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196694310C>T	ENST00000367429.4	+	12	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	586	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAAGAAAGACCAGTATAAAGT	0.353000													29	19					0	0	0.005443	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580519	178580519	+	Silent	SNP	G	G	A	rs147438064	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178580519G>A	ENST00000251582.7	-	9	1589	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ADAMTS2_ENST00000274609.5_Silent_p.F496F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	496	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCCAGGCCGAAGTCAAAGC	0.672000													5	25					0	0	0.001168	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671026	22671026	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22671026G>A	ENST00000390460.1	+	0	91																											GGAGAGTAACGAAGAAGAGCC	0.463000													26	27					0	0	0.007291	0	0
FARP1	10160	broad.mit.edu	37	13	99061620	99061620	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:99061620C>T	ENST00000376586.2	+	14	1779	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	FARP1_ENST00000595437.1_Silent_p.S481S|FARP1_ENST00000319562.6_Silent_p.S481S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	481					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTTTCCGAGCTGTCTG	0.517000													17	27					0	0	0.002299	0	0
ASXL2	55252	broad.mit.edu	37	2	26022340	26022340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26022340G>A	ENST00000435504.4	-	5	610	c.317C>T	c.(316-318)tCa>tTa	p.S106L	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S78L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	106	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGAATCTGACTGACCATC	0.458000													41	99					0	0	0.006999	0	0
NLRP5	126206	broad.mit.edu	37	19	56539352	56539352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56539352C>T	ENST00000390649.3	+	7	1753	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	585	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)		CTTCTTCCACCTCAGTCTCCA	0.537000													10	21					0	0	0.001368	0	0
MAPT	4137	broad.mit.edu	37	17	44067303	44067303	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:44067303C>T	ENST00000344290.5	+	8	1564	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	MAPT_ENST00000571987.1_Silent_p.H414H|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Silent_p.H414H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.H414H|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	414				H -> L (in Ref. 5; AAC04277).	cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCCCCAAACACCCCACTCCTG	0.468000													127	182					0	0	0.003610	0	0
ADCY3	109	broad.mit.edu	37	2	25141686	25141686	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25141686G>A	ENST00000260600.5	-	1	1022	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	57					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTCCGGCACGAAAGTCAGCC	0.627000													15	37					0	0	0.004990	0	0
MMRN2	79812	broad.mit.edu	37	10	88704965	88704965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88704965C>T	ENST00000372027.4	-	4	534	c.461G>A	c.(460-462)gGa>gAa	p.G154E		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	154						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCTGACTGGTCCATCCTGAGG	0.552000													20	15					0	0	0.003330	0	0
LOC150776	150776	broad.mit.edu	37	2	132266173	132266173	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:132266173C>T	ENST00000438378.2	+	0	1226					NR_026922.1																						GCAGTCCCCTCATGCCAAGGT	0.453000													4	20					0	0	0.000248	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606030	116606030	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:116606030C>T	ENST00000369248.4	+	10	1637	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	FAM160B1_ENST00000369250.3_Silent_p.I434I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	434										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGTTTTTTATCCTTGGAGAAC	0.423000													58	48					0	0	0.003610	0	0
GPR39	2863	broad.mit.edu	37	2	133175238	133175238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:133175238C>T	ENST00000329321.3	+	1	1092	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	208						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAATATGTCCATCTGTACC	0.622000													12	39					0	0	0.001855	0	0
RREB1	6239	broad.mit.edu	37	6	7230453	7230453	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7230453C>T	ENST00000379938.2	+	10	2658	c.2121C>T	c.(2119-2121)ccC>ccT	p.P707P	RREB1_ENST00000379933.3_Silent_p.P707P|RREB1_ENST00000334984.6_Silent_p.P707P|RREB1_ENST00000349384.6_Silent_p.P707P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	707					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCACTACCCCTTCACTGTCA	0.597000													44	39					0	0	0.003610	0	0
SKAP1	8631	broad.mit.edu	37	17	46262156	46262156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46262156G>A	ENST00000336915.6	-	7	565	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	SKAP1_ENST00000584924.1_Missense_Mutation_p.P166S	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	166	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CGCAGGTGGGGGGCCATCCGT	0.542000													30	126					0	0	0.001512	0	0
IL25	64806	broad.mit.edu	37	14	23842583	23842583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23842583G>A	ENST00000329715.2	+	1	514	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	IL25_ENST00000397242.2_Missense_Mutation_p.A70T	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	86					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAACAGCAGGGCCATCTCCCC	0.632000													8	33					0	0	0.000673	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:40980844C>T	ENST00000373198.3	-	10	1877	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E548K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E548K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000													43	69					0	0	0.002522	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627177	108627177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:108627177G>A	ENST00000264047.2	+	9	1879	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	SLC5A7_ENST00000540517.1_Missense_Mutation_p.E430K|SLC5A7_ENST00000409059.1_Missense_Mutation_p.E535K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	535					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTCAAAAATGAAAATATTAA	0.373000													15	18					0	0	0.003163	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767519	143767519	+	Silent	SNP	G	G	A	rs66906173		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:143767519G>A	ENST00000419275.1	-	1	362	c.330C>T	c.(328-330)tcC>tcT	p.S110S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	110	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TGAAAAACTGGGAACCATTTG	0.478000													15	308					0	0	0.003610	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662767	40662767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40662767C>T	ENST00000454349.2	+	5	2744	c.2533C>T	c.(2533-2535)Cca>Tca	p.P845S	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P845S|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	845	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGGCCCACCCCCACCACCTCC	0.612000													8	46					0	0	0.003080	0	0
LTBP3	4054	broad.mit.edu	37	11	65315422	65315422	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65315422G>A	ENST00000301873.5	-	12	2083	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	LTBP3_ENST00000532932.1_Silent_p.Y35Y|LTBP3_ENST00000322147.4_Silent_p.Y605Y|LTBP3_ENST00000536982.1_Silent_p.Y231Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	605	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GATGTGACCGGTAGCCGGGGT	0.667000													25	16					0	0	0.005443	0	0
SCYL1	57410	broad.mit.edu	37	11	65306023	65306023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65306023C>T	ENST00000270176.5	+	18	2490	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W	SCYL1_ENST00000525364.1_3'UTR|SCYL1_ENST00000527630.1_Missense_Mutation_p.R704W|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000527009.1_Missense_Mutation_p.R662W|SCYL1_ENST00000533862.1_3'UTR|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000279270.6_3'UTR|SCYL1_ENST00000420247.2_Missense_Mutation_p.R788W	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	805	Interaction with COPB1 (By similarity).				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCTGGGAGCCCGGAAGCTGGA	0.677000													8	15					0	0	0.006214	0	0
GFAP	2670	broad.mit.edu	37	17	42990641	42990641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42990641G>A	ENST00000253408.5	-	4	841	c.776C>T	c.(775-777)tCc>tTc	p.S259F	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.S259F|GFAP_ENST00000435360.2_Missense_Mutation_p.S259F	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	259	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGCTACCTTGGAGCGGTACCA	0.602000													60	132					0	0	0.003610	0	0
LILRB5	10990	broad.mit.edu	37	19	54760628	54760628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54760628G>A	ENST00000450632.1	-	3	156	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P27S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P27S|LILRB5_ENST00000316219.5_Missense_Mutation_p.P27S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGGTTTGGGGAGGGTGCCT	0.622000													9	45					0	0	0.000673	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233322730G>A	ENST00000295463.3	+	8	956	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000													12	15					0	0	0.002450	0	0
PALD1	27143	broad.mit.edu	37	10	72291073	72291073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291073G>A	ENST00000263563.6	+	5	764	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGTGCGGGAGGAACCTGTGCT	0.587000													22	50					0	0	0.002780	0	0
ACVRL1	94	broad.mit.edu	37	12	52307413	52307413	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52307413C>T	ENST00000550683.1	+	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Silent_p.A128A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	128					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCGTGCTGGCCTTGCTGGCCC	0.682000													7	23					0	0	0.001984	0	0
ETV3	2117	broad.mit.edu	37	1	157103994	157103994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157103994G>A	ENST00000368192.4	-	4	374	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ETV3_ENST00000326786.4_Missense_Mutation_p.H104Y	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	104							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTGTTTTATGAAGGATCCTC	0.373000													8	45					0	0	0.004482	0	0
OR2B6	26212	broad.mit.edu	37	6	27925809	27925809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:27925809C>T	ENST00000244623.1	+	1	791	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAACCACCTTCGCCCAGCTCC	0.453000													92	50					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882320	228882320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228882320C>T	ENST00000392056.3	-	7	3296	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1084K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1084						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAATGCTTTCGCAGCTGGAG	0.622000													20	23					0	0	0.001882	0	0
RAVER2	55225	broad.mit.edu	37	1	65255101	65255101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:65255101G>A	ENST00000294428.3	+	5	1087	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RAVER2_ENST00000430964.2_Missense_Mutation_p.E43K|RAVER2_ENST00000371072.4_Missense_Mutation_p.E337K			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	337						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTTACTTCCAGAGCCAAATCC	0.373000													12	27					0	0	0.000978	0	0
PPRC1	23082	broad.mit.edu	37	10	103901607	103901607	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103901607C>T	ENST00000278070.2	+	5	3381	c.3342C>T	c.(3340-3342)ccC>ccT	p.P1114P	PPRC1_ENST00000370012.1_Silent_p.P81P|PPRC1_ENST00000413464.2_Silent_p.P1114P|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1114	Pro-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)		AGAAGCCCCCCTTGCCTGCTA	0.592000													9	16					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477410	110477410	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110477410G>A	ENST00000378402.5	+	49	8453	c.8349G>A	c.(8347-8349)ccG>ccA	p.P2783P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2783					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)			CTCACACACCGAACAAGGCTG	0.408000										HNSCC(38;0.096)			37	30					0	0	0.005524	0	0
ZNF534	147658	broad.mit.edu	37	19	52942068	52942068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52942068C>T	ENST00000332323.6	+	4	1455	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S452F|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAAGTCTTCCCTAACCTAT	0.423000													11	4					0	0	0.000978	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870620	140870620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140870620C>T	ENST00000252087.1	+	1	1813	c.1813C>T	c.(1813-1815)Ctc>Ttc	p.L605F	PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		605	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGTGGCTCTCCTACTC	0.617000													31	17					0	0	0.003271	0	0
RNF214	257160	broad.mit.edu	37	11	117152097	117152097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:117152097C>T	ENST00000530849.1	+	8	758	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RNF214_ENST00000531287.1_Missense_Mutation_p.R250W|RNF214_ENST00000531452.1_Missense_Mutation_p.R405W|RNF214_ENST00000300650.4_Missense_Mutation_p.R405W			Q8ND24	RN214_HUMAN	ring finger protein 214	405							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAATGGAGTTCGGATAATGAA	0.423000													7	3					0	0	0.003080	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214133	1214133	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:1214133C>T	ENST00000304460.10	+	6	896	c.840C>T	c.(838-840)tcC>tcT	p.S280S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCCTTCTCCCTGGCCTTCG	0.637000													7	76					0	0	0.004482	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589632	160589632	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:160589632C>T	ENST00000302035.6	-	5	1147	c.798G>A	c.(796-798)acG>acA	p.T266T	SLAMF1_ENST00000235739.5_Silent_p.T236T|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Silent_p.T266T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	266					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTAATGGTTCGTTTTACCTG	0.438000													27	122					0	0	0.005443	0	0
SYCP2	10388	broad.mit.edu	37	20	58442899	58442899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:58442899G>A	ENST00000357552.3	-	39	4217	c.3992C>T	c.(3991-3993)tCt>tTt	p.S1331F	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1331F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1331					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TACACTTTCAGACACTAAAAA	0.323000													8	50					0	0	0.004482	0	0
LCT	3938	broad.mit.edu	37	2	136547308	136547308	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:136547308T>A	ENST00000264162.2	-	16	5406	c.5396A>T	c.(5395-5397)gAg>gTg	p.E1799V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1799	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTGGCCCACTCAAAATTGTC	0.493000													33	75					0	0	0.004878	0	0
NINL	22981	broad.mit.edu	37	20	25507211	25507211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:25507211C>T	ENST00000278886.6	-	2	86	c.13G>A	c.(13-15)Gag>Aag	p.E5K	NINL_ENST00000422516.1_Missense_Mutation_p.E5K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	5					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TAGTGGTTCTCTTCTTCATCC	0.572000													38	95					0	0	0.001951	0	0
THEMIS	387357	broad.mit.edu	37	6	128134340	128134340	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128134340C>T	ENST00000368250.1	-	5	1707	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	THEMIS_ENST00000368248.2_Silent_p.E482E|THEMIS_ENST00000543064.1_Silent_p.E482E|THEMIS_ENST00000537166.1_Silent_p.E447E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	482	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAATGTCCTCCTCCAACTGCA	0.493000													27	10					0	0	0.004656	0	0
FMOD	2331	broad.mit.edu	37	1	203316868	203316868	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203316868G>A	ENST00000354955.4	-	2	994	c.531C>T	c.(529-531)tcC>tcT	p.S177S	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	177					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCTCTCTCAGGGATCGAGGCA	0.592000													39	150					0	0	0.002222	0	0
C10orf10	11067	broad.mit.edu	37	10	45472977	45472977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:45472977C>T	ENST00000298295.3	-	2	719	c.502G>A	c.(502-504)Gat>Aat	p.D168N	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	168						mitochondrion				lung(1)	1						TGCTGCCCATCCTGCGGTGGT	0.637000													24	18					0	0	0.004656	0	0
TSIX	9383	broad.mit.edu	37	X	73043728	73043728	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73043728C>T	ENST00000604411.1	+	0	31689				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATTTTTATATCCTAGGGCATG	0.358000													17	3					0	0	0.004990	0	0
TRPV5	56302	broad.mit.edu	37	7	142627202	142627202	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142627202C>T	ENST00000265310.1	-	3	648	c.300G>A	c.(298-300)gaG>gaA	p.E100E	TRPV5_ENST00000442623.1_Silent_p.E100E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	100					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTGGGGCAGCCTCCATCAGCA	0.552000													16	121					0	0	0.004007	0	0
SGMS1	259230	broad.mit.edu	37	10	52071147	52071147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:52071147C>T	ENST00000361781.2	-	9	1729	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SGMS1_ENST00000429490.1_Missense_Mutation_p.R88Q	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	263					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CATTATTCTTCGCAGTTGGGC	0.453000													23	9					0	0	0.002780	0	0
ZNF697	90874	broad.mit.edu	37	1	120168512	120168512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:120168512G>A	ENST00000421812.2	-	2	331	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCAGATGTCGGGCACTGCTTC	0.502000													9	17					0	0	0.006214	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784371	9784371	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:9784371T>A	ENST00000536656.1	+	22	3036	c.2828T>A	c.(2827-2829)tTc>tAc	p.F943Y	PIK3CD_ENST00000377346.4_Missense_Mutation_p.F919Y|PIK3CD_ENST00000361110.2_Missense_Mutation_p.F943Y			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	919	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGGAATTTCAAGACCAAG	0.498000													29	42					0	0	0.002836	0	0
NCOA1	8648	broad.mit.edu	37	2	24930670	24930670	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:24930670G>A	ENST00000405141.1	+	14	3042	c.2331G>A	c.(2329-2331)aaG>aaA	p.K777K	NCOA1_ENST00000407230.1_Silent_p.K626K|NCOA1_ENST00000406961.1_Silent_p.K777K|NCOA1_ENST00000395856.3_Silent_p.K777K|NCOA1_ENST00000348332.3_Silent_p.K777K|NCOA1_ENST00000288599.5_Silent_p.K777K|NCOA1_ENST00000538539.1_Silent_p.K777K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	777									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTGGAAAAGAAAGAACAGA	0.433000			T	PAX3	alveolar rhadomyosarcoma								8	14					0	0	0.003080	0	0
DIDO1	11083	broad.mit.edu	37	20	61513284	61513284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61513284G>A	ENST00000266070.4	-	16	4349	c.4024C>T	c.(4024-4026)Ctc>Ttc	p.L1342F	DIDO1_ENST00000395343.1_Missense_Mutation_p.L1342F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1342					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTGGGGGAGACCTGCGGTG	0.577000													38	137					0	0	0.002852	0	0
KLK3	354	broad.mit.edu	37	19	51361294	51361294	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51361294G>A	ENST00000360617.3	+	3	216	c.216G>A	c.(214-216)gtG>gtA	p.V72V	KLK3_ENST00000326003.2_Silent_p.V72V|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Silent_p.V72V			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	72	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAAAAGCGTGATCTTGCTGG	0.547000													7	22					0	0	0.004482	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159755	4159755	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4159755C>T	ENST00000078445.2	+	4	699	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Silent_p.L184L|CREB3L3_ENST00000595923.1_Silent_p.L183L|CREB3L3_ENST00000602147.1_Silent_p.L184L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	184					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTCCTCCTTTCGGGCA	0.622000													20	58					0	0	0.002299	0	0
C6	729	broad.mit.edu	37	5	41143050	41143050	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41143050T>C	ENST00000263413.3	-	18	2946	c.2682A>G	c.(2680-2682)caA>caG	p.Q894Q	C6_ENST00000337836.5_Silent_p.Q894Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	894	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGTAGAGTTGGTTTCCAC	0.443000													43	30					0	0	0.002222	0	0
ANK3	288	broad.mit.edu	37	10	61830713	61830713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61830713G>A	ENST00000280772.1	-	37	10117	c.9926C>T	c.(9925-9927)cCt>cTt	p.P3309L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3309					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						TGCCCCGGGAGGAACTGGTGA	0.443000													22	87					0	0	0.004656	0	0
OR10K2	391107	broad.mit.edu	37	1	158390395	158390395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158390395G>A	ENST00000314902.2	-	1	261	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTCTTCTTCTGGGACAGCAGG	0.483000													67	84					0	0	0.003610	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994708	45994708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45994708C>T	ENST00000400374.3	+	1	1103	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	358	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCAGACCCTCCTCCTCCGTG	0.662000													21	143					0	0	0.002299	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002660	57002660	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:57002660G>A	ENST00000371250.3	-	2	815	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	88					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCACGGCACAGAGCACAGCGT	0.473000													27	57					0	0	0.002445	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789060	56789060	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:56789060G>A	ENST00000413728.2	-	3	885	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ARHGEF3_ENST00000338458.4_Silent_p.F140F|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000496106.1_Silent_p.F114F|ARHGEF3_ENST00000497267.1_Silent_p.F79F|ARHGEF3_ENST00000296315.3_Silent_p.F108F|ARHGEF3_ENST00000495373.1_Silent_p.F108F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	108					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGCACACATCGAAGGTCTCAC	0.582000													26	72					0	0	0.006320	0	0
TRPM2	7226	broad.mit.edu	37	21	45784063	45784063	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45784063C>T	ENST00000397928.1	+	3	766	c.321C>T	c.(319-321)acC>acT	p.T107T	TRPM2_ENST00000397932.2_Silent_p.T107T|TRPM2_ENST00000300482.5_Silent_p.T107T|TRPM2_ENST00000300481.9_Silent_p.T107T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	107						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCCCACACCTTCCAGGGCA	0.572000													16	39					0	0	0.006122	0	0
RGS12	6002	broad.mit.edu	37	4	3319348	3319348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:3319348C>T	ENST00000336727.3	+	2	2355	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	RGS12_ENST00000344733.5_Missense_Mutation_p.P484L|RGS12_ENST00000543385.1_Missense_Mutation_p.P484L|RGS12_ENST00000382788.3_Missense_Mutation_p.P484L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	484						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAGGGAGCCCCCCATTTGAG	0.682000													23	34					0	0	0.004656	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871694	63871694	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:63871694C>T	ENST00000334025.2	+	3	752	c.426C>T	c.(424-426)tcC>tcT	p.S142S	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	142					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGCTAAAATCCATATGTCTGC	0.428000													10	60					0	0	0.000673	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784766	140784766	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140784766C>T	ENST00000573521.1	+	1	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGAGCTTTCCTACAGACCT	0.567000													53	32					0	0	0.003610	0	0
EPHB3	2049	broad.mit.edu	37	3	184295720	184295720	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184295720C>T	ENST00000330394.2	+	8	2126	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	558						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCAGCTTCCCCTCATCGTGG	0.642000													19	40					0	0	0.001216	0	0
ARMC4	55130	broad.mit.edu	37	10	28260179	28260179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:28260179C>T	ENST00000305242.5	-	8	1092	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	ARMC4_ENST00000239715.3_Missense_Mutation_p.E191K|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.E26K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	334							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTGCTTCTTCCTTCTTGGGG	0.388000													11	26					0	0	0.000978	0	0
PRKCB	5579	broad.mit.edu	37	16	24231384	24231384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:24231384G>A	ENST00000321728.7	+	17	2141	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	656	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGACCAAAATGAATTTGCTGG	0.448000													36	25					0	0	0.006230	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760717	119760717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:119760717G>A	ENST00000304661.5	-	2	543	c.305C>T	c.(304-306)tCt>tTt	p.S102F	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.S102F	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	102						integral to membrane		p.S102F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AACATTTTCAGAACTGAAGAA	0.363000													47	7					0	0	0.002852	0	0
LTBP1	4052	broad.mit.edu	37	2	33623611	33623611	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:33623611G>A	ENST00000404816.2	+	34	5518	c.5165G>A	c.(5164-5166)tGa>tAa	p.*1722*	LTBP1_ENST00000404525.1_Silent_p.*1343*|LTBP1_ENST00000407925.1_Silent_p.*1396*|LTBP1_ENST00000272273.5_Silent_p.*620*|LTBP1_ENST00000354476.3_Silent_p.*1723*|LTBP1_ENST00000390003.4_Silent_p.*1397*|LTBP1_ENST00000418533.2_Silent_p.*1354*|LTBP1_ENST00000402934.1_Silent_p.*1341*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	0					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACCTGGAGTGAAACAGAATC	0.448000													31	24					0	0	0.002836	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44795866	44795866	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44795866C>T	ENST00000309315.4	+	2	141	c.18C>T	c.(16-18)ccC>ccT	p.P6P	ZMIZ2_ENST00000265346.7_Silent_p.P6P|ZMIZ2_ENST00000441627.1_Silent_p.P6P|ZMIZ2_ENST00000433667.1_Silent_p.P6P|ZMIZ2_ENST00000413916.1_Silent_p.P6P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	6					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCATGAACCCCATGAAACCTG	0.607000													23	78					0	0	0.007291	0	0
SPATC1	375686	broad.mit.edu	37	8	145094953	145094953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145094953G>A	ENST00000377470.3	+	2	457	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	SPATC1_ENST00000447830.2_Missense_Mutation_p.G119S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	119										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTGACAGGCACCCTCAG	0.652000													12	27					0	0	0.000978	0	0
KRT14	3861	broad.mit.edu	37	17	39740105	39740105	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39740105C>T	ENST00000167586.6	-	4	920	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	278	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGCTCAGGTCCACGCCAGGTG	0.572000													58	86					0	0	0.003610	0	0
TMEM209	84928	broad.mit.edu	37	7	129832562	129832562	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129832562G>A	ENST00000397622.2	-	6	797	c.675C>T	c.(673-675)gtC>gtT	p.V225V	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Silent_p.V224V|TMEM209_ENST00000473456.1_Silent_p.V225V|TMEM209_ENST00000336804.8_Silent_p.V224V	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	225						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTGAGTTGTAGACGGTAGGTG	0.498000													9	71					0	0	0.004482	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716951	75716951	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:75716951G>A	ENST00000370855.5	-	7	402	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Silent_p.L97L|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	97						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCGTAACAGGTTAAAGTAA	0.428000													23	51					0	0	0.003954	0	0
NUTM2F	54754	broad.mit.edu	37	9	97083470	97083470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:97083470G>A	ENST00000335456.7	-	4	907	c.887C>T	c.(886-888)tCg>tTg	p.S296L	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S296L|NUTM2F_ENST00000253262.4_Missense_Mutation_p.S296L					NUT family member 2F																		CATCCACTGCGATTTCTGAAT	0.642000													5	3					0	0	0.001168	0	0
SPATC1	375686	broad.mit.edu	37	8	145094954	145094954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145094954G>A	ENST00000377470.3	+	2	458	c.356G>A	c.(355-357)gGc>gAc	p.G119D	SPATC1_ENST00000447830.2_Missense_Mutation_p.G119D	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	119										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTGACAGGCACCCTCAGC	0.647000													11	26					0	0	0.000673	0	0
ZNF599	148103	broad.mit.edu	37	19	35250816	35250816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35250816G>A	ENST00000329285.7	-	4	1263	c.890C>T	c.(889-891)tCt>tTt	p.S297F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGGATAAAAGAAGAGCGGTG	0.438000													53	44					0	0	0.003610	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450200	105450200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:105450200G>A	ENST00000337685.2	+	5	1560	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E259K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E259K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	259										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAAGAGAGCGAGGATACCTG	0.453000													7	4					0	0	0.003080	0	0
EVPL	2125	broad.mit.edu	37	17	74014603	74014603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74014603C>T	ENST00000301607.3	-	12	1616	c.1363G>A	c.(1363-1365)Ggg>Agg	p.G455R	EVPL_ENST00000586740.1_Missense_Mutation_p.G455R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	455	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGGTCTCCCCGCCAGGGCCC	0.647000													19	14					0	0	0.002299	0	0
BSN	8927	broad.mit.edu	37	3	49694051	49694051	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49694051C>T	ENST00000296452.4	+	5	7176	c.7062C>T	c.(7060-7062)ttC>ttT	p.F2354F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2354					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)		GGCCAGGGTTCGAGAAAGAGG	0.652000													6	4					0	0	0.003080	0	0
FAM183A	440585	broad.mit.edu	37	1	43613734	43613734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43613734C>T	ENST00000335282.4	+	1	112	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Intron	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	38										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CACGCAGTATCACGTGAATCC	0.612000													10	18					0	0	0.001368	0	0
OAS3	4940	broad.mit.edu	37	12	113384623	113384623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:113384623G>A	ENST00000228928.7	+	4	891	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	238	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCGCCTGGGAGCAGGGCTG	0.592000													16	1					0	0	0.003163	0	0
TMEM45A	55076	broad.mit.edu	37	3	100275807	100275807	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:100275807T>C	ENST00000403410.1	+	5	1062	c.442T>C	c.(442-444)Ttt>Ctt	p.F148L	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.F132L			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	132						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAATGCCTTATTTGTGGAGGG	0.383000													68	53					0	0	0.003610	0	0
PLOD3	8985	broad.mit.edu	37	7	100855845	100855845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100855845G>A	ENST00000223127.3	-	9	1369	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	324					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGTCGGGGGGATAGTCCAG	0.607000													92	6					0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517566	173517566	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:173517566T>C	ENST00000367714.3	-	12	1845	c.1423A>G	c.(1423-1425)Acc>Gcc	p.T475A	SLC9C2_ENST00000536496.1_Missense_Mutation_p.T373A|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	475					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCTACTAAGGTCCAGTTAACA	0.363000													50	17					0	0	0.003610	0	0
GALNT15	117248	broad.mit.edu	37	3	16237312	16237312	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16237312C>T	ENST00000339732.5	+	2	1088	c.585C>T	c.(583-585)gtC>gtT	p.V195V	GALNT15_ENST00000437509.1_Silent_p.V195V	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CAGCCAGCGTCATCCTCTGTT	0.592000													14	38					0	0	0.004990	0	0
FFAR1	2864	broad.mit.edu	37	19	35842894	35842894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35842894C>T	ENST00000246553.2	+	1	450	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	147					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTGGAGGCTCCAGGAGGCTGG	0.672000													29	22					0	0	0.002096	0	0
GFM1	85476	broad.mit.edu	37	3	158363443	158363443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:158363443C>T	ENST00000486715.1	+	2	464	c.107C>T	c.(106-108)tCt>tTt	p.S36F	GFM1_ENST00000264263.5_Missense_Mutation_p.S36F|GFM1_ENST00000478576.1_Missense_Mutation_p.S36F	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	36					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCCGATGGTCTTCATCAGGG	0.373000													16	37					0	0	0.006122	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	13					0	0	0.001786	0	0
PCNX	22990	broad.mit.edu	37	14	71543007	71543007	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71543007C>T	ENST00000304743.2	+	28	5654	c.5208C>T	c.(5206-5208)gtC>gtT	p.V1736V	PCNX_ENST00000439984.3_Silent_p.V1625V|PCNX_ENST00000238570.5_Silent_p.V1664V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1736						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAATTATGTCGATGTGGACC	0.448000													28	21					0	0	0.007291	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985654	142985654	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142985654T>A	ENST00000316549.6	-	16	2036	c.1828A>T	c.(1828-1830)Aaa>Taa	p.K610*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	610					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGTGAAGCTTTCTGGTCCAGA	0.512000													45	52					0	0	0.003610	0	0
ELL	8178	broad.mit.edu	37	19	18572430	18572430	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18572430C>T	ENST00000262809.4	-	5	773	c.702G>A	c.(700-702)ctG>ctA	p.L234L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	234					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CCGCCTGCGTCAGGCCGTCCT	0.657000			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	28					0	0	0.004482	0	0
AKAP13	11214	broad.mit.edu	37	15	86205668	86205668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:86205668G>A	ENST00000361243.2	+	12	4876	c.4795G>A	c.(4795-4797)Gac>Aac	p.D1599N	AKAP13_ENST00000394518.2_Intron|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_Intron	NM_006738.4	NP_006729.4	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1596					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCTGAGTGCTGACTTTAATTA	0.478000													15	186					0	0	0.004990	0	0
AKR1B15	441282	broad.mit.edu	37	7	134252964	134252964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:134252964C>T	ENST00000457545.2	+	4	465	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41C	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGCAGAATATCGCCACATTGA	0.438000													33	88					0	0	0.002445	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945102	34945102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:34945102G>A	ENST00000382021.2	+	8	1341	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E372K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E372K	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	372	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAATTCTGAGGAAGAAATGGA	0.333000													67	26					0	0	0.003610	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000													14	15					0	0	0.004007	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162567	33162567	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:33162567G>A	ENST00000510327.1	-	0	346																											TTCGTACCAAGACCCTGGTGA	0.527000													26	12					0	0	0.001786	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543368	46543368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:46543368G>A	ENST00000242848.4	-	14	3659	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1104L|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P60L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1104							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cacagGCGGTGGAGGAGGAAG	0.557000													8	26					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55583058	55583058	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55583058C>T	ENST00000361849.3	-	34	4828	c.4434G>A	c.(4432-4434)agG>agA	p.R1478R	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R1453R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.R1473R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.R1476R|PCDH15_ENST00000395432.2_Silent_p.R1436R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R1407R	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1476					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATGTTTCCTGTCTTCTG	0.383000										HNSCC(58;0.16)			41	32					0	0	0.003610	0	0
LTA	4049	broad.mit.edu	37	6	31541214	31541214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31541214C>T	ENST00000454783.1	+	4	620	c.362C>T	c.(361-363)tCt>tTt	p.S121F	LTA_ENST00000418386.2_Missense_Mutation_p.S121F	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	121					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AAAGCCTACTCTCCCAAGGCC	0.572000													93	64					0	0	0.003610	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327564	28327564	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28327564C>T	ENST00000377255.3	+	3	498	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ZKSCAN3_ENST00000252211.2_Silent_p.L67L|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	67	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGAGTCGGCTCCGAGAGCTCT	0.667000													14	85					0	0	0.003163	0	0
HLX	3142	broad.mit.edu	37	1	221054566	221054566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:221054566C>T	ENST00000366903.6	+	2	2124	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	208					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGTGGGCGGCCCGCCGGGGTG	0.582000													58	53					0	0	0.003610	0	0
ZNF217	7764	broad.mit.edu	37	20	52192387	52192387	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:52192387G>A	ENST00000371471.2	-	4	3341	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	ZNF217_ENST00000302342.3_Silent_p.F972F			O75362	ZN217_HUMAN	zinc finger protein 217	972					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)			TGGAGCTCAGGAACCTTGGTT	0.552000													12	76					0	0	0.001368	0	0
EML3	256364	broad.mit.edu	37	11	62373192	62373192	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62373192G>T	ENST00000394773.2	-	15	2143	c.1836C>A	c.(1834-1836)ttC>ttA	p.F612L	EML3_ENST00000529309.1_Missense_Mutation_p.F612L|EML3_ENST00000494176.2_Missense_Mutation_p.F584L|EML3_ENST00000531557.1_Missense_Mutation_p.F395L|EML3_ENST00000278845.4_Missense_Mutation_p.F613L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	612						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CGCAGGTGAGGAAGCGGTTCT	0.642000													12	21					6.40141e-05	0.000103016	0.000978	1	0
FGA	2243	broad.mit.edu	37	4	155507767	155507767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:155507767C>T	ENST00000302053.3	-	5	892	c.814G>A	c.(814-816)Gga>Aga	p.G272R	FGA_ENST00000403106.3_Missense_Mutation_p.G272R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	272					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGGAGCCTCCTCGAGTAATC	0.542000													29	105					0	0	0.006320	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003559	52003559	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52003559C>T	ENST00000315877.10	-	6	1203	c.510G>A	c.(508-510)ctG>ctA	p.L170L	ABHD14B_ENST00000395008.2_Silent_p.L172L|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000483233.1_Silent_p.L172L|ABHD14B_ENST00000525795.1_Silent_p.L172L|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000361143.5_Silent_p.L172L|RP11-155D18.12_ENST00000488257.1_RNA			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	172						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GCAGCTGCTTCAGGTGCTCAA	0.592000													31	84					0	0	0.005524	0	0
FCGBP	8857	broad.mit.edu	37	19	40363962	40363962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40363962C>T	ENST00000221347.6	-	31	14687	c.14680G>A	c.(14680-14682)Gac>Aac	p.D4894N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4894	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGGAAAAGTCCTCGTCCCCA	0.582000													10	47					0	0	0.006214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521678	125521678	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:125521678C>T	ENST00000431078.1	+	16	2848	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	828	Laminin G-like 3.				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)		CCGGAGTTTTCCTAGAAAATC	0.363000													22	71					0	0	0.003330	0	0
RYBP	23429	broad.mit.edu	37	3	72427681	72427681	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:72427681G>A	ENST00000477973.1	-	4	806	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGAGGATGTCGATGAGGAGCG	0.547000													8	24					0	0	0.004482	0	0
PIGT	51604	broad.mit.edu	37	20	44052929	44052929	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:44052929C>T	ENST00000279036.6	+	10	1388	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	PIGT_ENST00000545755.1_Silent_p.A174A|PIGT_ENST00000279035.9_Silent_p.A334A|PIGT_ENST00000372689.5_Silent_p.A369A|PIGT_ENST00000341555.5_Silent_p.A242A|PIGT_ENST00000543458.2_Silent_p.A380A|PIGT_ENST00000535404.1_Silent_p.A281A	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	436					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGCTGCCGGCCAACTCAGTCA	0.582000													30	55					0	0	0.001512	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421216	37421216	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37421216A>T	ENST00000374660.1	+	4	490	c.391A>T	c.(391-393)Att>Ttt	p.I131F	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I131F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I131F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	187						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGTGAGCAAATTGTGGAATT	0.289000													36	37					0	0	0.003610	0	0
MAML3	55534	broad.mit.edu	37	4	140811508	140811508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:140811508G>A	ENST00000509479.2	-	2	1938	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	MAML3_ENST00000327122.5_Missense_Mutation_p.P205L	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	361					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGAGTGAGAGGGGTCGCTCTT	0.552000													12	50					0	0	0.001368	0	0
MIR517A	574479	broad.mit.edu	37	19	54215537	54215537	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54215537C>T	ENST00000385001.1	+	0	16					NR_030201.1																						GGCAGTGACCCTCTAGATGGA	0.488000													25	55					0	0	0.003954	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335829	20335829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:20335829G>A	ENST00000377252.3	+	3	1197	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATATCTCGAATATATGGT	0.333000													34	21					0	0	0.006230	0	0
TENM2	57451	broad.mit.edu	37	5	167420138	167420138	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167420138C>T	ENST00000519204.1	+	4	892	c.774C>T	c.(772-774)tcC>tcT	p.S258S	TENM2_ENST00000518659.1_Silent_p.S379S|TENM2_ENST00000520394.1_Silent_p.S188S|TENM2_ENST00000403607.2_Silent_p.S212S|TENM2_ENST00000545108.1_Silent_p.S379S					teneurin transmembrane protein 2									p.S212S(1)|p.S379S(1)|p.S258S(1)									CTGCCCTCTCCGCCATTGCCG	0.572000													10	81					0	0	0.000978	0	0
MCPH1	79648	broad.mit.edu	37	8	6338320	6338320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:6338320C>T	ENST00000344683.5	+	11	2135	c.2059C>T	c.(2059-2061)Ctt>Ttt	p.L687F		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	687	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GACTCACGTGCTTTCCGGGAA	0.522000													16	12					0	0	0.004990	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718802	108718802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:108718802C>T	ENST00000218006.2	-	2	655	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	122					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAATAAATCCTGAGGCCATC	0.478000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	116	118					0	0	0.003610	0	0
RANBP17	64901	broad.mit.edu	37	5	170667972	170667972	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:170667972G>A	ENST00000523189.1	+	23	2627	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	821					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAAGATCAGATTTATCCAA	0.413000			T	TRD@	ALL								22	158					0	0	0.002299	0	0
ECH1	1891	broad.mit.edu	37	19	39306353	39306353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39306353G>A	ENST00000221418.4	-	10	1119	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CATGTTCCAGGACGCCTGGTA	0.557000													11	26					0	0	0.001368	0	0
M1AP	130951	broad.mit.edu	37	2	74842118	74842118	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74842118C>T	ENST00000290536.5	-	3	515	c.399G>A	c.(397-399)agG>agA	p.R133R	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.R133R|M1AP_ENST00000536235.1_Silent_p.R133R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TCAGAGCTGCCCTTGTGGTCA	0.488000													19	53					0	0	0.001216	0	0
MYH4	4622	broad.mit.edu	37	17	10354127	10354127	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10354127T>A	ENST00000255381.2	-	29	4061	c.3951A>T	c.(3949-3951)gaA>gaT	p.E1317D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1317					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTTAATTCTTCAATCTGTT	0.403000													25	61					0	0	0.004656	0	0
TSKS	60385	broad.mit.edu	37	19	50249871	50249871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50249871G>A	ENST00000246801.3	-	6	930	c.848C>T	c.(847-849)cCc>cTc	p.P283L	TSKS_ENST00000358830.3_Missense_Mutation_p.P83L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	283							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGGCGGGCCGGGGCAGCCCTG	0.741000													7	21					0	0	0.001984	0	0
SOX5	6660	broad.mit.edu	37	12	24048856	24048856	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24048856G>A	ENST00000546136.1	-	1	104	c.102C>T	c.(100-102)ctC>ctT	p.L34L	SOX5_ENST00000451604.2_Silent_p.L47L|SOX5_ENST00000545921.1_Silent_p.L37L|SOX5_ENST00000381381.2_Silent_p.L34L|SOX5_ENST00000541847.1_Silent_p.L37L|SOX5_ENST00000309359.1_Silent_p.L34L|SOX5_ENST00000541536.1_Silent_p.L34L|SOX5_ENST00000441133.2_Silent_p.L47L|SOX5_ENST00000537393.1_Silent_p.L47L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	47					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAAAGGCTGGGAGCCCGTCAC	0.527000													27	129					0	0	0.003954	0	0
TRPC5	7224	broad.mit.edu	37	X	111195330	111195330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:111195330C>T	ENST00000262839.2	-	2	1237	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	107					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCACCACTTCCTTGCGTATG	0.537000													94	10					0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32841341	32841341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32841341C>T	ENST00000380250.3	+	55	8477	c.7981C>T	c.(7981-7983)Ccc>Tcc	p.P2661S	FRY_ENST00000542859.1_Missense_Mutation_p.P31S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCCCCCTCCCTCGCCCTT	0.527000													27	53					0	0	0.001512	0	0
DNAH2	146754	broad.mit.edu	37	17	7701533	7701533	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7701533C>T	ENST00000572933.1	+	54	9749	c.8289C>T	c.(8287-8289)atC>atT	p.I2763I	DNAH2_ENST00000389173.2_Silent_p.I2763I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2763	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGTGGGTATCGGGGGCAGCG	0.607000													19	57					0	0	0.001216	0	0
HBEGF	1839	broad.mit.edu	37	5	139722387	139722387	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139722387G>A	ENST00000230990.6	-	3	533	c.231C>T	c.(229-231)tcC>tcT	p.S77S	HBEGF_ENST00000507104.1_Silent_p.S77S	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	77					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTTGGAGGATAAAGTGA	0.458000													163	213					0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:103338393G>A	ENST00000424685.2	-	10	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_ENST00000343529.5_Silent_p.I350I|RELN_ENST00000428762.1_Silent_p.I350I			P78509	RELN_HUMAN	reelin	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000													94	62					0	0	0.003610	0	0
ANO4	121601	broad.mit.edu	37	12	101520688	101520688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:101520688C>T	ENST00000392979.3	+	26	2964	c.2603C>T	c.(2602-2604)tCa>tTa	p.S868L	ANO4_ENST00000550015.1_Missense_Mutation_p.S423L|ANO4_ENST00000299222.9_Missense_Mutation_p.S423L|ANO4_ENST00000392977.3_Missense_Mutation_p.S903L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	903						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCTCATTTCATATCTGATC	0.443000										HNSCC(74;0.22)			21	5					0	0	0.002299	0	0
WDR33	55339	broad.mit.edu	37	2	128466316	128466316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128466316G>A	ENST00000322313.4	-	21	3874	c.3716C>T	c.(3715-3717)cCa>cTa	p.P1239L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1239					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGAAGTGCCTGGGCCATCATG	0.597000													18	74					0	0	0.001523	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203063	140203063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140203063G>A	ENST00000529859.1	+	1	1703	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R568Q|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R568Q|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCCTCGAGTGGGTGGC	0.721000													17	77					0	0	0.006122	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849570	102849570	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102849570C>T	ENST00000445873.1	-	3	1369	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	31																	CTGCCCCCTCCCCAGGCCCCA	0.657000													5	8					0	0	0.000602	0	0
EGFR	1956	broad.mit.edu	37	7	55240814	55240814	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:55240814G>A	ENST00000275493.2	+	17	2235	c.2058G>A	c.(2056-2058)agG>agA	p.R686R	EGFR_ENST00000454757.2_Silent_p.R633R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.R641R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	686					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAGGAGAGGGAGGTGAGTG	0.647000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			43	33					0	0	0.003610	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743657	148743657	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148743657C>T	ENST00000514349.1	+	2	663	c.84C>T	c.(82-84)ttC>ttT	p.F28F	PCYOX1L_ENST00000274569.4_Silent_p.F118F			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	118					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCACTTCATGCTGGAGG	0.627000													30	36					0	0	0.001786	0	0
LGALS2	3957	broad.mit.edu	37	22	37966292	37966292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:37966292G>A	ENST00000215886.4	-	4	551	c.377C>T	c.(376-378)tCc>tTc	p.S126F		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	126	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CTTGAAAGAGGACATGTTGAA	0.517000													90	6					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076840	9076840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9076840G>A	ENST00000397910.4	-	3	10809	c.10606C>T	c.(10606-10608)Cca>Tca	p.P3536S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATACCTGGAGTAGGAGCT	0.532000													96	44					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61835032	61835032	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61835032G>A	ENST00000280772.1	-	37	5798	c.5607C>T	c.(5605-5607)ttC>ttT	p.F1869F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1869	Ser-rich.				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						AAGTTCGACTGAAGTGAGGCT	0.418000													25	61					0	0	0.004656	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:14542672G>A	ENST00000358970.5	-	1	473	c.474C>T	c.(472-474)atC>atT	p.I158I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000													37	74					0	0	0.007835	0	0
LTBP3	4054	broad.mit.edu	37	11	65313968	65313968	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65313968G>A	ENST00000301873.5	-	16	2566	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.F196F|LTBP3_ENST00000322147.4_Silent_p.F766F|LTBP3_ENST00000536982.1_Silent_p.F392F	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	766	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGTGCAGCGGAAGGAGCCCG	0.746000													16	8					0	0	0.006122	0	0
TCP11L2	255394	broad.mit.edu	37	12	106715470	106715470	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:106715470C>T	ENST00000546625.1	+	5	780	c.621C>T	c.(619-621)atC>atT	p.I207I	TCP11L2_ENST00000547153.1_Silent_p.I207I|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Silent_p.I207I			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	207										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTGGCAACATCGTGGAGGTGC	0.463000													56	9					0	0	0.003610	0	0
MPL	4352	broad.mit.edu	37	1	43818335	43818335	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43818335G>A	ENST00000372470.3	+	12	1842	c.1800G>A	c.(1798-1800)ggG>ggA	p.G600G		NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	600					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTGCCTGGGGACCATGCCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						13	24					0	0	0.002450	0	0
GABRR3	200959	broad.mit.edu	37	3	97711711	97711711	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97711711G>A	ENST00000472788.1	-	0	1090					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CTGTCTTCTTGAATTGTTTCC	0.473000													48	142					0	0	0.003610	0	0
THRAP3	9967	broad.mit.edu	37	1	36754862	36754862	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36754862C>T	ENST00000354618.5	+	5	1466	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	THRAP3_ENST00000469141.2_Silent_p.L414L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	414					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATAAGCTCCGAGATGACT	0.438000			T	USP6	aneurysmal bone cysts								20	34					0	0	0.001216	0	0
F2	2147	broad.mit.edu	37	11	46747445	46747445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:46747445C>T	ENST00000311907.5	+	7	652	c.596C>T	c.(595-597)tCc>tTc	p.S199F	F2_ENST00000530231.1_Missense_Mutation_p.S199F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	199		Cleavage; by thrombin.			activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACTCCACGCTCCGAAGGCTCC	0.612000													47	7					0	0	0.003610	0	0
BMP3	651	broad.mit.edu	37	4	81967643	81967643	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:81967643G>A	ENST00000282701.2	+	2	1388	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	356					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCAGACCCTGAAAAAGGCAA	0.478000													15	24					0	0	0.002450	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927894	13927894	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13927894C>T	ENST00000602743.1	-	0	224																											GAGTGAGAGCCTTTTCTGACG	0.567000													7	16					0	0	0.002450	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805795	50805795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:50805795C>T	ENST00000263046.4	+	6	1122	c.956C>T	c.(955-957)tCc>tTc	p.S319F	TFAP2B_ENST00000393655.3_Missense_Mutation_p.S310F			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	310					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTACTCACCTCCCTGGTGGAA	0.483000													21	60					0	0	0.001523	0	0
TATDN3	128387	broad.mit.edu	37	1	212988386	212988386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:212988386C>T	ENST00000366974.4	+	10	807	c.713C>T	c.(712-714)tCa>tTa	p.S238L	TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.S245L|TATDN3_ENST00000366973.4_Missense_Mutation_p.S237L|TATDN3_ENST00000526641.1_Missense_Mutation_p.S217L|TATDN3_ENST00000526997.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	238						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		ATTTCTATTTCAGCAGAATAT	0.433000													46	134					0	0	0.002522	0	0
CDH23	64072	broad.mit.edu	37	10	73550937	73550937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73550937C>T	ENST00000224721.6	+	46	6118	c.6113C>T	c.(6112-6114)tCg>tTg	p.S2038L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2033	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAGGCATTCTCGCCACCCATC	0.622000													4	13					0	0	0.000248	0	0
COL11A1	1301	broad.mit.edu	37	1	103352475	103352475	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:103352475G>A	ENST00000358392.2	-	63	5099	c.4782C>T	c.(4780-4782)tcC>tcT	p.S1594S	COL11A1_ENST00000353414.4_Silent_p.S1543S|COL11A1_ENST00000370096.3_Silent_p.S1582S|COL11A1_ENST00000512756.1_Silent_p.S1466S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1582	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGAATTGAGGGAACCAAATA	0.418000													23	47					0	0	0.002780	0	0
ASH1L	55870	broad.mit.edu	37	1	155451426	155451426	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:155451426G>T	ENST00000368346.3	-	3	1874	c.1235C>A	c.(1234-1236)cCt>cAt	p.P412H	ASH1L_ENST00000392403.3_Missense_Mutation_p.P412H|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	412					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCTGCCAAAGGACAACTCAT	0.438000													18	87					5.3912e-06	8.69903e-06	0.006122	1	0
SKAP1	8631	broad.mit.edu	37	17	46265269	46265269	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46265269C>T	ENST00000336915.6	-	6	447	c.378G>A	c.(376-378)tcG>tcA	p.S126S	SKAP1_ENST00000584924.1_Silent_p.S126S|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	126	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTGCCACTCCGATCCAAAGA	0.413000													17	26					0	0	0.007413	0	0
LAMB3	3914	broad.mit.edu	37	1	209788715	209788715	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:209788715G>A	ENST00000391911.1	-	22	3809	c.3420C>T	c.(3418-3420)atC>atT	p.I1140I	LAMB3_ENST00000367030.3_Silent_p.I1140I|LAMB3_ENST00000356082.4_Silent_p.I1140I	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1140	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCGCAGCATGATGGCCTGGC	0.587000													51	32					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107688391	107688391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107688391G>A	ENST00000388781.3	-	28	4371	c.4288C>T	c.(4288-4290)Cgt>Tgt	p.R1430C	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1430C|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1430C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1430	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCAAATTACGAATAATGGAT	0.448000													128	17					0	0	0.003610	0	0
USP6	9098	broad.mit.edu	37	17	5076112	5076112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5076112G>A	ENST00000574788.1	+	38	6290	c.4060G>A	c.(4060-4062)Gat>Aat	p.D1354N	USP6_ENST00000304328.5_Missense_Mutation_p.D1037N|USP6_ENST00000250066.6_Missense_Mutation_p.D1354N|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1354					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTTCACCCTGATGAAATTGA	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								24	93					0	0	0.005443	0	0
SCAND3	114821	broad.mit.edu	37	6	28543719	28543719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28543719C>T	ENST00000452236.2	-	3	1380	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	255					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTTTCACTTCCTTTATCAAC	0.353000													21	117					0	0	0.001216	0	0
FAM188B	84182	broad.mit.edu	37	7	30825437	30825437	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:30825437C>T	ENST00000265299.6	+	4	569	c.492C>T	c.(490-492)ccC>ccT	p.P164P	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	164										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGTAAGCCCATGCAGACGG	0.448000													36	118					0	0	0.003271	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206973	29206973	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29206973G>A	ENST00000306851.5	-	7	1184	c.888C>T	c.(886-888)gaC>gaT	p.D296D	B4GALT6_ENST00000237019.7_Silent_p.D257D|B4GALT6_ENST00000383131.3_Silent_p.D257D	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	296					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGTTCCAAAGGTCATCATCTT	0.348000													12	51					0	0	0.002450	0	0
C9orf41	138199	broad.mit.edu	37	9	77613660	77613660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77613660G>A	ENST00000376834.3	-	5	916	c.764C>T	c.(763-765)cCt>cTt	p.P255L	C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	255								p.P255L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ATGGATCCAAGGATAAAGTTT	0.348000													13	18					0	0	0.002450	0	0
OBSCN	84033	broad.mit.edu	37	1	228556502	228556502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228556502C>T	ENST00000570156.2	+	100	22792	c.22718C>T	c.(22717-22719)cCa>cTa	p.P7573L	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4250L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6616L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6616	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AACATCACCCCAGCAGAGCTG	0.562000													38	170					0	0	0.005524	0	0
ALK	238	broad.mit.edu	37	2	29917858	29917858	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29917858G>A	ENST00000389048.3	-	3	1716	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	270	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTCACAGGGGAAGTCAAAGC	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	65					0	0	0.002299	0	0
SPTA1	6708	broad.mit.edu	37	1	158584062	158584062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158584062C>T	ENST00000368148.3	-	49	7003	c.6823G>A	c.(6823-6825)Gaa>Aaa	p.E2275K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2272K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2275	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGCTAAATTCCTTTAGAGTC	0.328000													47	19					0	0	0.003610	0	0
MXRA8	54587	broad.mit.edu	37	1	1289285	1289285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1289285C>T	ENST00000309212.6	-	9	1276	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	MXRA8_ENST00000342753.4_Missense_Mutation_p.E315K|MXRA8_ENST00000445648.2_Missense_Mutation_p.E422K	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	416						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-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;0.145)		TCCGCCCTCTCCTTCAGGATG	0.647000													11	9					0	0	0.001855	0	0
ADCY8	114	broad.mit.edu	37	8	132051766	132051766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:132051766C>T	ENST00000286355.5	-	1	2906	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G272S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	272					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCACGTAGCCTATGCCGTCG	0.667000										HNSCC(32;0.087)			7	23					0	0	0.001984	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772572	140772572	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140772572C>T	ENST00000398604.2	+	1	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGGAGTCCGTATCGTCT	0.612000													45	21					0	0	0.003610	0	0
ABCA9	10350	broad.mit.edu	37	17	66982341	66982341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66982341C>T	ENST00000340001.4	-	32	4383	c.4172G>A	c.(4171-4173)gGt>gAt	p.G1391D	ABCA9_ENST00000370732.2_Missense_Mutation_p.G1391D|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1353D	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1391	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTCCTGAGACCTTTCACGGC	0.587000													18	81					0	0	0.007413	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970020	161970020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161970020G>A	ENST00000294794.3	-	5	1255	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P279S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCTGCAGGGGCCGCTGTGAC	0.602000													53	23					0	0	0.003610	0	0
IMMT	10989	broad.mit.edu	37	2	86400787	86400787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:86400787G>A	ENST00000410111.3	-	4	794	c.407C>T	c.(406-408)cCa>cTa	p.P136L	IMMT_ENST00000254636.5_Missense_Mutation_p.P49L|IMMT_ENST00000409051.2_Missense_Mutation_p.P136L|IMMT_ENST00000442664.2_Missense_Mutation_p.P136L|IMMT_ENST00000449247.2_Missense_Mutation_p.P136L	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	136						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGAAGCTGGAGTATCTCC	0.348000													13	10					0	0	0.001368	0	0
DHX29	54505	broad.mit.edu	37	5	54566508	54566508	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54566508G>T	ENST00000251636.5	-	19	3039	c.2891C>A	c.(2890-2892)tCt>tAt	p.S964Y	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	964	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTCCACCAAAGAACTCATCTG	0.428000													11	60					6.40141e-05	0.000103016	0.000978	1	0
MYH1	4619	broad.mit.edu	37	17	10415820	10415820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10415820G>A	ENST00000226207.5	-	12	1146	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	351	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTATAGATGGACACTCTTTC	0.438000													17	65					0	0	0.004990	0	0
AARD	441376	broad.mit.edu	37	8	117950577	117950577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:117950577C>T	ENST00000378279.3	+	1	140	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	32																	CCACCTCGTCCCGCGTGCGAC	0.692000													11	14					0	0	0.001368	0	0
ITPKC	80271	broad.mit.edu	37	19	41235203	41235203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41235203C>T	ENST00000263370.2	+	3	1385	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	451						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGCTGCGACCTTTCGTGCCT	0.562000													17	35					0	0	0.001523	0	0
SCN5A	6331	broad.mit.edu	37	3	38620875	38620875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38620875C>T	ENST00000413689.1	-	18	3533	c.3340G>A	c.(3340-3342)Gac>Aac	p.D1114N	SCN5A_ENST00000414099.2_Missense_Mutation_p.D1114N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1114N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1113N|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1113N|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1113N|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1114N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1114			D -> N (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCCGCCAGTCGGCCTGAGAT	0.677000													8	5					0	0	0.003080	0	0
FAM13C	220965	broad.mit.edu	37	10	61029849	61029849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61029849C>T	ENST00000373867.3	-	8	829	c.364G>A	c.(364-366)Gat>Aat	p.D122N	FAM13C_ENST00000373868.2_Missense_Mutation_p.D205N|FAM13C_ENST00000419214.2_Missense_Mutation_p.D205N|FAM13C_ENST00000435852.2_Missense_Mutation_p.D205N|FAM13C_ENST00000277705.6_Missense_Mutation_p.D226N|FAM13C_ENST00000468840.2_Missense_Mutation_p.D122N|FAM13C_ENST00000422313.2_Missense_Mutation_p.D205N|FAM13C_ENST00000442566.3_Missense_Mutation_p.D226N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	205										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTGCCCATCTTTGTGGACT	0.493000													31	19					0	0	0.004878	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4475533	4475533	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4475533C>T	ENST00000301284.4	+	3	305	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	HDGFRP2_ENST00000586684.1_Silent_p.L81L	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		81					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CAATGAAGGGCTGTGGGAGAT	0.577000													5	44					0	0	0.000602	0	0
TTLL2	83887	broad.mit.edu	37	6	167754894	167754894	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:167754894G>A	ENST00000239587.5	+	3	1594	c.1506G>A	c.(1504-1506)agG>agA	p.R502R		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	502					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTCAACAAGGGAGATGCCAC	0.562000													22	12					0	0	0.002299	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561547	32561547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:32561547C>T	ENST00000345122.3	+	2	1987	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L558F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L558F|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L558F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	558					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAACATGTCTTAGTGGCCA	0.368000													33	23					0	0	0.006230	0	0
NLRP9	338321	broad.mit.edu	37	19	56249719	56249719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56249719C>T	ENST00000332836.2	-	1	49	c.22G>A	c.(22-24)Gat>Aat	p.D8N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	8	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGCCAAAATCCGAAAAAAAA	0.403000													33	100					0	0	0.004289	0	0
CLTC	1213	broad.mit.edu	37	17	57738836	57738836	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:57738836G>A	ENST00000269122.3	+	8	1474	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	CLTC_ENST00000393043.1_Silent_p.R400R|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	400	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTATCCGTCGGTTCCAGAGTG	0.448000			T	"""ALK, TFE3"""	"""ALCL, renal """								48	92					0	0	0.003610	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619681	28619681	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28619681G>A	ENST00000395609.1	-	6	1061	c.303C>T	c.(301-303)gcC>gcT	p.A101A	SULT1A1_ENST00000395607.1_Silent_p.A101A|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.A101A|SULT1A1_ENST00000569554.1_Silent_p.A101A			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGAGTCGTGGGGCCGGTGTGT	0.597000													33	76					0	0	0.004878	0	0
ACVRL1	94	broad.mit.edu	37	12	52309926	52309926	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52309926C>T	ENST00000550683.1	+	7	1298	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	ACVRL1_ENST00000419526.2_Silent_p.I211I|ACVRL1_ENST00000388922.4_Silent_p.I385I	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	385	Protein kinase.		W -> S (in HHT2; dbSNP:rs28936402).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ACGAGCAGATCCGCACGGACT	0.607000													56	24					0	0	0.003610	0	0
KY	339855	broad.mit.edu	37	3	134323202	134323202	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:134323202A>G	ENST00000508956.1	-	10	1199	c.1142T>C	c.(1141-1143)tTg>tCg	p.L381S	KY_ENST00000423778.2_Missense_Mutation_p.L402S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	402						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GTACACCTCCAACTTCATCCC	0.547000													19	59					0	0	0.007413	0	0
TRANK1	9881	broad.mit.edu	37	3	36873994	36873994	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36873994C>T	ENST00000301807.6	-	21	7195	c.5298G>A	c.(5296-5298)agG>agA	p.R1766R	TRANK1_ENST00000428977.2_Silent_p.R1766R|TRANK1_ENST00000429976.2_Silent_p.R2316R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2316					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGAGTTCCCTGTTGTAGT	0.512000													39	48					0	0	0.001951	0	0
NRG1	3084	broad.mit.edu	37	8	32617769	32617769	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:32617769C>T	ENST00000338921.4	+	12	1654	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	NRG1_ENST00000539990.1_Silent_p.I214I|NRG1_ENST00000287842.3_Silent_p.I368I|NRG1_ENST00000523079.1_Silent_p.I368I|NRG1_ENST00000521670.1_Silent_p.I371I|NRG1_ENST00000356819.4_Silent_p.I376I|NRG1_ENST00000405005.2_Silent_p.I371I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.I371I|NRG1_ENST00000519301.1_Silent_p.I321I|NRG1_ENST00000287845.5_Silent_p.I342I			Q02297	NRG1_HUMAN	neuregulin 1	371					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTCTGTAATCGTGATGTCAT	0.498000													33	75					0	0	0.002445	0	0
WDR96	80217	broad.mit.edu	37	10	105953682	105953682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105953682C>T	ENST00000357060.3	-	11	1499	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	WDR96_ENST00000369720.1_Missense_Mutation_p.E393K|WDR96_ENST00000428666.1_Missense_Mutation_p.E463K|WDR96_ENST00000278064.2_Missense_Mutation_p.E393K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	462										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGGGGATTCCTTATCATAT	0.567000													17	51					0	0	0.004007	0	0
ZMYND10	51364	broad.mit.edu	37	3	50383008	50383008	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:50383008C>T	ENST00000231749.3	-	1	1275	c.3G>A	c.(1-3)atG>atA	p.M1I	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Start_Codon_SNP_p.M1I	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	1						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGGTCTCCCATATCGAGGC	0.682000										TSP Lung(30;0.18)			5	12					0	0	0.000602	0	0
PRRC2B	84726	broad.mit.edu	37	9	134366870	134366870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134366870C>T	ENST00000357304.4	+	28	6339	c.6284C>T	c.(6283-6285)tCt>tTt	p.S2095F	PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1401F|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1401F|PRRC2B_ENST00000372249.1_Missense_Mutation_p.S192F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2095							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGCCCCAGTCTATTCAGCTG	0.642000													18	44					0	0	0.006122	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022405	20022405	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:20022405G>A	ENST00000440926.1	-	11	1460	c.990C>T	c.(988-990)acC>acT	p.T330T	SLC18A1_ENST00000381608.4_Silent_p.T330T|SLC18A1_ENST00000437980.1_Silent_p.T330T|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000276373.5_Silent_p.T330T	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	330					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGGAGCACATGGTCTGCATCA	0.612000													10	9					0	0	0.000978	0	0
GPI	2821	broad.mit.edu	37	19	34890117	34890117	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34890117C>T	ENST00000415930.3	+	15	1478	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	GPI_ENST00000356487.5_Silent_p.L425L|GPI_ENST00000586425.1_Silent_p.L425L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	425				L -> V (in Ref. 2; AAF22645).	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)					ATCAGATCCTCCTGGCCAACT	0.597000													12	14					0	0	0.001855	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887528	131887528	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:131887528G>A	ENST00000359827.3	-	12	3425	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	PLXNA4_ENST00000321063.4_Silent_p.F821F			Q9HCM2	PLXA4_HUMAN	plexin A4	821	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCCACATGCGAAGTCTGGGT	0.637000													28	4					0	0	0.007291	0	0
STARD3	10948	broad.mit.edu	37	17	37817088	37817088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37817088C>T	ENST00000336308.5	+	12	1198	c.980C>T	c.(979-981)aCc>aTc	p.T327I	STARD3_ENST00000394250.4_Missense_Mutation_p.T309I|STARD3_ENST00000580611.1_Missense_Mutation_p.T301I|STARD3_ENST00000544210.2_Missense_Mutation_p.T327I	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	327	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGACAACACCCTCATCTCC	0.632000													41	131					0	0	0.003214	0	0
LRFN5	145581	broad.mit.edu	37	14	42356404	42356404	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:42356404C>T	ENST00000554171.1	+	5	3008	c.576C>T	c.(574-576)tcC>tcT	p.S192S	LRFN5_ENST00000298119.4_Silent_p.S192S|LRFN5_ENST00000554120.1_Silent_p.S192S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	192						integral to membrane		p.S192S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGACCTTCTCCCATTTGCACA	0.438000										HNSCC(30;0.082)			11	21					0	0	0.000978	0	0
MEGF8	1954	broad.mit.edu	37	19	42837848	42837848	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42837848C>T	ENST00000334370.4	+	2	914	c.279C>T	c.(277-279)tcC>tcT	p.S93S	MEGF8_ENST00000251268.6_Silent_p.S93S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	93	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGGTGACTCCCCGCGAGGGC	0.617000													52	26					0	0	0.003610	0	0
GCKR	2646	broad.mit.edu	37	2	27745389	27745389	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27745389C>T	ENST00000264717.2	+	18	1698	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	GCKR_ENST00000424318.2_Silent_p.P355P	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	545					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCCACTTTCCCCAGCCACTGT	0.542000													29	88					0	0	0.007291	0	0
ZNF594	84622	broad.mit.edu	37	17	5086309	5086309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5086309G>A	ENST00000399604.4	-	1	1383	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.Q415*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTGAGCTCTGATTGAAAGTT	0.413000													26	128					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9056574	9056574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9056574G>A	ENST00000397910.4	-	3	31075	c.30872C>T	c.(30871-30873)aCc>aTc	p.T10291I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10293	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCCAGTGGTGGCAAATGA	0.512000													24	55					0	0	0.004656	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110296	37110296	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:37110296C>T	ENST00000430593.3	-	0	364					NR_027320.1																						TTTATATTTCCTTCCGACAAT	0.537000													3	5					0	0	0.004672	0	0
CXorf22	170063	broad.mit.edu	37	X	36007618	36007618	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:36007618G>T	ENST00000297866.5	+	16	2962	c.2896G>T	c.(2896-2898)Ggg>Tgg	p.G966W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	966										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGAATTTGTTGGGTATACACT	0.333000													8	20					3.09899e-07	5.00767e-07	0.004482	1	0
IGHV6-1	28385	broad.mit.edu	37	14	106406096	106406096	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:106406096C>T	ENST00000390593.2	-	0	12																											AGCCAGAATTCAGCAGGCTCT	0.577000													7	4					0	0	0.001984	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263084	232263084	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:232263084G>A	ENST00000287590.5	+	2	915	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	218					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGACCCTCAAGGAGATCCACT	0.577000													38	65					0	0	0.003610	0	0
SPATA21	374955	broad.mit.edu	37	1	16736305	16736305	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16736305G>A	ENST00000335496.1	-	6	860	c.378C>T	c.(376-378)agC>agT	p.S126S	SPATA21_ENST00000540400.1_Silent_p.S103S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	126	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTGAGGCAGGCTTGGAGCTG	0.706000													11	15					0	0	0.001368	0	0
TRPM2	7226	broad.mit.edu	37	21	45861646	45861646	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45861646G>A	ENST00000397928.1	+	32	4903	c.4458G>A	c.(4456-4458)gcG>gcA	p.A1486A	TRPM2_ENST00000397932.2_Silent_p.A1536A|TRPM2_ENST00000300482.5_Silent_p.A1486A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.A1432A	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1486	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACTCTATGCGAACCACAAGA	0.637000													11	31					0	0	0.000673	0	0
CCDC141	285025	broad.mit.edu	37	2	179742691	179742691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179742691C>T	ENST00000409284.1	-	12	2016	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	CCDC141_ENST00000295723.5_Splice_Site_p.M58_splice|CCDC141_ENST00000420890.2_Splice_Site_p.M633_splice			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	58							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTCTTACCATATTTATTA	0.358000													9	29					0	0	0.004482	0	0
CREB3L3	84699	broad.mit.edu	37	19	4153747	4153747	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4153747G>A	ENST00000078445.2	+	1	150	c.3G>A	c.(1-3)atG>atA	p.M1I	CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602257.1_Start_Codon_SNP_p.M1I|CREB3L3_ENST00000595923.1_Start_Codon_SNP_p.M1I|CREB3L3_ENST00000602147.1_Start_Codon_SNP_p.M1I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	1					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGACCCATGAATACGGATT	0.622000													15	5					0	0	0.006122	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984358	77984358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:77984358G>A	ENST00000310924.2	-	3	495	c.380C>T	c.(379-381)cCg>cTg	p.P127L		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	127						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)			CAGCTCCGTCGGGGAGGGCTG	0.701000													7	22					0	0	0.003080	0	0
TET3	200424	broad.mit.edu	37	2	74274974	74274974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74274974C>T	ENST00000409262.3	+	1	1525	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	509							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGGCTCATCCACCGGCCCC	0.642000													6	8					0	0	0.001168	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236460	103236460	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103236460C>T	ENST00000233969.2	+	1	295	c.153C>T	c.(151-153)agC>agT	p.S51S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	51						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCGCCTAGCCCTGCGAGCG	0.677000													8	11					0	0	0.006214	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163016	72163016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:72163016C>T	ENST00000537465.1	-	13	2072	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	PMFBP1_ENST00000237353.10_Missense_Mutation_p.M633I|PMFBP1_ENST00000355636.6_Missense_Mutation_p.M488I			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	638										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTCTCCCTCCATCAGCTTCT	0.493000													100	235					0	0	0.003610	0	0
NOTUM	147111	broad.mit.edu	37	17	79916235	79916235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79916235C>T	ENST00000409678.3	-	5	951	c.568G>A	c.(568-570)Ggg>Agg	p.G190R		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	190						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GATGAAGCCCCGCTCCAAACA	0.647000													6	48					0	0	0.000673	0	0
TRPC6	7225	broad.mit.edu	37	11	101342876	101342876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:101342876C>T	ENST00000344327.3	-	8	2621	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E617K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E678K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E655K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	733					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E733K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTCAATTTCCTGGAATGAA	0.343000													20	83					0	0	0.001882	0	0
OR51E2	81285	broad.mit.edu	37	11	4703487	4703487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4703487G>A	ENST00000396950.3	-	2	694	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAAAAGAGGGATCCGCGGAC	0.542000													38	13					0	0	0.005524	0	0
TGM1	7051	broad.mit.edu	37	14	24731294	24731294	+	Missense_Mutation	SNP	G	G	A	rs146189995		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24731294G>A	ENST00000206765.6	-	2	388	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	89	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GATACAGGCCGGCGGGAGTCT	0.632000													20	86					0	0	0.001216	0	0
FBLN2	2199	broad.mit.edu	37	3	13612990	13612990	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:13612990G>T	ENST00000404922.3	+	2	1254	c.1135G>T	c.(1135-1137)Gac>Tac	p.D379Y	FBLN2_ENST00000535798.1_Missense_Mutation_p.D405Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.D379Y|FBLN2_ENST00000295760.7_Missense_Mutation_p.D379Y	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	379	N.|Subdomain NB (Cys-free).					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)			CTCTCCCAGGGACCCAGTCAA	0.662000													6	15					5.18039e-06	8.36089e-06	0.003080	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36064925	36064925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:36064925G>A	ENST00000258840.6	-	37	6137	c.5747C>T	c.(5746-5748)cCa>cTa	p.P1916L	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1869L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1882L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1869L			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1869	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCAAAATATGGAGTGGTCAA	0.353000													20	51					0	0	0.001216	0	0
BNC1	646	broad.mit.edu	37	15	83936884	83936884	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:83936884C>T	ENST00000345382.2	-	2	285		c.e2+1		RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Splice_Site	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1						epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATAAAGTTACCGTGGGCCAC	0.413000													38	41					0	0	0.002852	0	0
KRT78	196374	broad.mit.edu	37	12	53242527	53242527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53242527C>T	ENST00000304620.4	-	1	251	c.188G>A	c.(187-189)gGg>gAg	p.G63E		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	63	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAACCGCACCCCCAGCCTACC	0.642000													9	13					0	0	0.004482	0	0
ARFIP1	27236	broad.mit.edu	37	4	153809445	153809445	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:153809445C>T	ENST00000451320.2	+	8	1116	c.952C>T	c.(952-954)Cta>Tta	p.L318L	ARFIP1_ENST00000405727.2_Silent_p.L286L|ARFIP1_ENST00000429148.2_Silent_p.L138L|ARFIP1_ENST00000356064.3_Silent_p.L286L|ARFIP1_ENST00000353617.2_Silent_p.L318L			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	318	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATTGAAATTTCTAGAAGAAAA	0.348000													6	17					0	0	0.001168	0	0
PIF1	80119	broad.mit.edu	37	15	65113580	65113580	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65113580C>T	ENST00000268043.4	-	5	1051	c.957G>A	c.(955-957)ctG>ctA	p.L319L	PIF1_ENST00000559239.1_Silent_p.L319L|PIF1_ENST00000333425.6_Silent_p.L319L			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	319	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACGGCCTCCAGTTTGTCAA	0.607000													59	95					0	0	0.003610	0	0
GRHL2	79977	broad.mit.edu	37	8	102661702	102661702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:102661702C>T	ENST00000251808.3	+	14	2011	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	GRHL2_ENST00000395927.1_Missense_Mutation_p.P542L|GRHL2_ENST00000517674.1_Intron	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	558						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGAAGTCTCCCACAGTGAAG	0.522000													4	28					0	0	0.001168	0	0
ITGAX	3687	broad.mit.edu	37	16	31373212	31373212	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31373212C>T	ENST00000268296.4	+	10	1189	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ITGAX_ENST00000562522.1_Silent_p.F356F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	356					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGAGGGCTTCAGCGCTGTGT	0.627000													27	69					0	0	0.006320	0	0
ANK3	288	broad.mit.edu	37	10	61932885	61932885	+	Silent	SNP	G	G	A	rs150715672		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61932885G>A	ENST00000280772.1	-	19	2435	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	ANK3_ENST00000503366.1_Silent_p.F731F|ANK3_ENST00000373827.2_Silent_p.F742F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	748					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.F748F(1)		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						GCTGGAGCAGGAAATTAACAA	0.338000													19	10					0	0	0.001882	0	0
OR51I1	390063	broad.mit.edu	37	11	5462354	5462354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:5462354G>A	ENST00000380211.1	-	1	390	c.391C>T	c.(391-393)Cca>Tca	p.P131S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCGTAATGGATAACAAATA	0.478000													26	7					0	0	0.005443	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21925999	21925999	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21925999C>T	ENST00000542643.2	-	23	2144	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	RAP1GAP_ENST00000374765.4_Silent_p.E588E|RAP1GAP_ENST00000290101.4_Silent_p.E652E|RAP1GAP_ENST00000374761.2_Silent_p.E619E|RAP1GAP_ENST00000374763.2_Silent_p.E673E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	588					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCCTGTGTCCTCTCCGTCCA	0.657000													27	36					0	0	0.002096	0	0
DSP	1832	broad.mit.edu	37	6	7568687	7568687	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7568687C>T	ENST00000379802.3	+	11	1625	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	DSP_ENST00000418664.2_Silent_p.I428I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	428	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAGAAAATCCTTGAATACA	0.378000													54	26					0	0	0.003610	0	0
ABCA4	24	broad.mit.edu	37	1	94544976	94544976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94544976G>A	ENST00000370225.3	-	9	1227	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ABCA4_ENST00000535735.1_Missense_Mutation_p.P381S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	381					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGGTTAAAGGATTTGACTCC	0.448000													23	28					0	0	0.002299	0	0
MBD5	55777	broad.mit.edu	37	2	149226450	149226450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:149226450C>T	ENST00000407073.1	+	9	1935	c.938C>T	c.(937-939)cCa>cTa	p.P313L	MBD5_ENST00000404807.1_Missense_Mutation_p.P313L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	313						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGAAAAAACCAATGTGTAAT	0.453000													11	30					0	0	0.000978	0	0
TENM3	55714	broad.mit.edu	37	4	183675719	183675719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:183675719C>T	ENST00000511685.1	+	22	4322	c.4199C>T	c.(4198-4200)aCa>aTa	p.T1400I	TENM3_ENST00000406950.2_Missense_Mutation_p.T1400I|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GCGGTGCAGACAACACTGGAA	0.512000													17	13					0	0	0.004990	0	0
ZNF597	146434	broad.mit.edu	37	16	3487251	3487251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3487251C>T	ENST00000301744.4	-	4	683	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTGGCTCCTTCCCAGGGAGAA	0.383000													17	81					0	0	0.002299	0	0
ABHD12B	145447	broad.mit.edu	37	14	51368622	51368622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:51368622G>A	ENST00000337334.2	+	10	871	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ABHD12B_ENST00000395752.1_Missense_Mutation_p.D179N|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.D209N	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	286							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CTTTCCTAATGATGAAAAGTA	0.318000													8	3					0	0	0.006214	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883402	4883402	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:4883402G>A	ENST00000361571.5	-	8	1623	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	CAMTA2_ENST00000381311.5_Silent_p.A407A|CAMTA2_ENST00000414043.3_Silent_p.A428A|CAMTA2_ENST00000348066.3_Silent_p.A405A|CAMTA2_ENST00000358183.4_Silent_p.A405A|CAMTA2_ENST00000572543.1_Silent_p.A410A	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	405					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGTATGAGCGGCCTCTGCCT	0.642000													28	31					0	0	0.007291	0	0
STAT3	6774	broad.mit.edu	37	17	40474506	40474506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40474506G>A	ENST00000264657.5	-	21	2207	c.1895C>T	c.(1894-1896)aCc>aTc	p.T632I	STAT3_ENST00000389272.3_Missense_Mutation_p.T534I|STAT3_ENST00000588969.1_Missense_Mutation_p.T632I|STAT3_ENST00000404395.3_Missense_Mutation_p.T632I|STAT3_ENST00000585517.1_Missense_Mutation_p.T632I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	632	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGGATCTGGGTCTTACCTGT	0.448000									Hyperimmunoglobulin E Recurrent Infection Syndrome				30	145					0	0	0.002445	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784839	30784839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30784839G>A	ENST00000246229.4	-	3	1171	c.907C>T	c.(907-909)Cct>Tct	p.P303S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	303						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCATGGTAGGGATGTGGGCA	0.612000													65	90					0	0	0.003610	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877901	26877901	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26877901C>T	ENST00000374168.2	+	5	475	c.321C>T	c.(319-321)gtC>gtT	p.V107V	RPS6KA1_ENST00000374162.2_Silent_p.V15V|RPS6KA1_ENST00000530003.1_Silent_p.V91V|RPS6KA1_ENST00000526792.1_Silent_p.V15V|RPS6KA1_ENST00000374166.4_Silent_p.V107V|RPS6KA1_ENST00000531382.1_Silent_p.V116V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	107	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGACCGCGTCCGGACCAAGA	0.552000													11	19					0	0	0.002450	0	0
GTDC1	79712	broad.mit.edu	37	2	144899570	144899570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:144899570G>A	ENST00000409214.1	-	6	678	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	GTDC1_ENST00000392867.3_Missense_Mutation_p.L134F|GTDC1_ENST00000463875.2_Missense_Mutation_p.L5F|GTDC1_ENST00000344850.4_Missense_Mutation_p.L134F|GTDC1_ENST00000241391.5_Missense_Mutation_p.L134F|GTDC1_ENST00000542155.1_Missense_Mutation_p.L134F|GTDC1_ENST00000409298.1_Missense_Mutation_p.L134F|GTDC1_ENST00000392869.1_Missense_Mutation_p.L134F	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	134					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGGAAGTGAGAAATGATTCC	0.403000													24	20					0	0	0.003330	0	0
IRX1	79192	broad.mit.edu	37	5	3599525	3599525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:3599525C>T	ENST00000302006.3	+	2	515	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAATCCCTACCCCACCAAGGG	0.642000													16	76					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168102538	168102538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168102538G>A	ENST00000409195.1	+	9	4725	c.4636G>A	c.(4636-4638)Gaa>Aaa	p.E1546K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1324K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1546K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1371					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAAAGATAGAAATTATTGG	0.373000													10	34					0	0	0.000978	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													46	16					0	0	0.002852	0	0
SLTM	79811	broad.mit.edu	37	15	59179506	59179506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59179506G>A	ENST00000380516.2	-	18	2696	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	SLTM_ENST00000536328.1_Missense_Mutation_p.P439L	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	870	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCCTCTCGAGGATGTCTAGG	0.498000													25	171					0	0	0.003330	0	0
PRDM2	7799	broad.mit.edu	37	1	14108590	14108590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:14108590C>T	ENST00000235372.7	+	8	5156	c.4300C>T	c.(4300-4302)Ctt>Ttt	p.L1434F	PRDM2_ENST00000413440.1_Missense_Mutation_p.L1233F|PRDM2_ENST00000343137.4_Missense_Mutation_p.L1233F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1434F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1434	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAAGCAATTCTTCAGAAAAA	0.373000													48	69					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179702159	179702159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179702159C>T	ENST00000420890.2	-	23	3904	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E688K|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	688							protein binding	p.E688K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAACAGATTCCTGGGCATCC	0.522000													12	27					0	0	0.002450	0	0
TTC26	79989	broad.mit.edu	37	7	138819480	138819480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:138819480C>T	ENST00000464848.1	+	2	163	c.83C>T	c.(82-84)cCa>cTa	p.P28L	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.P28L|TTC26_ENST00000478836.2_Missense_Mutation_p.P28L|TTC26_ENST00000343187.4_Missense_Mutation_p.P28L|TTC26_ENST00000495038.1_Missense_Mutation_p.P28L|TTC26_ENST00000430935.1_Missense_Mutation_p.P28L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	28							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGGAAGATTCCAAAACTAGAG	0.423000													16	47					0	0	0.003163	0	0
PHF21B	112885	broad.mit.edu	37	22	45312464	45312464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:45312464C>T	ENST00000313237.5	-	4	410	c.260G>A	c.(259-261)gGc>gAc	p.G87D	PHF21B_ENST00000447824.3_Missense_Mutation_p.G75D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75D|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	87							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGGTCCCGGCCCGGGGCAAC	0.632000													60	25					0	0	0.003610	0	0
FAM83B	222584	broad.mit.edu	37	6	54735289	54735289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:54735289C>T	ENST00000306858.7	+	2	361	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	82										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTGATGATTCCTGTGATGAT	0.433000													28	170					0	0	0.002445	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972665	35972665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35972665G>A	ENST00000325722.3	-	3	448	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	72	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCAGAGGTGATTTTCTCCC	0.512000													28	52					0	0	0.007291	0	0
CAPN15	6650	broad.mit.edu	37	16	596994	596994	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:596994C>T	ENST00000219611.2	+	4	519	c.156C>T	c.(154-156)cgC>cgT	p.R52R		NM_005632.2	NP_005623.1			calpain 15																		CCTGCGCCCGCTGCACCTTCC	0.692000													9	20					0	0	0.006214	0	0
KIF1B	23095	broad.mit.edu	37	1	10381874	10381874	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:10381874C>T	ENST00000377086.1	+	24	2519	c.2317C>T	c.(2317-2319)Cta>Tta	p.L773L	KIF1B_ENST00000377081.1_Silent_p.L773L|KIF1B_ENST00000263934.6_Silent_p.L727L			O60333	KIF1B_HUMAN	kinesin family member 1B	773					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			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)		TGCCGTGTACCTAAAGGAGGC	0.517000													14	28					0	0	0.002450	0	0
ANK3	288	broad.mit.edu	37	10	61835477	61835477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61835477G>A	ENST00000280772.1	-	37	5353	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1721	Ser-rich.				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						TTTTAGAGGGGAAATAGATCC	0.408000													10	48					0	0	0.001368	0	0
CCP110	9738	broad.mit.edu	37	16	19554064	19554064	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19554064C>T	ENST00000396212.2	+	8	2785	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	CCP110_ENST00000381396.5_Silent_p.A783A|CCP110_ENST00000396208.2_Silent_p.A783A	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	783	Calmodulin-binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTGGAAGAGCCAAAACTAGAT	0.368000													10	22					0	0	0.000978	0	0
FCRL4	83417	broad.mit.edu	37	1	157559215	157559215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157559215G>A	ENST00000271532.1	-	3	221	c.86C>T	c.(85-87)cCt>cTt	p.P29L		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGTCCATGGAGGATGGACGGA	0.493000													35	13					0	0	0.003271	0	0
MUS81	80198	broad.mit.edu	37	11	65631084	65631084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65631084C>T	ENST00000308110.4	+	9	1202	c.853C>T	c.(853-855)Ccg>Tcg	p.P285S	MUS81_ENST00000533035.1_Missense_Mutation_p.P210S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	285	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CGGGCACAGGCCGGAGCTGCT	0.632000								Homologous recombination					11	3					0	0	0.000978	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383128	41383128	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41383128C>T	ENST00000301146.4	-	7	1669	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CYP2A7_ENST00000291764.3_Silent_p.K325K|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	376						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTTGGTGTCCTTTTTAACCC	0.542000													24	83					0	0	0.004656	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598735	62598735	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62598735G>A	ENST00000450537.1	-	3	323	c.264_splice	c.e3+1	p.P88_splice	ZNF512B_ENST00000369888.1_Splice_Site_p.P88_splice|ZNF512B_ENST00000217130.3_Splice_Site_p.P88_splice			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGCTCACAGGAATGTCTCG	0.597000													23	168					0	0	0.004656	0	0
FMN2	56776	broad.mit.edu	37	1	240286552	240286552	+	Silent	SNP	C	C	T	rs141488751		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240286552C>T	ENST00000319653.9	+	2	1919	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	563					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTTTTGCTCCCGGATCATTG	0.493000													44	40					0	0	0.002222	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958516	50958516	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50958516C>T	ENST00000357701.5	+	19	2217	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	722	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TAGGGGTCTCCCAGCCCAGCA	0.488000													30	101					0	0	0.005524	0	0
PLCH1	23007	broad.mit.edu	37	3	155211982	155211982	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:155211982G>A	ENST00000460012.1	-	17	2397	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	PLCH1_ENST00000447496.2_Silent_p.F698F|PLCH1_ENST00000494598.1_Silent_p.F698F|PLCH1_ENST00000334686.6_Silent_p.F680F|PLCH1_ENST00000414191.1_Silent_p.F680F|PLCH1_ENST00000340059.7_Silent_p.F698F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	698	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.F698F(1)|p.F680F(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATTTGCCTTGAATTTGGCTC	0.408000													18	68					0	0	0.001523	0	0
GRIA3	2892	broad.mit.edu	37	X	122538605	122538605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:122538605G>A	ENST00000264357.5	+	10	1632	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G447E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G447E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G431E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G447E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	447					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTGGAAGGAAATGAACGA	0.373000													33	3					0	0	0.004878	0	0
EFHD2	79180	broad.mit.edu	37	1	15752508	15752508	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:15752508C>T	ENST00000375980.4	+	2	527	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	150	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGAGCTTCCGGGAGGTAA	0.587000													7	17					0	0	0.004482	0	0
DNM3	26052	broad.mit.edu	37	1	172100375	172100375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172100375G>A	ENST00000358155.4	+	14	1782	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	DNM3_ENST00000520906.1_Missense_Mutation_p.G536R|DNM3_ENST00000355305.5_Missense_Mutation_p.G546R|DNM3_ENST00000367733.2_Missense_Mutation_p.G536R|DNM3_ENST00000367731.1_Missense_Mutation_p.G536R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	546	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGCTCGAAGGGATACTGGTT	0.433000													6	42					0	0	0.003080	0	0
XPO6	23214	broad.mit.edu	37	16	28181102	28181102	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28181102G>A	ENST00000304658.5	-	5	1034	c.534C>T	c.(532-534)gaC>gaT	p.D178D	XPO6_ENST00000565698.1_Silent_p.D164D	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	178					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCTGCACCTGGTCCAGTAGCA	0.577000													33	34					0	0	0.003271	0	0
PLK2	10769	broad.mit.edu	37	5	57751513	57751513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:57751513G>A	ENST00000274289.3	-	11	1778	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	493					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTGCTCTTTGGGAATGCAATC	0.493000													17	20					0	0	0.007413	0	0
AKAP6	9472	broad.mit.edu	37	14	33291517	33291517	+	Missense_Mutation	SNP	C	C	T	rs74976151	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:33291517C>T	ENST00000280979.4	+	13	4668	c.4498C>T	c.(4498-4500)Cgt>Tgt	p.R1500C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1500					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)		TCCCCTGCTTCGTGGTTTTTA	0.378000													12	28					0	0	0.000978	0	0
NCR1	9437	broad.mit.edu	37	19	55420851	55420851	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55420851C>T	ENST00000594765.1	+	4	628	c.603C>T	c.(601-603)ttC>ttT	p.F201F	NCR1_ENST00000350790.5_Silent_p.F106F|NCR1_ENST00000598576.1_Silent_p.F189F|NCR1_ENST00000338835.5_Silent_p.F201F|NCR1_ENST00000291890.4_Silent_p.F201F|NCR1_ENST00000447255.1_Silent_p.F201F|NCR1_ENST00000357397.5_Silent_p.F94F			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	201	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCTGGTCTTTCCCCAGTGAGC	0.602000													14	49					0	0	0.004990	0	0
NRXN2	9379	broad.mit.edu	37	11	64402788	64402788	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64402788C>T	ENST00000265459.6	-	18	4001	c.3540G>A	c.(3538-3540)cgG>cgA	p.R1180R	NRXN2_ENST00000409571.1_Silent_p.R1173R|NRXN2_ENST00000377551.1_Silent_p.R1180R|NRXN2_ENST00000301894.2_Silent_p.R134R|NRXN2_ENST00000377559.3_Silent_p.R1140R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1180	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCTGTCCACCCGCACCAGCA	0.637000													17	23					0	0	0.004990	0	0
PDIA6	10130	broad.mit.edu	37	2	10927411	10927411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10927411G>A	ENST00000404371.2	-	13	1646	c.1309C>T	c.(1309-1311)Ctc>Ttc	p.L437F	PDIA6_ENST00000540494.1_Missense_Mutation_p.L382F|PDIA6_ENST00000272227.3_Missense_Mutation_p.L385F|PDIA6_ENST00000404824.2_Missense_Mutation_p.L433F|PDIA6_ENST00000381611.4_Missense_Mutation_p.L390F			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	385					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AATTACCTGAGAAACTCGTTG	0.418000													14	49					0	0	0.004990	0	0
TGFBI	7045	broad.mit.edu	37	5	135390407	135390407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:135390407G>T	ENST00000442011.2	+	10	1428	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	TGFBI_ENST00000305126.8_Nonsense_Mutation_p.G423*	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	423	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTGTAGATGGAACCCCTCC	0.458000													8	342					0.00448238	0.00716665	0.004482	1	0
KLK5	25818	broad.mit.edu	37	19	51452358	51452358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51452358G>A	ENST00000336334.3	-	4	701	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	KLK5_ENST00000593428.1_Missense_Mutation_p.R117C|KLK5_ENST00000391809.2_Missense_Mutation_p.R117C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	117	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGCCGAGACGGACTCTGAAA	0.592000													29	58					0	0	0.002836	0	0
NRF1	4899	broad.mit.edu	37	7	129350218	129350218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:129350218C>T	ENST00000393232.1	+	7	887	c.770C>T	c.(769-771)tCa>tTa	p.S257L	NRF1_ENST00000311967.2_Missense_Mutation_p.S257L|NRF1_ENST00000393230.2_Missense_Mutation_p.S257L|NRF1_ENST00000539636.1_Missense_Mutation_p.S96L|NRF1_ENST00000223190.4_Missense_Mutation_p.S257L|NRF1_ENST00000393231.3_Missense_Mutation_p.S257L|NRF1_ENST00000353868.4_Intron	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	257					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGACAGGTTTCATGGACCCAG	0.408000													91	12					0	0	0.003610	0	0
NPRL3	8131	broad.mit.edu	37	16	167370	167370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:167370G>A	ENST00000399953.3	-	4	725	c.323C>T	c.(322-324)tCc>tTc	p.S108F	NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	108							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						ATCTGTTTTGGAGATCTGTAA	0.383000													4	9					0	0	0.000602	0	0
NES	10763	broad.mit.edu	37	1	156639569	156639569	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156639569C>A	ENST00000368223.3	-	4	4543	c.4411G>T	c.(4411-4413)Gac>Tac	p.D1471Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1471	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAAGCTGTCATCCCAGGGG	0.612000													17	51					2.39187e-15	3.89147e-15	0.001216	1	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9204289C>T	ENST00000429566.3	+	1	435	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000													43	44					0	0	0.007835	0	0
EXOC4	60412	broad.mit.edu	37	7	133041131	133041131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:133041131C>T	ENST00000253861.4	+	6	840	c.811C>T	c.(811-813)Cca>Tca	p.P271S	EXOC4_ENST00000539845.1_Missense_Mutation_p.P170S|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271S	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	271					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAATTGGATCCAGAGGAAAA	0.398000													12	74					0	0	0.001855	0	0
JAM2	58494	broad.mit.edu	37	21	27062200	27062200	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:27062200C>T	ENST00000480456.1	+	3	706	c.156C>T	c.(154-156)acC>acT	p.T52T	JAM2_ENST00000312957.5_Silent_p.T52T|JAM2_ENST00000400532.1_Silent_p.T52T|JAM2_ENST00000425221.2_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	52	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTGCAAAACCCCAAAGAAGA	0.378000													31	92					0	0	0.006230	0	0
TULP2	7288	broad.mit.edu	37	19	49388798	49388798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49388798C>T	ENST00000221399.3	-	9	1112	c.968G>A	c.(967-969)cGa>cAa	p.R323Q		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	323					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCTTCTCTTTCGCCCAGCCAG	0.512000													15	40					0	0	0.002450	0	0
OR2G2	81470	broad.mit.edu	37	1	247752288	247752288	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247752288C>T	ENST00000320065.1	+	1	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTATCCTTTTCCTTATAGTGC	0.498000													44	33					0	0	0.003610	0	0
ZNF213	7760	broad.mit.edu	37	16	3190720	3190720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3190720C>T	ENST00000396878.3	+	6	1227	c.752C>T	c.(751-753)tCc>tTc	p.S251F	ZNF213_ENST00000576416.1_Missense_Mutation_p.S251F|ZNF213_ENST00000574902.1_Missense_Mutation_p.S251F|ZNF213_ENST00000416391.2_Missense_Mutation_p.S93F	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	251	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGTGAGAAGTCCCTGCTGCAG	0.627000													37	34					0	0	0.002222	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086976	39086976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39086976C>T	ENST00000400482.3	-	3	1073	c.484G>A	c.(484-486)Gat>Aat	p.D162N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.D162N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	162					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGGCATTTATCTGTGATGACC	0.428000													16	61					0	0	0.001216	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959966	73959966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73959966C>T	ENST00000373468.1	-	3	5077	c.4426G>A	c.(4426-4428)Gag>Aag	p.E1476K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1476K			Q5QGS0	K2022_HUMAN	KIAA2022	1476					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCCCAGACTCATCCTTGTGG	0.478000													36	5					0	0	0.001951	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508985	26508985	+	Silent	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26508985T>A	ENST00000361530.6	+	6	679	c.534T>A	c.(532-534)gcT>gcA	p.A178A	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Silent_p.A178A|CNKSR1_ENST00000480348.2_3'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	178					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACGTGGCTGGGATCTGCC	0.642000													10	17					0	0	0.006214	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022196	59022196	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:59022196G>A	ENST00000263093.2	-	2	899	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	SLC27A5_ENST00000601355.1_Silent_p.L180L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	264					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCAGCCCCCAGAGCCCCCACC	0.642000													13	24					0	0	0.002450	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250735	36250735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:36250735C>T	ENST00000315571.5	+	6	847	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.P227S|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.P266S	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	276	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTTCCTCCACCGCCCTACTC	0.617000													105	26					0	0	0.003610	0	0
IL5RA	3568	broad.mit.edu	37	3	3139581	3139581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:3139581C>T	ENST00000446632.2	-	7	1256	c.682G>A	c.(682-684)Gat>Aat	p.D228N	IL5RA_ENST00000438560.1_Missense_Mutation_p.D228N|IL5RA_ENST00000456302.1_Missense_Mutation_p.D228N|IL5RA_ENST00000430514.2_Missense_Mutation_p.D228N|IL5RA_ENST00000418488.2_Missense_Mutation_p.D228N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D228N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D228N|IL5RA_ENST00000383846.1_Missense_Mutation_p.D228N|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	228					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACAGCTGATCAAAGGGCCTG	0.502000													10	33					0	0	0.000673	0	0
ZNF844	284391	broad.mit.edu	37	19	12186404	12186404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12186404C>T	ENST00000439326.3	+	4	644	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CCCCTCCTTTCAAATGCAAGA	0.408000													9	15					0	0	0.004482	0	0
CTNND1	1500	broad.mit.edu	37	11	57577603	57577603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57577603C>T	ENST00000524630.1	+	15	2953	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	CTNND1_ENST00000526772.1_Nonsense_Mutation_p.R491*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.R497*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.R497*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.R713*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.R814*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.R820*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.R719*|CTNND1_ENST00000399050.4_Nonsense_Mutation_p.R820*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.R814*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.R766*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.R491*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.R820*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.R820*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.R814*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.R814*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.R820*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.R719*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.R766*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.R814*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.R491*			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	820					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAAAGAAGTTCGAGCAGCAGC	0.398000													12	37					0	0	0.001368	0	0
ZZEF1	23140	broad.mit.edu	37	17	3924426	3924426	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:3924426G>A	ENST00000381638.2	-	45	7525	c.7401C>T	c.(7399-7401)ttC>ttT	p.F2467F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2467							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AACACACCAAGAAACATATTC	0.542000													36	102					0	0	0.002222	0	0
UFSP2	55325	broad.mit.edu	37	4	186329116	186329116	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:186329116A>G	ENST00000264689.6	-	9	1211	c.1095T>C	c.(1093-1095)ggT>ggC	p.G365G		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	365						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTGACGTTATACCGATCAATT	0.383000													7	24					0	0	0.003080	0	0
NEFM	4741	broad.mit.edu	37	8	24775443	24775443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24775443C>T	ENST00000221166.5	+	3	2857	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.S316L|NEFM_ENST00000437366.2_Missense_Mutation_p.S653L			P07197	NFM_HUMAN	neurofilament, medium polypeptide	692	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggcaaagtcaaaagcagaa	0.453000													13	20					0	0	0.001368	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711742	140711742	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140711742G>T	ENST00000517417.1	+	1	1491	c.1491G>T	c.(1489-1491)caG>caT	p.Q497H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q497H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTATCCAGGGGGCACCCC	0.542000													7	135					0.00307968	0.00492749	0.003080	1	0
IFIH1	64135	broad.mit.edu	37	2	163163336	163163336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:163163336G>A	ENST00000263642.2	-	3	1047	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	218					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCCACTTGAGGACCATCAACT	0.383000													12	18					0	0	0.001368	0	0
TCAIM	285343	broad.mit.edu	37	3	44408953	44408953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44408953C>T	ENST00000342649.4	+	5	752	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TCAIM_ENST00000417237.1_Nonsense_Mutation_p.R109*	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TCTAGGATTTCGAGCAGTCAA	0.303000													21	39					0	0	0.003330	0	0
HDAC5	10014	broad.mit.edu	37	17	42188140	42188140	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42188140C>T	ENST00000225983.6	-	3	377	c.54G>A	c.(52-54)ttG>ttA	p.L18L	HDAC5_ENST00000586802.1_Silent_p.L17L|HDAC5_ENST00000393622.2_Silent_p.L17L|HDAC5_ENST00000336057.5_Silent_p.L17L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	17					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCAGGATTTCCAAGGATGGTT	0.572000													7	33					0	0	0.004482	0	0
RPS14	6208	broad.mit.edu	37	5	149826385	149826385	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149826385G>A	ENST00000401695.3	-	3	337	c.291C>T	c.(289-291)ctC>ctT	p.L97L	RPS14_ENST00000407193.1_Silent_p.L97L|RPS14_ENST00000312037.5_Silent_p.L97L			P62263	RS14_HUMAN	ribosomal protein S14	97					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCCCGGAGTTTGATGT	0.572000													11	73					0	0	0.000978	0	0
STARD8	9754	broad.mit.edu	37	X	67937559	67937559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:67937559G>A	ENST00000252336.6	+	5	935	c.563G>A	c.(562-564)gGt>gAt	p.G188D	STARD8_ENST00000374597.3_Missense_Mutation_p.G188D|STARD8_ENST00000374599.3_Missense_Mutation_p.G268D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	188			G -> S (in a breast cancer sample; somatic mutation).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCTCAGCCGGTGGCAGTGGT	0.607000													5	9					0	0	0.001168	0	0
PSMA5	5686	broad.mit.edu	37	1	109968936	109968936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109968936G>A	ENST00000271308.4	-	1	37	c.17C>T	c.(16-18)tCt>tTt	p.S6F	PSMA5_ENST00000538610.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	6					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|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GTCGTACTCAGACCGGGTAAG	0.662000													63	102					0	0	0.003610	0	0
BRD4	23476	broad.mit.edu	37	19	15367917	15367917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15367917G>A	ENST00000263377.2	-	8	1630	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	BRD4_ENST00000360016.5_Missense_Mutation_p.S470F|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.S470F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	470					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACTGCCGGGGAGGACACGGC	0.617000			T	C15orf55	lethal midline carcinoma of young people								13	21					0	0	0.001855	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336479	115336479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115336479C>T	ENST00000337530.6	+	2	415	c.119C>T	c.(118-120)tCc>tTc	p.S40F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.S40F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.S40F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	40										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCTGAAGGTTCCCATGGGAAC	0.517000													11	19					0	0	0.001368	0	0
LIN28A	79727	broad.mit.edu	37	1	26752889	26752889	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26752889C>T	ENST00000326279.6	+	4	684	c.570C>T	c.(568-570)taC>taT	p.Y190Y	LIN28A_ENST00000254231.4_Silent_p.Y190Y	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	190					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGCCAACCTACTTTCGAGAGG	0.547000													17	25					0	0	0.001882	0	0
GC	2638	broad.mit.edu	37	4	72635106	72635106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:72635106C>T	ENST00000273951.8	-	2	413	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	GC_ENST00000504199.1_Missense_Mutation_p.E43K|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E24K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	24	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTATTCTTTTCATAATCCCGG	0.408000													7	11					0	0	0.006214	0	0
LRRN2	10446	broad.mit.edu	37	1	204588311	204588311	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:204588311C>T	ENST00000367175.1	-	1	3022	c.810G>A	c.(808-810)aaG>aaA	p.K270K	LRRN2_ENST00000367177.3_Silent_p.K270K|LRRN2_ENST00000367176.3_Silent_p.K270K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	270					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGAGCGGGTTCTTGTTGAGGT	0.602000													51	33					0	0	0.003610	0	0
CLCN2	1181	broad.mit.edu	37	3	184075882	184075882	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184075882G>A	ENST00000265593.4	-	5	654	c.481_splice	c.e5-1	p.G161_splice	CLCN2_ENST00000457512.1_Splice_Site_p.G161_splice|CLCN2_ENST00000344937.7_Splice_Site_p.G161_splice|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Splice_Site_p.G117_splice|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	161						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGATGCCAGAGCCTGGAGAGG	0.552000													28	66					0	0	0.001512	0	0
TOB1	10140	broad.mit.edu	37	17	48940550	48940550	+	Missense_Mutation	SNP	G	G	A	rs150689356		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48940550G>A	ENST00000499247.2	-	2	1262	c.829C>T	c.(829-831)Cct>Tct	p.P277S	TOB1_ENST00000268957.3_Missense_Mutation_p.P277S	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	277					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCATATTAGGAAAAATAAAT	0.507000													24	32					0	0	0.002780	0	0
CCDC88B	283234	broad.mit.edu	37	11	64121212	64121212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64121212G>A	ENST00000356786.5	+	23	3903	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	CCDC88B_ENST00000301897.4_Silent_p.A5A|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E439K|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1287					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGCGCCGCGAGAAGCAGAA	0.642000													42	111					0	0	0.002852	0	0
OR10T2	128360	broad.mit.edu	37	1	158368976	158368976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158368976G>A	ENST00000334438.1	-	1	280	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGCCATGAAGGAGATGGTCTT	0.478000													13	35					0	0	0.001855	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812225	140812225	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140812225G>A	ENST00000252085.3	+	1	2041	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCTGCTGGACAGAGACG	0.692000													23	89					0	0	0.002299	0	0
HOXB3	3213	broad.mit.edu	37	17	46628188	46628188	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46628188G>A	ENST00000470495.1	-	2	2251	c.804C>T	c.(802-804)ccC>ccT	p.P268P	HOXB3_ENST00000490677.1_Silent_p.P134P|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.P195P|HOXB3_ENST00000311626.4_Silent_p.P268P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.P268P|HOXB3_ENST00000476342.1_Silent_p.P268P|HOXB3_ENST00000472863.1_Silent_p.P195P|HOXB3_ENST00000460160.1_Silent_p.P136P|HOXB3_ENST00000485909.2_Silent_p.P136P|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	268					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGACTGCATGGGCTGCGGGG	0.647000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	70					0	0	0.003610	0	0
BRIP1	83990	broad.mit.edu	37	17	59760695	59760695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:59760695G>A	ENST00000259008.2	-	20	3979	c.3712C>T	c.(3712-3714)Cct>Tct	p.P1238S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1238					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTTTGGAAGGAGATGGTTTA	0.289000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					39	54					0	0	0.007835	0	0
PCNT	5116	broad.mit.edu	37	21	47754535	47754535	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47754535C>T	ENST00000359568.5	+	3	599	c.492C>T	c.(490-492)caC>caT	p.H164H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	164					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCAGTGACCACCCACCAGAAC	0.552000													10	53					0	0	0.006214	0	0
NOX4	50507	broad.mit.edu	37	11	89184968	89184968	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89184968G>A	ENST00000535633.1	-	3	487	c.177C>T	c.(175-177)ctC>ctT	p.L59L	NOX4_ENST00000527956.1_Silent_p.L59L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Silent_p.L83L|NOX4_ENST00000542487.1_Silent_p.L59L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Silent_p.L59L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000528341.1_Silent_p.L58L|NOX4_ENST00000534731.1_Silent_p.L83L|NOX4_ENST00000343727.5_Silent_p.L59L|NOX4_ENST00000413594.2_Silent_p.L104L|NOX4_ENST00000532825.1_Silent_p.L59L|NOX4_ENST00000263317.4_Silent_p.L83L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	83	Ferric oxidoreductase.				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)				GTGATCCTCGGAGGTAAGCCA	0.413000													37	27					0	0	0.002522	0	0
COL25A1	84570	broad.mit.edu	37	4	109745367	109745367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:109745367C>T	ENST00000399132.1	-	35	2338	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	COL25A1_ENST00000399127.1_Missense_Mutation_p.R606Q|COL25A1_ENST00000399126.1_Missense_Mutation_p.R603Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	603	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTCTCACCCCGTGGACCAGG	0.413000													17	7					0	0	0.001216	0	0
PAAF1	80227	broad.mit.edu	37	11	73627595	73627595	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73627595C>T	ENST00000544909.1	+	7	1085	c.828C>T	c.(826-828)ttC>ttT	p.F276F	PAAF1_ENST00000535604.1_Silent_p.F160F|PAAF1_ENST00000376384.5_Silent_p.F258F|PAAF1_ENST00000310571.3_Silent_p.F275F|PAAF1_ENST00000536003.1_Silent_p.F258F|PAAF1_ENST00000544552.1_Silent_p.F258F|PAAF1_ENST00000541951.1_Silent_p.F160F			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	275					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CCCAGGTGTTCCTCTTTATTG	0.383000													13	51					0	0	0.002450	0	0
USP6NL	9712	broad.mit.edu	37	10	11505009	11505009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:11505009C>T	ENST00000379237.1	-	15	2312	c.1918G>A	c.(1918-1920)Gga>Aga	p.G640R	USP6NL_ENST00000277575.5_Missense_Mutation_p.G657R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	640						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGTTTCCGTGGTAAACG	0.552000													5	1					0	0	0.000602	0	0
TMEM174	134288	broad.mit.edu	37	5	72469221	72469221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:72469221G>A	ENST00000296776.5	+	1	200	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	51						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGGACTGGTGGGGATCACATT	0.572000													95	35					0	0	0.003610	0	0
TEX19	400629	broad.mit.edu	37	17	80320274	80320274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80320274G>A	ENST00000333437.4	+	2	558	c.248G>A	c.(247-249)tGg>tAg	p.W83*		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	83						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GAGCTGAGCTGGGGGCAGAGC	0.642000													11	44					0	0	0.000673	0	0
MYO9A	4649	broad.mit.edu	37	15	72338351	72338351	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72338351A>C	ENST00000356056.5	-	2	1026	c.554T>G	c.(553-555)gTt>gGt	p.V185G	MYO9A_ENST00000424560.1_Missense_Mutation_p.V185G|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185G|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185G|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	185	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGTTAATAACTATTAGAAT	0.333000													14	52					0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152287816C>T	ENST00000368799.1	-	2	152	c.117G>A	c.(115-117)aaG>aaA	p.K39K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis				38	118					0	0	0.003610	0	0
PDXK	8566	broad.mit.edu	37	21	45152403	45152403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45152403C>T	ENST00000327574.4	+	2	495	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000398081.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	109					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CGACTTCATTCTCGGATACGT	0.458000													45	132					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181745324G>A	ENST00000526775.1	+	37	5335	c.5170G>A	c.(5170-5172)Gag>Aag	p.E1724K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1743K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1743					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000													29	136					0	0	0.007291	0	0
INVS	27130	broad.mit.edu	37	9	103014671	103014671	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:103014671C>T	ENST00000262457.2	+	9	1370	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	INVS_ENST00000262456.2_Silent_p.F395F|INVS_ENST00000541287.1_Silent_p.F299F	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	395					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTCCACTTTTCCGAGCCTGTG	0.413000													23	23					0	0	0.001882	0	0
KLHL9	55958	broad.mit.edu	37	9	21334327	21334327	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:21334327G>A	ENST00000359039.4	-	1	1052	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	KLHL9_ENST00000537938.1_Silent_p.L110L			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	178	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGTTCTTCAGGATGAAATTA	0.363000													8	4					0	0	0.003080	0	0
BRCA1	672	broad.mit.edu	37	17	41223166	41223166	+	Missense_Mutation	SNP	G	G	A	rs80357002		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:41223166G>A	ENST00000309486.4	-	14	4904	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	BRCA1_ENST00000591534.1_Missense_Mutation_p.R80C|BRCA1_ENST00000352993.3_Missense_Mutation_p.R447C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R485C|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.R406C|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1610C|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1589C|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R485C|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1542C	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1589					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGCCAACACGAGCTGACTCT	0.483000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			49	152					0	0	0.003610	0	0
NOD2	64127	broad.mit.edu	37	16	50753905	50753905	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:50753905C>T	ENST00000300589.2	+	7	2805	c.2700C>T	c.(2698-2700)tcC>tcT	p.S900S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	900					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAACACCTCCTTGCAGTTCC	0.587000													17	18					0	0	0.007413	0	0
NME8	51314	broad.mit.edu	37	7	37907312	37907312	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:37907312C>T	ENST00000199447.4	+	11	1002	c.630C>T	c.(628-630)ttC>ttT	p.F210F	NME8_ENST00000440017.1_Silent_p.F210F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	210	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTGTGACTTCGAAGAGTTTG	0.388000													18	57					0	0	0.001523	0	0
ZNF25	219749	broad.mit.edu	37	10	38241797	38241797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:38241797G>A	ENST00000302609.7	-	6	841	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CTGGTAGAAGGATTTTTCACA	0.388000													26	60					0	0	0.006320	0	0
KCNH7	90134	broad.mit.edu	37	2	163241343	163241343	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:163241343G>A	ENST00000332142.5	-	13	2916	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	939					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)	CATCAATGGAGGAGATGAAAG	0.418000													39	59					0	0	0.002852	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604065	54604065	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54604065C>T	ENST00000474759.1	+	8	870	c.822C>T	c.(820-822)atC>atT	p.I274I	CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	274	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCTGACTATCGCGAAGCAAA	0.463000													54	46					0	0	0.003610	0	0
CENPF	1063	broad.mit.edu	37	1	214817969	214817969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214817969C>T	ENST00000366955.3	+	13	5224	c.5056C>T	c.(5056-5058)Cca>Tca	p.P1686S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1782					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAAGAACACCAAAGCATGA	0.383000													14	61					0	0	0.004007	0	0
LMX1A	4009	broad.mit.edu	37	1	165218703	165218703	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:165218703C>T	ENST00000342310.3	-	4	820	c.438G>A	c.(436-438)ggG>ggA	p.G146G	LMX1A_ENST00000294816.2_Silent_p.G146G|LMX1A_ENST00000367893.4_Silent_p.G146G	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	146	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTCATAGTCCCCTTTGCAGA	0.612000													48	32					0	0	0.003610	0	0
TRPV6	55503	broad.mit.edu	37	7	142572893	142572893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142572893C>T	ENST00000359396.3	-	9	1392	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	383					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCCGGATATCGTCCTTAGGG	0.572000													33	110					0	0	0.004878	0	0
INPP5F	22876	broad.mit.edu	37	10	121551380	121551380	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:121551380G>C	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F								phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343000													14	22					0	0	0.001855	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300771	41300771	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:41300771G>C	ENST00000347132.5	+	12	1827		c.e12+1		KCNQ4_ENST00000509682.2_Splice_Site|KCNQ4_ENST00000506017.1_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGCAAACTCGGTGGGTGCACC	0.637000													15	32					0	0	0.003163	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367324	3367324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3367324C>T	ENST00000574298.1	+	6	819	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAAAGAAAATCATTTTGATAT	0.398000													17	29					0	0	0.004007	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518385	41518385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41518385C>T	ENST00000324071.4	+	7	1154	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	CYP2B6_ENST00000330446.5_Missense_Mutation_p.P183S|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P147S	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	383					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTACATCATCCCCAAGGTAAG	0.512000													14	41					0	0	0.002450	0	0
KRT81	3887	broad.mit.edu	37	12	52681871	52681871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52681871C>T	ENST00000327741.5	-	5	865	c.797G>A	c.(796-798)aGc>aAc	p.S266N	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	266	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGTCCCGGCTGTTGTCCAG	0.562000													21	104					0	0	0.001216	0	0
KLK1	3816	broad.mit.edu	37	19	51322477	51322477	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51322477G>A	ENST00000448701.2	-	6	1780	c.456C>T	c.(454-456)atC>atT	p.I152I	KLK1_ENST00000301420.2_Silent_p.I254I			P06870	KLK1_HUMAN	kallikrein 1	254	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGTCCTCGATCCACTTCA	0.542000													46	37					0	0	0.003610	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454035	6454035	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6454035G>T	ENST00000301454.4	-	7	966	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	SLC25A23_ENST00000414491.2_Missense_Mutation_p.S104Y|SLC25A23_ENST00000334510.5_Missense_Mutation_p.S287Y	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	287					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCAGCCAGGGAGCCAGCCAC	0.642000													9	42					5.16669e-11	8.3814e-11	0.000978	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64699222	64699222	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64699222T>G	ENST00000164133.2	+	11	1620	c.996_splice	c.e11-1	p.V333_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	333					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCACCCAGGTGATGTTTCTG	0.567000													16	36					0	0	0.006122	0	0
SELT	51714	broad.mit.edu	37	3	150340893	150340893	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:150340893G>A	ENST00000471696.1	+	3	387	c.312G>A	c.(310-312)aaG>aaA	p.K104K	SELT_ENST00000477889.1_Silent_p.K46K|SELT_ENST00000485923.1_Silent_p.K46K|SELT_ENST00000480740.1_Silent_p.K46K	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		104					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGTTGGCAAGGATCCTTTTG	0.373000													15	27					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	90024648	90024648	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:90024648T>C	ENST00000405460.2	+	49	10420	c.10324T>C	c.(10324-10326)Ttt>Ctt	p.F3442L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3442					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)		TGGCAGTGGGTTTATTAACTT	0.448000													52	8					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23915461	23915461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23915461G>A	ENST00000382298.3	-	10	3142	c.2554C>T	c.(2554-2556)Ctt>Ttt	p.L852F	SACS_ENST00000402364.1_Missense_Mutation_p.L102F|SACS_ENST00000382292.3_Missense_Mutation_p.L852F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	852					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)		AATTTTTTAAGGACAAACCCT	0.348000													12	36					0	0	0.001368	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812825	45812825	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45812825C>T	ENST00000358525.4	-	6	934	c.819G>A	c.(817-819)caG>caA	p.Q273Q	SLC6A20_ENST00000353278.4_Silent_p.Q236Q|SLC6A20_ENST00000456124.2_Silent_p.Q273Q	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	273					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGGCGTGCTTCTGGCAGTTGT	0.527000													19	57					0	0	0.007413	0	0
CSHL1	1444	broad.mit.edu	37	17	61987391	61987391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61987391G>A	ENST00000450719.3	-	3	557	c.320C>T	c.(319-321)cCc>cTc	p.P107L	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P118L			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATTCACGAGGGGAAATGAAGA	0.547000													28	93					0	0	0.001786	0	0
CACNB4	785	broad.mit.edu	37	2	152695818	152695818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152695818C>T	ENST00000360283.6	-	13	1536	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	CACNB4_ENST00000397327.2_Missense_Mutation_p.E413K|CACNB4_ENST00000427385.1_Missense_Mutation_p.E442K|CACNB4_ENST00000201943.5_Missense_Mutation_p.E398K|CACNB4_ENST00000539935.1_Missense_Mutation_p.E460K|CACNB4_ENST00000534999.1_Missense_Mutation_p.E426K			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	460					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGATAATTTTCATCAGAGGTC	0.433000													24	81					0	0	0.003330	0	0
FAM73B	84895	broad.mit.edu	37	9	131830564	131830564	+	Missense_Mutation	SNP	C	C	T	rs34832472		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131830564C>T	ENST00000358369.4	+	13	1583	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	453						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCCTCGGTGCTCGCCGTCCT	0.612000													14	41					0	0	0.001855	0	0
HINT2	84681	broad.mit.edu	37	9	35813502	35813502	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35813502G>A	ENST00000259667.5	-	3	308	c.267C>T	c.(265-267)ttC>ttT	p.F89F	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	89	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GAATGACCAGGAAGTGCACAG	0.567000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	15					0	0	0.001368	0	0
RNMT	8731	broad.mit.edu	37	18	13740181	13740181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:13740181C>T	ENST00000383314.2	+	6	935	c.695C>T	c.(694-696)tCt>tTt	p.S232F	RNMT_ENST00000589866.1_Missense_Mutation_p.S232F|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.S232F|RNMT_ENST00000262173.3_Missense_Mutation_p.S232F|RNMT_ENST00000592764.1_Missense_Mutation_p.S232F			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	232					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GCCGATGTTTCTGTCAAACAG	0.393000													7	8					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488714	37488714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37488714G>A	ENST00000374660.1	+	36	3064	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E870K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E870K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGGGATTCTGAGGTACTATG	0.299000													6	13					0	0	0.003080	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602821	37602821	+	Missense_Mutation	SNP	C	C	T	rs146572771	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:37602821C>T	ENST00000399151.3	+	14	1824	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	580					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAGATGCTTCGTTTCCCCCT	0.473000													17	63					0	0	0.004990	0	0
THPO	7066	broad.mit.edu	37	3	184091368	184091368	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184091368C>T	ENST00000204615.7	-	5	445	c.231G>A	c.(229-231)gaG>gaA	p.E77E	THPO_ENST00000421442.2_Silent_p.E77E|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.E77E	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	77					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTGGTCTCCTCCTGAGAAA	0.572000													3	15					0	0	0.004672	0	0
DCHS2	54798	broad.mit.edu	37	4	155256132	155256132	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:155256132G>A	ENST00000357232.3	-	8	1103	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	DCHS2_ENST00000339452.1_Silent_p.F867F|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	368	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F368L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAGTTGTCTGGAAAATGTGTA	0.443000													16	49					0	0	0.004007	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897137	205897137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:205897137C>T	ENST00000367135.3	-	9	1107	c.994G>A	c.(994-996)Gac>Aac	p.D332N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.D332N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D332N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	332						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCTATCATGTCCTTCCACTGT	0.617000													35	17					0	0	0.004878	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561813	142561813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142561813G>A	ENST00000295992.3	-	4	832	c.526C>T	c.(526-528)Cct>Tct	p.P176S	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P176S	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	176	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACTCCTGCAGGGTAATCCCGG	0.483000													22	43					0	0	0.002299	0	0
TULP4	56995	broad.mit.edu	37	6	158924013	158924013	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:158924013C>T	ENST00000367097.3	+	13	4675	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1106					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCTTGAGGCACCCTCCCCTGC	0.632000													24	15					0	0	0.005443	0	0
RAB36	9609	broad.mit.edu	37	22	23503099	23503099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:23503099C>T	ENST00000263116.2	+	10	891	c.851C>T	c.(850-852)gCc>gTc	p.A284V	RAB36_ENST00000341989.4_Missense_Mutation_p.A262V	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	284					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AGCCGCGTAGCCGCCCTGGCA	0.597000													58	24					0	0	0.003610	0	0
ERCC4	2072	broad.mit.edu	37	16	14042072	14042072	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14042072C>T	ENST00000311895.7	+	11	2628	c.2619C>T	c.(2617-2619)atC>atT	p.I873I		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	873	Interaction with EME1 and ERCC1.		I -> V (in dbSNP:rs2020957).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTAAGAACATCGCAGAATTAG	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	32					0	0	0.003954	0	0
PCDH15	65217	broad.mit.edu	37	10	55566661	55566661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55566661G>A	ENST00000373965.2	-	36	5127	c.4733C>T	c.(4732-4734)cCc>cTc	p.P1578L	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1575L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTTAAAGGGCCCTCCCAG	0.453000										HNSCC(58;0.16)			48	102					0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	166019276	166019276	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166019276G>A	ENST00000360093.3	-	8	1248	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	SCN3A_ENST00000409101.3_Silent_p.L253L|SCN3A_ENST00000283254.7_Silent_p.L253L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	253						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AACACAGTCAGGATCATCACA	0.493000													25	45					0	0	0.006320	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598926	31598926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31598926C>T	ENST00000376033.2	+	16	2710	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P826S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	826	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGCGAGACTCCTCCAGTACC	0.502000													33	173					0	0	0.004878	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:166924680G>A	ENST00000061240.2	+	6	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R257Q|TLL1_ENST00000513213.1_Missense_Mutation_p.R257Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408000													14	35					0	0	0.003163	0	0
TMEM156	80008	broad.mit.edu	37	4	38995437	38995437	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:38995437C>T	ENST00000381938.3	-	3	647	c.540G>A	c.(538-540)tcG>tcA	p.S180S		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	180						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGTAGTTTATCGATTTCTCCT	0.368000													29	45					0	0	0.007291	0	0
NPY5R	4889	broad.mit.edu	37	4	164271932	164271932	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164271932C>T	ENST00000515560.1	+	4	2029	c.507C>T	c.(505-507)gcC>gcT	p.A169A	NPY5R_ENST00000338566.3_Silent_p.A169A|NPY5R_ENST00000506953.1_Silent_p.A169A			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	169					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGGTTTTGCCATCTGTTCTC	0.408000													46	148					0	0	0.003610	0	0
ZIM2	23619	broad.mit.edu	37	19	57286357	57286357	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57286357A>C	ENST00000391708.3	-	12	1825	c.1283T>G	c.(1282-1284)cTt>cGt	p.L428R	ZIM2_ENST00000601070.1_Missense_Mutation_p.L428R|ZIM2_ENST00000599935.1_Missense_Mutation_p.L428R|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.L428R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L428R|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAGATGTTGAAGAAGATGCAC	0.453000													18	42					0	0	0.006122	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581260	234581260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234581260C>T	ENST00000354728.4	+	1	762	c.680C>T	c.(679-681)gCc>gTc	p.A227V	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TTCAAAAATGCCCTAGAAATA	0.428000													79	129					0	0	0.003610	0	0
LNX2	222484	broad.mit.edu	37	13	28155802	28155802	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:28155802C>T	ENST00000316334.3	-	2	168	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	13							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGAGGAGGTCTGTTCCACAG	0.423000													20	17					0	0	0.002780	0	0
HTR6	3362	broad.mit.edu	37	1	20005187	20005187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20005187G>A	ENST00000289753.1	+	2	1309	c.842G>A	c.(841-843)tGg>tAg	p.W281*		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	281					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTTGTGACCTGGTTGCCCTTC	0.622000													10	9					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9064631	9064631	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9064631G>A	ENST00000397910.4	-	3	23018	c.22815C>T	c.(22813-22815)ccC>ccT	p.P7605P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7607	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7605P(2)|p.P3238P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAAATCCTGGGGATGGTTC	0.483000													16	39					0	0	0.004007	0	0
ABI3	51225	broad.mit.edu	37	17	47295266	47295266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:47295266C>T	ENST00000225941.1	+	3	949	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	ABI3_ENST00000419580.2_Missense_Mutation_p.H145Y	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	151					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGACATTGGCCATGGGATCAA	0.617000										HNSCC(55;0.14)			40	52					0	0	0.003610	0	0
MEFV	4210	broad.mit.edu	37	16	3293550	3293550	+	Missense_Mutation	SNP	G	G	A	rs104895107		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3293550G>A	ENST00000219596.1	-	10	1976	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L	MEFV_ENST00000536379.1_Missense_Mutation_p.P435L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.P466L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	646	B30.2/SPRY.		P -> L (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)	GAGGAAACTCGGAGAGCCCAG	0.522000													41	114					0	0	0.007835	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726483	15726483	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15726483G>A	ENST00000441682.2	+	0	120							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCATCCCCGTGGCTGCTCCTG	0.682000													16	18					0	0	0.003163	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483008	54483008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:54483008G>A	ENST00000317802.7	-	1	401	c.281C>T	c.(280-282)cCc>cTc	p.P94L	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	94					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCCCTCCGCGGGTGGTGGAGT	0.617000													10	33					0	0	0.006214	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055474	9055474	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9055474G>A	ENST00000383836.3	-	16	2293	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	SRGAP3_ENST00000360413.3_Silent_p.T598T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	622	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCGGGGAAGGGTGACGAGGA	0.552000			T	RAF1	pilocytic astrocytoma								37	35					0	0	0.001951	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290737	141290737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:141290737G>A	ENST00000247452.3	-	3	1384	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	346						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAATTGTGGCCTGGACTCT	0.453000										HNSCC(46;0.14)			37	52					0	0	0.002222	0	0
GLT1D1	144423	broad.mit.edu	37	12	129429874	129429874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:129429874G>A	ENST00000442111.2	+	9	707	c.619G>A	c.(619-621)Gat>Aat	p.D207N	GLT1D1_ENST00000542193.1_Missense_Mutation_p.D124N|GLT1D1_ENST00000281703.6_Missense_Mutation_p.D127N|GLT1D1_ENST00000537468.1_Missense_Mutation_p.D212N			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	207					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.D127H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTTCAGGTCGATCCAGTGTT	0.572000													36	9					0	0	0.006230	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645387	94645387	+	Missense_Mutation	SNP	T	T	G	rs138781972		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94645387T>G	ENST00000260526.6	-	20	2556	c.2374A>C	c.(2374-2376)Atg>Ctg	p.M792L	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	792	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.M792V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTATACACATATTTGGCCAT	0.308000													33	37					0	0	0.003271	0	0
TRPC4	7223	broad.mit.edu	37	13	38211653	38211653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38211653G>A	ENST00000379705.3	-	11	3178	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L	TRPC4_ENST00000338947.5_Missense_Mutation_p.S601L|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.S774L|TRPC4_ENST00000379679.1_Missense_Mutation_p.S601L|TRPC4_ENST00000379673.2_Missense_Mutation_p.S709L|TRPC4_ENST00000379681.3_Missense_Mutation_p.S779L|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	774	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.S779L(1)|p.S774L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGAGTCTGCCGAATTTGAAGA	0.408000													16	32					0	0	0.007413	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388554	56388554	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56388554G>A	ENST00000355701.3	-	19	3972	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	BZRAP1_ENST00000343736.4_Silent_p.P1034P|BZRAP1_ENST00000268893.6_Silent_p.P974P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1034	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCTGCCGTGGGTGAGGCCA	0.652000													6	11					0	0	0.000673	0	0
TTC24	164118	broad.mit.edu	37	1	156554673	156554673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156554673C>T	ENST00000368236.3	+	7	1292	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	TTC24_ENST00000368237.3_Missense_Mutation_p.S419L|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	419							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCAGACTTCGGCTCCGGGA	0.582000													15	1					0	0	0.004007	0	0
CHAT	1103	broad.mit.edu	37	10	50854610	50854610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50854610G>A	ENST00000395562.2	+	9	1394	c.925G>A	c.(925-927)Gac>Aac	p.D309N	CHAT_ENST00000351556.3_Missense_Mutation_p.D273N|CHAT_ENST00000455728.2_Missense_Mutation_p.D273N|CHAT_ENST00000339797.1_Missense_Mutation_p.D273N|CHAT_ENST00000395559.2_Missense_Mutation_p.D273N|CHAT_ENST00000337653.2_Missense_Mutation_p.D391N	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	391					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGTATGCCTGGACGCGCCAGG	0.642000													37	39					0	0	0.002522	0	0
TBX20	57057	broad.mit.edu	37	7	35288374	35288374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:35288374G>A	ENST00000408931.3	-	3	986	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	154						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGTCCACAGGGACGATGTCC	0.602000													15	93					0	0	0.004007	0	0
C17orf70	80233	broad.mit.edu	37	17	79514790	79514790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79514790G>A	ENST00000425898.2	-	1	734	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	C17orf70_ENST00000327787.8_Intron|C17orf70_ENST00000537152.1_Intron			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	0					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTAGGCACCGAGCCTGGCTC	0.652000													8	6					0	0	0.004482	0	0
ESPL1	9700	broad.mit.edu	37	12	53685836	53685836	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53685836C>T	ENST00000257934.4	+	27	5851	c.5760C>T	c.(5758-5760)tcC>tcT	p.S1920S	ESPL1_ENST00000552462.1_Silent_p.S1920S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1920					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTGCCCTCCTTCCGCTTCC	0.577000													20	99					0	0	0.002780	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965835	35965835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:35965835G>A	ENST00000274278.3	-	4	853	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	UGT3A1_ENST00000507113.1_Missense_Mutation_p.L132F|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L166F|UGT3A1_ENST00000333811.4_Missense_Mutation_p.L112F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	166						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGTGGGAAGAATGGCCACA	0.433000													9	42					0	0	0.004482	0	0
ENTPD1	953	broad.mit.edu	37	10	97605216	97605216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:97605216C>T	ENST00000371203.5	+	5	849	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q226*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q233*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q88*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q238*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q118*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	226					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTTGTACCCCAAAACCAGAC	0.458000													71	61					0	0	0.003610	0	0
PRDM15	63977	broad.mit.edu	37	21	43240524	43240524	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43240524G>A	ENST00000422911.1	-	18	2339	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	PRDM15_ENST00000269844.3_Silent_p.I1055I|PRDM15_ENST00000447207.2_Silent_p.I689I|PRDM15_ENST00000538201.1_Silent_p.I709I|PRDM15_ENST00000398548.1_Silent_p.I726I			P57071	PRD15_HUMAN	PR domain containing 15	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCAGGGGTGGATGTACCTGA	0.607000													7	17					0	0	0.003080	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315291	22315291	+	RNA	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22315291A>G	ENST00000390434.3	+	0	454																											CACCCTGGTTAAAGGCATCAA	0.493000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	114					0	0	0.003610	0	0
NDNF	79625	broad.mit.edu	37	4	121966872	121966872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:121966872G>A	ENST00000379692.4	-	2	647	c.121C>T	c.(121-123)Cat>Tat	p.H41Y		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	41										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GACGAATCATGAAAAAATGCC	0.433000													16	34					0	0	0.004990	0	0
NCAPG2	54892	broad.mit.edu	37	7	158456965	158456965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:158456965G>A	ENST00000409339.3	-	15	1839	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	NCAPG2_ENST00000449727.2_Missense_Mutation_p.H576Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.H368Y|NCAPG2_ENST00000409423.1_Missense_Mutation_p.H576Y|NCAPG2_ENST00000541468.1_Missense_Mutation_p.H77Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.H576Y			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	576					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAAGCAATGACGAATAACG	0.403000													114	13					0	0	0.003610	0	0
PLCE1	51196	broad.mit.edu	37	10	96044689	96044689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96044689C>T	ENST00000260766.3	+	22	5636	c.5002C>T	c.(5002-5004)Ctt>Ttt	p.L1668F	PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.L1360F|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.L1360F|PLCE1_ENST00000371380.2_Missense_Mutation_p.L1668F|PLCE1-AS1_ENST00000440198.1_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1668					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.L1668F(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTTTCTGACCTTGTAATCTA	0.313000													13	37					0	0	0.002450	0	0
PTBP2	58155	broad.mit.edu	37	1	97278483	97278483	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97278483C>T	ENST00000236228.6	+	12	1469	c.1388_splice	c.e12+1	p.P463_splice	PTBP2_ENST00000394184.3_Splice_Site_p.P479_splice|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Splice_Site_p.P468_splice|PTBP2_ENST00000426398.2_Splice_Site_p.P463_splice|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Splice_Site_p.P468_splice	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	463	RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATCTAATATCCCGTAAGTATA	0.308000													11	16					0	0	0.000978	0	0
EPHA6	285220	broad.mit.edu	37	3	96706726	96706726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:96706726G>A	ENST00000389672.5	+	3	1041	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E335K|EPHA6_ENST00000542517.1_Missense_Mutation_p.E241K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	240	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAGAGTGCTGAAGAGCGTGA	0.478000													33	110					0	0	0.003755	0	0
SHANK2	22941	broad.mit.edu	37	11	70333233	70333233	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:70333233G>A	ENST00000338508.4	-	32	3167	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	SHANK2_ENST00000449833.2_Silent_p.I460I|SHANK2_ENST00000423696.2_Silent_p.I676I|SHANK2_ENST00000409161.1_Silent_p.I459I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	676					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGGGGTCGATCTCCATGC	0.692000													15	45					0	0	0.003163	0	0
MYOM3	127294	broad.mit.edu	37	1	24406641	24406641	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:24406641G>A	ENST00000330966.7	-	20	2616	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.S817S|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.S817S			Q5VTT5	MYOM3_HUMAN	myomesin 3	817	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCAGCACCAGGGATGTGGCCC	0.622000													10	16					0	0	0.001368	0	0
OR7D4	125958	broad.mit.edu	37	19	9325456	9325456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9325456C>T	ENST00000308682.2	-	1	86	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTTCAGGATCATCTGAGAGT	0.507000													32	40					0	0	0.003271	0	0
RGS9	8787	broad.mit.edu	37	17	63223473	63223473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:63223473C>T	ENST00000449996.3	+	19	2036	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	RGS9_ENST00000262406.9_Missense_Mutation_p.S658L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	658					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACAGGAGAGTCGGGTGACCGG	0.582000													17	35					0	0	0.006122	0	0
DLG2	1740	broad.mit.edu	37	11	83344270	83344270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:83344270G>A	ENST00000398309.2	-	14	2079	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	DLG2_ENST00000398304.1_Missense_Mutation_p.R19C|DLG2_ENST00000418306.2_Missense_Mutation_p.R434C|DLG2_ENST00000404783.3_Missense_Mutation_p.R19C|DLG2_ENST00000376104.2_Missense_Mutation_p.R642C|DLG2_ENST00000543673.1_Missense_Mutation_p.R642C|DLG2_ENST00000530800.1_Missense_Mutation_p.R46C|DLG2_ENST00000426717.2_Missense_Mutation_p.R19C|DLG2_ENST00000531015.1_Missense_Mutation_p.R504C|DLG2_ENST00000376106.3_Missense_Mutation_p.R19C|DLG2_ENST00000537455.1_Missense_Mutation_p.R291C|DLG2_ENST00000330014.6_Missense_Mutation_p.R476C|DLG2_ENST00000532653.1_Missense_Mutation_p.R537C|DLG2_ENST00000280241.8_Missense_Mutation_p.R576C|DLG2_ENST00000524982.1_Missense_Mutation_p.R537C	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	537	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R642C(1)|p.R537C(1)|p.R576C(1)|p.R434C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAGAGGGAGCGTTTCTGATTG	0.478000													19	13					0	0	0.003954	0	0
PCNT	5116	broad.mit.edu	37	21	47831942	47831942	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47831942C>T	ENST00000359568.5	+	28	6062	c.5955C>T	c.(5953-5955)tcC>tcT	p.S1985S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1985					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGAGGCCTCCCATGATGCTG	0.642000													8	39					0	0	0.000673	0	0
KIAA1467	57613	broad.mit.edu	37	12	13221609	13221609	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:13221609C>T	ENST00000197268.8	+	9	1452	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	444						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CATTAGATTTCCTTCTGCAGA	0.383000													9	58					0	0	0.006214	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374808	48374808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:48374808C>T	ENST00000222002.3	-	6	901	c.762G>A	c.(760-762)tgG>tgA	p.W254*		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	254					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGTGATTTTTCCAGTCCCCAG	0.483000													35	15					0	0	0.003271	0	0
HDAC9	9734	broad.mit.edu	37	7	18687443	18687443	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18687443G>A	ENST00000406451.3	+	10	1212	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	HDAC9_ENST00000456174.2_Silent_p.E326E|HDAC9_ENST00000524023.1_Silent_p.E277E|HDAC9_ENST00000417496.2_Silent_p.E352E|HDAC9_ENST00000428307.2_Silent_p.E310E|HDAC9_ENST00000406072.1_Silent_p.E341E|HDAC9_ENST00000432645.2_Silent_p.E354E|HDAC9_ENST00000405010.3_Silent_p.E354E|HDAC9_ENST00000441542.2_Silent_p.E357E|HDAC9_ENST00000401921.1_Silent_p.E313E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	354					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGAAGTGTGAGACGCAGACGC	0.483000													4	28					0	0	0.000602	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013374	142013374	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142013374G>A	ENST00000390357.3	+	0	258																											CTCTATAAATGAAAGTGTGCG	0.483000													184	22					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48552675	48552675	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48552675G>T	ENST00000537810.1	-	38	5171	c.4567C>A	c.(4567-4569)Cgg>Agg	p.R1523R	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000507711.1_Silent_p.R1523R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.R1523R|FRYL_ENST00000358350.4_Silent_p.R1523R			O94915	FRYL_HUMAN	FRY-like	1523					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGATGTTGCCGATTCAAATGA	0.363000													31	39					1.90571e-15	3.10125e-15	0.004289	1	0
FGFR4	2264	broad.mit.edu	37	5	176520541	176520541	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176520541C>T	ENST00000292408.4	+	10	1631	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	FGFR4_ENST00000292410.3_Silent_p.F422F|FGFR4_ENST00000502906.1_Silent_p.F462F|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Silent_p.F422F	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	462					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TATGGGAGTTCCCCCGGGACA	0.687000										TSP Lung(9;0.080)			51	29					0	0	0.003610	0	0
CTCFL	140690	broad.mit.edu	37	20	56083709	56083709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:56083709G>A	ENST00000429804.2	-	8	2037	c.1477C>T	c.(1477-1479)Ccg>Tcg	p.P493S	CTCFL_ENST00000422869.2_Missense_Mutation_p.P543S|CTCFL_ENST00000539382.1_Missense_Mutation_p.P338S|CTCFL_ENST00000422109.2_Missense_Mutation_p.P411L|CTCFL_ENST00000423479.2_Missense_Mutation_p.P543S|CTCFL_ENST00000432255.2_Missense_Mutation_p.P399S|CTCFL_ENST00000371196.2_Missense_Mutation_p.P543S|CTCFL_ENST00000243914.3_Missense_Mutation_p.P543S|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.P281S|CTCFL_ENST00000433949.2_Missense_Mutation_p.P543S	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	543					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TAAACAGTCGGGATGAAATTT	0.438000													25	197					0	0	0.004656	0	0
SUN5	140732	broad.mit.edu	37	20	31585481	31585481	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31585481A>T	ENST00000356173.3	-	6	445	c.353T>A	c.(352-354)tTt>tAt	p.F118Y	SUN5_ENST00000375523.3_Missense_Mutation_p.F93Y	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	118					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTGAATAGAAAACATCCAGAA	0.473000													22	48					0	0	0.002780	0	0
UNC5A	90249	broad.mit.edu	37	5	176306754	176306754	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176306754C>A	ENST00000329542.4	+	15	2670	c.2396C>A	c.(2395-2397)cCc>cAc	p.P799H	UNC5A_ENST00000261961.3_Missense_Mutation_p.P759H	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	799	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCCAGCCCCACAGCCATG	0.692000													11	50					4.68919e-08	7.58281e-08	0.000673	1	0
MAP1B	4131	broad.mit.edu	37	5	71490076	71490076	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71490076C>T	ENST00000296755.7	+	5	1192	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	298						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAAGCTCATCCGACACTTAG	0.493000													90	46					0	0	0.003610	0	0
CASS4	57091	broad.mit.edu	37	20	55020983	55020983	+	Missense_Mutation	SNP	C	C	T	rs139063252		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:55020983C>T	ENST00000371336.3	+	3	688	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CASS4_ENST00000434344.1_Missense_Mutation_p.R163W|CASS4_ENST00000360314.3_Missense_Mutation_p.R163W	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	163					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGACCTGTCCGGGCCTCACT	0.567000													29	30					0	0	0.003271	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129217	68129217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:68129217G>A	ENST00000585558.1	+	4	1482	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	KCNJ16_ENST00000392671.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000392670.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000283936.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000586462.1_Missense_Mutation_p.G369E|KCNJ16_ENST00000589377.1_Missense_Mutation_p.G330E			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	330					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CAGTTTGAAGGAAGTGTGGAA	0.453000													13	56					0	0	0.003163	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241034	134241034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:134241034C>T	ENST00000535456.2	+	13	1536	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R450W|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R450W|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	450					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGCATGATCGGGGGCAGGT	0.542000													16	24					0	0	0.006122	0	0
ALPK3	57538	broad.mit.edu	37	15	85410592	85410592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85410592C>T	ENST00000258888.5	+	13	5541	c.5374C>T	c.(5374-5376)Cga>Tga	p.R1792*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.R1792*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCAAACTCCGAGGGTGAGT	0.542000													44	47					0	0	0.003610	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	G	A	rs145373937		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:26734223G>A	ENST00000396005.3	-	2	679	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000													130	33					0	0	0.003610	0	0
ABCA8	10351	broad.mit.edu	37	17	66871789	66871789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66871789C>T	ENST00000269080.2	-	34	4473	c.4336G>A	c.(4336-4338)Gac>Aac	p.D1446N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1486N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1486N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1446	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCACTCGGTCACACACGGCC	0.557000													26	40					0	0	0.001786	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248381	14248381	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:14248381C>T	ENST00000360954.2	+	2	1027	c.591C>T	c.(589-591)acC>acT	p.T197T		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	197					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGCAGATCACCATGGAGAAGA	0.612000													7	5					0	0	0.004482	0	0
PALD1	27143	broad.mit.edu	37	10	72291208	72291208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291208G>A	ENST00000263563.6	+	5	899	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CATCCGGAAAGAGGTGAGGAC	0.617000													10	24					0	0	0.000673	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648850	57648850	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57648850G>A	ENST00000402412.1	-	24	3069	c.2679C>T	c.(2677-2679)acC>acT	p.T893T	R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000441731.2_Silent_p.T574T|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_Silent_p.T879T|R3HDM2_ENST00000393811.2_Silent_p.T606T|R3HDM2_ENST00000358907.2_Silent_p.T879T|R3HDM2_ENST00000403821.2_Silent_p.T913T			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	879						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCTCAGTACGGGTGATGCCCT	0.622000													16	146					0	0	0.007413	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424587	31424587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31424587C>T	ENST00000375571.5	+	4	554	c.415C>T	c.(415-417)Cct>Tct	p.P139S		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	139	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TGCAGTGGCTCCTTCCCTTGT	0.433000													38	79					0	0	0.002522	0	0
CUL9	23113	broad.mit.edu	37	6	43167691	43167691	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:43167691C>T	ENST00000252050.4	+	14	3265	c.3181C>T	c.(3181-3183)Cta>Tta	p.L1061L	CUL9_ENST00000372647.2_Silent_p.L1061L|CUL9_ENST00000354495.3_Silent_p.L951L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1061					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACCTGCTTCCTACATCGCCT	0.502000													80	15					0	0	0.003610	0	0
WSCD2	9671	broad.mit.edu	37	12	108634193	108634193	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:108634193A>T	ENST00000332082.4	+	9	2035	c.1217A>T	c.(1216-1218)aAa>aTa	p.K406I	WSCD2_ENST00000547525.1_Missense_Mutation_p.K406I|WSCD2_ENST00000261400.3_Missense_Mutation_p.K406I|WSCD2_ENST00000549903.1_Missense_Mutation_p.K406I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	406						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCGGCCAGAAAGAGATCGAG	0.602000													86	25					0	0	0.003610	0	0
ZNF681	148213	broad.mit.edu	37	19	23926753	23926753	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:23926753G>A	ENST00000402377.3	-	4	1740	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	ZNF681_ENST00000395385.3_Silent_p.P464P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACATGTGTAGGGTTTCTCTC	0.378000													10	41					0	0	0.000978	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087043	39087043	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39087043G>A	ENST00000400482.3	-	3	1006	c.417C>T	c.(415-417)ttC>ttT	p.F139F	KCNJ6_ENST00000288309.6_Silent_p.F139F	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	139					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AAGCAGAGACGAACCCGTTGA	0.453000													18	76					0	0	0.002299	0	0
NDC1	55706	broad.mit.edu	37	1	54254856	54254856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:54254856G>A	ENST00000371429.3	-	15	2247	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	NDC1_ENST00000234725.8_Missense_Mutation_p.S435F|NDC1_ENST00000537333.1_Missense_Mutation_p.S215F|NDC1_ENST00000540001.1_Silent_p.L513L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		AGCCTGAATGGAGGCCTCTGG	0.343000													18	30					0	0	0.002299	0	0
TNXB	7148	broad.mit.edu	37	6	32016312	32016312	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32016312G>A	ENST00000375244.3	-	29	10074	c.9873C>T	c.(9871-9873)tcC>tcT	p.S3291S	TNXB_ENST00000375247.2_Silent_p.S3289S			P22105	TENX_HUMAN	tenascin XB	3336	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTACCAGGAAGGAGTCAAAGG	0.726000													42	354					0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27026844	27026844	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27026844C>A	ENST00000314616.6	+	33	4777	c.4494C>A	c.(4492-4494)ggC>ggA	p.G1498G	SUPT6H_ENST00000347486.4_Silent_p.G1498G	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1498					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGTACCGGGGCCAGATCTTCC	0.493000													24	142					9.86323e-18	1.60706e-17	0.003954	1	0
PBRM1	55193	broad.mit.edu	37	3	52620570	52620570	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52620570G>A	ENST00000356770.4	-	19	3164	c.3162C>T	c.(3160-3162)gtC>gtT	p.V1054V	PBRM1_ENST00000409767.1_Silent_p.V1101V|PBRM1_ENST00000409114.3_Silent_p.V1101V|PBRM1_ENST00000409057.1_Silent_p.V1086V|PBRM1_ENST00000410007.1_Silent_p.V1061V|PBRM1_ENST00000337303.4_Silent_p.V1086V|PBRM1_ENST00000394830.3_Silent_p.V1061V|PBRM1_ENST00000296302.7_Silent_p.V1086V			Q86U86	PB1_HUMAN	polybromo 1	1086	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATCCCGAGGGACAAACCTGA	0.448000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								27	63					0	0	0.005443	0	0
ATF6	22926	broad.mit.edu	37	1	161761236	161761236	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161761236C>T	ENST00000367942.3	+	5	460	c.393C>T	c.(391-393)ccC>ccT	p.P131P		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	131	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AGATGTCTCCCCTTTCCTTAT	0.388000													20	70					0	0	0.002299	0	0
AKAP9	10142	broad.mit.edu	37	7	91730220	91730220	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:91730220C>T	ENST00000359028.2	+	45	11184	c.10959C>T	c.(10957-10959)gcC>gcT	p.A3653A	AKAP9_ENST00000358100.2_Silent_p.A3599A|AKAP9_ENST00000356239.3_Silent_p.A3649A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3653					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCATCATTGCCTCTGAAAAAG	0.408000			T	BRAF	papillary thyroid								35	111					0	0	0.001951	0	0
HHEX	3087	broad.mit.edu	37	10	94454438	94454438	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94454438C>T	ENST00000282728.5	+	4	2525	c.726C>T	c.(724-726)tcC>tcT	p.S242S	HHEX_ENST00000472590.2_Silent_p.S70S|HHEX_ENST00000492654.2_Silent_p.S70S	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	242					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						CCCCTGCCTCCCAGGAAGACC	0.458000													106	270					0	0	0.003610	0	0
DENND4C	55667	broad.mit.edu	37	9	19299242	19299242	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:19299242G>C	ENST00000380432.2	+	4	448	c.415G>C	c.(415-417)Gca>Cca	p.A139P	DENND4C_ENST00000602925.1_Missense_Mutation_p.A375P|DENND4C_ENST00000434457.2_Missense_Mutation_p.A375P|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	139	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTCCATGATGCATTAATATT	0.269000													7	4					0	0	0.006214	0	0
TLN2	83660	broad.mit.edu	37	15	63058592	63058592	+	Missense_Mutation	SNP	C	C	T	rs146711240		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:63058592C>T	ENST00000561311.1	+	40	5397	c.5167C>T	c.(5167-5169)Cgg>Tgg	p.R1723W	TLN2_ENST00000306829.6_Missense_Mutation_p.R1723W|TLN2_ENST00000472902.1_Missense_Mutation_p.R116W			Q9Y4G6	TLN2_HUMAN	talin 2	1723					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACAGCGGCTCGGGGAGAAGC	0.542000													15	44					0	0	0.006122	0	0
MRVI1	10335	broad.mit.edu	37	11	10602094	10602094	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10602094C>T	ENST00000547195.1	-	19	2630	c.2130G>A	c.(2128-2130)ctG>ctA	p.L710L	MRVI1_ENST00000552103.1_Silent_p.L710L|MRVI1_ENST00000436272.1_Silent_p.L774L|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Silent_p.L595L|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Silent_p.L486L|MRVI1_ENST00000527509.2_Silent_p.L710L|MRVI1_ENST00000534266.2_Silent_p.L486L|MRVI1_ENST00000421747.1_Silent_p.L792L|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.L801L|MRVI1_ENST00000531107.1_Silent_p.L793L|MRVI1_ENST00000545852.1_Silent_p.L486L|MRVI1_ENST00000424001.1_Silent_p.L486L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	774					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCTCCTCCTTCAGGTCTTGAA	0.493000													76	16					0	0	0.003610	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131337	52131337	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52131337C>T	ENST00000222107.4	-	5	885	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SIGLEC5_ENST00000429354.3_Silent_p.E249E|SIGLEC5_ENST00000599649.1_Silent_p.E249E|SIGLEC5_ENST00000570106.2_Silent_p.E249E|SIGLEC5_ENST00000534261.2_Silent_p.E249E			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	249	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTTGCAGGATCTCTAGGGCTT	0.602000													17	13					0	0	0.001216	0	0
DNTT	1791	broad.mit.edu	37	10	98095702	98095702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98095702G>A	ENST00000419175.1	+	10	1581	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	DNTT_ENST00000371174.2_Missense_Mutation_p.D472N	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	472	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATGATTCTGGATAACCATGC	0.443000													98	92					0	0	0.003610	0	0
C11orf30	56946	broad.mit.edu	37	11	76183643	76183643	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:76183643C>T	ENST00000529032.1	+	7	867	c.867C>T	c.(865-867)ttC>ttT	p.F289F	C11orf30_ENST00000525919.1_Silent_p.F290F|C11orf30_ENST00000334736.3_Silent_p.F289F|C11orf30_ENST00000525038.1_Silent_p.F304F|C11orf30_ENST00000524490.1_Silent_p.F290F|C11orf30_ENST00000343878.3_Silent_p.F289F|C11orf30_ENST00000524767.1_Silent_p.F304F|C11orf30_ENST00000533248.1_Silent_p.F303F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	289	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCAACCTTCGTGCCCAACA	0.388000													18	48					0	0	0.001523	0	0
TRAK1	22906	broad.mit.edu	37	3	42242542	42242542	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:42242542C>T	ENST00000327628.5	+	12	1823	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.L401L|TRAK1_ENST00000341421.3_Silent_p.L417L|TRAK1_ENST00000396175.1_Silent_p.L417L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	475	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCAGCCGACCTGGGGTGAGC	0.532000													11	40					0	0	0.000978	0	0
MICAL3	57553	broad.mit.edu	37	22	18301606	18301606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:18301606G>A	ENST00000441493.2	-	26	4173	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1274	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGGGTAGGGGATGGGACAGT	0.682000													18	34					0	0	0.006122	0	0
TRRAP	8295	broad.mit.edu	37	7	98547149	98547149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:98547149C>T	ENST00000359863.4	+	35	5086	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L	TRRAP_ENST00000446306.3_Missense_Mutation_p.P1607L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1608L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1626					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGTGCGCCCCGGTTCGCCC	0.647000													18	41					0	0	0.001216	0	0
LINC00336	401253	broad.mit.edu	37	6	33561001	33561001	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33561001G>A	ENST00000477984.1	-	0	114					NR_027908.1																						GGAACCAAGAGGTTGGCACCG	0.721000													7	10					0	0	0.003080	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299842	145299842	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145299842C>T	ENST00000342960.5	+	6	926	c.891C>T	c.(889-891)ccC>ccT	p.P297P	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.P26P|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	297										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AATTGCGCCCCCAGCTGGCAG	0.478000													50	347					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923456	9923456	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9923456G>A	ENST00000396573.2	-	10	2140	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	GRIN2A_ENST00000404927.2_Silent_p.L611L|GRIN2A_ENST00000396575.2_Silent_p.L611L|GRIN2A_ENST00000330684.3_Silent_p.L611L|GRIN2A_ENST00000535259.1_Silent_p.L454L|GRIN2A_ENST00000562109.1_Silent_p.L611L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	611					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAACACCAGGCCCCAAAGA	0.458000													16	56					0	0	0.006122	0	0
PRG4	10216	broad.mit.edu	37	1	186269233	186269233	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:186269233C>T	ENST00000445192.2	+	3	132	c.87C>T	c.(85-87)agC>agT	p.S29S	PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Silent_p.S29S|PRG4_ENST00000367486.3_Silent_p.S29S|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	29	SMB 1.				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						ATTTATCAAGCTGTGCAGGGA	0.438000													67	37					0	0	0.003610	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083671	42083671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42083671C>T	ENST00000187608.9	+	2	224	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.L62F|CEACAM21_ENST00000407170.2_5'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	62						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCCGAGAATCTTTACAGCTA	0.502000													15	39					0	0	0.003163	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376886	18376886	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18376886C>T	ENST00000392413.3	-	3	1679	c.1464G>A	c.(1462-1464)gtG>gtA	p.V488V	KIAA1683_ENST00000600328.2_Silent_p.V488V|KIAA1683_ENST00000600359.2_Silent_p.V442V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	488						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGGCTTGGTCACCCCAACTG	0.592000													24	45					0	0	0.006320	0	0
BTNL8	79908	broad.mit.edu	37	5	180338607	180338607	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180338607G>A	ENST00000231229.4	+	3	900	c.666G>A	c.(664-666)caG>caA	p.Q222Q	BTNL8_ENST00000508408.1_Silent_p.Q222Q|BTNL8_ENST00000505126.1_Silent_p.Q15Q|BTNL8_ENST00000400707.3_Silent_p.Q97Q|BTNL8_ENST00000533815.2_Silent_p.Q38Q|BTNL8_ENST00000340184.4_Silent_p.Q222Q|BTNL8_ENST00000511704.1_Silent_p.Q106Q	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	222	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGTACAGATAGGAGGTG	0.547000													14	56					0	0	0.002450	0	0
PSG6	5675	broad.mit.edu	37	19	43421912	43421912	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43421912C>T	ENST00000187910.2	-	1	98	c.33G>A	c.(31-33)caG>caA	p.Q11Q	PSG6_ENST00000402603.4_Silent_p.Q11Q|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Silent_p.Q11Q	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGTGATGTGCTGAGTGCAGG	0.597000													29	83					0	0	0.004878	0	0
COL20A1	57642	broad.mit.edu	37	20	61937319	61937319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61937319G>A	ENST00000422202.1	+	4	492	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	COL20A1_ENST00000435874.1_Missense_Mutation_p.G142R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G142R|COL20A1_ENST00000358894.6_Missense_Mutation_p.G142R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	142					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCCCACACGGGGAGCCCAGA	0.642000													6	57					0	0	0.001984	0	0
HRH3	11255	broad.mit.edu	37	20	60791640	60791640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60791640G>A	ENST00000340177.5	-	3	1044	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HRH3_ENST00000317393.6_Missense_Mutation_p.P254S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	254	Poly-Pro.				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCAGGCGGTGGGGGTGGTGAG	0.736000													11	12					0	0	0.000978	0	0
DISC1	27185	broad.mit.edu	37	1	232162271	232162271	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:232162271A>C	ENST00000439617.2	+	12	2451	c.2398A>C	c.(2398-2400)Atc>Ctc	p.I800L	DISC1_ENST00000366637.3_Missense_Mutation_p.I110L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	800	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACACAGCAATCCACAGTCA	0.378000													17	6					0	0	0.007413	0	0
OR2F2	135948	broad.mit.edu	37	7	143632574	143632574	+	Silent	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143632574A>C	ENST00000408955.2	+	1	316	c.249A>C	c.(247-249)gcA>gcC	p.A83A		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGCTGCTGGCACATTTTCTTG	0.522000													115	253					0	0	0.003610	0	0
MYO3B	140469	broad.mit.edu	37	2	171371488	171371488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171371488G>A	ENST00000334231.6	+	29	3455	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	MYO3B_ENST00000409044.3_Missense_Mutation_p.G1116E|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1143E|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1143					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						GGTACGAGGGGAAGTGCCGAG	0.498000													9	21					0	0	0.000978	0	0
BCAT1	586	broad.mit.edu	37	12	24985736	24985736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24985736C>T	ENST00000261192.7	-	9	1491	c.965G>A	c.(964-966)gGg>gAg	p.G322E	BCAT1_ENST00000539282.1_Missense_Mutation_p.G334E|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000342945.5_Missense_Mutation_p.G261E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G285E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G321E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	322					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTCTGTTCCCCTCCAGGGC	0.423000													8	18					0	0	0.004482	0	0
LAMB1	3912	broad.mit.edu	37	7	107576057	107576057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107576057C>T	ENST00000393561.1	-	25	4247	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1331T|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1331	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTCTGCCTCAAGAGAC	0.502000													189	20					0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236461	103236461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103236461C>T	ENST00000233969.2	+	1	296	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	52						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCGCCTAGCCCTGCGAGCGT	0.682000													8	11					0	0	0.006214	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716179	13716179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:13716179C>T	ENST00000279593.3	-	13	4202	c.3993G>A	c.(3991-3993)atG>atA	p.M1331I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1331					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCCCATCCATGAATCGGC	0.607000													9	42					0	0	0.004482	0	0
RGPD8	727851	broad.mit.edu	37	2	113147112	113147112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113147112G>A	ENST00000302558.3	-	20	3601	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	RGPD8_ENST00000409750.1_Missense_Mutation_p.S997F	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						ATCACCATCAGAGAAATCACT	0.453000													25	266					0	0	0.005524	0	0
CRLF1	9244	broad.mit.edu	37	19	18707840	18707840	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18707840G>A	ENST00000392386.3	-	5	910	c.717C>T	c.(715-717)ccC>ccT	p.P239P		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	239	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTGCACGTCGGGCGGGGGGT	0.672000													12	17					0	0	0.001368	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351431	40351431	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40351431G>A	ENST00000310169.2	+	4	1037	c.898_splice	c.e4+1	p.G300_splice		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	300					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCCCTGATAGGTGAGTCCAA	0.488000													29	38					0	0	0.003271	0	0
MUC17	140453	broad.mit.edu	37	7	100677939	100677939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100677939C>T	ENST00000306151.4	+	3	3306	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1081	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGCCAGTTCATCTTCTACA	0.512000													536	1355					0	0	0.003610	0	0
NR6A1	2649	broad.mit.edu	37	9	127298175	127298175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127298175G>A	ENST00000487099.2	-	7	1218	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	NR6A1_ENST00000373584.3_Missense_Mutation_p.S350F|NR6A1_ENST00000344523.4_Missense_Mutation_p.S353F|NR6A1_ENST00000416460.2_Missense_Mutation_p.S349F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	354					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TTCTTCATCGGAGGGCGAGTA	0.532000													31	99					0	0	0.003271	0	0
DNPEP	23549	broad.mit.edu	37	2	220239721	220239721	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220239721G>A	ENST00000273075.4	-	14	1483	c.1263C>T	c.(1261-1263)acC>acT	p.T421T	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.T429T|DNPEP_ENST00000373972.1_Silent_p.T346T	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	411					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)	TTCCACAGGGGGTGTCATTCC	0.567000													9	13					0	0	0.000673	0	0
CDHR2	54825	broad.mit.edu	37	5	176019740	176019740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176019740G>A	ENST00000510636.1	+	31	4025	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D1251N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D1251N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1251					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCCTGGACGACAACTCTGT	0.547000													74	17					0	0	0.003610	0	0
AGAP3	116988	broad.mit.edu	37	7	150835376	150835376	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150835376C>T	ENST00000397238.2	+	12	1642	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	512	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CACCACTTCCCTGCCCCCAGG	0.677000													33	4					0	0	0.006999	0	0
PTPRF	5792	broad.mit.edu	37	1	44083121	44083121	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44083121C>T	ENST00000359947.4	+	24	4417	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I718I|PTPRF_ENST00000438120.1_Silent_p.I1350I|PTPRF_ENST00000372413.3_Silent_p.I1350I|PTPRF_ENST00000372414.3_Silent_p.I1359I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1359	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCAGTCCATCGACCCTGGAC	0.567000													13	29					0	0	0.002450	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167055571G>A	ENST00000375387.4	-	27	5921	c.5581C>T	c.(5581-5583)Cgt>Tgt	p.R1861C	SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1861C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1860						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTGTGAACGAAGAGAATCC	0.453000													42	60					0	0	0.002852	0	0
CHAT	1103	broad.mit.edu	37	10	50860052	50860052	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50860052G>A	ENST00000395562.2	+	12	1857	c.1388_splice	c.e12+1	p.R463_splice	CHAT_ENST00000351556.3_Splice_Site_p.R427_splice|CHAT_ENST00000455728.2_Splice_Site_p.R427_splice|CHAT_ENST00000339797.1_Splice_Site_p.R427_splice|CHAT_ENST00000395559.2_Splice_Site_p.R427_splice|CHAT_ENST00000337653.2_Splice_Site_p.R545_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	545					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCTTCTACAGGTGAGTGAAG	0.512000													11	22					0	0	0.000978	0	0
PDE6C	5146	broad.mit.edu	37	10	95380735	95380735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:95380735C>T	ENST00000371447.3	+	3	859	c.721C>T	c.(721-723)Cag>Tag	p.Q241*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	241					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCGAAGAAGCCAGGTAAAAGG	0.468000													54	162					0	0	0.003610	0	0
PGR	5241	broad.mit.edu	37	11	100999107	100999107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:100999107G>A	ENST00000325455.5	-	1	2148	c.695C>T	c.(694-696)tCt>tTt	p.S232F	PGR_ENST00000263463.5_Missense_Mutation_p.S232F|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	232	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGGACCCGCAGACTCCTCGGA	0.721000													5	18					0	0	0.000602	0	0
EYA4	2070	broad.mit.edu	37	6	133833883	133833883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:133833883G>A	ENST00000367895.5	+	15	1770	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	EYA4_ENST00000355286.6_Missense_Mutation_p.D413N|EYA4_ENST00000355167.3_Missense_Mutation_p.D436N|EYA4_ENST00000452339.2_Missense_Mutation_p.D382N|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.D436N|EYA4_ENST00000430974.2_Missense_Mutation_p.D388N|EYA4_ENST00000525849.1_Missense_Mutation_p.D413N|EYA4_ENST00000531901.1_Missense_Mutation_p.D442N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	436					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCATATAGATGATGTTTCCTC	0.368000													36	16					0	0	0.005524	0	0
TLE4	7091	broad.mit.edu	37	9	82324572	82324572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:82324572C>T	ENST00000376520.4	+	15	2222	c.1394C>T	c.(1393-1395)cCa>cTa	p.P465L	TLE4_ENST00000376544.3_Missense_Mutation_p.P364L|TLE4_ENST00000376552.2_Missense_Mutation_p.P433L|TLE4_ENST00000265284.6_Missense_Mutation_p.P408L|TLE4_ENST00000376534.4_Missense_Mutation_p.P70L|TLE4_ENST00000376537.4_Missense_Mutation_p.P465L			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATGCGTGTGCCAGCAATACCT	0.458000													13	21					0	0	0.004007	0	0
HRH4	59340	broad.mit.edu	37	18	22056938	22056938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:22056938G>A	ENST00000256906.4	+	3	685	c.585G>A	c.(583-585)atG>atA	p.M195I	HRH4_ENST00000426880.2_Missense_Mutation_p.M107I	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	195						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ATTTCAACATGAATATTTATT	0.438000													30	89					0	0	0.001786	0	0
FAM135A	57579	broad.mit.edu	37	6	71190694	71190694	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:71190694C>T	ENST00000418814.2	+	9	1247	c.633C>T	c.(631-633)gtC>gtT	p.V211V	FAM135A_ENST00000361499.3_Silent_p.V211V|FAM135A_ENST00000457062.2_Silent_p.V168V|FAM135A_ENST00000505868.1_Silent_p.V211V|FAM135A_ENST00000505769.1_Silent_p.V211V|FAM135A_ENST00000370479.3_Silent_p.V168V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	211										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAGTGTGGTCTTTGGTATTA	0.343000													37	9					0	0	0.007835	0	0
DSCAM	1826	broad.mit.edu	37	21	41711233	41711233	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41711233C>A	ENST00000400454.1	-	7	1797	c.1320G>T	c.(1318-1320)tgG>tgT	p.W440C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	440	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTCCAGGGTCCACGTGATCG	0.537000													7	34					0.00448238	0.00716665	0.004482	1	0
OR12D3	81797	broad.mit.edu	37	6	29342738	29342738	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29342738C>T	ENST00000396806.3	-	1	330	c.327G>A	c.(325-327)gaG>gaA	p.E109E	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTAAAATGGCCTCTGTGCTTC	0.493000													51	16					0	0	0.003610	0	0
GNAT3	346562	broad.mit.edu	37	7	80091847	80091847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:80091847C>T	ENST00000398291.3	-	6	784	c.691G>A	c.(691-693)Gac>Aac	p.D231N	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	231					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						AGGACCATGTCATAGGCACTA	0.403000													126	8					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270786	233270786	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233270786G>A	ENST00000258229.8	-	21	4044	c.3810C>T	c.(3808-3810)ttC>ttT	p.F1270F	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F403F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1270						integral to membrane		p.F1270F(1)		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)				ACACCATGAAGAAATCCAGTA	0.338000													45	39					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100684356	100684356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100684356G>A	ENST00000306151.4	+	3	9723	c.9659G>A	c.(9658-9660)gGa>gAa	p.G3220E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3220	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAATGACTCCA	0.493000													196	424					0	0	0.003610	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189534	92189534	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:92189534C>T	ENST00000256343.3	-	4	325		c.e4-1			NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACTGGATTTTCTTTAGGAAAG	0.353000													15	5					0	0	0.002450	0	0
PHRF1	57661	broad.mit.edu	37	11	587401	587401	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:587401C>A	ENST00000264555.5	+	4	485	c.357C>A	c.(355-357)gcC>gcA	p.A119A	PHRF1_ENST00000413872.2_Silent_p.A118A|PHRF1_ENST00000416188.2_Silent_p.A119A|PHRF1_ENST00000533464.1_Silent_p.A115A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	119							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGACCAGGCCGTGGGGACGC	0.552000													22	20					1.66031e-10	2.69204e-10	0.003954	1	0
PHKA1	5255	broad.mit.edu	37	X	71915728	71915728	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:71915728T>A	ENST00000373545.3	-	4	724		c.e4-2		PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTTATCCACCTGAAAAGAACA	0.358000													65	8					0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	6997782	6997782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6997782C>T	ENST00000389658.3	-	33	4858	c.4765G>A	c.(4765-4767)Gga>Aga	p.G1589R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1589	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACAAAATTCCATATGGGACA	0.408000													39	9					0	0	0.002222	0	0
TRMT1	55621	broad.mit.edu	37	19	13227068	13227068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13227068G>A	ENST00000592062.1	-	3	716	c.146C>T	c.(145-147)cCa>cTa	p.P49L	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.P49L|TRMT1_ENST00000221504.8_Missense_Mutation_p.P49L|TRMT1_ENST00000437766.1_Missense_Mutation_p.P49L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	49							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTTCACGTGGACGTTCTTC	0.587000													19	59					0	0	0.002780	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298036	38298036	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:38298036C>T	ENST00000260630.3	-	3	1862	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	CYP1B1_ENST00000407341.1_Silent_p.L487L|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	487					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACTGGTGAGCCAGGATGGAGA	0.443000													17	34					0	0	0.001216	0	0
PCDH15	65217	broad.mit.edu	37	10	55582628	55582628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:55582628C>T	ENST00000361849.3	-	34	5258	c.4864G>A	c.(4864-4866)Ggt>Agt	p.G1622S	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1597S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1617S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1620S|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1580S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1551S	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1620					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCTGCTACCTCTTTTGTTT	0.413000										HNSCC(58;0.16)			62	57					0	0	0.003610	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612796	228612796	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:228612796C>T	ENST00000366696.1	-	1	230	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	77					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TCTTAAAGTCCTGAGCGATCT	0.627000													37	96					0	0	0.004878	0	0
MYH8	4626	broad.mit.edu	37	17	10299737	10299737	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10299737C>T	ENST00000403437.2	-	33	4657	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1521					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTTCCTCCCTCTGCAATCT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	9					0	0	0.001882	0	0
ARID5B	84159	broad.mit.edu	37	10	63850952	63850952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:63850952C>T	ENST00000279873.7	+	10	2140	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	ARID5B_ENST00000309334.5_Missense_Mutation_p.S334F	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	577					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAACAAGAATCCAAACTGTGC	0.547000													17	36					0	0	0.001882	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297746	139297746	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:139297746C>T	ENST00000406164.1	-	4	713	c.150G>A	c.(148-150)caG>caA	p.Q50Q	NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000296202.7_Silent_p.Q87Q|NMNAT3_ENST00000512391.1_Silent_p.Q87Q|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000339837.5_Silent_p.Q50Q|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.Q50Q			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	87					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TCCACTGTGCCTGCTCACTCT	0.592000													11	26					0	0	0.001855	0	0
A2M	2	broad.mit.edu	37	12	9231867	9231867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:9231867C>T	ENST00000318602.7	-	25	3399	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1031					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGCCATATCGCTCCCCAAA	0.413000													33	20					0	0	0.004289	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813454	101813454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:101813454C>T	ENST00000506729.1	-	3	899	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G243E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	243						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAGGCATTCCTGCTATTCC	0.408000													23	87					0	0	0.003330	0	0
PARP9	83666	broad.mit.edu	37	3	122269585	122269585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:122269585G>A	ENST00000462315.1	-	6	1465	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PARP9_ENST00000477522.2_Missense_Mutation_p.S391F|PARP9_ENST00000471785.1_Missense_Mutation_p.S391F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.S426F	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	426	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCAGGAAAGGAAATGGAAGT	0.348000													13	28					0	0	0.003163	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620102	40620102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40620102C>T	ENST00000343619.4	+	4	394	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P91S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	91					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGTTCCCTTCCCCCGGGACAT	0.398000													10	30					0	0	0.001855	0	0
WDR96	80217	broad.mit.edu	37	10	105945794	105945794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105945794C>T	ENST00000357060.3	-	15	2063	c.1948G>A	c.(1948-1950)Gga>Aga	p.G650R	WDR96_ENST00000428666.1_Missense_Mutation_p.G651R|WDR96_ENST00000278064.2_Missense_Mutation_p.G581R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	650										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCACAATCCATGTGAAGAC	0.373000													41	49					0	0	0.003610	0	0
FGD3	89846	broad.mit.edu	37	9	95782638	95782638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:95782638G>A	ENST00000375482.3	+	13	1922	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	FGD3_ENST00000416701.2_Missense_Mutation_p.E476K|FGD3_ENST00000337352.6_Missense_Mutation_p.E476K|FGD3_ENST00000538555.1_Missense_Mutation_p.E79K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	476					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAGAACAGCGAAACCTTCAA	0.567000													8	12					0	0	0.004482	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815106	1815106	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:1815106C>T	ENST00000250894.4	+	20	2527	c.2370C>T	c.(2368-2370)gcC>gcT	p.A790A	MAPK8IP3_ENST00000356010.5_Silent_p.A784A	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	790					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCATCGACGCCAACCAGCCGG	0.632000													12	27					0	0	0.000978	0	0
OR4A47	403253	broad.mit.edu	37	11	48510680	48510680	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:48510680C>T	ENST00000446524.1	+	1	412	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGGTCTTTCTCCTGTTGGTGA	0.458000													44	11					0	0	0.003214	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693262	187693262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187693262C>T	ENST00000295131.2	-	9	1390	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	451					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTATTCAATTCATCAAAATTA	0.294000													10	25					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76526474	76526474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76526474G>A	ENST00000389840.5	-	21	3359	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1076C					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGCCCCAGCGCCGGATTGTG	0.617000													5	42					0	0	0.001168	0	0
PCDH12	51294	broad.mit.edu	37	5	141334755	141334755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141334755C>T	ENST00000231484.3	-	1	3872	c.2662G>A	c.(2662-2664)Ggg>Agg	p.G888R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	888					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCCTCCCTGTGGGGCTG	0.647000													16	23					0	0	0.006122	0	0
PSG9	5678	broad.mit.edu	37	19	43762595	43762595	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43762595G>A	ENST00000244293.7	-	4	789	c.723C>T	c.(721-723)ctC>ctT	p.L241L	PSG9_ENST00000593948.1_Silent_p.L241L|PSG9_ENST00000418820.2_Silent_p.L241L|PSG9_ENST00000596730.1_Silent_p.L148L|PSG9_ENST00000443718.3_Silent_p.L241L|PSG9_ENST00000270077.3_Silent_p.L334L|PSG9_ENST00000291752.5_Silent_p.L148L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	239					female pregnancy	extracellular region		p.L334L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAATTCTGGGGAGGTCTGGAC	0.488000													52	153					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10951333	10951333	+	Missense_Mutation	SNP	G	G	A	rs148393004		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10951333G>A	ENST00000298232.7	-	9	692	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	TPTE_ENST00000361285.4_Missense_Mutation_p.R127C|TPTE_ENST00000342420.5_Missense_Mutation_p.R89C|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R109C(1)		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)		GAAATAGAACGATACTCCAAA	0.338000													22	61					0	0	0.001523	0	0
SEMA6B	10501	broad.mit.edu	37	19	4554460	4554460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4554460C>T	ENST00000586582.1	-	9	1021	c.711G>A	c.(709-711)tgG>tgA	p.W237*	SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.W237*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.W237*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	237	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)		CATGGCTGCCCCACTCCACCG	0.557000													23	32					0	0	0.003954	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652848	115652848	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115652848C>T	ENST00000374228.4	-	1	345	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	38						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGAGTAGCCCCGCATCGTAGA	0.687000													18	34					0	0	0.001882	0	0
KIF3C	3797	broad.mit.edu	37	2	26204327	26204327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26204327G>A	ENST00000264712.3	-	1	1039	c.460C>T	c.(460-462)Cga>Tga	p.R154*	KIF3C_ENST00000405914.1_Nonsense_Mutation_p.R154*	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	154	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGGTCTCGAATCTCTTCC	0.557000													42	33					0	0	0.007835	0	0
KIF17	57576	broad.mit.edu	37	1	21009190	21009190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21009190C>T	ENST00000247986.2	-	11	2729	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	KIF17_ENST00000375044.1_Missense_Mutation_p.E707K|KIF17_ENST00000400463.3_Missense_Mutation_p.E807K|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	807					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCCGCACTTCCTCCTGGATG	0.637000													13	31					0	0	0.002450	0	0
OR5B3	441608	broad.mit.edu	37	11	58170031	58170031	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170031G>A	ENST00000309403.2	-	1	851	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACCAGAGGGTTCAGCATGG	0.433000													32	74					0	0	0.002836	0	0
ZFP37	7539	broad.mit.edu	37	9	115811738	115811738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:115811738C>T	ENST00000374227.3	-	3	280	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ZFP37_ENST00000555206.1_Missense_Mutation_p.E86K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E100K			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	85	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCTCCTTTTTCCAACTTGGAG	0.453000													5	11					0	0	0.001168	0	0
KCNH3	23416	broad.mit.edu	37	12	49934911	49934911	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49934911G>A	ENST00000257981.6	+	2	566	c.306G>A	c.(304-306)aaG>aaA	p.K102K	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	102	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACCGGAAGAGCGGTGAGG	0.612000													5	49					0	0	0.000602	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													33	175					0	0	0.003755	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447119	22447119	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22447119G>A	ENST00000390443.3	+	0	320																											CCCTGTCTTTGAAGAAGCCCC	0.478000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	113					0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216293030	216293030	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:216293030G>A	ENST00000354785.4	-	6	1086	c.717C>T	c.(715-717)tcC>tcT	p.S239S	FN1_ENST00000356005.4_Silent_p.S239S|FN1_ENST00000359671.1_Silent_p.S239S|FN1_ENST00000336916.4_Silent_p.S239S|FN1_ENST00000323926.6_Silent_p.S239S|FN1_ENST00000346544.3_Silent_p.S239S|FN1_ENST00000426059.1_Silent_p.S239S|FN1_ENST00000421182.1_Silent_p.S239S|FN1_ENST00000345488.5_Silent_p.S239S|FN1_ENST00000357009.2_Silent_p.S239S|FN1_ENST00000357867.4_Silent_p.S239S|FN1_ENST00000443816.1_Silent_p.S239S|FN1_ENST00000446046.1_Silent_p.S239S|FN1_ENST00000432072.2_Silent_p.S239S			P02751	FINC_HUMAN	fibronectin 1	239	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATTCTATAGGATGTCCTTG	0.478000													17	31					0	0	0.001216	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303846	151303846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:151303846G>A	ENST00000370323.4	-	4	563	c.247C>T	c.(247-249)Cct>Tct	p.P83S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P83S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGGAGGATTTGGTGTC	0.542000													103	15					0	0	0.003610	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024435	161024435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161024435C>T	ENST00000368013.3	-	4	726	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E136K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	136	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAGGGAGTTCCCGAAGCACC	0.522000													27	101					0	0	0.001786	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296553	39296553	+	Missense_Mutation	SNP	G	G	A	rs73983172	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39296553G>A	ENST00000345847.4	-	1	186	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	63	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagcagctgggacggcagcAG	0.667000													32	50					0	0	0.003755	0	0
SV2B	9899	broad.mit.edu	37	15	91811704	91811704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:91811704G>A	ENST00000394232.1	+	9	1712	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	SV2B_ENST00000330276.4_Missense_Mutation_p.M414I|SV2B_ENST00000545111.2_Missense_Mutation_p.M263I	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	414					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCCTGATATGATCCGCTATT	0.413000													254	325					0	0	0.003610	0	0
DZIP3	9666	broad.mit.edu	37	3	108409671	108409671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108409671C>T	ENST00000361582.3	+	32	3784	c.3554C>T	c.(3553-3555)cCa>cTa	p.P1185L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P1185L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1185					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGGACATGTCCAACGTGCAGA	0.502000													26	69					0	0	0.002445	0	0
CPNE7	27132	broad.mit.edu	37	16	89661997	89661997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89661997C>T	ENST00000268720.5	+	16	1880	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.R509W	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	584					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CGTGCCCTTCCGGGAGCTCAA	0.667000													16	34					0	0	0.004007	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816342	23816342	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23816342G>A	ENST00000354772.3	-	9	1745	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	SLC22A17_ENST00000397260.3_Silent_p.L303L|SLC22A17_ENST00000397267.1_Silent_p.L432L|SLC22A17_ENST00000206544.8_Silent_p.L432L|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	432					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCAGCAAGGAGGGTGCTGA	0.657000													7	25					0	0	0.003080	0	0
GALK1	2584	broad.mit.edu	37	17	73758813	73758813	+	Silent	SNP	G	G	A	rs146095595		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:73758813G>A	ENST00000588479.1	-	5	1339	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GALK1_ENST00000225614.2_Silent_p.L255L|GALK1_ENST00000437911.1_Silent_p.L285L			P51570	GALK1_HUMAN	galactokinase 1	255					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCTCCCGGAGGCTTTCCT	0.637000													26	34					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9074217	9074217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9074217G>A	ENST00000397910.4	-	3	13432	c.13229C>T	c.(13228-13230)cCt>cTt	p.P4410L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4412	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCAAGTAAGGCATGGTTGA	0.473000													46	122					0	0	0.003610	0	0
RGS7	6000	broad.mit.edu	37	1	240975259	240975259	+	Silent	SNP	G	G	A	rs114051974	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240975259G>A	ENST00000366565.1	-	14	1422	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	RGS7_ENST00000366564.1_Silent_p.F347F|RGS7_ENST00000446183.2_Silent_p.F263F|RGS7_ENST00000348120.2_Silent_p.F294F|RGS7_ENST00000331110.7_Silent_p.F321F|RGS7_ENST00000407727.1_Silent_p.F347F|RGS7_ENST00000401882.1_Silent_p.F294F|RGS7_ENST00000366562.4_Silent_p.F347F|RGS7_ENST00000366563.1_Silent_p.F347F	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	347	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAAATTTAAGGAACTGTTCTC	0.418000													23	72					0	0	0.002299	0	0
VIT	5212	broad.mit.edu	37	2	37035815	37035815	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:37035815C>T	ENST00000379242.3	+	15	1892	c.1590C>T	c.(1588-1590)ctC>ctT	p.L530L	VIT_ENST00000389975.3_Silent_p.L515L|VIT_ENST00000404084.1_Silent_p.L467L|VIT_ENST00000379241.3_Silent_p.L493L|VIT_ENST00000497382.1_Silent_p.L184L|VIT_ENST00000401530.1_Silent_p.L494L	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	515	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCACCGTCCTCCAGTTTGTGA	0.597000													10	30					0	0	0.000673	0	0
TLL1	7092	broad.mit.edu	37	4	166976255	166976255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:166976255G>A	ENST00000061240.2	+	13	2199	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	TLL1_ENST00000507499.1_Missense_Mutation_p.D541N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	518	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTGCTTATGACTACCTGGA	0.343000													33	37					0	0	0.004878	0	0
NR5A1	2516	broad.mit.edu	37	9	127262369	127262369	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127262369C>A	ENST00000373588.4	-	4	1066	c.870_splice	c.e4+1	p.E290_splice		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	290	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGAGACTCACCTCCAGCTCCT	0.642000													12	34					2.31682e-05	3.7311e-05	0.003163	1	0
RBP3	5949	broad.mit.edu	37	10	48389674	48389674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48389674C>T	ENST00000224600.4	-	1	1317	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	402	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGCAGCGTCGGGCGCGGGC	0.652000													16	39					0	0	0.004990	0	0
NLRP7	199713	broad.mit.edu	37	19	55439120	55439120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55439120G>A	ENST00000446217.1	-	12	3320	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	NLRP7_ENST00000448121.2_Missense_Mutation_p.P917L|NLRP7_ENST00000592784.1_Missense_Mutation_p.P945L|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.P945L|NLRP7_ENST00000328092.5_Missense_Mutation_p.P917L|NLRP7_ENST00000340844.2_Intron			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAATAGAAAGGCATGAGGGA	0.493000													47	66					0	0	0.003610	0	0
OR51E2	81285	broad.mit.edu	37	11	4703801	4703801	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4703801G>A	ENST00000396950.3	-	2	380	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCGTCCTTACGATGAAGACCA	0.512000													12	37					0	0	0.001368	0	0
MYL6	4637	broad.mit.edu	37	12	56553498	56553498	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56553498G>A	ENST00000551589.1	+	3	192	c.159G>A	c.(157-159)ggG>ggA	p.G53G	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000348108.4_Silent_p.G54G|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000536128.1_Silent_p.G146G|MYL6_ENST00000548293.1_Silent_p.G53G|MYL6_ENST00000547408.1_Silent_p.G53G|MYL6_ENST00000550697.1_Silent_p.G53G|MYL6_ENST00000547649.1_Silent_p.G53G|MYL6_ENST00000293422.5_Silent_p.G54G			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	53					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGTCCTGGGGAACCCCAAGA	0.562000													34	10					0	0	0.003755	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43947864	43947864	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43947864T>A	ENST00000282406.4	+	16	2627	c.2517T>A	c.(2515-2517)taT>taA	p.Y839*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	839	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGACATTATATTATTTTCGGA	0.318000													327	245					0	0	0.003610	0	0
IDH3A	3419	broad.mit.edu	37	15	78458576	78458576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78458576C>T	ENST00000299518.2	+	10	1032	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	IDH3A_ENST00000441490.2_Missense_Mutation_p.H208Y|IDH3A_ENST00000559205.1_Missense_Mutation_p.H38Y|IDH3A_ENST00000558554.1_Missense_Mutation_p.H282Y|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000561366.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	317					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GATGCTGCGCCACATGGGACT	0.507000													93	125					0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123845315	123845315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:123845315G>A	ENST00000369005.1	+	4	3640	c.3300G>A	c.(3298-3300)atG>atA	p.M1100I	TACC2_ENST00000453444.2_Missense_Mutation_p.M1100I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.M1100I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M1100I|TACC2_ENST00000515603.1_Missense_Mutation_p.M1100I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1100						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGAAAATGGAGTGCTGGG	0.617000													27	18					0	0	0.001786	0	0
LEPR	3953	broad.mit.edu	37	1	66102367	66102367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:66102367G>A	ENST00000349533.6	+	20	3352	c.3167G>A	c.(3166-3168)gGa>gAa	p.G1056E	LEPR_ENST00000406510.3_Missense_Mutation_p.G123E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1056					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCTCAGAAGGATTGGATGAA	0.363000													42	80					0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280373	32280373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32280373C>T	ENST00000360482.2	-	2	691	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SPOCD1_ENST00000373648.2_Missense_Mutation_p.E188K|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E188K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	188					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGGGGCTCCTCTTTGCTG	0.592000													16	30					0	0	0.004990	0	0
LAMA1	284217	broad.mit.edu	37	18	6983119	6983119	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6983119C>T	ENST00000389658.3	-	40	5868	c.5775G>A	c.(5773-5775)agG>agA	p.R1925R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1925	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTCACAGTCCTGTGAGCAT	0.512000													36	9					0	0	0.001951	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598346	46598346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46598346G>A	ENST00000398637.5	-	10	1368	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SLC38A1_ENST00000549049.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S225F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAGCTCAAGGAAAATCCACT	0.294000													34	166					0	0	0.006230	0	0
GABRA2	2555	broad.mit.edu	37	4	46252555	46252555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:46252555G>A	ENST00000510861.1	-	10	1299	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	GABRA2_ENST00000540012.1_Missense_Mutation_p.P381S|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376S|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376S|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376S|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAGATTCGGGGCATAATTG	0.423000													26	63					0	0	0.003330	0	0
IL13RA2	3598	broad.mit.edu	37	X	114245314	114245314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:114245314G>A	ENST00000371936.1	-	7	848	c.599C>T	c.(598-600)cCc>cTc	p.P200L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.P200L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	200	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CTCCAAATAGGGAAATCTGCA	0.368000													41	6					0	0	0.006230	0	0
MLH3	27030	broad.mit.edu	37	14	75514786	75514786	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:75514786G>A	ENST00000355774.2	-	2	1788	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L	MLH3_ENST00000556257.1_Silent_p.L525L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.L525L|MLH3_ENST00000556740.1_Silent_p.L525L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	525					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATATTTCTAGATCCTGCCCA	0.378000								Mismatch excision repair (MMR)					46	6					0	0	0.003610	0	0
MCC	4163	broad.mit.edu	37	5	112419847	112419847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:112419847G>A	ENST00000302475.4	-	8	1579	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S529L|MCC_ENST00000515367.2_Missense_Mutation_p.S276L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	339					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATGATGACGATTCGGACCT	0.443000													24	111					0	0	0.004656	0	0
COL15A1	1306	broad.mit.edu	37	9	101787237	101787237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101787237G>A	ENST00000375001.3	+	15	2359	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	646	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGACCCCCTGGATCTCCTGG	0.572000													11	27					0	0	0.001368	0	0
GALNT5	11227	broad.mit.edu	37	2	158157239	158157239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:158157239C>T	ENST00000259056.4	+	7	2652	c.2167C>T	c.(2167-2169)Cat>Tat	p.H723Y		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	723	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCGAGTGGGCCATATATTCAG	0.458000													28	56					0	0	0.002096	0	0
PLCL1	5334	broad.mit.edu	37	2	198950925	198950925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:198950925G>A	ENST00000428675.1	+	2	3082	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R797Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	895					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATCCATTACGAGAAGCCATA	0.388000													9	8					0	0	0.000673	0	0
ANKRD28	23243	broad.mit.edu	37	3	15720984	15720984	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15720984C>A	ENST00000399451.2	-	22	2753	c.2387_splice	c.e22+1	p.V796_splice	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Splice_Site_p.V829_splice	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	796						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTTACTTACACGGCACAATGC	0.378000													18	36					5.03518e-11	8.17007e-11	0.007413	1	0
CCT6P1	643253	broad.mit.edu	37	7	65228327	65228327	+	RNA	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:65228327G>C	ENST00000442266.1	+	0	1301																											AATCTTCTCTGAAAGGTTGAA	0.413000													14	157					0	0	0.002450	0	0
RBP3	5949	broad.mit.edu	37	10	48389873	48389873	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48389873C>T	ENST00000224600.4	-	1	1118	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	335	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTTCAGGACCTCCTGGAGGC	0.647000													8	17					0	0	0.003080	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248737528C>T	ENST00000328782.2	-	1	552	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TCAGGATTTTCCTAGACTGGC	0.527000													52	32					0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10071421	10071421	+	Missense_Mutation	SNP	C	C	T	rs141508267	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10071421C>T	ENST00000264828.3	-	66	5082	c.4997G>A	c.(4996-4998)aGc>aAc	p.S1666N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1666	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCGGAGTGGCTGTAGTCACC	0.597000													11	47					0	0	0.000673	0	0
LILRA2	11027	broad.mit.edu	37	19	55086387	55086387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55086387C>T	ENST00000251377.3	+	5	675	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCCATCTTCTCCGTGGGCCCC	0.567000													56	91					0	0	0.003610	0	0
ABHD8	79575	broad.mit.edu	37	19	17411956	17411956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17411956G>A	ENST00000247706.3	-	2	709	c.470C>T	c.(469-471)aCc>aTc	p.T157I	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	157							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AATATGGATGGTCCTCTTGGG	0.687000													39	29					0	0	0.006230	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36125019	36125019	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:36125019G>A	ENST00000258840.6	-	29	4503	c.4113C>T	c.(4111-4113)tcC>tcT	p.S1371S	RALGAPA1_ENST00000389698.3_Silent_p.S1324S|RALGAPA1_ENST00000382366.3_Silent_p.S1337S|RALGAPA1_ENST00000307138.6_Silent_p.S1324S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1324	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACCTTTAAGGAAACACAAA	0.308000													27	104					0	0	0.001786	0	0
PCDHA9	9752	broad.mit.edu	37	5	140362134	140362134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140362134C>T	ENST00000532602.1	+	3	3561	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	PCDHA2_ENST00000526136.1_Missense_Mutation_p.S841F|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S829F|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S840F|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S841F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S579F|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S829F|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S843F|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S900F|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S840F|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S842F|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S843F|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S843F|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S579F|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S843F|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S843F|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S578F|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S834F|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S843F|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S830F|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S856F	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACAGTATCCAGTGCAACA	0.493000													8	41					0	0	0.004482	0	0
GNAS	2778	broad.mit.edu	37	20	57415767	57415767	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:57415767G>A	ENST00000313949.7	+	1	995	c.606G>A	c.(604-606)agG>agA	p.R202R	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.R202R|GNAS_ENST00000371098.2_Silent_p.R202R|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	326					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGATCCAAGGGACCCCGAAG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	23					0	0	0.000602	0	0
OR2T2	401992	broad.mit.edu	37	1	248616175	248616175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248616175G>A	ENST00000342927.3	+	1	99	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GCCTTCCCCGGGCTTCTCTTT	0.542000													31	278					0	0	0.004878	0	0
CCDC147	159686	broad.mit.edu	37	10	106160635	106160635	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:106160635G>A	ENST00000369704.3	+	13	2147	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	671										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTCTTGCCAGGAGTATGGCTA	0.473000													30	26					0	0	0.002836	0	0
PGM3	5238	broad.mit.edu	37	6	83896745	83896745	+	Missense_Mutation	SNP	G	G	T	rs142142489	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:83896745G>T	ENST00000513973.1	-	4	555	c.439C>A	c.(439-441)Cta>Ata	p.L147I	PGM3_ENST00000506587.1_Missense_Mutation_p.L175I|PGM3_ENST00000512866.1_Missense_Mutation_p.L147I|PGM3_ENST00000283977.4_Missense_Mutation_p.L66I	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	147					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TGACCTCCTAGAACAGTCACA	0.323000													39	8					2.37825e-27	3.88257e-27	0.002522	1	0
CD22	933	broad.mit.edu	37	19	35835957	35835957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35835957G>A	ENST00000085219.5	+	11	2202	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	CD22_ENST00000270311.6_Intron|CD22_ENST00000341773.6_Nonsense_Mutation_p.W535*|CD22_ENST00000536635.2_Nonsense_Mutation_p.W624*|CD22_ENST00000419549.2_Nonsense_Mutation_p.W540*|CD22_ENST00000594250.1_Nonsense_Mutation_p.W535*|CD22_ENST00000544992.2_Nonsense_Mutation_p.W712*	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	712					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTCTCAGTTGGAAGAGGACAC	0.557000													35	90					0	0	0.003214	0	0
SPIN4	139886	broad.mit.edu	37	X	62570692	62570692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:62570692G>A	ENST00000335144.3	-	1	526	c.7C>T	c.(7-9)Cct>Tct	p.P3S	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_5'UTR	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	3					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACGGTTGGAGGAGACATAGCT	0.493000													30	3					0	0	0.003271	0	0
STS	412	broad.mit.edu	37	X	7177712	7177712	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:7177712G>A	ENST00000217961.4	+	5	940	c.720G>A	c.(718-720)ctG>ctA	p.L240L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	240					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)	TCCGGCCCCTGAACTGCTTCA	0.527000									Ichthyosis				29	26					0	0	0.005443	0	0
PTPN22	26191	broad.mit.edu	37	1	114401651	114401651	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:114401651G>A	ENST00000359785.5	-	3	381	c.246C>T	c.(244-246)tcC>tcT	p.S82S	PTPN22_ENST00000460620.1_Silent_p.S82S|PTPN22_ENST00000525799.1_Silent_p.S82S|PTPN22_ENST00000528414.1_Silent_p.S82S|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000420377.2_Silent_p.S82S|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	82	Tyrosine-protein phosphatase.				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)		TGATGTAGCTGGAATCCTCAT	0.398000													15	22					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113318320	113318320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:113318320G>A	ENST00000297405.5	-	51	8231	c.7987C>T	c.(7987-7989)Cga>Tga	p.R2663*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2593*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2559*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2623*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2663	Sushi 15.					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						GATGACAATCGATATCCATCA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	35					0	0	0.007835	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202248	140202248	+	Silent	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140202248T>G	ENST00000529859.1	+	1	888	c.888T>G	c.(886-888)tcT>tcG	p.S296S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S296S|PCDHA5_ENST00000529619.1_Silent_p.S296S|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATTAATTCTAATACTGGTG	0.313000													8	26					0	0	0.006214	0	0
PAPL	390928	broad.mit.edu	37	19	39600743	39600743	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39600743G>A	ENST00000331256.5	+	13	1576	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	PAPL_ENST00000594229.1_3'UTR	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		434						extracellular region	acid phosphatase activity|metal ion binding										TGTTTGGCCGGAGGATGTACC	0.567000											OREG0025457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	81					0	0	0.002836	0	0
RNF175	285533	broad.mit.edu	37	4	154649477	154649477	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154649477A>T	ENST00000347063.4	-	4	655	c.283T>A	c.(283-285)Tat>Aat	p.Y95N	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	95						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATCGTGAAATATAAGGGGACA	0.448000													64	46					0	0	0.003610	0	0
SCFD1	23256	broad.mit.edu	37	14	31191097	31191097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31191097C>T	ENST00000458591.2	+	22	1971	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	SCFD1_ENST00000541123.1_Missense_Mutation_p.P397S|SCFD1_ENST00000544052.2_Missense_Mutation_p.P515S|SCFD1_ENST00000421551.3_Missense_Mutation_p.P523S|SCFD1_ENST00000396629.2_Missense_Mutation_p.P490S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	582					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGCTCAGTTCCCAGAAATAA	0.338000													35	66					0	0	0.006999	0	0
MUC21	394263	broad.mit.edu	37	6	30951752	30951752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30951752G>A	ENST00000376296.3	+	1	258	c.17G>A	c.(16-18)gGa>gAa	p.G6E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	6						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATGCAGAAAGGAAATGTTCTC	0.428000													25	82					0	0	0.001512	0	0
DLG4	1742	broad.mit.edu	37	17	7107049	7107049	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7107049G>A	ENST00000399510.2	-	7	1278	c.426C>T	c.(424-426)atC>atT	p.I142I	DLG4_ENST00000302955.6_Silent_p.I96I|DLG4_ENST00000399506.2_Silent_p.I99I|DLG4_ENST00000485100.1_Silent_p.I96I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	99	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CACCAGGAATGATCTTGGTGA	0.617000													16	51					0	0	0.007413	0	0
ZNF630	57232	broad.mit.edu	37	X	47918760	47918760	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47918760G>A	ENST00000276054.4	-	5	1633	c.699C>T	c.(697-699)tcC>tcT	p.S233S	ZNF630_ENST00000442455.3_Silent_p.S343S|ZNF630_ENST00000409324.3_Silent_p.S357S|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTGACTTCTGGGAGAAAGCTT	0.438000													16	11					0	0	0.003163	0	0
CALN1	83698	broad.mit.edu	37	7	71743780	71743780	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:71743780G>A	ENST00000395275.2	-	3	523	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CALN1_ENST00000405452.2_Silent_p.F3F|CALN1_ENST00000395276.2_Silent_p.F3F|CALN1_ENST00000329008.5_Silent_p.F3F|CALN1_ENST00000412588.1_Silent_p.F45F|CALN1_ENST00000431984.1_Silent_p.F3F	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	3	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCACATGGTGGAACGGCATCT	0.498000													12	38					0	0	0.001855	0	0
PCSK9	255738	broad.mit.edu	37	1	55525299	55525299	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55525299C>T	ENST00000302118.5	+	10	1934	c.1644C>T	c.(1642-1644)acC>acT	p.T548T	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	548					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCATGGGGACCCGTGTCCACT	0.647000													42	55					0	0	0.001951	0	0
OTOP3	347741	broad.mit.edu	37	17	72945387	72945387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72945387G>A	ENST00000328801.4	+	7	1667	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	556						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TTTGAGAACGGGCTAGAAAAG	0.567000													25	90					0	0	0.001512	0	0
TRIP13	9319	broad.mit.edu	37	5	911963	911963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:911963C>T	ENST00000166345.3	+	10	1228	c.872C>T	c.(871-873)tCc>tTc	p.S291F		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	291					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AACAGGCATTCCAATGTTGTG	0.542000													6	34					0	0	0.003080	0	0
CATSPERB	79820	broad.mit.edu	37	14	92185775	92185775	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:92185775G>A	ENST00000256343.3	-	5	513	c.357C>T	c.(355-357)atC>atT	p.I119I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	119					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGCTTTGTGTGATGTTTTCTC	0.313000													14	22					0	0	0.001216	0	0
GIPR	2696	broad.mit.edu	37	19	46176157	46176157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46176157G>A	ENST00000590918.1	+	5	428	c.329G>A	c.(328-330)gGa>gAa	p.G110E	GIPR_ENST00000304207.8_Missense_Mutation_p.G74E|GIPR_ENST00000263281.3_Missense_Mutation_p.G110E	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	110					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCCAATGGGGACTTTGGAGA	0.507000													16	49					0	0	0.006122	0	0
DNAAF1	123872	broad.mit.edu	37	16	84211377	84211377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84211377G>A	ENST00000378553.5	+	12	2232	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	703			G -> R (in dbSNP:rs4150188).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACGTGTGTCGGAGTTGCCCAG	0.572000													30	65					0	0	0.002836	0	0
EYA1	2138	broad.mit.edu	37	8	72127689	72127689	+	Silent	SNP	C	C	T	rs147434089		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72127689C>T	ENST00000340726.3	-	16	2169	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	EYA1_ENST00000388741.2_Silent_p.A476A|EYA1_ENST00000388740.3_Silent_p.A477A|EYA1_ENST00000303824.7_Silent_p.A504A|EYA1_ENST00000388742.4_Silent_p.A510A|EYA1_ENST00000388743.2_Silent_p.A509A|EYA1_ENST00000419131.1_Silent_p.A475A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	510					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCAGGACTTTCGCCAATGCTG	0.338000													46	49					0	0	0.003610	0	0
LRRK2	120892	broad.mit.edu	37	12	40699676	40699676	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:40699676G>A	ENST00000298910.7	+	28	3925	c.3867G>A	c.(3865-3867)ggG>ggA	p.G1289G		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1289					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAATGGGGAAATTAAGCA	0.358000													15	20					0	0	0.004990	0	0
PCSK5	5125	broad.mit.edu	37	9	78638703	78638703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:78638703G>A	ENST00000545128.1	+	4	999	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PCSK5_ENST00000376767.3_Missense_Mutation_p.G154E|PCSK5_ENST00000376752.4_Missense_Mutation_p.G154E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	154	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATATCGAAGGAGCCTGGAAG	0.453000													22	32					0	0	0.003954	0	0
MYPOP	339344	broad.mit.edu	37	19	46393885	46393885	+	Missense_Mutation	SNP	G	G	A	rs147675790	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46393885G>A	ENST00000322217.5	-	3	1282	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	399						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TAGATTTCACGGAGATTTCCA	0.642000													19	41					0	0	0.001523	0	0
KRT18	3875	broad.mit.edu	37	12	53345998	53345998	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53345998G>A	ENST00000550600.1	+	7	1098	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	KRT18_ENST00000388837.2_Silent_p.E348E|KRT18_ENST00000388835.3_Silent_p.E348E			P05783	K1C18_HUMAN	keratin 18	348	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TTGAGTCAGAGCTGGCACAGA	0.632000													4	5					0	0	0.000248	0	0
RLIM	51132	broad.mit.edu	37	X	73814155	73814155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73814155G>T	ENST00000332687.6	-	3	457	c.239C>A	c.(238-240)tCa>tAa	p.S80*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.S80*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	80					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTTCATCTGAGTTTTGCGG	0.423000													33	4					1.58521e-26	2.58663e-26	0.005524	1	0
CXorf21	80231	broad.mit.edu	37	X	30578126	30578126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:30578126G>A	ENST00000378962.3	-	3	669	c.347C>T	c.(346-348)tCt>tTt	p.S116F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	116										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACTTTTGCAAGAAGATGGAAC	0.443000													40	43					0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179639012	179639012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179639012C>T	ENST00000589042.1	-	30	7203	c.6979G>A	c.(6979-6981)Gat>Aat	p.D2327N	TTN_ENST00000460472.2_Missense_Mutation_p.D2281N|TTN_ENST00000342175.6_Missense_Mutation_p.D2281N|TTN_ENST00000360870.5_Missense_Mutation_p.D2327N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D2327N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D2281N|TTN_ENST00000342992.6_Missense_Mutation_p.D2327N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2044	Ig-like 12.						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)			TTGGTTACATCCTTGACCGTG	0.408000													29	42					0	0	0.006320	0	0
ZNF44	51710	broad.mit.edu	37	19	12361119	12361119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12361119G>A	ENST00000426973.1	-	2	97	c.98C>T	c.(97-99)cCt>cTt	p.P33L				P15621	ZNF44_HUMAN	zinc finger protein 44	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTCTGTGAAGGATCCAGCAA	0.418000													25	17					0	0	0.004656	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190873	185190873	+	Missense_Mutation	SNP	G	G	A	rs144909413		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185190873G>A	ENST00000265026.3	+	11	2088	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R378Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R441Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R585Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R441Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	585					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCCGATATCGAAGCAAACCA	0.542000													58	167					0	0	0.003610	0	0
ADH4	127	broad.mit.edu	37	4	100063856	100063856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:100063856G>A	ENST00000508393.1	-	3	316	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.P51S|ADH4_ENST00000423445.1_Missense_Mutation_p.P51S|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.P32S			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	32					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TGAGCCTTGGGGGGAGCTACT	0.507000													14	10					0	0	0.004990	0	0
SIRPB1	10326	broad.mit.edu	37	20	1584658	1584658	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:1584658C>T	ENST00000279477.7	-	4	946	c.882G>A	c.(880-882)agG>agA	p.R294R	SIRPB1_ENST00000568365.1_Silent_p.R294R|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	294	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCGTTTCTGTCCTGGACACGT	0.532000													24	11					0	0	0.004656	0	0
DPYD	1806	broad.mit.edu	37	1	97564164	97564164	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97564164G>A	ENST00000370192.3	-	21	2747	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	883					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CGCTGTTCCAGATAAGGTCCA	0.338000													9	15					0	0	0.006214	0	0
MYO10	4651	broad.mit.edu	37	5	16680099	16680099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:16680099G>A	ENST00000513610.1	-	33	4953	c.4499C>T	c.(4498-4500)gCc>gTc	p.A1500V	MYO10_ENST00000515803.1_Missense_Mutation_p.A839V|MYO10_ENST00000274203.9_Missense_Mutation_p.A857V|MYO10_ENST00000427430.2_Missense_Mutation_p.A857V|MYO10_ENST00000505695.1_Missense_Mutation_p.A839V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1500					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTCGATCGGGGCCTTGGTGTC	0.552000													7	21					0	0	0.004482	0	0
ITGAD	3681	broad.mit.edu	37	16	31435806	31435806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31435806G>A	ENST00000389202.2	+	29	3329	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1094					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E1094K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTGCTAGAAGAAGACGAGGT	0.542000													10	39					0	0	0.000673	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:162751222C>T	ENST00000375514.5	+	11	1458	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000535165.1_Silent_p.I380I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000													12	21					0	0	0.000978	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963128	88963128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:88963128G>A	ENST00000333190.4	+	4	1441	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	278						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)			CCTTACCAAGGAAAAAGAGGT	0.358000										HNSCC(36;0.09)			10	61					0	0	0.000673	0	0
SEC24A	10802	broad.mit.edu	37	5	134007571	134007571	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134007571T>C	ENST00000398844.2	+	4	1100	c.812T>C	c.(811-813)tTa>tCa	p.L271S	SEC24A_ENST00000322887.4_Missense_Mutation_p.L271S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	271					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGGTGGCTTATTGGGTGAG	0.328000													6	52					0	0	0.001984	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279477	42279477	+	Missense_Mutation	SNP	C	C	T	rs146301749	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42279477C>T	ENST00000399518.3	-	17	2414	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R614Q|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	631	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AAGGATTTCTCGGAAAGAATT	0.527000													18	20					0	0	0.006122	0	0
HCN1	348980	broad.mit.edu	37	5	45262581	45262581	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:45262581G>A	ENST00000303230.4	-	8	2172	c.2115C>T	c.(2113-2115)agC>agT	p.S705S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	705						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTACAGGAGGGCTGCAGACCG	0.642000													31	10					0	0	0.002836	0	0
FGGY	55277	broad.mit.edu	37	1	59844482	59844482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:59844482C>T	ENST00000371218.4	+	5	711	c.527C>T	c.(526-528)tCg>tTg	p.S176L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.S176L|FGGY_ENST00000371212.1_Missense_Mutation_p.S88L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	176					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACTTCTTATCGTGGAAGGCA	0.393000													10	25					0	0	0.001368	0	0
MYO1G	64005	broad.mit.edu	37	7	45009048	45009048	+	Missense_Mutation	SNP	C	C	T	rs141469545		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:45009048C>T	ENST00000258787.7	-	12	1674	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	513	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCGGAAGTCTCGGCCAAACTC	0.582000													49	146					0	0	0.003610	0	0
SCAMP4	113178	broad.mit.edu	37	19	1917763	1917763	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1917763C>T	ENST00000316097.8	+	3	345	c.78C>T	c.(76-78)tcC>tcT	p.S26S	SCAMP4_ENST00000409472.1_Silent_p.S26S|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	26					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACTTCTCCGACGAGATCC	0.597000													12	26					0	0	0.000978	0	0
CT47B1	643311	broad.mit.edu	37	X	120008958	120008958	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:120008958C>T	ENST00000371311.3	-	1	821	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	189										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGATCAGGCCGAGGC	0.716000													21	23					0	0	0.001523	0	0
TNFRSF8	943	broad.mit.edu	37	1	12198328	12198328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12198328G>A	ENST00000263932.2	+	14	1600	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E348K	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	460					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCGCGGAAGAGCGAGGGTT	0.672000													12	24					0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	62149192	62149192	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:62149192C>T	ENST00000280772.1	-	1	296	c.105G>A	c.(103-105)cgG>cgA	p.R35R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	35					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						CCTTTTTCTTCCGATCCCGGG	0.398000													31	55					0	0	0.003271	0	0
MED13L	23389	broad.mit.edu	37	12	116429486	116429486	+	Silent	SNP	G	G	A	rs145072799		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:116429486G>A	ENST00000281928.3	-	17	3479	c.3273C>T	c.(3271-3273)ccC>ccT	p.P1091P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1091					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAGAGTTGAGGGGCCGTGTAG	0.547000													8	9					0	0	0.004482	0	0
RIMS2	9699	broad.mit.edu	37	8	105026827	105026827	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105026827G>A	ENST00000507740.1	+	17	2996	c.2760G>A	c.(2758-2760)aaG>aaA	p.K920K	RIMS2_ENST00000262231.10_Silent_p.K945K|RIMS2_ENST00000406091.3_Silent_p.K1106K|RIMS2_ENST00000436393.2_Silent_p.K846K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1168					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCCACCAAAGGGAACGTTGG	0.438000										HNSCC(12;0.0054)			30	26					0	0	0.003755	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334086	37334086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:37334086C>T	ENST00000262825.5	+	14	2471	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P752S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P693S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P746S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	746					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGCTTATGTCCTGGGCTGGC	0.637000													22	97					0	0	0.001882	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616219	140616219	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140616219C>T	ENST00000526308.1	+	0	2282					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCTCGGTGTCGTCGCTCTTC	0.687000													30	157					0	0	0.002836	0	0
STAB1	23166	broad.mit.edu	37	3	52542337	52542337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52542337C>T	ENST00000321725.6	+	21	2273	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	733	EGF-like 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACGCAGTGTCCTGGGGGCTT	0.572000													17	64					0	0	0.007413	0	0
CAD	790	broad.mit.edu	37	2	27456983	27456983	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27456983C>T	ENST00000264705.4	+	22	3669	c.3507C>T	c.(3505-3507)acC>acT	p.T1169T	CAD_ENST00000403525.1_Silent_p.T1106T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1169	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGCTGGTGACCCCCCCACAAG	0.577000													17	33					0	0	0.004007	0	0
TEX15	56154	broad.mit.edu	37	8	30694351	30694351	+	Missense_Mutation	SNP	C	C	T	rs112222282	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:30694351C>T	ENST00000256246.2	-	3	8374	c.8300G>A	c.(8299-8301)cGa>cAa	p.R2767Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2767										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGCACAAATCGATTAGGAAG	0.378000													14	33					0	0	0.004007	0	0
TRAF2	7186	broad.mit.edu	37	9	139820209	139820209	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139820209C>T	ENST00000359662.3	+	11	1563	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	TRAF2_ENST00000247668.2_Silent_p.S454S|TRAF2_ENST00000536468.1_Silent_p.S454S			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	454					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACTTCATCCTCTTTTCAGA	0.587000													22	35					0	0	0.004656	0	0
BCL9L	283149	broad.mit.edu	37	11	118769743	118769743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:118769743G>A	ENST00000334801.3	-	8	4845	c.3881C>T	c.(3880-3882)cCa>cTa	p.P1294L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1294	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACACCCGGTGGGTATGCGTC	0.687000													7	2					0	0	0.003080	0	0
KRT37	8688	broad.mit.edu	37	17	39578669	39578669	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39578669C>T	ENST00000225550.3	-	4	749	c.750G>A	c.(748-750)agG>agA	p.R250R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	250	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCAGCTGACTCCTCAGAATCT	0.567000													45	132					0	0	0.003610	0	0
RDH14	57665	broad.mit.edu	37	2	18736664	18736664	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:18736664G>A	ENST00000381249.3	-	2	911	c.804C>T	c.(802-804)ttC>ttT	p.F268F	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					ACACCAAATTGAAGAGTGGTT	0.453000													45	113					0	0	0.002852	0	0
CASR	846	broad.mit.edu	37	3	121980966	121980966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121980966G>A	ENST00000498619.1	+	4	1522	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CASR_ENST00000296154.5_Missense_Mutation_p.E362K|CASR_ENST00000490131.1_Missense_Mutation_p.E362K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	362					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACCTCCAAGAAGGTGCAAA	0.507000													11	44					0	0	0.000978	0	0
WDR72	256764	broad.mit.edu	37	15	53992010	53992010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:53992010C>T	ENST00000396328.1	-	13	1941	c.1702G>A	c.(1702-1704)Gtt>Att	p.V568I	WDR72_ENST00000557913.1_Missense_Mutation_p.V565I|WDR72_ENST00000559418.1_Missense_Mutation_p.V578I|WDR72_ENST00000360509.5_Missense_Mutation_p.V568I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	568										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAATTCTCAACCGGGTGCCAT	0.418000													114	145					0	0	0.003610	0	0
HELB	92797	broad.mit.edu	37	12	66717914	66717914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66717914C>T	ENST00000247815.4	+	10	2508	c.2449C>T	c.(2449-2451)Cct>Tct	p.P817S		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	817					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGGTACGCTTCCTGATTTTGC	0.358000													31	192					0	0	0.002445	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653108	46653108	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46653108T>G	ENST00000253255.5	-	1	6111	c.6112A>C	c.(6112-6114)Att>Ctt	p.I2038L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2038					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGAAAGGGAATGAAGTCTTCT	0.383000													20	77					0	0	0.001882	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21294544	21294544	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21294544G>A	ENST00000256958.2	+	2	132	c.36G>A	c.(34-36)gaG>gaA	p.E12E	RP11-125O5.2_ENST00000590779.1_3'UTR	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	12					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAACAGCAGAGGCACAACCTT	0.299000													18	32					0	0	0.003330	0	0
TMEM82	388595	broad.mit.edu	37	1	16069344	16069344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16069344C>T	ENST00000375782.1	+	2	241	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	35	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATCGGGGCCCTTGGAGTCTT	0.647000													6	6					0	0	0.001984	0	0
RSF1	51773	broad.mit.edu	37	11	77402212	77402212	+	Silent	SNP	G	G	A	rs139840785		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:77402212G>A	ENST00000308488.6	-	9	3194	c.2892C>T	c.(2890-2892)gcC>gcT	p.A964A	RSF1_ENST00000480887.1_Silent_p.A712A|RSF1_ENST00000360355.2_Silent_p.A933A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	964					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ACCTTCGTTCGGCACGCTCTT	0.353000													26	73					0	0	0.006320	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953849	10953849	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:10953849T>A	ENST00000254488.2	+	7	1032	c.966T>A	c.(964-966)agT>agA	p.S322R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	322					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGGGAAGTTATAACAATT	0.512000													26	83					0	0	0.007291	0	0
CCDC67	159989	broad.mit.edu	37	11	93088703	93088703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93088703C>T	ENST00000298050.3	+	3	296	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.Q66*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	66										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCAGAAAGGTCAAGAGGTACT	0.333000													7	21					0	0	0.001984	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526242	115526242	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:115526242A>T	ENST00000361048.1	+	3	428	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.Q28L	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CCACCTTCTCAGCTGTTCTCC	0.343000													38	32					0	0	0.002852	0	0
RSPO1	284654	broad.mit.edu	37	1	38078580	38078580	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:38078580C>T	ENST00000356545.2	-	8	1426	c.639G>A	c.(637-639)agG>agA	p.R213R	RSPO1_ENST00000401071.2_Silent_p.R150R|RSPO1_ENST00000401069.1_Silent_p.R213R|RSPO1_ENST00000373059.1_Silent_p.R186R|RSPO1_ENST00000401068.1_Silent_p.R213R|RSPO1_ENST00000401070.1_Silent_p.R150R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	213					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCTCCCTTCCTCCTCTTCT	0.617000													13	21					0	0	0.003163	0	0
TAF9	6880	broad.mit.edu	37	5	68651550	68651550	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:68651550G>A	ENST00000380822.4	-	4	303	c.252C>T	c.(250-252)ttC>ttT	p.F84F	TAF9_ENST00000380818.3_Silent_p.F81F|TAF9_ENST00000512561.1_Silent_p.F53F|TAF9_ENST00000502819.1_Intron	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	84						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AGCGTTCAGGGAAGAAATCAC	0.333000													15	77					0	0	0.003163	0	0
PCP4	5121	broad.mit.edu	37	21	41300911	41300911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41300911G>A	ENST00000328619.5	+	3	249	c.64G>A	c.(64-66)Gga>Aga	p.G22R	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	22					central nervous system development	cytosol|nucleus		p.G22R(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TGCTACAGATGGACAGAAGAA	0.453000													13	64					0	0	0.004007	0	0
CD109	135228	broad.mit.edu	37	6	74519803	74519803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:74519803C>T	ENST00000437994.2	+	27	3883	c.3452C>T	c.(3451-3453)tCa>tTa	p.S1151L	CD109_ENST00000422508.2_Missense_Mutation_p.S1074L|CD109_ENST00000287097.5_Missense_Mutation_p.S1151L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1151						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACTGCTCTCACACTTCTTA	0.483000													32	3					0	0	0.004878	0	0
ASIC5	51802	broad.mit.edu	37	4	156784766	156784766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156784766G>A	ENST00000537611.2	-	2	227	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	61						integral to membrane|plasma membrane											AGCACCCTGCGAATTTTGCTC	0.488000													12	22					0	0	0.001855	0	0
MDM1	56890	broad.mit.edu	37	12	68716926	68716926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:68716926G>A	ENST00000303145.7	-	5	814	c.728C>T	c.(727-729)cCa>cTa	p.P243L	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P198L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	243						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCTTTCACTGGAGATAAACC	0.328000													63	47					0	0	0.003610	0	0
EOGT	285203	broad.mit.edu	37	3	69053543	69053543	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:69053543G>A	ENST00000383701.3	-	8	1348	c.606C>T	c.(604-606)agC>agT	p.S202S	EOGT_ENST00000295571.5_Silent_p.S202S|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.S101S	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		ACTGCAGAGGGCTTTTGCGCT	0.398000													37	29					0	0	0.005524	0	0
SCN5A	6331	broad.mit.edu	37	3	38607912	38607912	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38607912G>A	ENST00000413689.1	-	21	4021	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	SCN5A_ENST00000414099.2_Silent_p.F1276F|SCN5A_ENST00000425664.1_Silent_p.F1276F|SCN5A_ENST00000423572.2_Silent_p.F1275F|SCN5A_ENST00000450102.2_Silent_p.F1222F|SCN5A_ENST00000455624.2_Silent_p.F1275F|SCN5A_ENST00000449557.2_Silent_p.F1222F|SCN5A_ENST00000443581.1_Silent_p.F1275F|SCN5A_ENST00000451551.2_Silent_p.F1222F|SCN5A_ENST00000333535.4_Silent_p.F1276F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1276					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTACGATGAGGAAGTCGAGCC	0.577000													17	44					0	0	0.001216	0	0
DDC	1644	broad.mit.edu	37	7	50607616	50607616	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:50607616G>A	ENST00000444124.2	-	3	512	c.312C>T	c.(310-312)tcC>tcT	p.S104S	DDC_ENST00000357936.5_Silent_p.S104S|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Silent_p.S104S|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.S104S|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	104	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCCTCACCCAGGAGAAGCCGA	0.652000													7	33					0	0	0.003080	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54307284C>T	ENST00000324134.6	-	6	2675	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000													31	21					0	0	0.001786	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33399973C>T	ENST00000418600.2	+	4	432	c.331C>T	c.(331-333)Cca>Tca	p.P111S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111S|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637000													6	57					0	0	0.001984	0	0
OR5C1	392391	broad.mit.edu	37	9	125551739	125551739	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125551739G>A	ENST00000373680.2	+	1	590	c.528G>A	c.(526-528)cgG>cgA	p.R176R		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCCGCTCCCGGAAGATCAATA	0.567000													13	24					0	0	0.002450	0	0
PCNX	22990	broad.mit.edu	37	14	71543100	71543100	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71543100C>T	ENST00000304743.2	+	28	5747	c.5301C>T	c.(5299-5301)ctC>ctT	p.L1767L	PCNX_ENST00000439984.3_Silent_p.L1656L|PCNX_ENST00000238570.5_Silent_p.L1695L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1767						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTTACCTCAACTGGATAG	0.413000													20	10					0	0	0.002780	0	0
DENND1C	79958	broad.mit.edu	37	19	6477258	6477258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6477258G>A	ENST00000381480.2	-	8	596	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.P118S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	162	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTAGGGGGGGGGATACCCTGC	0.672000													16	10					0	0	0.006122	0	0
THBS2	7058	broad.mit.edu	37	6	169648794	169648794	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:169648794G>A	ENST00000366787.3	-	4	576	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	109	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTGCCTCTGGGAGAGACCGG	0.647000													22	31					0	0	0.002780	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828895	125828895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:125828895C>T	ENST00000393434.2	-	20	2588	c.2239G>A	c.(2239-2241)Ggg>Agg	p.G747R	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	747	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G747R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTGCGGCCCGTGGTCGGTG	0.607000													32	24					0	0	0.002445	0	0
IRF6	3664	broad.mit.edu	37	1	209968732	209968732	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:209968732C>T	ENST00000367021.3	-	5	583	c.411G>A	c.(409-411)aaG>aaA	p.K137K	IRF6_ENST00000542854.1_Silent_p.K42K	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	137					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K137N(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CATCATTATCCTTCTCATCCC	0.542000										HNSCC(57;0.16)			59	27					0	0	0.003610	0	0
EML3	256364	broad.mit.edu	37	11	62376050	62376050	+	Silent	SNP	G	G	A	rs138198368		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62376050G>A	ENST00000394773.2	-	9	1381	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	EML3_ENST00000529309.1_Silent_p.F358F|EML3_ENST00000494176.2_Silent_p.F330F|EML3_ENST00000531557.1_Silent_p.F141F|EML3_ENST00000278845.4_Silent_p.F359F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	358						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCCGCTCGAAGGCCCCCA	0.597000													110	96					0	0	0.003610	0	0
KIF23	9493	broad.mit.edu	37	15	69727868	69727868	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:69727868C>T	ENST00000260363.4	+	11	1236	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	KIF23_ENST00000559279.1_Silent_p.V373V|KIF23_ENST00000352331.4_Silent_p.V373V|KIF23_ENST00000558585.1_Silent_p.V190V|KIF23_ENST00000537891.1_Silent_p.V190V|KIF23_ENST00000395392.2_Silent_p.V373V	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	373					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GTATGGATGTCCTAAGAGAGA	0.348000													23	30					0	0	0.001512	0	0
SV2C	22987	broad.mit.edu	37	5	75581632	75581632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:75581632G>A	ENST00000502798.2	+	6	1516	c.1074G>A	c.(1072-1074)atG>atA	p.M358I	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.M358I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	358					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGCTTGGATGATTCTGAAGT	0.483000													16	96					0	0	0.001216	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	C	T	rs147738330		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:28358748C>T	ENST00000337532.5	-	14	1433	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_ENST00000540098.1_Missense_Mutation_p.R386Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R261Q|MPP7_ENST00000375732.1_Missense_Mutation_p.R386Q|MPP7_ENST00000375719.3_Missense_Mutation_p.R386Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000													11	17					0	0	0.001368	0	0
C15orf57	90416	broad.mit.edu	37	15	40855073	40855073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40855073G>A	ENST00000358005.3	-	2	415	c.142C>T	c.(142-144)Cct>Tct	p.P48S	C15orf57_ENST00000561011.1_Missense_Mutation_p.P48S|C15orf57_ENST00000560305.1_Missense_Mutation_p.P48S|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558871.1_Missense_Mutation_p.P48S|C15orf57_ENST00000559911.1_Missense_Mutation_p.P48S|C15orf57_ENST00000558750.1_Missense_Mutation_p.P57S|C15orf57_ENST00000558113.1_Missense_Mutation_p.P48S|C15orf57_ENST00000416810.2_Missense_Mutation_p.P48S	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	48										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCACCTTCAGGGCAAGAATCC	0.502000													57	91					0	0	0.003610	0	0
URGCP	55665	broad.mit.edu	37	7	43918514	43918514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43918514G>A	ENST00000336086.6	-	4	2655	c.419C>T	c.(418-420)cCc>cTc	p.P140L	URGCP_ENST00000443736.1_Missense_Mutation_p.P140L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.P140L|URGCP_ENST00000402306.3_Missense_Mutation_p.P174L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.P183L|URGCP_ENST00000447717.3_Missense_Mutation_p.P140L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	183					cell cycle	centrosome|nucleus	GTP binding	p.P140>?(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGGTCTAAGGGGTTCACTGG	0.527000													41	24					0	0	0.007835	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031024	52031024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52031024G>A	ENST00000346477.3	-	6	1185	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P389S|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P337S|SIGLEC6_ENST00000359982.4_Intron	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	389					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACCATGACGGGGTTCACATCA	0.498000													71	66					0	0	0.003610	0	0
OR5A1	219982	broad.mit.edu	37	11	59211432	59211432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59211432G>A	ENST00000302030.2	+	1	816	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGTACTTGCGACCCAGCTCC	0.527000													90	55					0	0	0.003610	0	0
AHNAK	79026	broad.mit.edu	37	11	62291529	62291529	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62291529G>C	ENST00000378024.4	-	5	10634	c.10360C>G	c.(10360-10362)Cca>Gca	p.P3454A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3454					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACTTCTGGTGCCTTAATA	0.418000													19	85					0	0	0.001216	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953801	161953801	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161953801C>T	ENST00000294794.3	-	8	2340	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	OLFML2B_ENST00000367938.1_Silent_p.E122E|OLFML2B_ENST00000367940.2_Silent_p.E640E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	639	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCTGAAGCCCTCATCGTCCA	0.617000													15	39					0	0	0.004007	0	0
LAMB1	3912	broad.mit.edu	37	7	107576058	107576058	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107576058C>T	ENST00000393561.1	-	25	4246	c.4062G>A	c.(4060-4062)gaG>gaA	p.E1354E	LAMB1_ENST00000222399.6_Silent_p.E1330E|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1330	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCTCTGCCTCAAGAGACA	0.507000													189	20					0	0	0.003610	0	0
PSG2	5670	broad.mit.edu	37	19	43579635	43579635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43579635G>A	ENST00000406487.1	-	3	678	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	194	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCGGACAGCTGAAACCTATGA	0.498000													75	224					0	0	0.003610	0	0
EML4	27436	broad.mit.edu	37	2	42544633	42544633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:42544633G>A	ENST00000318522.5	+	19	2385	c.2123G>A	c.(2122-2124)gGa>gAa	p.G708E	EML4_ENST00000453191.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.G719E|EML4_ENST00000402711.2_Missense_Mutation_p.G650E	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	708					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTGAAAATGGAAGAAAATAT	0.328000			T	ALK	NSCLC								19	57					0	0	0.003954	0	0
NARF	26502	broad.mit.edu	37	17	80442739	80442739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80442739C>T	ENST00000390006.4	+	9	1181	c.707C>T	c.(706-708)tCa>tTa	p.S236L	NARF_ENST00000309794.10_Missense_Mutation_p.S295L|NARF_ENST00000345415.7_Missense_Mutation_p.S247L|NARF_ENST00000457415.3_Missense_Mutation_p.S341L	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	295						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCCAGCTCAGACGGGCAC	0.537000													31	51					0	0	0.003271	0	0
KRT3	3850	broad.mit.edu	37	12	53189292	53189292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53189292G>A	ENST00000417996.2	-	1	609	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	KRT3_ENST00000309505.3_Missense_Mutation_p.L179F	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	179	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGCTGCAGGAGACTCTGGTTG	0.577000													11	53					0	0	0.000673	0	0
MRC2	9902	broad.mit.edu	37	17	60768038	60768038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60768038G>A	ENST00000303375.5	+	27	4330	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	MRC2_ENST00000446119.2_Missense_Mutation_p.E176K	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1310	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGATGAGATGGAGAATGTGTT	0.637000													18	53					0	0	0.001523	0	0
SYTL3	94120	broad.mit.edu	37	6	159146619	159146619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:159146619C>T	ENST00000297239.9	+	10	999	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	SYTL3_ENST00000360448.3_Missense_Mutation_p.L201F|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	269					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCAACAGAATCTCCCATCCAG	0.403000													106	35					0	0	0.003610	0	0
IL17RC	84818	broad.mit.edu	37	3	9959649	9959649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9959649C>T	ENST00000295981.3	+	3	601	c.383C>T	c.(382-384)cCg>cTg	p.P128L	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.P57L|IL17RC_ENST00000413608.1_Missense_Mutation_p.P57L|IL17RC_ENST00000383812.4_Missense_Mutation_p.P57L|IL17RC_ENST00000403601.3_Missense_Mutation_p.P57L	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	128						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGCCTGCTCCGGGCCCCGTG	0.622000													19	11					0	0	0.001882	0	0
OR2M4	26245	broad.mit.edu	37	1	248402688	248402688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248402688C>T	ENST00000306687.1	+	1	458	c.458C>T	c.(457-459)tCt>tTt	p.S153F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			ACCTTGGGGTCTCTTGATGGG	0.458000													90	44					0	0	0.003610	0	0
PLS1	5357	broad.mit.edu	37	3	142430402	142430402	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142430402T>C	ENST00000337777.3	+	15	1902	c.1689T>C	c.(1687-1689)aaT>aaC	p.N563N	PLS1_ENST00000497002.1_Silent_p.N563N|PLS1_ENST00000457734.2_Silent_p.N563N	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	563	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGCACCAAATGCAGTTCGTC	0.348000													15	46					0	0	0.004990	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378227	31378227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31378227G>A	ENST00000297142.3	-	2	978	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	219					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATGCCCTGGGGGAGTGGTGAG	0.527000													32	92					0	0	0.005524	0	0
MIER1	57708	broad.mit.edu	37	1	67411848	67411848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:67411848C>T	ENST00000357692.2	+	5	358	c.101C>T	c.(100-102)tCa>tTa	p.S34L	MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.S34L|MIER1_ENST00000355356.3_Missense_Mutation_p.S17L|MIER1_ENST00000371014.1_Missense_Mutation_p.S70L|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Missense_Mutation_p.S17L|MIER1_ENST00000371018.3_Missense_Mutation_p.S34L|MIER1_ENST00000371016.1_Missense_Mutation_p.S34L|MIER1_ENST00000401041.1_Missense_Mutation_p.S70L	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	41					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCAGCAACATCAGATGACCAT	0.328000													20	31					0	0	0.004656	0	0
CSN2	1447	broad.mit.edu	37	4	70823295	70823295	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70823295G>A	ENST00000353151.3	-	5	383	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GGTCAAAAAAGGGTATCGTTG	0.478000													17	35					0	0	0.004007	0	0
C16orf82	162083	broad.mit.edu	37	16	27078267	27078267	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:27078267C>T	ENST00000505035.1	+	0	240				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			GTCACCTCTCCCCAGAGAGGT	0.562000													26	24					0	0	0.004656	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514559	51514559	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:51514559C>T	ENST00000396402.1	-	5	768	c.615G>A	c.(613-615)agG>agA	p.R205R	CYP19A1_ENST00000557858.1_Silent_p.R205R|CYP19A1_ENST00000396404.4_Silent_p.R205R|CYP19A1_ENST00000405913.3_Silent_p.R205R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.R205R|CYP19A1_ENST00000559878.1_Silent_p.R205R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	205					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCAAAGGGATCCTCAAGAAGA	0.488000													35	36					0	0	0.004289	0	0
DPM1	8813	broad.mit.edu	37	20	49551736	49551736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:49551736G>A	ENST00000371582.4	-	10	828	c.797C>T	c.(796-798)tCc>tTc	p.S266F	DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.S239F|DPM1_ENST00000371583.5_Missense_Mutation_p.S234F			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	239					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCCCAACTTGGATTCACCATA	0.303000													42	172					0	0	0.003214	0	0
ZNF280D	54816	broad.mit.edu	37	15	56993156	56993156	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:56993156A>T	ENST00000559237.1	-	5	1000	c.317T>A	c.(316-318)gTt>gAt	p.V106D	ZNF280D_ENST00000559000.1_Missense_Mutation_p.V106D|ZNF280D_ENST00000267807.7_Missense_Mutation_p.V119D|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000558320.1_Missense_Mutation_p.V119D	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAACAATAACAGAACTATC	0.393000													22	40					0	0	0.002299	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600319	41600319	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41600319G>A	ENST00000330436.3	+	7	1143	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	381					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCAAGTTTCGGGATTTCTTCC	0.557000													16	35					0	0	0.007413	0	0
TTC37	9652	broad.mit.edu	37	5	94818193	94818193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:94818193G>A	ENST00000358746.2	-	39	4494	c.4196C>T	c.(4195-4197)tCt>tTt	p.S1399F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1399							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGCTGGAACAGAGGTTGAGTT	0.393000													71	42					0	0	0.003610	0	0
LRIT3	345193	broad.mit.edu	37	4	110791254	110791254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:110791254G>A	ENST00000327908.3	+	4	1564	c.800G>A	c.(799-801)aGa>aAa	p.R267K	LRIT3_ENST00000379920.3_Missense_Mutation_p.R405K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R267K|LRIT3_ENST00000594814.1_Missense_Mutation_p.R450K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	405	Ig-like.					integral to membrane		p.R267I(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAAAGAAATTTAAAG	0.463000													19	15					0	0	0.006122	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260882	107260882	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:107260882A>G	ENST00000282251.5	-	12	1817	c.1790T>C	c.(1789-1791)cTa>cCa	p.L597P	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L597P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	597							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATTTAGGCTTAGATTATCATC	0.323000													15	19					0	0	0.002450	0	0
ZNF827	152485	broad.mit.edu	37	4	146686280	146686280	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:146686280C>T	ENST00000508784.1	-	13	3317	c.3090G>A	c.(3088-3090)acG>acA	p.T1030T	ZNF827_ENST00000379448.4_Silent_p.T1030T|ZNF827_ENST00000513320.1_Silent_p.T680T			Q17R98	ZN827_HUMAN	zinc finger protein 827	1030					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACATGTTCTTCGTCTTGCAGA	0.532000													11	42					0	0	0.000673	0	0
SNCAIP	9627	broad.mit.edu	37	5	121726833	121726833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121726833G>A	ENST00000261367.7	+	3	1432	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E2K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000414317.2_5'UTR|SNCAIP_ENST00000504884.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000379538.3_5'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	2					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGAATAATGGAAGCCCCTGA	0.353000													58	18					0	0	0.003610	0	0
CD22	933	broad.mit.edu	37	19	35823659	35823659	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35823659G>A	ENST00000270311.6	+	0	321				CD22_ENST00000341773.6_Missense_Mutation_p.D82N|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000085219.5_Missense_Mutation_p.D82N|CD22_ENST00000536635.2_Missense_Mutation_p.D82N|CD22_ENST00000419549.2_De_novo_Start_InFrame|CD22_ENST00000594250.1_Missense_Mutation_p.D82N|CD22_ENST00000544992.2_Missense_Mutation_p.D82N	NM_001185100.1	NP_001172029.1	P20273	CD22_HUMAN	CD22 molecule						cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGCACAAAGGATGGGAAGGT	0.473000													19	39					0	0	0.001216	0	0
RPTOR	57521	broad.mit.edu	37	17	78866666	78866666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:78866666G>A	ENST00000306801.3	+	19	2601	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.E589K	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	747					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTGACAGAGGAATGTAAGAT	0.498000													57	78					0	0	0.003610	0	0
NID2	22795	broad.mit.edu	37	14	52485933	52485933	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:52485933G>A	ENST00000216286.5	-	14	2873	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	NID2_ENST00000541773.1_Silent_p.F857F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	958	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGGGATGTGGAACCGGGCCC	0.602000													15	4					0	0	0.001523	0	0
EPPK1	83481	broad.mit.edu	37	8	144940303	144940303	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144940303G>A	ENST00000525985.1	-	2	7190	c.7119C>T	c.(7117-7119)aaC>aaT	p.N2373N				P58107	EPIPL_HUMAN	epiplakin 1	2373						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCGGTTCATCTCCT	0.682000													34	352					0	0	0.006230	0	0
SPTA1	6708	broad.mit.edu	37	1	158632567	158632567	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158632567G>A	ENST00000368148.3	-	17	2569	c.2389C>T	c.(2389-2391)Ctg>Ttg	p.L797L	SPTA1_ENST00000368147.3_Silent_p.L797L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	797					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACAAATCAGCTGCAGATGG	0.512000													41	18					0	0	0.001951	0	0
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:7079535G>A	ENST00000299481.4	+	8	2833	c.2487G>A	c.(2485-2487)gaG>gaA	p.E829E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443000													35	12					0	0	0.006230	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696515	69696515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:69696515C>T	ENST00000265403.7	+	6	1532	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T418I	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	502					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGTGTGGCAACCGTGCTATTT	0.433000													39	57					0	0	0.004289	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958295	88958295	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:88958295G>A	ENST00000268679.4	-	5	1102	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	CBFA2T3_ENST00000327483.5_Silent_p.L150L|CBFA2T3_ENST00000448839.1_Silent_p.L160L|CBFA2T3_ENST00000436887.2_Silent_p.L211L|CBFA2T3_ENST00000360302.2_Silent_p.L150L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	236	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ATTACCTTCAGGAAGGGAATG	0.587000			T	RUNX1	AML								5	22					0	0	0.001168	0	0
PDCL2	132954	broad.mit.edu	37	4	56448404	56448404	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:56448404C>T	ENST00000295645.4	-	2	109	c.6_splice	c.e2-1	p.D3_splice		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	3										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCATTGGGATCCTACACAAAA	0.303000													11	28					0	0	0.001855	0	0
VPS13D	55187	broad.mit.edu	37	1	12336956	12336956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12336956C>T	ENST00000358136.3	+	19	3441	c.3311C>T	c.(3310-3312)tCc>tTc	p.S1104F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1104F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1104					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGGTGATTTCCCTACAGGTG	0.363000													13	37					0	0	0.002450	0	0
CACNA1E	777	broad.mit.edu	37	1	181548280	181548280	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181548280T>C	ENST00000526775.1	+	5	854	c.689T>C	c.(688-690)tTt>tCt	p.F230S	CACNA1E_ENST00000360108.3_Missense_Mutation_p.F230S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F181S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F181S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F230S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F230S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	230					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCTCTTCTTTGCCATCCTG	0.453000													110	59					0	0	0.003610	0	0
CCDC157	550631	broad.mit.edu	37	22	30766437	30766437	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30766437C>T	ENST00000405659.1	+	5	1252	c.543C>T	c.(541-543)ccC>ccT	p.P181P	CCDC157_ENST00000338306.3_Silent_p.P181P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	181										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TAGGCTTGCCCCAGACCTGCC	0.597000													130	13					0	0	0.003610	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689173	27689173	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:27689173C>T	ENST00000261588.4	+	7	683	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	222										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACCCGGCACTGGTGGGCCA	0.522000													16	52					0	0	0.006122	0	0
LILRA3	11026	broad.mit.edu	37	19	54803727	54803727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54803727C>T	ENST00000391745.1	-	7	464	c.148G>A	c.(148-150)Gct>Act	p.A50T	LILRA3_ENST00000391744.3_Missense_Mutation_p.A33T|LILRA3_ENST00000251390.3_Missense_Mutation_p.A33T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGGCTCAGCCCAGAGGGTG	0.552000													16	49					0	0	0.001216	0	0
CACNA1A	773	broad.mit.edu	37	19	13565990	13565990	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13565990C>T	ENST00000360228.5	-	2	329	c.330G>A	c.(328-330)gcG>gcA	p.A110A	CACNA1A_ENST00000573710.2_Silent_p.A110A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	110					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGATGCAATTCGCTATGATGG	0.473000													45	147					0	0	0.003610	0	0
CUL2	8453	broad.mit.edu	37	10	35328007	35328007	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:35328007G>A	ENST00000374748.1	-	10	1031	c.718C>T	c.(718-720)Cta>Tta	p.L240L	CUL2_ENST00000602371.1_Silent_p.L183L|CUL2_ENST00000537177.1_Silent_p.L259L|CUL2_ENST00000374742.1_Silent_p.L240L|CUL2_ENST00000374751.3_Silent_p.L240L|CUL2_ENST00000374749.3_Silent_p.L240L|CUL2_ENST00000374746.1_Silent_p.L240L			Q13617	CUL2_HUMAN	cullin 2	240					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AATCTACCTAGAACCTATAAA	0.318000													14	12					0	0	0.002450	0	0
CHRM2	1129	broad.mit.edu	37	7	136700369	136700369	+	Missense_Mutation	SNP	G	G	A	rs140681489	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700369G>A	ENST00000445907.2	+	3	1285	c.757G>A	c.(757-759)Gat>Aat	p.D253N	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D253N|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D253N|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D253N|CHRM2_ENST00000397608.3_Missense_Mutation_p.D253N|CHRM2_ENST00000320658.5_Missense_Mutation_p.D253N|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	253					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.D253N(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCAGTGACGATGGCCTGGA	0.512000													40	6					0	0	0.007835	0	0
NLRP3	114548	broad.mit.edu	37	1	247587382	247587382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247587382G>A	ENST00000366497.2	+	4	1417	c.637G>A	c.(637-639)Gat>Aat	p.D213N	NLRP3_ENST00000336119.3_Missense_Mutation_p.D213N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.D213N|NLRP3_ENST00000348069.2_Missense_Mutation_p.D213N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D213N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D213N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	213					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGACCCCGATGATGAGCATTC	0.587000													15	41					0	0	0.003163	0	0
VILL	50853	broad.mit.edu	37	3	38048127	38048127	+	Missense_Mutation	SNP	G	G	T	rs147292695		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38048127G>T	ENST00000283713.6	+	19	2659	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L	VILL_ENST00000465644.1_Missense_Mutation_p.R516L|VILL_ENST00000383759.2_Missense_Mutation_p.R798L			O15195	VILL_HUMAN	villin-like	798	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGCCTGCGCCGGGAACAACTG	0.657000													5	49					0.000602214	0.000967026	0.000602	1	0
CPD	1362	broad.mit.edu	37	17	28750597	28750597	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28750597C>T	ENST00000225719.4	+	6	1807	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	CPD_ENST00000543464.2_Silent_p.L330L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	577	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGTTGAACCTCATAGAATACC	0.378000													11	30					0	0	0.000978	0	0
ZNF200	7752	broad.mit.edu	37	16	3274538	3274538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3274538G>A	ENST00000431561.3	-	5	1154	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF200_ENST00000414144.2_Missense_Mutation_p.S181F|ZNF200_ENST00000396868.3_Missense_Mutation_p.S180F|ZNF200_ENST00000396870.4_Missense_Mutation_p.S180F|ZNF200_ENST00000396871.4_Missense_Mutation_p.S180F|ZNF200_ENST00000575948.1_Missense_Mutation_p.S180F|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S181F(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATCATCTGAAGACTTTTCTCT	0.393000													16	38					0	0	0.004007	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711447	40711447	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40711447C>T	ENST00000454349.2	+	20	5050	c.4839C>T	c.(4837-4839)ccC>ccT	p.P1613P	TNRC6B_ENST00000402203.1_Silent_p.P809P|TNRC6B_ENST00000335727.8_Silent_p.P1503P|TNRC6B_ENST00000301923.9_Silent_p.P809P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1613					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CATCATCTCCCTGGAGCAGCA	0.572000													71	29					0	0	0.003610	0	0
ADAM12	8038	broad.mit.edu	37	10	127731669	127731669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:127731669G>A	ENST00000368679.4	-	18	2362	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	ADAM12_ENST00000368676.4_Missense_Mutation_p.P685S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	685	EGF-like.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCACAGAAGGGAGGTGCCCAG	0.612000													19	19					0	0	0.001882	0	0
KIF19	124602	broad.mit.edu	37	17	72338102	72338102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72338102G>A	ENST00000389916.4	+	3	346	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	70	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GTTCGACGTGGCCTTTGACTT	0.662000													56	82					0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159277645	159277645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:159277645C>T	ENST00000368115.1	+	6	796	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	FCER1A_ENST00000368114.1_Missense_Mutation_p.L200F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	233						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGTCACATTTCTCTTGAAGAT	0.388000													16	53					0	0	0.004007	0	0
HECW1	23072	broad.mit.edu	37	7	43508575	43508575	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43508575C>T	ENST00000395891.1	+	16	3575	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	HECW1_ENST00000453890.1_Silent_p.V956V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	990					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						TTCTGAAAGTCCGACGGGATG	0.547000													28	68					0	0	0.006320	0	0
RHBG	57127	broad.mit.edu	37	1	156347844	156347844	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156347844G>A	ENST00000400992.2	+	4	599	c.231G>A	c.(229-231)aaG>aaA	p.K77K	RHBG_ENST00000451864.2_Silent_p.K77K|RHBG_ENST00000368246.2_Silent_p.K146K|RHBG_ENST00000368249.1_Silent_p.K146K|RHBG_ENST00000255013.3_Silent_p.K77K|RHBG_ENST00000537040.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	146					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCTGGGCAAGACCGGGCCTA	0.602000													28	62					0	0	0.001512	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	C	T	rs150165907		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:140122557C>T	ENST00000458420.3	+	3	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	107	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)			38	105					0	0	0.004878	0	0
LGALS14	56891	broad.mit.edu	37	19	40197293	40197293	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40197293G>A	ENST00000392052.3	+	2	295	c.72G>A	c.(70-72)ggG>ggA	p.G24G	LGALS14_ENST00000360675.3_Silent_p.G53G	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	24	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TAATCACAGGGACACCGATCC	0.493000													55	137					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237995900	237995900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237995900C>T	ENST00000366574.2	+	105	15174	c.14857C>T	c.(14857-14859)Cca>Tca	p.P4953S	RYR2_ENST00000360064.6_Missense_Mutation_p.P4959S|RYR2_ENST00000542537.1_Missense_Mutation_p.P4937S|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4953					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTTTCCCAGCAGGGGA	0.418000													16	42					0	0	0.006122	0	0
MYH8	4626	broad.mit.edu	37	17	10323373	10323373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10323373C>T	ENST00000403437.2	-	3	266	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	58	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCCCTCCTTCTTTGCTTTGT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				88	217					0	0	0.003610	0	0
UBA2	10054	broad.mit.edu	37	19	34949692	34949692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34949692C>T	ENST00000439527.2	+	13	1474	c.976C>T	c.(976-978)Cca>Tca	p.P326S	UBA2_ENST00000246548.4_Missense_Mutation_p.P422S|UBA2_ENST00000592791.1_5'UTR			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	422					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAATAAACAACCAAACCCAAG	0.423000													18	63					0	0	0.001523	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228404	140228404	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140228404G>A	ENST00000378122.3	+	1	1048	c.324G>A	c.(322-324)gtG>gtA	p.V108V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.V108V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGAGGTGATCGTAGACA	0.542000													38	240					0	0	0.001951	0	0
MTMR7	9108	broad.mit.edu	37	8	17218671	17218671	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17218671G>A	ENST00000180173.5	-	4	457	c.423C>T	c.(421-423)ctC>ctT	p.L141L	MTMR7_ENST00000521857.1_Silent_p.L141L	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	141	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AATGATTAGGGAGGCCCATCC	0.473000													15	21					0	0	0.004990	0	0
GAK	2580	broad.mit.edu	37	4	860902	860902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:860902G>A	ENST00000314167.4	-	21	2824	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	GAK_ENST00000511163.1_Missense_Mutation_p.S826F|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	905					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGTGTTGCTGGAGGGGGCCTT	0.721000													6	8					0	0	0.003080	0	0
PRG4	10216	broad.mit.edu	37	1	186281394	186281394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:186281394G>A	ENST00000445192.2	+	11	3926	c.3881G>A	c.(3880-3882)gGa>gAa	p.G1294E	PRG4_ENST00000367483.4_Missense_Mutation_p.G1253E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1201E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1251E|PRG4_ENST00000367484.3_Missense_Mutation_p.G823E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1294					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						CCAGTGTATGGAGAAACGACA	0.433000													23	70					0	0	0.002299	0	0
PDZD7	79955	broad.mit.edu	37	10	102782035	102782035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102782035G>A	ENST00000370215.3	-	5	875	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	217	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GAAGTCGTCGGAGGTTGTGTA	0.587000													10	33					0	0	0.000673	0	0
CPT1C	126129	broad.mit.edu	37	19	50216832	50216832	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50216832C>T	ENST00000392518.4	+	20	2754	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	CPT1C_ENST00000323446.5_Silent_p.S794S|CPT1C_ENST00000598293.1_Silent_p.S794S|CPT1C_ENST00000405931.2_Silent_p.S783S|CPT1C_ENST00000354199.5_Silent_p.S705S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	794					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGGGCCTCCAAGGCCTCAA	0.577000													21	49					0	0	0.004656	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311045	154311045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154311045G>A	ENST00000285873.7	-	5	829	c.754C>T	c.(754-756)Cga>Tga	p.R252*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	252					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCAGATTCGAATGGTTTGA	0.418000													6	55					0	0	0.003080	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051948	103051948	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:103051948A>C	ENST00000306312.3	-	6	750	c.489T>G	c.(487-489)aaT>aaG	p.N163K	SLC26A5_ENST00000339444.6_Missense_Mutation_p.N163K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N163K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N126K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.N163K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.N163K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	163					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATTGGTTGCATTTACTCCTC	0.448000													80	8					0	0	0.003610	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133663997	133663997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:133663997G>A	ENST00000310926.4	-	10	1676	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S392F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	468	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ATGGCAAGGGGAGAGGTACTC	0.582000													40	130					0	0	0.002222	0	0
NALCN	259232	broad.mit.edu	37	13	101710319	101710319	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:101710319C>T	ENST00000251127.6	-	43	5076	c.4995G>A	c.(4993-4995)agG>agA	p.R1665R	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1665						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCCAAATTTCCTCTGGGGTT	0.562000													20	33					0	0	0.001882	0	0
FCAR	2204	broad.mit.edu	37	19	55385768	55385768	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55385768T>G	ENST00000355524.3	+	1	33	c.23T>G	c.(22-24)cTc>cGc	p.L8R	FCAR_ENST00000469767.1_Missense_Mutation_p.L8R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.L8R|FCAR_ENST00000391723.3_Missense_Mutation_p.L8R|FCAR_ENST00000391725.3_Missense_Mutation_p.L8R|FCAR_ENST00000391724.3_Missense_Mutation_p.L8R|FCAR_ENST00000391726.3_Missense_Mutation_p.L8R|FCAR_ENST00000353758.4_Missense_Mutation_p.L8R|FCAR_ENST00000359272.4_Missense_Mutation_p.L8R	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	8					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGACCACCCTCCTGTGTCTT	0.463000													21	90					0	0	0.002299	0	0
ZNF675	171392	broad.mit.edu	37	19	23836932	23836932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:23836932G>A	ENST00000359788.4	-	4	971	c.803C>T	c.(802-804)tCc>tTc	p.S268F	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	268					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTAAA	0.353000													10	52					0	0	0.000978	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389876	136389876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:136389876G>A	ENST00000339996.3	-	1	192	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	TMEM8C_ENST00000413714.1_Intron	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	31						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCCTCCATGTGGAACCGCCTC	0.652000													11	38					0	0	0.000978	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30936114G>A	ENST00000355537.3	+	2	1792	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000													21	70					0	0	0.002780	0	0
PALD1	27143	broad.mit.edu	37	10	72300953	72300953	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72300953C>T	ENST00000263563.6	+	16	2272	c.2004C>T	c.(2002-2004)acC>acT	p.T668T		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGGGCCGTACCACAACTGCGA	0.612000													15	46					0	0	0.004990	0	0
DNAH7	56171	broad.mit.edu	37	2	196801391	196801391	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196801391G>A	ENST00000312428.6	-	20	3304	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1068	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAATCTGGGGAAAAAGAGGC	0.338000													15	31					0	0	0.007413	0	0
CCL1	6346	broad.mit.edu	37	17	32688885	32688885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:32688885G>A	ENST00000225842.3	-	2	176	c.107C>T	c.(106-108)tCa>tTa	p.S36L		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	36					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CTCCGCAAATGAGAAGCAACA	0.458000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	91					0	0	0.001882	0	0
SOGA2	23255	broad.mit.edu	37	18	8819049	8819049	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:8819049G>T	ENST00000359865.3	+	13	3090	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	SOGA2_ENST00000518815.1_Missense_Mutation_p.S308I|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1302I|SOGA2_ENST00000306285.7_Missense_Mutation_p.S308I|SOGA2_ENST00000517570.1_Missense_Mutation_p.S942I|SOGA2_ENST00000400050.3_Missense_Mutation_p.S942I	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1293																	CACCAGGGAAGCCTCCGCATG	0.572000													40	5					6.2361e-21	1.01632e-20	0.007835	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077676	32077676	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:32077676G>A	ENST00000354689.6	+	0	291				RP11-1166P10.6_ENST00000566806.1_RNA																							ATTACTGTGTGAAACACAGAG	0.562000													114	292					0	0	0.003610	0	0
CLEC2B	9976	broad.mit.edu	37	12	10005967	10005967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10005967C>T	ENST00000228438.2	-	5	1315	c.382G>A	c.(382-384)Gat>Aat	p.D128N	CLEC2B_ENST00000538152.1_Missense_Mutation_p.D59N	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	128	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCACCATCATCGCTGAGGTAG	0.418000													10	40					0	0	0.001368	0	0
NPY5R	4889	broad.mit.edu	37	4	164271428	164271428	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164271428G>A	ENST00000515560.1	+	4	1525	c.3G>A	c.(1-3)atG>atA	p.M1I	NPY5R_ENST00000338566.3_Start_Codon_SNP_p.M1I|NPY5R_ENST00000506953.1_Start_Codon_SNP_p.M1I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	1					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACTATAATATGGATTTAGAGC	0.343000													13	26					0	0	0.001368	0	0
CD300A	11314	broad.mit.edu	37	17	72469699	72469699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72469699G>A	ENST00000360141.3	+	2	353	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	22	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGCAAATGCAGGACCGTGGCG	0.587000													35	57					0	0	0.003214	0	0
NBEA	26960	broad.mit.edu	37	13	35756549	35756549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:35756549C>T	ENST00000540320.1	+	29	5249	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L	NBEA_ENST00000400445.3_Missense_Mutation_p.S1572L|NBEA_ENST00000379939.2_Missense_Mutation_p.S1569L|NBEA_ENST00000310336.4_Missense_Mutation_p.S1572L			Q8NFP9	NBEA_HUMAN	neurobeachin	1572						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACTTCATTTCGGTTCTGATG	0.373000													20	42					0	0	0.007413	0	0
XPC	7508	broad.mit.edu	37	3	14214555	14214555	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:14214555A>G	ENST00000285021.7	-	2	325	c.111T>C	c.(109-111)ttT>ttC	p.F37F	XPC_ENST00000449060.2_Silent_p.F37F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	37	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCATCTTCAAAGGCATCTA	0.507000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	2					0	0	0.004672	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827787	7827787	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7827787G>A	ENST00000303790.2	-	9	656	c.657C>T	c.(655-657)aaC>aaT	p.N219N		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	219						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCAGGCCCTGGTTGATGACAT	0.557000													11	37					0	0	0.001368	0	0
RGS12	6002	broad.mit.edu	37	4	3319347	3319347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:3319347C>T	ENST00000336727.3	+	2	2354	c.1450C>T	c.(1450-1452)Ccc>Tcc	p.P484S	RGS12_ENST00000344733.5_Missense_Mutation_p.P484S|RGS12_ENST00000543385.1_Missense_Mutation_p.P484S|RGS12_ENST00000382788.3_Missense_Mutation_p.P484S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	484						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAAGGGAGCCCCCCATTTGA	0.682000													23	34					0	0	0.004656	0	0
SLC12A1	6557	broad.mit.edu	37	15	48518707	48518707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48518707G>A	ENST00000380993.3	+	5	879	c.663G>A	c.(661-663)atG>atA	p.M221I	SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000330289.6_Missense_Mutation_p.M221I|SLC12A1_ENST00000558405.1_Missense_Mutation_p.M221I	NM_000338.2	NP_000329.2	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	221					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTCCACCATGGTAACTTCTA	0.388000													15	34					0	0	0.006122	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196208	52196208	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52196208G>A	ENST00000602324.1	-	0	501					NR_029482.1|NR_029693.1																						GACCCTGGGAGGAAGAGCCGG	0.652000													3	5					0	0	0.004672	0	0
TMEM37	140738	broad.mit.edu	37	2	120194767	120194767	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:120194767C>T	ENST00000306406.4	+	2	359	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.F120F	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	108						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGGAGTTCCTCATGGTGT	0.652000													23	55					0	0	0.002299	0	0
COBL	23242	broad.mit.edu	37	7	51111119	51111119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:51111119G>A	ENST00000395542.2	-	10	1797	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	COBL_ENST00000265136.7_Missense_Mutation_p.P456L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	456										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTCCCACAAGGGGCTCTTCTG	0.552000													45	111					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55534779C>T	ENST00000220676.1	+	3	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	240					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATACTTGCTTCCTGCTAGATT	0.463000													22	19					0	0	0.002780	0	0
ZNF793	390927	broad.mit.edu	37	19	38028479	38028479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38028479G>A	ENST00000445217.1	+	4	954	c.919G>A	c.(919-921)Gga>Aga	p.G307R	ZNF793_ENST00000542455.1_Missense_Mutation_p.G307R|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G307R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G307R(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACACACACAGGAGAGAGACC	0.458000													7	29					0	0	0.001984	0	0
OR8H3	390152	broad.mit.edu	37	11	55890114	55890114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55890114C>T	ENST00000313472.3	+	1	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTACTGACTTCCAACTATATT	0.428000													141	149					0	0	0.003610	0	0
FZD2	2535	broad.mit.edu	37	17	42636334	42636334	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42636334C>T	ENST00000315323.3	+	1	1410	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	426					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCTGTTCATCGGCACGTCCT	0.642000													26	78					0	0	0.005443	0	0
PSG5	5673	broad.mit.edu	37	19	43690519	43690519	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43690519G>A	ENST00000404580.1	-	1	127	c.39C>T	c.(37-39)atC>atT	p.I13I	PSG5_ENST00000407356.1_Silent_p.I13I|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Silent_p.I13I|PSG5_ENST00000407568.1_Silent_p.I13I|PSG5_ENST00000366175.3_Silent_p.I13I|PSG5_ENST00000342951.6_Silent_p.I13I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	13					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCTTCCAGGTGATGTGCTGTG	0.597000													34	101					0	0	0.007835	0	0
OR4K13	390433	broad.mit.edu	37	14	20502760	20502760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20502760G>A	ENST00000315693.2	-	1	159	c.158C>T	c.(157-159)tCg>tTg	p.S53L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGAAGGAGCGAATCAAAGGT	0.423000													18	21					0	0	0.007413	0	0
CHRM2	1129	broad.mit.edu	37	7	136700260	136700260	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700260G>A	ENST00000445907.2	+	3	1176	c.648G>A	c.(646-648)agG>agA	p.R216R	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.R216R|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.R216R|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.R216R|CHRM2_ENST00000397608.3_Silent_p.R216R|CHRM2_ENST00000320658.5_Silent_p.R216R|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	216					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCAAGAGCAGGATAAAGAAGG	0.478000													44	4					0	0	0.001951	0	0
RNF39	80352	broad.mit.edu	37	6	30043031	30043031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30043031G>A	ENST00000244360.6	-	1	633	c.536C>T	c.(535-537)cCc>cTc	p.P179L	RNF39_ENST00000376751.3_Missense_Mutation_p.P179L	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	179						cytoplasm	zinc ion binding										GCCCATGGTGGGGATGCGCCC	0.711000													10	20					0	0	0.001855	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004536	18004536	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18004536C>T	ENST00000222248.3	+	15	2129	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	594					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGAAGAACTCCCCACTGGAA	0.582000													12	17					0	0	0.001855	0	0
PCBP2	5094	broad.mit.edu	37	12	53848587	53848587	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53848587G>A	ENST00000603815.1	+	2	353	c.3G>A	c.(1-3)atG>atA	p.M1I	PCBP2_ENST00000549863.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000541275.1_Start_Codon_SNP_p.M1I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000548933.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000359462.5_Start_Codon_SNP_p.M1I|PCBP2_ENST00000552819.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000437231.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000552296.2_Start_Codon_SNP_p.M1I|PCBP2_ENST00000455667.3_Start_Codon_SNP_p.M1I|PCBP2_ENST00000359282.5_Start_Codon_SNP_p.M1I|PCBP2_ENST00000546463.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000439930.3_Start_Codon_SNP_p.M1I	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	1					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGCTCGACATGGACACCGGTG	0.463000													30	71					0	0	0.001786	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980215	6980215	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:6980215G>A	ENST00000576617.1	-	4	545	c.276C>T	c.(274-276)tcC>tcT	p.S92S	CLEC10A_ENST00000254868.4_Silent_p.S92S|CLEC10A_ENST00000571664.1_Silent_p.S92S|CLEC10A_ENST00000416562.2_Silent_p.S92S			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	92					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACTCACCCTGGGAAGTCAGTG	0.562000													39	53					0	0	0.001951	0	0
ATG2A	23130	broad.mit.edu	37	11	64669577	64669577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64669577G>A	ENST00000421419.2	-	29	4096	c.3982C>T	c.(3982-3984)Cct>Tct	p.P1328S	ATG2A_ENST00000377264.3_Missense_Mutation_p.P1326S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1326							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGTGGTGAAGGGGGTGGGGCC	0.622000													21	72					0	0	0.002299	0	0
KIF5A	3798	broad.mit.edu	37	12	57963333	57963333	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57963333G>A	ENST00000455537.2	+	11	1258	c.984G>A	c.(982-984)aaG>aaA	p.K328K	KIF5A_ENST00000286452.5_Silent_p.K239K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	328	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGACCATTAAGAACACTGCCT	0.493000													47	536					0	0	0.003610	0	0
THEMIS	387357	broad.mit.edu	37	6	128134948	128134948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128134948C>T	ENST00000368250.1	-	5	1099	c.601G>A	c.(601-603)Gag>Aag	p.E201K	THEMIS_ENST00000368248.2_Missense_Mutation_p.E280K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E280K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E245K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	280	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGGGAACTCTTTACTAGTC	0.408000													69	19					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927982	9927982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9927982C>T	ENST00000396573.2	-	9	2066	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R586K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R586K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R586K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R429K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R586K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	586					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTAAGTTTCTGTTGTATCC	0.388000													72	71					0	0	0.003610	0	0
CDSN	1041	broad.mit.edu	37	6	31083859	31083859	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31083859G>A	ENST00000376288.2	-	2	1559	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	511					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CAGCTAGCTGGGGCCCCAGAG	0.562000													20	84					0	0	0.002299	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990831	39990831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:39990831C>T	ENST00000332312.3	-	4	1570	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	460						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACTCCCCACCCCCCCATGTCC	0.637000													47	77					0	0	0.003610	0	0
LGALS12	85329	broad.mit.edu	37	11	63283740	63283740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63283740G>A	ENST00000415491.2	+	8	1317	c.703G>A	c.(703-705)Gga>Aga	p.G235R	LGALS12_ENST00000425950.2_Missense_Mutation_p.G226R|LGALS12_ENST00000394618.3_Missense_Mutation_p.G296R|LGALS12_ENST00000340246.5_Missense_Mutation_p.G297R|LGALS12_ENST00000255684.5_Missense_Mutation_p.G287R	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	296	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTTCCAGGAGGGAGGGCTGAA	0.632000													15	25					0	0	0.004990	0	0
SH3TC2	79628	broad.mit.edu	37	5	148408018	148408018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:148408018C>T	ENST00000515425.1	-	11	1378	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	SH3TC2_ENST00000394358.2_Missense_Mutation_p.S311N|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S419N|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000513340.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	426							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCAGGCTGGAGTCCTC	0.622000													8	74					0	0	0.003080	0	0
EPYC	1833	broad.mit.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:91358040G>A	ENST00000261172.3	-	7	954	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363000													11	16					0	0	0.002450	0	0
ZNF536	9745	broad.mit.edu	37	19	30935299	30935299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30935299C>T	ENST00000355537.3	+	2	977	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCCGCTGTACCTTCTGCAAG	0.667000													13	13					0	0	0.001855	0	0
MICALCL	84953	broad.mit.edu	37	11	12313835	12313835	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:12313835C>T	ENST00000256186.2	+	2	411	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	40	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ATGGTTCCTCCCCGCCTCAGG	0.527000													22	6					0	0	0.002299	0	0
CSMD2	114784	broad.mit.edu	37	1	34383840	34383840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34383840G>A	ENST00000373381.4	-	5	951	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	219	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTCCGAGGGGAAGTGGGGG	0.582000													7	16					0	0	0.003080	0	0
COL6A2	1292	broad.mit.edu	37	21	47545416	47545416	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47545416C>T	ENST00000300527.4	+	25	1958	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	COL6A2_ENST00000409416.1_Silent_p.F618F|COL6A2_ENST00000397763.1_Silent_p.F618F|COL6A2_ENST00000310645.5_Silent_p.F618F|COL6A2_ENST00000357838.4_Silent_p.F618F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	618	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGTGGTCTTCGTCATCGACA	0.607000													12	47					0	0	0.003163	0	0
DNAH9	1770	broad.mit.edu	37	17	11666756	11666756	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11666756G>A	ENST00000262442.3	+	36	7063		c.e36-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTTTGCAGGTTTAAGAAG	0.512000													25	87					0	0	0.003330	0	0
DOCK5	80005	broad.mit.edu	37	8	25190120	25190120	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:25190120T>G	ENST00000276440.7	+	20	2047	c.2001_splice	c.e20-1	p.F668_splice		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	668	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TATCTTCAGTTTTTGCAAGAT	0.368000													5	9					0	0	0.000602	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697595	47697595	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47697595G>A	ENST00000397708.1	-	6	1958	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	MCM3AP_ENST00000291688.1_Silent_p.H568H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	568					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCGAATTGGTGGGCCTTTA	0.547000													17	71					0	0	0.001216	0	0
KPNB1	3837	broad.mit.edu	37	17	45753818	45753818	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45753818C>T	ENST00000290158.4	+	16	2363	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	KPNB1_ENST00000537679.1_Silent_p.P436P|KPNB1_ENST00000535458.2_Silent_p.P507P|KPNB1_ENST00000540627.1_Silent_p.P507P	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	652					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CCTTTAAACCCTTCCTGGGCA	0.418000													21	36					0	0	0.003330	0	0
OR5H2	79310	broad.mit.edu	37	3	98002019	98002019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98002019G>A	ENST00000355273.2	+	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAAACAGGATGATATCTCTGT	0.373000													74	62					0	0	0.003610	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833802	160833802	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160833802G>A	ENST00000283243.7	-	15	2600	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	PLA2R1_ENST00000392771.1_Silent_p.I798I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	798					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCTCTTGGGATTTTGCATA	0.348000													6	26					0	0	0.001984	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652649	62652649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:62652649G>A	ENST00000337910.5	-	5	738	c.401C>T	c.(400-402)cCc>cTc	p.P134L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P134L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	134	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGGATAACGGGTGTTCGAGG	0.493000													12	62					0	0	0.002450	0	0
ZAN	7455	broad.mit.edu	37	7	100389760	100389760	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100389760C>T	ENST00000542585.1	+	0	7847				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCCCCAGAGCCCTTCCAAGA	0.662000													4	20					0	0	0.001168	0	0
ZFAT	57623	broad.mit.edu	37	8	135614441	135614441	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:135614441G>A	ENST00000520727.1	-	7	1784	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ZFAT_ENST00000377838.3_Silent_p.I507I|ZFAT_ENST00000429442.2_Silent_p.I495I|ZFAT_ENST00000520356.1_Silent_p.I495I|ZFAT_ENST00000520214.1_Silent_p.I495I|ZFAT_ENST00000523399.1_Silent_p.I445I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCTTGCTGGATGTCCCCAC	0.602000													15	14					0	0	0.004007	0	0
DSG2	1829	broad.mit.edu	37	18	29121276	29121276	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29121276A>G	ENST00000261590.8	+	13	2209	c.2001_splice	c.e13+1	p.K667_splice		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	667					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTGAAGACAAGGTCAGTGGA	0.463000													7	22					0	0	0.004482	0	0
PCF11	51585	broad.mit.edu	37	11	82880377	82880377	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:82880377C>T	ENST00000298281.4	+	8	3452	c.3000C>T	c.(2998-3000)gtC>gtT	p.V1000V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1000	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCCCTTTAGTCCAACAAGGAG	0.502000													14	30					0	0	0.004007	0	0
TAOK2	9344	broad.mit.edu	37	16	29994970	29994970	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29994970C>A	ENST00000308893.4	+	13	2450	c.1407C>A	c.(1405-1407)atC>atA	p.I469I	TAOK2_ENST00000416441.2_Silent_p.I296I|TAOK2_ENST00000279394.3_Silent_p.I469I|TAOK2_ENST00000543033.1_Silent_p.I469I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	469					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TTGCCACCATCCGAACCGCCT	0.592000													58	156					7.82978e-24	1.27667e-23	0.003610	1	0
ZFYVE20	64145	broad.mit.edu	37	3	15124055	15124055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15124055G>A	ENST00000253699.3	-	9	1272	c.659C>T	c.(658-660)cCc>cTc	p.P220L	ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P220L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	220	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACACTGTTGGGTGACTGGCT	0.602000													26	19					0	0	0.006320	0	0
PHF12	57649	broad.mit.edu	37	17	27240101	27240101	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27240101G>A	ENST00000577226.1	-	9	1834	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	PHF12_ENST00000332830.4_Silent_p.C496C|PHF12_ENST00000268756.3_Silent_p.C496C|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	496	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCCCTGAGGGGCAGGACAAGG	0.547000													21	64					0	0	0.001882	0	0
VWA3B	200403	broad.mit.edu	37	2	98846523	98846523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:98846523G>A	ENST00000477737.1	+	16	2365	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	721								p.E721K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATCAAAAGGAAATCTGTTC	0.358000													32	23					0	0	0.006230	0	0
PLOD1	5351	broad.mit.edu	37	1	12012793	12012793	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12012793G>T	ENST00000196061.4	+	5	606		c.e5+1		PLOD1_ENST00000376369.3_Splice_Site|PLOD1_ENST00000485046.1_Splice_Site	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1						epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGAGAAGAGGGTAAGAGGCAG	0.632000													20	19					1.50039e-11	2.43512e-11	0.001882	1	0
SLC4A7	9497	broad.mit.edu	37	3	27436188	27436188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:27436188G>A	ENST00000295736.5	-	20	2981	c.2911C>T	c.(2911-2913)Cca>Tca	p.P971S	SLC4A7_ENST00000440156.1_Missense_Mutation_p.P967S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P852S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P856S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P980S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P847S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P852S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P963S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P967S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P521S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	971						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACAAACCATGGAAGTCCCATG	0.423000													15	39					0	0	0.004007	0	0
GRM8	2918	broad.mit.edu	37	7	126173412	126173412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:126173412C>T	ENST00000339582.2	-	9	2832	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R675Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R675Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	675					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCAAATATTCGGTGGATACG	0.502000										HNSCC(24;0.065)			18	128					0	0	0.001216	0	0
OR2M4	26245	broad.mit.edu	37	1	248402698	248402698	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248402698G>A	ENST00000306687.1	+	1	468	c.468G>A	c.(466-468)ggG>ggA	p.G156G		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CTCTTGATGGGATCATAGTGC	0.458000													32	105					0	0	0.002445	0	0
MYO3A	53904	broad.mit.edu	37	10	26377302	26377302	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26377302C>T	ENST00000265944.5	+	15	1696	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	MYO3A_ENST00000543632.1_Silent_p.L510L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	510	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGAATATCTCCTGGAAAAAT	0.348000													7	29					0	0	0.004482	0	0
SYTL1	84958	broad.mit.edu	37	1	27677430	27677430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:27677430C>T	ENST00000543823.1	+	10	1613	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.P372L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	384					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGCTCCCCCTGCAGCCC	0.687000													14	20					0	0	0.003163	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827093	79827093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79827093G>A	ENST00000269321.7	-	5	506	c.371C>T	c.(370-372)tCc>tTc	p.S124F	ARHGDIA_ENST00000580685.1_Missense_Mutation_p.S124F|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.S124F|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.S124F|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.S124F	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	124					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTCATGCCGGACACTATCTC	0.657000													30	28					0	0	0.002096	0	0
THRAP3	9967	broad.mit.edu	37	1	36769490	36769490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36769490C>T	ENST00000354618.5	+	12	2964	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	THRAP3_ENST00000469141.2_Missense_Mutation_p.R914W	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	914					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTCATGTTCCGGAAATCAAG	0.607000			T	USP6	aneurysmal bone cysts								16	21					0	0	0.004007	0	0
ZNF81	347344	broad.mit.edu	37	X	47774358	47774358	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47774358A>G	ENST00000376954.1	+	6	681	c.313A>G	c.(313-315)Att>Gtt	p.I105V	ZNF81_ENST00000338637.7_Missense_Mutation_p.I105V			P51508	ZNF81_HUMAN	zinc finger protein 81	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CCAGAGGAGAATTTCTGGGAA	0.348000													22	4					0	0	0.003954	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908410	24908410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:24908410G>A	ENST00000396432.2	-	9	2900	c.2414C>T	c.(2413-2415)cCa>cTa	p.P805L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P592L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	804					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACCTATAAATGGGATGGAAGC	0.418000													25	38					0	0	0.005443	0	0
KCNT2	343450	broad.mit.edu	37	1	196398838	196398838	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196398838A>G	ENST00000367433.5	-	9	789	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L	KCNT2_ENST00000367431.4_Missense_Mutation_p.F230L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.F230L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	230						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						AGGGAGTCAAAGAGATTCAGC	0.388000													4	18					0	0	0.000248	0	0
SAP130	79595	broad.mit.edu	37	2	128699649	128699649	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128699649G>A	ENST00000357702.5	-	21	3314	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	SAP130_ENST00000259235.3_Silent_p.V1026V|SAP130_ENST00000259234.6_Silent_p.V1034V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1026					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GCAGCTTCAGGACACGGTCTT	0.408000													25	84					0	0	0.006320	0	0
GRAMD4	23151	broad.mit.edu	37	22	47022827	47022827	+	Missense_Mutation	SNP	C	C	T	rs140068081		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:47022827C>T	ENST00000406902.1	+	2	344	c.131C>T	c.(130-132)tCg>tTg	p.S44L	GRAMD4_ENST00000490378.1_Intron|GRAMD4_ENST00000361034.3_Missense_Mutation_p.S44L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	44					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCGCGGACCTCGCCCCGGGAC	0.642000													20	90					0	0	0.002299	0	0
HIC2	23119	broad.mit.edu	37	22	21800874	21800874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:21800874G>A	ENST00000443632.2	+	2	2062	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	HIC2_ENST00000407464.2_Missense_Mutation_p.D564N|HIC2_ENST00000407598.2_Missense_Mutation_p.D564N			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	564					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTTCGCCTGCGATGAGTGTGG	0.632000													45	6					0	0	0.003610	0	0
FAM179A	165186	broad.mit.edu	37	2	29221030	29221030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29221030C>T	ENST00000379558.4	+	3	401	c.50C>T	c.(49-51)gCc>gTc	p.A17V	FAM179A_ENST00000403861.2_Missense_Mutation_p.A17V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	17							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCCCCGTGGCCGTGTACTGC	0.632000													8	6					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152690746	152690746	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:152690746G>A	ENST00000367255.5	-	60	10112	c.9511C>T	c.(9511-9513)Cta>Tta	p.L3171L	SYNE1_ENST00000341594.5_Silent_p.L3210L|SYNE1_ENST00000265368.4_Silent_p.L3171L|SYNE1_ENST00000448038.1_Silent_p.L3178L|SYNE1_ENST00000423061.1_Silent_p.L3178L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3171					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATCTTTAGATTCTGCAAG	0.438000										HNSCC(10;0.0054)			17	7					0	0	0.004990	0	0
PSD	5662	broad.mit.edu	37	10	104173533	104173533	+	Missense_Mutation	SNP	G	G	A	rs144187898	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104173533G>A	ENST00000020673.5	-	5	2072	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F	PSD_ENST00000406432.1_Missense_Mutation_p.L516F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	516	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACCTGCCAAGGGGTGCTGCC	0.612000													10	30					0	0	0.001368	0	0
IPO4	79711	broad.mit.edu	37	14	24654167	24654167	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24654167G>A	ENST00000354464.6	-	15	1604	c.1428C>T	c.(1426-1428)taC>taT	p.Y476Y	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	476					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCTCCGGAAGGTAGGGCTGCA	0.617000													10	37					0	0	0.001368	0	0
TRIP12	9320	broad.mit.edu	37	2	230661346	230661346	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:230661346G>A	ENST00000283943.5	-	24	3730	c.3552C>T	c.(3550-3552)atC>atT	p.I1184I	TRIP12_ENST00000389045.3_Silent_p.I914I|TRIP12_ENST00000389044.4_Silent_p.I1232I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTTTAATCTGATCTCTCTGC	0.333000													11	19					0	0	0.003163	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858742	9858742	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9858742G>A	ENST00000396573.2	-	14	2968	c.2659C>T	c.(2659-2661)Ctg>Ttg	p.L887L	GRIN2A_ENST00000404927.2_Silent_p.L887L|GRIN2A_ENST00000396575.2_Silent_p.L887L|GRIN2A_ENST00000330684.3_Silent_p.L887L|GRIN2A_ENST00000535259.1_Silent_p.L730L|GRIN2A_ENST00000562109.1_Silent_p.L887L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	887					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCCCGTCAGATTGAAGTCT	0.473000													32	103					0	0	0.002096	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:63726795C>T	ENST00000421025.1	+	5	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000													34	22					0	0	0.003755	0	0
IPO4	79711	broad.mit.edu	37	14	24653526	24653526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24653526C>T	ENST00000354464.6	-	17	1911	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	579					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AAGTCAGGGTCGTCTACCTGG	0.667000													4	6					0	0	0.000248	0	0
CHUK	1147	broad.mit.edu	37	10	101969473	101969473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101969473G>A	ENST00000370397.7	-	10	1093	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	336					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGACTGTAGTGAATGAAGACT	0.363000													27	20					0	0	0.005443	0	0
CD4	920	broad.mit.edu	37	12	6927708	6927708	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6927708G>A	ENST00000011653.4	+	8	1536	c.1278_splice	c.e8+1	p.R426_splice		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	426					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GGCACCGAAGGGTGAGTAACC	0.597000													24	11					0	0	0.004656	0	0
VIPAS39	63894	broad.mit.edu	37	14	77904188	77904188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:77904188G>A	ENST00000553888.1	-	12	1309	c.799C>T	c.(799-801)Cct>Tct	p.P267S	VIPAS39_ENST00000343765.2_Missense_Mutation_p.P267S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.P267S|VIPAS39_ENST00000448935.2_Missense_Mutation_p.P218S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.P254S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.P293S	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CGTTTGTCAGGGTCCTGAATG	0.353000													22	12					0	0	0.003954	0	0
PEG3	5178	broad.mit.edu	37	19	57325127	57325127	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57325127C>T	ENST00000326441.9	-	10	5046	c.4683G>A	c.(4681-4683)gaG>gaA	p.E1561E	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.E1437E|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.E1435E|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.E1561E|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1561					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAAGTACTTCTCATCAGCTT	0.542000													22	75					0	0	0.001882	0	0
NPAP1	23742	broad.mit.edu	37	15	24922582	24922582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:24922582C>T	ENST00000329468.2	+	1	2042	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGTGTGGATTCCCCTCCTCCT	0.547000													98	100					0	0	0.003610	0	0
NACA	4666	broad.mit.edu	37	12	57114431	57114431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57114431G>A	ENST00000454682.1	-	3	1164	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P295S|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTGTTGGGACCCGCAGTC	0.502000			T	BCL6	NHL								15	138					0	0	0.003163	0	0
DOCK2	1794	broad.mit.edu	37	5	169506038	169506038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169506038C>T	ENST00000256935.8	+	49	5134	c.5054C>T	c.(5053-5055)tCc>tTc	p.S1685F	DOCK2_ENST00000520908.1_Missense_Mutation_p.S1177F|DOCK2_ENST00000540750.1_Missense_Mutation_p.S746F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1685					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAACCGATCTCCCCGGGGAGC	0.557000													53	78					0	0	0.003610	0	0
EML1	2009	broad.mit.edu	37	14	100344907	100344907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:100344907C>T	ENST00000262233.6	+	4	608	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	EML1_ENST00000334192.4_Missense_Mutation_p.R176C|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Missense_Mutation_p.R145C	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	157						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAACCGGAATCGCACAGGCTC	0.507000													62	15					0	0	0.003610	0	0
MAT1A	4143	broad.mit.edu	37	10	82034920	82034920	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:82034920C>T	ENST00000372213.3	-	7	1064	c.804G>A	c.(802-804)gtG>gtA	p.V268V	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	268					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CATAGGTGTCCACAATAATCT	0.597000													7	16					0	0	0.006214	0	0
BRD4	23476	broad.mit.edu	37	19	15367916	15367916	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15367916G>A	ENST00000263377.2	-	8	1631	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	BRD4_ENST00000360016.5_Silent_p.S470S|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.S470S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	470					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCACTGCCGGGGAGGACACGG	0.622000			T	C15orf55	lethal midline carcinoma of young people								12	21					0	0	0.001368	0	0
CWC25	54883	broad.mit.edu	37	17	36962603	36962603	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:36962603G>A	ENST00000225428.4	-	8	1245	c.948C>T	c.(946-948)agC>agT	p.S316S	CWC25_ENST00000536127.1_Silent_p.S253S	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	316										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TAGGTGATGGGCTCCTAGTTT	0.502000													24	22					0	0	0.006320	0	0
SYAP1	94056	broad.mit.edu	37	X	16775304	16775304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:16775304C>T	ENST00000380155.3	+	8	896	c.803C>T	c.(802-804)aCt>aTt	p.T268I		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	268										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAAATTTCTACTAGCCCAGGT	0.393000													85	15					0	0	0.003610	0	0
SSBP2	23635	broad.mit.edu	37	5	80762802	80762802	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:80762802C>A	ENST00000320672.4	-	9	839	c.629G>T	c.(628-630)gGa>gTa	p.G210V	SSBP2_ENST00000509053.1_Missense_Mutation_p.G180V|SSBP2_ENST00000505980.1_Missense_Mutation_p.G190V|SSBP2_ENST00000514493.1_Missense_Mutation_p.G180V|SSBP2_ENST00000515395.1_Missense_Mutation_p.G188V	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	210	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CATGTTCATTCCAGGCATTCC	0.333000													32	19					9.17885e-22	1.49628e-21	0.003271	1	0
CDH4	1002	broad.mit.edu	37	20	60448830	60448830	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60448830C>T	ENST00000360469.5	+	7	1012	c.924C>T	c.(922-924)acC>acT	p.T308T	CDH4_ENST00000543233.1_Silent_p.T234T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	308	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGACAGCACCACGGCCAACG	0.607000													48	80					0	0	0.003214	0	0
TET1	80312	broad.mit.edu	37	10	70332986	70332986	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:70332986C>T	ENST00000373644.4	+	2	1100	c.891C>T	c.(889-891)taC>taT	p.Y297Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	297					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGATTGCTACCCCACCTCCA	0.418000													22	90					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9049655	9049655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9049655G>A	ENST00000397910.4	-	5	32179	c.31976C>T	c.(31975-31977)tCg>tTg	p.S10659L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10661	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTGTCCCCGAAATAGTGAC	0.498000													17	44					0	0	0.004990	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455097	74455097	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:74455097G>A	ENST00000339953.5	-	1	193	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	24						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCTGCCCAGGTGGTGCCAA	0.667000													24	92					0	0	0.003954	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74648914	74648914	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:74648914C>T	ENST00000541184.1	-	6	1052	c.576_splice	c.e6+1	p.R192_splice	ZDHHC15_ENST00000373367.3_Splice_Site_p.R201_splice|ZDHHC15_ENST00000373361.3_Intron	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	201						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTAACTTACTCTCCAGTATTT	0.373000													5	14					0	0	0.000602	0	0
CEP170	9859	broad.mit.edu	37	1	243333023	243333023	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:243333023C>A	ENST00000366542.1	-	12	1801	c.1750G>T	c.(1750-1752)Gtt>Ttt	p.V584F	CEP170_ENST00000366544.1_Missense_Mutation_p.V486F|CEP170_ENST00000366543.1_Missense_Mutation_p.V486F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	584						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACTGTGAAACCCAACGTTTG	0.398000													14	31					1.49906e-05	2.4159e-05	0.002450	1	0
HEPH	9843	broad.mit.edu	37	X	65414953	65414953	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:65414953G>A	ENST00000519389.1	+	9	1724	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	HEPH_ENST00000374727.3_Silent_p.R464R|HEPH_ENST00000419594.1_Silent_p.R464R|HEPH_ENST00000441993.2_Silent_p.R464R|HEPH_ENST00000343002.2_Silent_p.R461R|HEPH_ENST00000336279.5_Silent_p.R194R			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGTGATCCGGGCTGAGGTGG	0.502000													23	9					0	0	0.007291	0	0
CENPE	1062	broad.mit.edu	37	4	104029962	104029962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:104029962G>A	ENST00000265148.3	-	48	8098	c.8009C>T	c.(8008-8010)cCa>cTa	p.P2670L	CENPE_ENST00000380026.3_Missense_Mutation_p.P2549L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2670	Globular autoinhibitory domain (By similarity).				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)		TTACTTACCTGGACAAAGGCC	0.358000													5	5					0	0	0.000602	0	0
S100A12	6283	broad.mit.edu	37	1	153346438	153346438	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153346438G>A	ENST00000368737.3	-	3	261	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	48	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTTTATCTTTGATATTCTAGG	0.443000													26	31					0	0	0.006320	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552732	117552732	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117552732C>T	ENST00000374045.4	-	4	869	c.756G>A	c.(754-756)taG>taA	p.*252*	TNFSF15_ENST00000374044.1_Silent_p.*175*	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	0					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGCTCTCCTCCTATAGTAAGA	0.413000													23	38					0	0	0.002780	0	0
ATP13A3	79572	broad.mit.edu	37	3	194169326	194169326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:194169326G>A	ENST00000439040.1	-	12	1801	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P337L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	337					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATCCACTGAAGGATTTGGCAA	0.333000													13	34					0	0	0.004007	0	0
NRXN2	9379	broad.mit.edu	37	11	64375221	64375221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64375221G>A	ENST00000265459.6	-	23	5047	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	NRXN2_ENST00000409571.1_Missense_Mutation_p.P1522L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P1529L|NRXN2_ENST00000301894.2_Missense_Mutation_p.P483L|NRXN2_ENST00000377559.3_Missense_Mutation_p.P1459L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1529					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTTTGCGGGGTGACAGGAG	0.711000													3	1					0	0	0.004672	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444353	84444353	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84444353T>C	ENST00000416219.2	+	6	586	c.497T>C	c.(496-498)gTt>gCt	p.V166A	ATP2C2_ENST00000262429.4_Missense_Mutation_p.V166A|ATP2C2_ENST00000420010.2_Intron			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	166					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCAAGATGGTTCCTCCAGAA	0.507000													15	38					0	0	0.006122	0	0
ZNF300	91975	broad.mit.edu	37	5	150275551	150275551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150275551G>A	ENST00000446148.2	-	7	1725	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.A381V|ZNF300_ENST00000274599.5_Missense_Mutation_p.A417V|ZNF300_ENST00000394226.2_Missense_Mutation_p.A417V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACAGAAGGCTTTCCCACA	0.463000													35	20					0	0	0.003271	0	0
MYSM1	114803	broad.mit.edu	37	1	59126878	59126878	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:59126878G>A	ENST00000472487.1	-	19	2331	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	764					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCCGGCGAAAGATTTTATCCA	0.368000													6	21					0	0	0.003080	0	0
LGSN	51557	broad.mit.edu	37	6	63990162	63990162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:63990162G>A	ENST00000370657.4	-	4	1327	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	432					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTACTGCTATGAAGTCCATCT	0.483000													13	106					0	0	0.002450	0	0
HDAC9	9734	broad.mit.edu	37	7	18688206	18688206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18688206C>T	ENST00000406451.3	+	11	1508	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	HDAC9_ENST00000456174.2_Missense_Mutation_p.P425L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P376L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P451L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P409L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P440L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P453L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P453L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P456L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P412L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	453					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGTCTGCACCTTTGCCTCAG	0.507000													27	70					0	0	0.004656	0	0
GPR112	139378	broad.mit.edu	37	X	135428096	135428096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:135428096G>A	ENST00000394143.1	+	6	2522	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	GPR112_ENST00000394141.1_Missense_Mutation_p.G539E|GPR112_ENST00000370652.1_Missense_Mutation_p.G744E|GPR112_ENST00000287534.4_Missense_Mutation_p.G681E|GPR112_ENST00000412101.1_Missense_Mutation_p.G539E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	744					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAGTTTCTGGAACCACATCC	0.378000													35	3					0	0	0.003755	0	0
GPR153	387509	broad.mit.edu	37	1	6314159	6314159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:6314159C>T	ENST00000377893.2	-	3	664	c.405G>A	c.(403-405)tgG>tgA	p.W135*		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	135						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		AGGACACCATCCAGATACCCA	0.622000													20	12					0	0	0.002299	0	0
TMC7	79905	broad.mit.edu	37	16	19056754	19056754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19056754C>T	ENST00000421369.3	+	11	1775	c.1217C>T	c.(1216-1218)cCt>cTt	p.P406L	TMC7_ENST00000569532.1_Missense_Mutation_p.P516L|TMC7_ENST00000304381.5_Missense_Mutation_p.P516L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	516						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGGATTTTCCTAGAAAGTAA	0.498000													17	45					0	0	0.006122	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953616	45953616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45953616G>A	ENST00000323084.4	-	3	559	c.494C>T	c.(493-495)tCc>tTc	p.S165F	TSPEAR_ENST00000397916.1_Missense_Mutation_p.S97F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	165	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GACGCCTGCGGACACAGCCAG	0.692000													6	25					0	0	0.001168	0	0
TBX10	347853	broad.mit.edu	37	11	67402522	67402522	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67402522G>A	ENST00000335385.3	-	2	307	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	74					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCCTCCCACAGAGGCTTCATC	0.642000													15	17					0	0	0.004007	0	0
WWP2	11060	broad.mit.edu	37	16	69965483	69965483	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69965483G>A	ENST00000359154.2	+	15	1694	c.1593_splice	c.e15+1	p.Q531_splice	WWP2_ENST00000356003.2_Splice_Site_p.Q531_splice|WWP2_ENST00000542271.1_Splice_Site_p.Q415_splice|WWP2_ENST00000448661.1_Splice_Site_p.Q531_splice|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Splice_Site_p.Q92_splice	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	531					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTCCAACAGGTTAGATCAT	0.502000													21	58					0	0	0.006320	0	0
WDFY3	23001	broad.mit.edu	37	4	85617242	85617242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:85617242C>T	ENST00000322366.6	-	57	9138	c.8731G>A	c.(8731-8733)Gta>Ata	p.V2911I	WDFY3_ENST00000295888.4_Missense_Mutation_p.V2928I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2928	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGACATTTACAGCTTCTACT	0.408000													24	44					0	0	0.003954	0	0
ADCY2	108	broad.mit.edu	37	5	7626297	7626297	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:7626297C>T	ENST00000338316.4	+	4	677	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	196				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAATGTGATCATTTTCATCT	0.443000													21	153					0	0	0.002299	0	0
BTAF1	9044	broad.mit.edu	37	10	93771156	93771156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:93771156C>T	ENST00000265990.6	+	30	4603	c.4295C>T	c.(4294-4296)tCt>tTt	p.S1432F	BTAF1_ENST00000544642.1_Missense_Mutation_p.S260F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1432	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTATTCTTTCTGGAACACCA	0.308000													9	13					0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100391863	100391863	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100391863C>T	ENST00000542585.1	+	0	8318				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGAACCACACCCAAGGCTGC	0.647000													30	133					0	0	0.002096	0	0
TAC3	6866	broad.mit.edu	37	12	57406176	57406176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57406176G>A	ENST00000458521.2	-	6	512	c.353C>T	c.(352-354)cCg>cTg	p.P118L	TAC3_ENST00000441881.1_Missense_Mutation_p.P100L|TAC3_ENST00000415231.1_Missense_Mutation_p.P118L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	118					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCTGCTCTCGGGGGATACTT	0.527000													79	26					0	0	0.003610	0	0
NRG3	10718	broad.mit.edu	37	10	83635430	83635430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:83635430C>T	ENST00000404547.1	+	1	334	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	NRG3_ENST00000372141.2_Missense_Mutation_p.P112S			P56975	NRG3_HUMAN	neuregulin 3	112	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGCCAGGACCCCTTCTTCCT	0.647000													15	22					0	0	0.004007	0	0
OR2A14	135941	broad.mit.edu	37	7	143827081	143827081	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143827081G>A	ENST00000408899.2	+	1	931	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATAGCCTAAGGAATGCAGAGG	0.557000													226	27					0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128722309	128722309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:128722309C>T	ENST00000296464.3	+	5	857	c.446C>T	c.(445-447)aCt>aTt	p.T149I	HSPA4L_ENST00000505726.1_Missense_Mutation_p.T123I|HSPA4L_ENST00000508776.1_Missense_Mutation_p.T149I|HSPA4L_ENST00000439123.2_Missense_Mutation_p.T180I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	149					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGCTTTTTTACTGATGCCGAG	0.338000													15	40					0	0	0.007413	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315384	73315384	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:73315384C>T	ENST00000258098.6	-	3	1602	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	454					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GTTCCTCCTTCCGGGCTCCCT	0.652000													59	54					0	0	0.003610	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812288	140812288	+	Silent	SNP	C	C	T	rs13360857		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140812288C>T	ENST00000252085.3	+	1	2104	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCCTCTCTCCGCCACTG	0.682000													22	101					0	0	0.001882	0	0
ACAD9	28976	broad.mit.edu	37	3	128627937	128627937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128627937C>T	ENST00000308982.7	+	14	1561	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	494						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCACCCCAGTCTTGCGGTGAG	0.597000													13	14					0	0	0.001368	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800580	185800580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185800580C>T	ENST00000302277.6	+	4	1051	c.457C>T	c.(457-459)Caa>Taa	p.Q153*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	153						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAATTTCCCAACGAGTTGT	0.373000													14	13					0	0	0.003163	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198732	170198732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:170198732C>T	ENST00000231706.4	-	7	1654	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	447						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGTGTGCTCCTCAGACAAG	0.527000													37	39					0	0	0.003755	0	0
GABRA2	2555	broad.mit.edu	37	4	46252554	46252554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:46252554G>A	ENST00000510861.1	-	10	1300	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	GABRA2_ENST00000540012.1_Missense_Mutation_p.P381L|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAAGATTCGGGGCATAATT	0.418000													28	64					0	0	0.004656	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326294	25326294	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25326294G>A	ENST00000549804.2	+	0	1434																											CATCTTGTGTGATCCTTGGAG	0.502000													3	3					0	0	0.004672	0	0
OR9K2	441639	broad.mit.edu	37	12	55523961	55523961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55523961G>A	ENST00000305377.5	+	1	497	c.409G>A	c.(409-411)Gga>Aga	p.G137R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGACTGAGGGATTTCTCCT	0.498000													19	274					0	0	0.007413	0	0
CDH9	1007	broad.mit.edu	37	5	26903766	26903766	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:26903766C>A	ENST00000231021.4	-	6	1151	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTATAATCCCTTCCTGTGTA	0.403000													27	150					2.61193e-14	4.24638e-14	0.001786	1	0
ZNF324B	388569	broad.mit.edu	37	19	58967057	58967057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58967057C>T	ENST00000391696.1	+	3	1648	c.716C>T	c.(715-717)gCt>gTt	p.A239V	ZNF324B_ENST00000336614.4_Missense_Mutation_p.A249V|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A249V			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGCGAGGCTCTTCACGCT	0.642000													6	30					0	0	0.000673	0	0
STC2	8614	broad.mit.edu	37	5	172750263	172750263	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:172750263C>T	ENST00000265087.4	-	3	1774	c.465G>A	c.(463-465)gtG>gtA	p.V155V	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	155					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTCCACTATCACCCGGGTGT	0.612000													9	31					0	0	0.000673	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721977	24721977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:24721977G>A	ENST00000376454.3	+	4	637	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	KIAA1217_ENST00000376452.3_Missense_Mutation_p.E203K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E203K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E124K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E123K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	203					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GATGCCGAATGAAATCACAAG	0.483000													9	14					0	0	0.001855	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773458	35773458	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:35773458T>A	ENST00000360215.1	+	1	388	c.11T>A	c.(10-12)tTg>tAg	p.L4*	LHFPL5_ENST00000373853.1_Nonsense_Mutation_p.L4*	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	4						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ATGGTGAAATTGCTGCCGGCC	0.622000													16	44					0	0	0.007413	0	0
CPEB4	80315	broad.mit.edu	37	5	173372032	173372032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:173372032C>T	ENST00000265085.5	+	5	2799	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	CPEB4_ENST00000334035.5_Missense_Mutation_p.L432F|CPEB4_ENST00000522336.1_Missense_Mutation_p.L59F|CPEB4_ENST00000517880.1_Missense_Mutation_p.L42F|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.L424F|CPEB4_ENST00000519835.1_Missense_Mutation_p.L424F	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	449							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCCTCTTCATAGTGG	0.478000													38	85					0	0	0.005524	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714513	138714513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:138714513G>A	ENST00000389532.4	-	11	2058	c.1994C>T	c.(1993-1995)aCc>aTc	p.T665I	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T387I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T676I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	665						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTGTCTCGGTGGGGTCGAT	0.582000													18	13					0	0	0.004990	0	0
NOBOX	135935	broad.mit.edu	37	7	144098156	144098156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:144098156C>T	ENST00000467773.1	-	4	826	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NOBOX_ENST00000223140.5_Missense_Mutation_p.R191Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R276Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	276					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R276Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATAGGGTTCGTGTCTTTTT	0.542000													43	5					0	0	0.003610	0	0
NDRG2	57447	broad.mit.edu	37	14	21490298	21490298	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:21490298C>T	ENST00000556147.1	-	5	1207	c.267G>A	c.(265-267)caG>caA	p.Q89Q	NDRG2_ENST00000397858.1_Silent_p.Q89Q|NDRG2_ENST00000298687.5_Silent_p.Q89Q|NDRG2_ENST00000397847.2_Silent_p.Q89Q|NDRG2_ENST00000553503.1_Silent_p.Q75Q|NDRG2_ENST00000554143.1_Silent_p.Q75Q|NDRG2_ENST00000403829.3_Silent_p.Q85Q|NDRG2_ENST00000555158.1_Silent_p.Q75Q|NDRG2_ENST00000360463.3_Silent_p.Q75Q|NDRG2_ENST00000397855.3_Silent_p.Q75Q|NDRG2_ENST00000397856.3_Silent_p.Q75Q|NDRG2_ENST00000397851.2_Silent_p.Q89Q|NDRG2_ENST00000397853.3_Silent_p.Q89Q|NDRG2_ENST00000397844.2_Silent_p.Q75Q|NDRG2_ENST00000298684.5_Silent_p.Q75Q|NDRG2_ENST00000350792.3_Silent_p.Q75Q|NDRG2_ENST00000554104.1_Silent_p.Q2Q			Q9UN36	NDRG2_HUMAN	NDRG family member 2	89					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAATGATTTCCTGCATGTCCT	0.493000													43	38					0	0	0.002522	0	0
ADCK4	79934	broad.mit.edu	37	19	41208578	41208578	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41208578G>A	ENST00000324464.3	-	10	1121	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	ADCK4_ENST00000243583.6_Silent_p.L233L|ADCK4_ENST00000450541.1_Silent_p.L233L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	274	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AAGGCCTGCAGGCTCTGCTCG	0.642000											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	47					0	0	0.001216	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843839	40843839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40843839C>T	ENST00000264638.4	+	16	2577	c.2360C>T	c.(2359-2361)aCc>aTc	p.T787I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	787	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCCTGGAACACCATTTCCTTC	0.577000													190	240					0	0	0.003610	0	0
GNA15	2769	broad.mit.edu	37	19	3155833	3155833	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:3155833C>T	ENST00000262958.3	+	5	885	c.627C>T	c.(625-627)gtC>gtT	p.V209V		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCGTGGACGTCGGGGGCCAGA	0.577000													16	33					0	0	0.006122	0	0
KCNN3	3782	broad.mit.edu	37	1	154705554	154705554	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154705554G>A	ENST00000271915.3	-	4	1830	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	KCNN3_ENST00000361147.4_Silent_p.F200F|KCNN3_ENST00000358505.2_Silent_p.F192F	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	510						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAATGGAAAGGAATGTGATGG	0.522000													51	29					0	0	0.003610	0	0
ZNF438	220929	broad.mit.edu	37	10	31134208	31134208	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:31134208A>T	ENST00000538351.1	-	8	2776	c.2022T>A	c.(2020-2022)tgT>tgA	p.C674*	ZNF438_ENST00000436087.2_Nonsense_Mutation_p.C723*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.C723*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.C723*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.C287*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.C713*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.C713*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.C713*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.C723*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCAGTCTTGGACATGCATGTG	0.527000													21	16					0	0	0.001882	0	0
TLL1	7092	broad.mit.edu	37	4	167021925	167021925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:167021925C>T	ENST00000061240.2	+	21	3586	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L	TLL1_ENST00000507499.1_Missense_Mutation_p.S1003L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	980	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGAGATTCAGTTTTAATT	0.323000													59	49					0	0	0.003610	0	0
VSIG10	54621	broad.mit.edu	37	12	118520187	118520187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:118520187G>A	ENST00000359236.5	-	3	685	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	137	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGCCGTTGGGGAGTGTGCCG	0.597000													33	7					0	0	0.002445	0	0
KRT33A	3883	broad.mit.edu	37	17	39506774	39506774	+	Silent	SNP	C	C	T	rs61736449	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39506774C>T	ENST00000007735.3	-	1	290	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784).		intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602000													47	47					0	0	0.003610	0	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489118	99489118	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:99489118C>T	ENST00000602289.1	+	0	107																											CCAAGTGAGTCCTGGGTGGAG	0.448000													19	10					0	0	0.001882	0	0
BEST3	144453	broad.mit.edu	37	12	70048710	70048710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70048710C>T	ENST00000330891.5	-	10	2210	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	BEST3_ENST00000553096.1_Missense_Mutation_p.E556K|BEST3_ENST00000488961.1_Missense_Mutation_p.E449K|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	662						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCTCAGTTTCCTTGTTCAGC	0.453000													15	139					0	0	0.004990	0	0
GCOM1	145781	broad.mit.edu	37	15	58006751	58006751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:58006751C>T	ENST00000380568.3	+	13	1324	c.1322C>T	c.(1321-1323)tCg>tTg	p.S441L	GCOM1_ENST00000587652.1_Silent_p.L724L|GCOM1_ENST00000380569.2_Silent_p.L509L|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_Silent_p.L170L|POLR2M_ENST00000299638.3_Silent_p.L327L	NM_001018091.4	NP_001018101.1	P0CAP1	GCOM1_HUMAN		49					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGCAAAGCTCGCAGCGCAAA	0.398000													38	58					0	0	0.006230	0	0
HNF4G	3174	broad.mit.edu	37	8	76470902	76470902	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:76470902C>A	ENST00000396423.2	+	7	977	c.853C>A	c.(853-855)Cca>Aca	p.P285T	HNF4G_ENST00000354370.1_Missense_Mutation_p.P248T	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	248					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTTTTTGATCCAGGTTGGTT	0.303000													48	57					1.72845e-40	2.82521e-40	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189855751	189855751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:189855751G>A	ENST00000304636.3	+	11	990	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E274K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	274	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGAAATGGAGAAAAGGGTGA	0.284000													27	60					0	0	0.004289	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132744	52132744	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52132744G>A	ENST00000222107.4	-	3	705	c.567C>T	c.(565-567)gaC>gaT	p.D189D	SIGLEC5_ENST00000429354.3_Silent_p.D189D|SIGLEC5_ENST00000599649.1_Silent_p.D189D|SIGLEC5_ENST00000570106.2_Silent_p.D189D|SIGLEC5_ENST00000534261.2_Silent_p.D189D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	189	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTCTCGGGGTCCAGGGGGC	0.657000													12	6					0	0	0.006122	0	0
WNK4	65266	broad.mit.edu	37	17	40946635	40946635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40946635G>A	ENST00000246914.5	+	13	2320	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	767					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCTCAGGAGGAGCCAGCACC	0.577000													10	16					0	0	0.000673	0	0
LMX1A	4009	broad.mit.edu	37	1	165322368	165322368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:165322368C>T	ENST00000342310.3	-	3	590	c.208G>A	c.(208-210)Gag>Aag	p.E70K	LMX1A_ENST00000294816.2_Missense_Mutation_p.E70K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E70K	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	70	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGGTGGTCTCCAGGGGCTCT	0.612000													63	26					0	0	0.003610	0	0
MUC7	4589	broad.mit.edu	37	4	71347503	71347503	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71347503A>G	ENST00000413702.1	+	4	1330	c.1042A>G	c.(1042-1044)Act>Gct	p.T348A	MUC7_ENST00000456088.1_Missense_Mutation_p.T348A|MUC7_ENST00000304887.5_Missense_Mutation_p.T348A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	348	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TAAACAACCAACTTCAGCTCC	0.388000													26	33					0	0	0.003954	0	0
ISM1	140862	broad.mit.edu	37	20	13280026	13280026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13280026C>T	ENST00000262487.3	+	6	1321	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	439	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGCCCGGCCTCCCAACAACGG	0.567000													16	38					0	0	0.004007	0	0
ATF6B	1388	broad.mit.edu	37	6	32095928	32095928	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32095928G>T	ENST00000375201.4	-	1	102	c.57C>A	c.(55-57)gaC>gaA	p.D19E	ATF6B_ENST00000375203.3_Missense_Mutation_p.D19E|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	19	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TAAGCAGGTTGTCGGTGAAGA	0.652000													115	222					1.14069e-62	1.86541e-62	0.003610	1	0
CYP1A2	1544	broad.mit.edu	37	15	75044490	75044490	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:75044490G>A	ENST00000343932.4	+	5	1131	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGGAGCGGCGGCCCCGGCTCT	0.592000													73	73					0	0	0.003610	0	0
TECPR2	9895	broad.mit.edu	37	14	102891506	102891506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102891506C>T	ENST00000359520.7	+	6	1055	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.P277S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	277							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGGAATCCCCCAACAGTGG	0.493000													47	18					0	0	0.003610	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735781	12735781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:12735781C>T	ENST00000380682.1	+	16	3342	c.2836C>T	c.(2836-2838)Ctt>Ttt	p.L946F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	946					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTACCACCCCCTTGCAGAAGA	0.587000													33	69					0	0	0.005524	0	0
PIGQ	9091	broad.mit.edu	37	16	624464	624464	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:624464C>T	ENST00000321878.5	+	2	549	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PIGQ_ENST00000409527.2_Silent_p.F130F|PIGQ_ENST00000470411.2_Silent_p.F130F|PIGQ_ENST00000026218.5_Silent_p.F130F	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	130					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCTCATCTTCTATGACCAGC	0.697000													3	12					0	0	0.004672	0	0
DUOX2	50506	broad.mit.edu	37	15	45398341	45398341	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45398341G>A	ENST00000389039.6	-	17	2515	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	DUOX2_ENST00000603300.1_Silent_p.I710I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	710					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACTCCTTAGGGATCTTGAGCA	0.597000													16	12					0	0	0.007413	0	0
THG1L	54974	broad.mit.edu	37	5	157161590	157161590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:157161590C>T	ENST00000599823.1	-	2	135	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	THG1L_ENST00000231198.7_Silent_p.F125F																							CAAGTAAGTTCATGACTCACG	0.458000													45	155					0	0	0.003610	0	0
DOCK11	139818	broad.mit.edu	37	X	117680003	117680003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:117680003C>T	ENST00000276204.6	+	6	556	c.482C>T	c.(481-483)tCt>tTt	p.S161F	DOCK11_ENST00000276202.7_Missense_Mutation_p.S161F			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	161					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTTTATGTTCTCAGAAGGGT	0.363000													37	6					0	0	0.006230	0	0
MIR523	574471	broad.mit.edu	37	19	54201701	54201701	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54201701C>T	ENST00000385281.1	+	0	63					NR_030193.1																						GAACGCGCTTCCCTATAGAGG	0.443000													13	46					0	0	0.002450	0	0
NINL	22981	broad.mit.edu	37	20	25442247	25442247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:25442247C>T	ENST00000278886.6	-	21	3680	c.3607G>A	c.(3607-3609)Gtt>Att	p.V1203I	NINL_ENST00000422516.1_Missense_Mutation_p.V854I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1203					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCAAGTTCAACTCTAAGTTTT	0.438000													36	32					0	0	0.006230	0	0
FXYD3	5349	broad.mit.edu	37	19	35614187	35614187	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:35614187G>T	ENST00000435734.2	+	8	559	c.300G>T	c.(298-300)ggG>ggT	p.G100G	FXYD3_ENST00000406988.1_Silent_p.G74G|FXYD3_ENST00000344013.6_Silent_p.G74G|FXYD3_ENST00000346446.5_Silent_p.G100G|FXYD3_ENST00000604621.1_Silent_p.G74G|FXYD3_ENST00000604804.1_Silent_p.G103G|FXYD3_ENST00000604404.1_Silent_p.G74G|FXYD3_ENST00000603524.1_Silent_p.G103G|FXYD3_ENST00000603181.1_Silent_p.G74G|FXYD3_ENST00000604255.1_Silent_p.G131G|FXYD3_ENST00000535103.1_Silent_p.G131G|FXYD3_ENST00000605677.1_3'UTR	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	74						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCATCCAGGGGAGACTCCAC	0.562000													15	25					3.41278e-10	5.53218e-10	0.004990	1	0
SLC6A16	28968	broad.mit.edu	37	19	49796617	49796617	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49796617G>A	ENST00000454748.3	-	10	1842	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	SLC6A16_ENST00000335875.4_Silent_p.F547F			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	547						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCCGCACACGAACATGAGCA	0.498000													11	10					0	0	0.000673	0	0
EP400	57634	broad.mit.edu	37	12	132474601	132474601	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:132474601C>T	ENST00000333577.4	+	9	2719	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A	EP400_ENST00000389561.2_Silent_p.A834A|EP400_ENST00000332482.4_Silent_p.A797A|EP400_ENST00000389562.2_Silent_p.A833A|EP400_ENST00000330386.6_Silent_p.A834A			Q96L91	EP400_HUMAN	E1A binding protein p400	870	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCGGATAGCCGCCTCCACGG	0.562000													26	48					0	0	0.004656	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143839	46143839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:46143839C>T	ENST00000374366.3	-	6	715	c.250G>A	c.(250-252)Gat>Aat	p.D84N	ZFAND4_ENST00000344646.5_Missense_Mutation_p.D158N|ZFAND4_ENST00000374371.2_Missense_Mutation_p.D158N|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	158	Ubiquitin-like.						zinc ion binding										TCTCCCCTATCTACTGCAGGA	0.408000													36	48					0	0	0.002522	0	0
REG4	83998	broad.mit.edu	37	1	120345526	120345526	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:120345526G>A	ENST00000369401.4	-	3	595	c.330C>T	c.(328-330)ttC>ttT	p.F110F	REG4_ENST00000256585.5_Intron|REG4_ENST00000530654.1_Intron|REG4_ENST00000354219.1_Intron	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ttacagaattgaatgagtTGA	0.483000													152	237					0	0	0.003610	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	G	A	rs149076914		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:151935417G>A	ENST00000393902.3	-	3	1317	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_ENST00000370278.3_Silent_p.F250F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000													51	57					0	0	0.003610	0	0
PTPN13	5783	broad.mit.edu	37	4	87691040	87691040	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:87691040C>T	ENST00000436978.1	+	29	5103	c.4623C>T	c.(4621-4623)ctC>ctT	p.L1541L	PTPN13_ENST00000427191.2_Silent_p.L1517L|PTPN13_ENST00000411767.2_Silent_p.L1536L|PTPN13_ENST00000316707.6_Silent_p.L1345L|PTPN13_ENST00000511467.1_Silent_p.L1541L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1536	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTAAAAAGCTCTTTCCTGGAC	0.383000													38	20					0	0	0.006999	0	0
XIRP2	129446	broad.mit.edu	37	2	168102690	168102690	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168102690G>A	ENST00000409195.1	+	9	4877	c.4788G>A	c.(4786-4788)caG>caA	p.Q1596Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1374Q|XIRP2_ENST00000295237.9_Silent_p.Q1596Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1421					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAGATACAGAAAGAAGAAA	0.383000													11	17					0	0	0.000978	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55541558C>T	ENST00000361760.1	+	1	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000													22	71					0	0	0.002299	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168713	32168713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32168713C>T	ENST00000375023.3	-	23	4348	c.4210G>A	c.(4210-4212)Gac>Aac	p.D1404N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1404					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCCAGGGTCCCAGGGACAG	0.642000													58	302					0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28934722	28934722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28934722G>A	ENST00000257192.4	+	15	2775	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.D214N|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	855					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCACGTTCACGATAACCGACC	0.517000													66	64					0	0	0.003610	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950252	96950252	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:96950252G>A	ENST00000323853.5	-	31	4313	c.4236C>T	c.(4234-4236)acC>acT	p.T1412T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1412	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCTGTGCTGGTCTCGCCTG	0.557000													44	45					0	0	0.003214	0	0
BTG3	10950	broad.mit.edu	37	21	18966434	18966434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:18966434G>A	ENST00000339775.6	-	6	1021	c.868C>T	c.(868-870)Cct>Tct	p.P290S	BTG3_ENST00000348354.6_Missense_Mutation_p.P246S	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	246					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AACATGTGAGGATTAATCCAG	0.378000													11	24					0	0	0.000978	0	0
CNTN5	53942	broad.mit.edu	37	11	100061878	100061878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:100061878G>A	ENST00000524871.1	+	14	1891	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G534E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G460E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G534E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G534E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	534	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G534V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAGACGGGAGTCTACGG	0.368000													13	28					0	0	0.002450	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435745	104435745	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:104435745G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TGACTTCATCGAAACCATTGG	0.413000													4	3					0	0	0.000248	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6263964	6263964	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:6263964A>G	ENST00000400104.3	-	5	401	c.201T>C	c.(199-201)ccT>ccC	p.P67P	L3MBTL4_ENST00000400105.2_Silent_p.P67P|L3MBTL4_ENST00000317931.7_Silent_p.P67P|L3MBTL4_ENST00000284898.6_Silent_p.P67P			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	67					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACAGCTCAACAGGTGCTGCGA	0.443000													53	12					0	0	0.003610	0	0
ZNF713	349075	broad.mit.edu	37	7	56006825	56006825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:56006825C>T	ENST00000429591.2	+	4	457	c.419C>T	c.(418-420)cCa>cTa	p.P140L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATTACCATCCAGAGTTTAAC	0.408000													9	53					0	0	0.000673	0	0
PSG4	5672	broad.mit.edu	37	19	43702150	43702150	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43702150G>A	ENST00000405312.3	-	3	945	c.709_splice	c.e3+1	p.L236_splice	PSG4_ENST00000244295.9_Splice_Site_p.L236_splice|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	236					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.522000													49	156					0	0	0.003610	0	0
GRM4	2914	broad.mit.edu	37	6	34003929	34003929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:34003929G>A	ENST00000374181.3	-	8	2127	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L	GRM4_ENST00000455714.2_Missense_Mutation_p.S513L|GRM4_ENST00000545715.1_Missense_Mutation_p.S345L|GRM4_ENST00000374177.3_Missense_Mutation_p.S537L|GRM4_ENST00000535756.1_Missense_Mutation_p.S520L|GRM4_ENST00000544773.1_Missense_Mutation_p.S484L|GRM4_ENST00000538487.1_Missense_Mutation_p.S653L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	653					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCGGCGCAGCGAGCAGGTGCC	0.612000													46	37					0	0	0.003610	0	0
LPPR1	54886	broad.mit.edu	37	9	104032177	104032177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:104032177G>A	ENST00000374874.3	+	3	518	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	LPPR1_ENST00000395056.2_Missense_Mutation_p.G27R	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		27						integral to membrane	catalytic activity										CATCATGGCTGGGACAGTGCT	0.522000													11	28					0	0	0.001368	0	0
MCCD1	401250	broad.mit.edu	37	6	31497668	31497668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31497668G>A	ENST00000376191.2	+	2	614	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	106						mitochondrion				skin(1)	1						GAAGCTGAAGGAACAGATGAG	0.617000													3	8					0	0	0.004672	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524125	24524125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:24524125G>A	ENST00000376862.3	+	2	1025	c.392G>A	c.(391-393)gGg>gAg	p.G131E		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TACCCGGATGGGAAGTTCATT	0.597000													60	117					0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290915	141290915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:141290915G>A	ENST00000247452.3	-	3	1206	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	287	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCTCCCGATACTCCAGG	0.502000										HNSCC(46;0.14)			22	31					0	0	0.001523	0	0
GABRA5	2558	broad.mit.edu	37	15	27193130	27193130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:27193130G>A	ENST00000335625.5	+	11	2027	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	GABRA5_ENST00000400081.3_Missense_Mutation_p.G380E|GABRA5_ENST00000355395.5_Missense_Mutation_p.G380E	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTACAACTGGGAAGATGTCT	0.438000													8	4					0	0	0.003080	0	0
FRY	10129	broad.mit.edu	37	13	32735336	32735336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32735336C>T	ENST00000380250.3	+	17	2336	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTATTCCTCGACTGCTTCC	0.368000													21	38					0	0	0.002299	0	0
POM121	9883	broad.mit.edu	37	7	72413666	72413666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72413666C>T	ENST00000395270.1	+	14	3380	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	POM121_ENST00000434423.2_Missense_Mutation_p.S1045L|POM121_ENST00000446813.1_Missense_Mutation_p.S780L|POM121_ENST00000257622.4_Missense_Mutation_p.S780L|POM121_ENST00000358357.3_Missense_Mutation_p.S780L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1045	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				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)				GCCACGGCTTCGGCCTTCGGC	0.647000													32	127					0	0	0.002836	0	0
PALD1	27143	broad.mit.edu	37	10	72291163	72291163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:72291163G>A	ENST00000263563.6	+	5	854	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCAGGGCCTTGGACCCGGGGT	0.617000													15	35					0	0	0.004990	0	0
GPI	2821	broad.mit.edu	37	19	34856261	34856261	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:34856261C>T	ENST00000415930.3	+	2	377	c.207C>T	c.(205-207)ttC>ttT	p.F69F	GPI_ENST00000356487.5_Silent_p.F30F|GPI_ENST00000586425.1_Silent_p.F30F	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	30					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)					GCCGCCTCTTCGATGCCAACA	0.716000													5	23					0	0	0.001168	0	0
COL22A1	169044	broad.mit.edu	37	8	139628273	139628273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139628273G>A	ENST00000303045.6	-	55	4341	c.3895C>T	c.(3895-3897)Cct>Tct	p.P1299S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1279S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1299	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGACCAGGAAGCCCCATG	0.572000										HNSCC(7;0.00092)			36	22					0	0	0.002222	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307214	39307214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:39307214G>A	ENST00000541347.1	-	2	1026	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	CX3CR1_ENST00000542107.1_Missense_Mutation_p.P263S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.P295S|CX3CR1_ENST00000399220.2_Missense_Mutation_p.P263S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	263					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCACAACTGGGAAAGAAGTCA	0.463000													66	43					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137343	40137343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:40137343G>A	ENST00000278198.2	-	2	2463	c.500C>T	c.(499-501)gCt>gTt	p.A167V	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A167V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A167V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A167V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	167					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCTGTTAAAAGCATAAGAAGG	0.428000													13	41					0	0	0.002450	0	0
LMNA	4000	broad.mit.edu	37	1	156106056	156106056	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156106056C>T	ENST00000368300.4	+	7	1421	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Silent_p.S403S|LMNA_ENST00000347559.2_Silent_p.S403S|LMNA_ENST00000473598.2_Silent_p.S304S|LMNA_ENST00000448611.2_Silent_p.S291S|LMNA_ENST00000368297.1_Silent_p.S322S|LMNA_ENST00000368299.3_Silent_p.S403S|LMNA_ENST00000392353.3_Silent_p.S322S|LMNA_ENST00000368301.2_Silent_p.S403S	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	403	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCCGTGCTTCCTCTCACTCAT	0.642000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				51	44					0	0	0.003610	0	0
EP300	2033	broad.mit.edu	37	22	41564798	41564798	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41564798G>T	ENST00000263253.7	+	25	5318	c.4099G>T	c.(4099-4101)Gat>Tat	p.D1367Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1367					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						TGAAGAAATTGATGGTGTTGA	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				34	120					2.20474e-14	3.58525e-14	0.003755	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368082	18368082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18368082G>A	ENST00000392413.3	-	4	4227	c.4012C>T	c.(4012-4014)Cat>Tat	p.H1338Y	KIAA1683_ENST00000600328.2_Missense_Mutation_p.H1151Y|KIAA1683_ENST00000600359.2_Missense_Mutation_p.H1105Y	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	141						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCCGGGTATGGTGGCCTCGC	0.612000													45	15					0	0	0.003610	0	0
ABCD4	5826	broad.mit.edu	37	14	74766262	74766262	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74766262G>A	ENST00000356924.4	-	3	417	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Silent_p.L92L|ABCD4_ENST00000298816.7_Silent_p.L5L	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	92	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GTGGAGTTCAGAACAATGAGC	0.512000													18	14					0	0	0.006122	0	0
ZNF709	163051	broad.mit.edu	37	19	12575350	12575350	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12575350G>A	ENST00000397732.3	-	4	1557	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.S462S	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCATTCGAAAGGAACTGGAAC	0.398000													36	85					0	0	0.004878	0	0
ZNF285	26974	broad.mit.edu	37	19	44891833	44891833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44891833G>A	ENST00000330997.4	-	4	638	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	ZNF285_ENST00000591679.1_Missense_Mutation_p.H199Y|ZNF285_ENST00000544719.2_Missense_Mutation_p.H192Y|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GACTCATGATGATCACATGAG	0.458000													24	73					0	0	0.003330	0	0
IL21	59067	broad.mit.edu	37	4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:123534028C>T	ENST00000264497.3	-	4	473	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	132					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313000													7	13					0	0	0.004482	0	0
FOXD4	2298	broad.mit.edu	37	9	117682	117682	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117682G>A	ENST00000382500.2	-	1	735	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTGCCAGGCGGGGAACTTGC	0.642000													35	77					0	0	0.003214	0	0
LPL	4023	broad.mit.edu	37	8	19811737	19811737	+	Silent	SNP	C	C	T	rs140457997		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:19811737C>T	ENST00000311322.8	+	5	1118	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	216					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCAGAGGGTCCCCTGGTCGAA	0.478000													29	13					0	0	0.001512	0	0
ZNF560	147741	broad.mit.edu	37	19	9578989	9578989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9578989C>T	ENST00000301480.4	-	10	847	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	212					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						TCATAGAGTTCCTCTCCATTT	0.363000													14	33					0	0	0.002450	0	0
RALGDS	5900	broad.mit.edu	37	9	135985089	135985089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:135985089G>A	ENST00000393160.3	-	4	696	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.L241F|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000372050.3_Missense_Mutation_p.L170F|RALGDS_ENST00000393157.3_Missense_Mutation_p.L169F	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	170	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GAGGCCGTGAGGGCGTCACAT	0.527000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								15	43					0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38913246	38913246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:38913246G>A	ENST00000359357.3	+	78	11614	c.11360G>A	c.(11359-11361)gGa>gAa	p.G3787E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G4004E|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3751E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCCAGGGGGAGCAGCTCTG	0.453000													23	74					0	0	0.003330	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													4	69					0	0	0.000602	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154950	4154950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4154950C>T	ENST00000078445.2	+	2	229	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28F|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28F	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	28					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGGATCTCCTGTTTGA	0.627000													25	85					0	0	0.005443	0	0
KLF6	1316	broad.mit.edu	37	10	3823999	3823999	+	Silent	SNP	G	G	A	rs1062673		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:3823999G>A	ENST00000497571.1	-	2	770	c.510C>T	c.(508-510)ccC>ccT	p.P170P	KLF6_ENST00000469435.1_Silent_p.P170P|KLF6_ENST00000542957.1_Silent_p.P170P|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	170					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TCCCTGGCGAGGGCAGCTCCC	0.647000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	7					0	0	0.002299	0	0
BRINP3	339479	broad.mit.edu	37	1	190068135	190068135	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:190068135G>A	ENST00000367462.3	-	8	1545	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	FAM5C_ENST00000534846.1_Silent_p.F336F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		438						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAGGGCAGGAACGCGGTGC	0.607000													10	39					0	0	0.006214	0	0
RGCC	28984	broad.mit.edu	37	13	42041041	42041041	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:42041041C>T	ENST00000379359.3	+	3	467	c.318C>T	c.(316-318)ctC>ctT	p.L106L	RGCC_ENST00000487837.1_3'UTR	NM_014059.2	NP_054778.2	Q9H4X1	RGC32_HUMAN	regulator of cell cycle	106	Ser/Thr-rich.				cell cycle|regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus											CAGCTCTTCTCTCTGCCACTG	0.413000													37	51					0	0	0.003610	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517587	75517587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:75517587C>T	ENST00000318622.4	+	5	1221	c.592C>T	c.(592-594)Cct>Tct	p.P198S	RHBDD2_ENST00000428119.1_Missense_Mutation_p.P198S|RHBDD2_ENST00000006777.6_Missense_Mutation_p.P339S|RHBDD2_ENST00000468304.1_3'UTR	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	339						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTGAACAGCCCTGGCACGGT	0.622000													128	66					0	0	0.003610	0	0
ESF1	51575	broad.mit.edu	37	20	13695710	13695710	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:13695710G>A	ENST00000202816.1	-	14	2474	c.2367C>T	c.(2365-2367)atC>atT	p.I789I		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	789	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTCCTCAAGGATTTTTTCCA	0.403000													31	92					0	0	0.001512	0	0
SARS	6301	broad.mit.edu	37	1	109774338	109774338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:109774338C>T	ENST00000369923.4	+	6	688	c.677C>T	c.(676-678)cCc>cTc	p.P226L	SARS_ENST00000234677.2_Missense_Mutation_p.P226L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	226					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	p.P226L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATTTATACCCCCTTTTTCATG	0.522000													180	327					0	0	0.003610	0	0
TMEM131	23505	broad.mit.edu	37	2	98392351	98392351	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:98392351G>A	ENST00000186436.5	-	32	4503	c.4275C>T	c.(4273-4275)acC>acT	p.T1425T		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1425	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTCTGTGGTGGTGGAGGAGC	0.517000													9	39					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488789	25488789	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25488789C>T	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TTATATTTTCCTGAAGAGAGG	0.512000													158	156					0	0	0.003610	0	0
OR5R1	219479	broad.mit.edu	37	11	56184763	56184763	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56184763T>G	ENST00000312253.1	-	1	945	c.946A>C	c.(946-948)Aca>Cca	p.T316P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTTAAAAATGTTAATATCTGT	0.299000													10	4					0	0	0.006214	0	0
ACE	1636	broad.mit.edu	37	17	61571734	61571734	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61571734C>T	ENST00000577647.1	+	11	1606	c.1559_splice	c.e11-1	p.L521_splice	ACE_ENST00000428043.1_Splice_Site_p.L1095_splice|ACE_ENST00000413513.3_Splice_Site_p.L521_splice|ACE_ENST00000290863.6_Splice_Site_p.L521_splice|ACE_ENST00000290866.4_Splice_Site_p.L1095_splice|ACE_ENST00000421982.2_Splice_Site_p.L341_splice|ACE_ENST00000490216.2_Splice_Site_p.L521_splice			P12821	ACE_HUMAN	angiotensin I converting enzyme	1095	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTCGACAGGCTGAAGTACCA	0.552000													9	20					0	0	0.000673	0	0
XKR4	114786	broad.mit.edu	37	8	56435966	56435966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:56435966G>A	ENST00000327381.5	+	3	1233	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	378						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGTTCTGCTGGCACTTCTTC	0.572000													50	55					0	0	0.003610	0	0
FAM83A	84985	broad.mit.edu	37	8	124204148	124204148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124204148G>A	ENST00000518448.1	+	3	2600	c.586G>A	c.(586-588)Gga>Aga	p.G196R	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Missense_Mutation_p.G196R|FAM83A_ENST00000318462.6_Missense_Mutation_p.G196R|FAM83A_ENST00000276699.6_Missense_Mutation_p.G196R|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	196										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCTGGACCAGGGAGGTGTGAA	0.517000													78	83					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55537382	55537382	+	Missense_Mutation	SNP	C	C	T	rs72182715		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55537382C>T	ENST00000220676.1	+	4	1088	c.940C>T	c.(940-942)Cct>Tct	p.P314S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	314					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCAATATATCCTTCTGAAGA	0.308000													13	37					0	0	0.001855	0	0
DACH2	117154	broad.mit.edu	37	X	86067880	86067880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:86067880C>T	ENST00000373131.1	+	7	1386	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	DACH2_ENST00000510272.1_Missense_Mutation_p.P202L|DACH2_ENST00000373125.4_Missense_Mutation_p.P421L|DACH2_ENST00000508860.1_Missense_Mutation_p.P254L|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTTCAAATTCCAATAATGAAG	0.443000													28	3					0	0	0.002445	0	0
FRMD6	122786	broad.mit.edu	37	14	52194676	52194676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:52194676C>T	ENST00000395718.2	+	14	2059	c.1774C>T	c.(1774-1776)Cca>Tca	p.P592S	FRMD6_ENST00000356218.4_Missense_Mutation_p.P592S|FRMD6_ENST00000553556.1_Missense_Mutation_p.P242S|FRMD6_ENST00000554167.1_Missense_Mutation_p.P523S|FRMD6_ENST00000344768.5_Missense_Mutation_p.P600S	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	600						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGATGCTTTTCCAGTCAAAAG	0.463000													11	16					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179532199	179532199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179532199G>A	ENST00000589042.1	-	161	35907	c.35683C>T	c.(35683-35685)Cct>Tct	p.P11895S	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10034	Glu-rich.|Pro-rich.						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)			CTCTTTTTAGGAATAGTCACA	0.313000													6	13					0	0	0.001984	0	0
UQCC1	55245	broad.mit.edu	37	20	33891791	33891791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:33891791G>A	ENST00000374385.5	-	10	1024	c.847C>T	c.(847-849)Cct>Tct	p.P283S	UQCC_ENST00000349714.5_Missense_Mutation_p.P256S|UQCC_ENST00000540457.1_Missense_Mutation_p.P128S|UQCC_ENST00000397556.3_Missense_Mutation_p.P184S|UQCC_ENST00000407996.2_Missense_Mutation_p.P146S|UQCC_ENST00000374377.5_Missense_Mutation_p.P171S|UQCC_ENST00000359226.2_Missense_Mutation_p.P203S|UQCC_ENST00000374384.2_Missense_Mutation_p.P257S|UQCC_ENST00000374380.2_Missense_Mutation_p.P215S	NM_018244.4	NP_060714.3	Q9NVA1	UQCC_HUMAN		283						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATGCTCTGAGGATTCTTCTCC	0.612000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	106					0	0	0.006999	0	0
PVRL4	81607	broad.mit.edu	37	1	161047418	161047418	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161047418C>T	ENST00000368012.3	-	3	857	c.555G>A	c.(553-555)acG>acA	p.T185T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	185	Ig-like C2-type 1.		T -> M (in EDSS1).		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTGACCTCCGTGTCCCAGG	0.637000													41	24					0	0	0.006999	0	0
DCC	1630	broad.mit.edu	37	18	50929217	50929217	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:50929217C>T	ENST00000442544.2	+	19	3505	c.2889C>T	c.(2887-2889)gtC>gtT	p.V963V	DCC_ENST00000412726.1_Silent_p.V791V|DCC_ENST00000581580.1_Silent_p.V598V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	963	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCGTGCCGTCATTGTGAGTT	0.512000													51	130					0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139855	55139855	+	Missense_Mutation	SNP	C	C	T	rs142980928		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:55139855C>T	ENST00000257290.5	+	10	1847	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	506	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGCTAAGAATCTCCTTGGAGC	0.592000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			21	33					0	0	0.003330	0	0
CTNNA1	1495	broad.mit.edu	37	5	138253548	138253548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:138253548G>A	ENST00000302763.7	+	11	1597	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D400N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D503N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D133N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	503					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGATGCTGTCGATGACATTAC	0.408000													77	265					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179611554	179611554	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179611554T>C	ENST00000360870.5	-	46	15795	c.15573A>G	c.(15571-15573)aaA>aaG	p.K5191K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8710	Ig-like 32.						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)			ATACCTTCCTTTTGGTCAGAG	0.388000													15	37					0	0	0.004007	0	0
CACNA1A	773	broad.mit.edu	37	19	13325129	13325129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:13325129C>T	ENST00000360228.5	-	40	5857	c.5858G>A	c.(5857-5859)gGg>gAg	p.G1953E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1954E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1954					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAGATCTTCCCCACGGTGAG	0.632000													9	11					0	0	0.000673	0	0
TEX14	56155	broad.mit.edu	37	17	56692659	56692659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56692659G>A	ENST00000389934.3	-	8	932	c.815C>T	c.(814-816)cCc>cTc	p.P272L	TEX14_ENST00000240361.8_Missense_Mutation_p.P278L|TEX14_ENST00000349033.5_Missense_Mutation_p.P272L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	278	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGTGGGTGGGGAGATTCAG	0.557000													19	74					0	0	0.001523	0	0
MEGF10	84466	broad.mit.edu	37	5	126792879	126792879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:126792879C>T	ENST00000274473.6	+	26	3559	c.3292C>T	c.(3292-3294)Cca>Tca	p.P1098S	MEGF10_ENST00000503335.2_Missense_Mutation_p.P1098S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1098	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCCCAGGATCCATATGACCT	0.463000													54	81					0	0	0.003610	0	0
FNIP2	57600	broad.mit.edu	37	4	159772596	159772596	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:159772596C>A	ENST00000264433.6	+	8	926	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.P307Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	284					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGCATCATCCCAAGAAGGTGA	0.493000													6	127					0.00116845	0.00187356	0.001168	1	0
PKP2	5318	broad.mit.edu	37	12	33031940	33031940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:33031940G>A	ENST00000340811.4	-	2	358	c.250C>T	c.(250-252)Cct>Tct	p.P84S	PKP2_ENST00000070846.6_Missense_Mutation_p.P84S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	84					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACATACTCAGGAACACTGCTG	0.368000													19	55					0	0	0.002299	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929240	45929240	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45929240G>A	ENST00000323084.4	-	10	1661	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	TSPEAR_ENST00000397916.1_Silent_p.F464F|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	532					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCGATCTGGAAGACCTCCC	0.582000													7	23					0	0	0.004482	0	0
POU3F4	5456	broad.mit.edu	37	X	82764188	82764188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:82764188G>A	ENST00000373200.2	+	1	920	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	286					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GACCTCCATCGAGGTGAGTGT	0.607000													20	3					0	0	0.001523	0	0
CTSF	8722	broad.mit.edu	37	11	66335051	66335051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66335051G>A	ENST00000310325.5	-	3	504	c.395C>T	c.(394-396)cCa>cTa	p.P132L	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	132					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGCACCTGGAACCTTGGT	0.557000													30	76					0	0	0.002096	0	0
PVRL1	5818	broad.mit.edu	37	11	119545890	119545890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:119545890G>A	ENST00000264025.3	-	5	1512	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PVRL1_ENST00000341398.2_Nonsense_Mutation_p.Q328*|PVRL1_ENST00000340882.2_Nonsense_Mutation_p.Q328*	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	328	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		ACCTCCACCTGGCCTGAGCGT	0.592000													7	4					0	0	0.001984	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630379	51630379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51630379C>T	ENST00000440804.3	+	4	908	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.P281S	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	281	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGACAGCAATCCCCCTGCCAG	0.607000													48	40					0	0	0.003610	0	0
RNF139	11236	broad.mit.edu	37	8	125498514	125498514	+	Silent	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:125498514T>G	ENST00000303545.3	+	2	996	c.624T>G	c.(622-624)gtT>gtG	p.V208V		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	208					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACGATATGTTTATCTTTTGG	0.378000													70	64					0	0	0.003610	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554709	22554709	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22554709G>A	ENST00000390451.2	+	0	26																											GGCTGTCATTGAGCTCTGGTG	0.473000													5	25					0	0	0.001168	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554731	22554731	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22554731G>A	ENST00000390451.2	+	0	48																											CAGGAGGAATGGACAAGATCT	0.443000													22	17					0	0	0.002780	0	0
GTSE1	51512	broad.mit.edu	37	22	46708096	46708096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46708096C>T	ENST00000454366.1	+	5	1033	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	255			A -> T (in dbSNP:rs35503220).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GAGAAGGAATCCCACCGGGAT	0.537000													47	42					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881214	228881214	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228881214G>A	ENST00000392056.3	-	7	4402	c.4356C>T	c.(4354-4356)ctC>ctT	p.L1452L	SPHKAP_ENST00000344657.5_Silent_p.L1452L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1452						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTCCTCTAGGAGGCTGCTTT	0.498000													23	33					0	0	0.002780	0	0
UNC5A	90249	broad.mit.edu	37	5	176306753	176306753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176306753C>T	ENST00000329542.4	+	15	2669	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	UNC5A_ENST00000261961.3_Missense_Mutation_p.P759S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	799	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGCCCAGCCCCACAGCCAT	0.697000													11	51					0	0	0.000673	0	0
ZNF607	84775	broad.mit.edu	37	19	38189499	38189499	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:38189499C>T	ENST00000355202.4	-	5	2128	c.1533G>A	c.(1531-1533)ggG>ggA	p.G511G	ZNF607_ENST00000395835.3_Silent_p.G510G|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAAAGGCCTTCCCACATTCCT	0.403000													21	57					0	0	0.001882	0	0
GLOD4	51031	broad.mit.edu	37	17	663430	663430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:663430G>A	ENST00000301329.6	-	9	965	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	GLOD4_ENST00000301328.5_Missense_Mutation_p.P309S|GLOD4_ENST00000536578.1_Missense_Mutation_p.P285S	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	309						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAGCTTTGGGTTTATTGTGT	0.443000													9	48					0	0	0.000978	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420282	55420282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55420282G>A	ENST00000242994.3	+	2	437	c.59G>A	c.(58-60)tGg>tAg	p.W20*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	20					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ACACCATCCTGGATGGATAAA	0.443000													9	127					0	0	0.000978	0	0
OR2A25	392138	broad.mit.edu	37	7	143771670	143771670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143771670G>A	ENST00000408898.2	+	1	396	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATGTCCTATGATCGGTACGT	0.483000													130	23					0	0	0.003610	0	0
FKRP	79147	broad.mit.edu	37	19	47258805	47258805	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47258805A>G	ENST00000318584.5	+	4	395	c.98A>G	c.(97-99)aAt>aGt	p.N33S	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.N33S	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	33						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CAGCCTAGGAATTCCCGGGCC	0.692000													5	13					0	0	0.000602	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960338	35960338	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:35960338G>A	ENST00000490799.1	-	6	1094	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Silent_p.F247F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	247					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCCAAAGATGAAAGTCAGCT	0.463000													80	12					0	0	0.003610	0	0
PENK	5179	broad.mit.edu	37	8	57358378	57358378	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:57358378G>A	ENST00000314922.3	-	1	211	c.135C>T	c.(133-135)ttC>ttT	p.F45F	PENK_ENST00000523051.1_Silent_p.F45F|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Silent_p.F45F|PENK_ENST00000518770.1_Silent_p.F45F	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	45					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACTCACCAGGAAGTTGATGT	0.682000													22	41					0	0	0.006320	0	0
PLCL2	23228	broad.mit.edu	37	3	17056316	17056316	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:17056316C>T	ENST00000418129.2	+	3	3018	c.2553C>T	c.(2551-2553)gtC>gtT	p.V851V	PLCL2_ENST00000396755.2_Silent_p.V851V|PLCL2_ENST00000432376.1_Silent_p.V851V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	977					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCTAGTGGTCCTAAATCTCA	0.537000													47	105					0	0	0.003610	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177183	67177183	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67177183G>A	ENST00000312390.5	+	10	1328	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Silent_p.R433R	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	433	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCCCCCAGGCCCCAACGAG	0.682000													8	31					0	0	0.000673	0	0
NDNF	79625	broad.mit.edu	37	4	121958055	121958055	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:121958055C>T	ENST00000379692.4	-	4	1597	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	357										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTGCTCCCTTCCTTTTAACAA	0.433000													26	42					0	0	0.005443	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37677213G>A	ENST00000532828.2	-	5	1477	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000													15	61					0	0	0.004007	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:68857449G>A	ENST00000361320.4	+	3	2219	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	547						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTTTGAAACGAATGCACAGG	0.463000													28	57					0	0	0.007291	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839186	93839186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93839186C>T	ENST00000315765.9	+	17	2943	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	979	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGGAATCTCCATGGCCTCAT	0.338000													20	18					0	0	0.001523	0	0
ZNF121	7675	broad.mit.edu	37	19	9677278	9677278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9677278G>A	ENST00000586602.1	-	6	927	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	ZNF121_ENST00000320451.6_Missense_Mutation_p.P171S			P58317	ZN121_HUMAN	zinc finger protein 121	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CATTCATAGGGTTTCTCCCCA	0.368000													35	19					0	0	0.004289	0	0
MT1JP	4498	broad.mit.edu	37	16	56670389	56670389	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:56670389G>A	ENST00000564564.1	+	0	715																											CAAGTGCAAAGAGTGCAAATG	0.577000													11	9					0	0	0.000978	0	0
FBN2	2201	broad.mit.edu	37	5	127681179	127681179	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:127681179G>A	ENST00000508053.1	-	30	4061	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	FBN2_ENST00000262464.4_Silent_p.V1029V|FBN2_ENST00000508989.1_Silent_p.V996V			P35556	FBN2_HUMAN	fibrillin 2	1029	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCCGCCCCGACAGCACAGC	0.592000													24	86					0	0	0.003330	0	0
CCDC141	285025	broad.mit.edu	37	2	179720257	179720257	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179720257C>T	ENST00000420890.2	-	19	2994	c.2877G>A	c.(2875-2877)agG>agA	p.R959R	CCDC141_ENST00000295723.5_Silent_p.R384R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	384							protein binding	p.R384R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCCATTTTCCTTTTCAAAG	0.274000													11	21					0	0	0.000673	0	0
ABCB5	340273	broad.mit.edu	37	7	20778753	20778753	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:20778753G>A	ENST00000404938.2	+	24	3667	c.3015G>A	c.(3013-3015)ggG>ggA	p.G1005G	ABCB5_ENST00000258738.6_Silent_p.G560G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	560					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTCAAGAAGGGAAAAAGCCAG	0.478000													5	12					0	0	0.000602	0	0
E2F8	79733	broad.mit.edu	37	11	19251064	19251064	+	Silent	SNP	G	G	A	rs139665641	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:19251064G>A	ENST00000527884.1	-	10	2062	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L610L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	610					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACTGTCCTCGAGCATGCTTG	0.507000													86	23					0	0	0.003610	0	0
MORC3	23515	broad.mit.edu	37	21	37744705	37744705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:37744705C>T	ENST00000400485.1	+	16	2618	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	848					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCACAAATCCGTTCACAGTG	0.323000													16	67					0	0	0.006122	0	0
MACF1	23499	broad.mit.edu	37	1	39797699	39797699	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:39797699C>T	ENST00000564288.1	+	37	6216	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.I1818I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.I253I|MACF1_ENST00000567887.1_Silent_p.I1850I|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1818					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGGCATCATAGACACTG	0.478000													14	15					0	0	0.003163	0	0
SSPO	23145	broad.mit.edu	37	7	149510822	149510822	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149510822C>T	ENST00000378016.2	+	0	10107							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCCTGGACCTGCTGACCG	0.697000													37	4					0	0	0.004289	0	0
PXDNL	137902	broad.mit.edu	37	8	52321655	52321655	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52321655G>A	ENST00000356297.4	-	17	2629	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	PXDNL_ENST00000543296.1_Silent_p.F843F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	843					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTCATGGGGAAACAAGGAG	0.697000													13	15					0	0	0.001855	0	0
IMMT	10989	broad.mit.edu	37	2	86400788	86400788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:86400788G>A	ENST00000410111.3	-	4	793	c.406C>T	c.(406-408)Cca>Tca	p.P136S	IMMT_ENST00000254636.5_Missense_Mutation_p.P49S|IMMT_ENST00000409051.2_Missense_Mutation_p.P136S|IMMT_ENST00000442664.2_Missense_Mutation_p.P136S|IMMT_ENST00000449247.2_Missense_Mutation_p.P136S	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	136						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTGAAGCTGGAGTATCTCCC	0.348000													13	10					0	0	0.001368	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141297807	141297807	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:141297807G>A	ENST00000389328.4	-	13	2189	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	TRAPPC9_ENST00000438773.2_Silent_p.F627F|TRAPPC9_ENST00000389327.3_Silent_p.F618F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	627					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGAGAGACTCGAACTCCACTC	0.577000													13	36					0	0	0.001368	0	0
ZNF761	388561	broad.mit.edu	37	19	53959970	53959970	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53959970C>T	ENST00000454407.1	+	0	2662							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)		TACATGCCATCGTAGACTTCA	0.403000													58	49					0	0	0.003610	0	0
PDGFB	5155	broad.mit.edu	37	22	39621782	39621782	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:39621782C>T	ENST00000331163.6	-	6	1459	c.672G>A	c.(670-672)cgG>cgA	p.R224R	PDGFB_ENST00000381551.4_Silent_p.R209R	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	224					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.R224R(2)|p.R209R(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GCTTGAATTTCCGGTGCTTGC	0.622000			T	COL1A1	DFSP								11	27					0	0	0.000978	0	0
VPS45	11311	broad.mit.edu	37	1	150054811	150054811	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150054811G>A	ENST00000369130.3	+	10	1494	c.948G>A	c.(946-948)gaG>gaA	p.E316E	VPS45_ENST00000369128.5_Silent_p.E211E|VPS45_ENST00000535106.1_Silent_p.E247E	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	316					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGTTTGTTGAGAATTATCCAC	0.463000													29	120					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179595812	179595812	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179595812G>A	ENST00000589042.1	-	60	17804	c.17580C>T	c.(17578-17580)ggC>ggT	p.G5860G	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5543G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G4616G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5543	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4616G(1)		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)			TCAGTTCTTGGCCATCTTTAA	0.393000													26	32					0	0	0.003330	0	0
GCKR	2646	broad.mit.edu	37	2	27741759	27741759	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27741759G>A	ENST00000264717.2	+	17	1590	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	GCKR_ENST00000424318.2_Silent_p.R319R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	509					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGACCTTCGGATTAGCAACT	0.542000													32	68					0	0	0.003755	0	0
SPPL2B	56928	broad.mit.edu	37	19	2334633	2334633	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2334633C>T	ENST00000452401.2	+	0	179				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGTGGTCTCCCAGGCCG	0.652000													12	8					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179621414	179621414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179621414C>T	ENST00000589042.1	-	46	11013	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3283							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)			GACTTAATTTCCTTTTGAGAT	0.408000													18	31					0	0	0.006122	0	0
EIF3B	8662	broad.mit.edu	37	7	2402736	2402736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:2402736C>T	ENST00000360876.4	+	4	900	c.844C>T	c.(844-846)Cca>Tca	p.P282S	EIF3B_ENST00000397011.2_Missense_Mutation_p.P282S	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	282	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGGATATTCCAGAGAAACA	0.522000													93	231					0	0	0.003610	0	0
BRD1	23774	broad.mit.edu	37	22	50171394	50171394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:50171394G>A	ENST00000457780.2	-	9	2858	c.2843C>T	c.(2842-2844)cCa>cTa	p.P948L	BRD1_ENST00000404034.1_Silent_p.A844A|BRD1_ENST00000404760.1_Silent_p.A975A|BRD1_ENST00000542442.1_Silent_p.A532A|BRD1_ENST00000342989.5_Silent_p.A570A|BRD1_ENST00000216267.8_Silent_p.A844A			O95696	BRD1_HUMAN	bromodomain containing 1	0	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTCGGGGTGTGGCCTTCCTCC	0.711000													4	23					0	0	0.000248	0	0
GAREM	64762	broad.mit.edu	37	18	29867085	29867085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:29867085G>A	ENST00000399218.4	-	4	1530	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	GAREM_ENST00000269209.6_Missense_Mutation_p.S492F	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GGGAAGAGGAGAAGTCGCACA	0.537000													32	80					0	0	0.002096	0	0
HLX	3142	broad.mit.edu	37	1	221054565	221054565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:221054565C>T	ENST00000366903.6	+	2	2123	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	208					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGGTGGGCGGCCCGCCGGGGT	0.582000													58	52					0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803026	185803026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185803026C>T	ENST00000302277.6	+	4	3497	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	968						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCCTAAATCCTATCTTTGC	0.383000													16	23					0	0	0.001216	0	0
C8orf47	203111	broad.mit.edu	37	8	99101378	99101378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:99101378G>A	ENST00000318528.3	+	2	492	c.133G>A	c.(133-135)Gga>Aga	p.G45R	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	45										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACATGCACTGGGAAGAGAATC	0.418000													24	25					0	0	0.003954	0	0
TTC37	9652	broad.mit.edu	37	5	94852694	94852694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:94852694G>A	ENST00000358746.2	-	22	2660	c.2362C>T	c.(2362-2364)Cgc>Tgc	p.R788C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	788							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGCTTGGCGATAATAATTA	0.333000													15	17					0	0	0.002450	0	0
RSPO3	84870	broad.mit.edu	37	6	127476437	127476437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:127476437G>A	ENST00000356698.4	+	4	1077	c.488G>A	c.(487-489)gGa>gAa	p.G163E	RSPO3_ENST00000368317.3_Missense_Mutation_p.G163E	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	163	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		ACGAAGAAGGGAAAAACATGT	0.463000													28	77					0	0	0.006320	0	0
CSMD2	114784	broad.mit.edu	37	1	34066529	34066529	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34066529G>A	ENST00000373381.4	-	44	6968	c.6792C>T	c.(6790-6792)aaC>aaT	p.N2264N	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373388.2_Silent_p.N363N|CSMD2_ENST00000373380.1_Silent_p.N1137N|CSMD2_ENST00000373377.1_Silent_p.N363N	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2266	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGGACCTGGTTGGATGAAC	0.587000													27	56					0	0	0.007291	0	0
KCNE1	3753	broad.mit.edu	37	21	35821771	35821771	+	Silent	SNP	G	G	A	rs17173508		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:35821771G>A	ENST00000337385.3	-	3	537	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KCNE1_ENST00000399286.2_Silent_p.F54F|KCNE1_ENST00000399284.1_Silent_p.F54F|KCNE1_ENST00000399289.3_Silent_p.F54F|KCNE1_ENST00000416357.2_Silent_p.F54F|KCNE1_ENST00000432085.1_Silent_p.F54F	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	54					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGAAGAAGCCGAAGAATCCCA	0.607000													107	187					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61855009	61855009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:61855009G>A	ENST00000577390.1	-	6	1798	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CDH8_ENST00000577730.1_Missense_Mutation_p.H282Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H282Y|CDH8_ENST00000584337.1_Missense_Mutation_p.H282Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	282	Cadherin 3.				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)		ACTGAGAAGTGATACAGGCCT	0.403000													15	16					0	0	0.004007	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235747	6235747	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:6235747G>A	ENST00000265978.4	-	11	2851	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.F817F	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	817					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCTGGGAAGTCCTCCT	0.557000													65	15					0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80327831	80327831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:80327831C>T	ENST00000358842.3	-	1	1541	c.1524G>A	c.(1522-1524)atG>atA	p.M508I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	508					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATTGACTTCATTACGGCTT	0.448000													24	45					0	0	0.007291	0	0
MARCH10	162333	broad.mit.edu	37	17	60814508	60814508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:60814508C>T	ENST00000544856.2	-	7	1096	c.718G>A	c.(718-720)Gga>Aga	p.G240R	MARCH10_ENST00000583600.1_Missense_Mutation_p.G279R|MARCH10_ENST00000456609.2_Missense_Mutation_p.G241R|MARCH10_ENST00000311269.5_Missense_Mutation_p.G241R|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTATTTTTTCCTTGGAAGGCC	0.532000													56	72					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179617902	179617902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179617902C>T	ENST00000589042.1	-	47	11484	c.11260G>A	c.(11260-11262)Gaa>Aaa	p.E3754K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3391K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3583K|TTN_ENST00000360870.5_Missense_Mutation_p.E3437K|TTN_ENST00000591111.1_Missense_Mutation_p.E3437K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3516K|TTN_ENST00000342992.6_Missense_Mutation_p.E3437K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3437							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)			AAAATTGATTCAGGAGCTAAA	0.264000													16	16					0	0	0.004990	0	0
NR6A1	2649	broad.mit.edu	37	9	127300562	127300562	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127300562C>T	ENST00000487099.2	-	6	790	c.633G>A	c.(631-633)agG>agA	p.R211R	NR6A1_ENST00000373584.3_Silent_p.R207R|NR6A1_ENST00000344523.4_Silent_p.R210R|NR6A1_ENST00000416460.2_Silent_p.R206R	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	211	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGTACTGTTCCCTGAAGGCCA	0.468000													55	40					0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:24601303G>A	ENST00000378214.3	-	2	553	c.29C>T	c.(28-30)tCa>tTa	p.S10L	KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S10L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S10L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532000													114	103					0	0	0.003610	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225202	79225202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79225202C>T	ENST00000288439.5	-	14	2501	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCAGGGCTCCCGAGGATGAC	0.682000													18	20					0	0	0.004990	0	0
TENM1	10178	broad.mit.edu	37	X	123517540	123517540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:123517540G>A	ENST00000422452.2	-	30	7304	c.7241C>T	c.(7240-7242)tCc>tTc	p.S2414F	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S2407F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATTTTCAAAGGAGTAGAGGTT	0.373000													25	35					0	0	0.003954	0	0
POFUT1	23509	broad.mit.edu	37	20	30804422	30804422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:30804422C>T	ENST00000375749.3	+	4	502	c.440C>T	c.(439-441)cCc>cTc	p.P147L	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.P147L|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	147					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGGAAACCCCTTTGGCCCA	0.522000													21	98					0	0	0.004656	0	0
KIF9	64147	broad.mit.edu	37	3	47305837	47305837	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:47305837C>A	ENST00000335044.2	-	9	1277	c.920G>T	c.(919-921)gGa>gTa	p.G307V	KIF9_ENST00000452770.2_Missense_Mutation_p.G307V|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.G307V|KIF9_ENST00000352910.4_Missense_Mutation_p.G214V|KIF9_ENST00000265529.3_Missense_Mutation_p.G307V	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	307					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATTGCAGTTTCCCCCTGCGGA	0.448000													22	63					3.01185e-09	4.87633e-09	0.003954	1	0
TRIM69	140691	broad.mit.edu	37	15	45050926	45050926	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45050926G>A	ENST00000558173.1	+	2	4820	c.75G>A	c.(73-75)ggG>ggA	p.G25G	TRIM69_ENST00000338264.4_Silent_p.G70G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Silent_p.G25G|TRIM69_ENST00000329464.4_Silent_p.G229G|TRIM69_ENST00000559390.1_Silent_p.G229G|TRIM69_ENST00000560442.1_Silent_p.G25G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	229	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGAAGAGGGGAAAGCCTTGA	0.473000													14	29					0	0	0.004990	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323108	61323108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61323108C>T	ENST00000283752.5	-	8	1099	c.956G>A	c.(955-957)gGg>gAg	p.G319E	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G267E	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	319					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCGCGGCTCCCGGTCATGCC	0.547000													22	78					0	0	0.002299	0	0
ZNF345	25850	broad.mit.edu	37	19	37367907	37367907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37367907G>A	ENST00000529555.1	+	2	963	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E59K|ZNF345_ENST00000420450.1_Missense_Mutation_p.E59K|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	59					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGATGAGAAACTCCT	0.393000													19	46					0	0	0.002780	0	0
ITGAM	3684	broad.mit.edu	37	16	31308887	31308887	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31308887G>T	ENST00000544665.3	+	13	1480	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V	ITGAM_ENST00000287497.8_Missense_Mutation_p.G470V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	470					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACAGCAACGGCAGCACCGAC	0.637000													47	110					3.68337e-26	6.00881e-26	0.003610	1	0
DCAF6	55827	broad.mit.edu	37	1	168044630	168044630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:168044630C>T	ENST00000367840.3	+	22	2907	c.2813C>T	c.(2812-2814)tCa>tTa	p.S938L	DCAF6_ENST00000312263.6_Missense_Mutation_p.S847L|DCAF6_ENST00000432587.2_Missense_Mutation_p.S907L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S867L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	847					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GGTGACAGATCAGAAGGCTCT	0.318000													10	9					0	0	0.001855	0	0
LGALS12	85329	broad.mit.edu	37	11	63273900	63273900	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63273900G>A	ENST00000255684.5	+	1	345	c.36G>A	c.(34-36)acG>acA	p.T12T	LGALS12_ENST00000394618.3_Silent_p.T12T|LGALS12_ENST00000340246.5_Silent_p.T12T	NM_001142536.1	NP_001136008.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	12					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTCCTGGAACGAGGATCTACA	0.572000													20	47					0	0	0.001882	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150535922	150535922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150535922C>T	ENST00000361131.4	+	2	466	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	117					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGATGATCTTCTTGATGCAGA	0.413000													23	38					0	0	0.006320	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560105	10560105	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:10560105C>T	ENST00000381765.3	+	4	748	c.222C>T	c.(220-222)acC>acT	p.T74T	HPCAL1_ENST00000307845.3_Silent_p.T74T	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	74	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CCTTCGACACCAACGGCGACG	0.602000													16	57					0	0	0.006122	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:161116303C>T	ENST00000523217.1	+	5	702	c.460C>T	c.(460-462)Cct>Tct	p.P154S	GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)			16	77					0	0	0.001216	0	0
RBM47	54502	broad.mit.edu	37	4	40440485	40440485	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:40440485G>A	ENST00000319592.4	-	4	1135	c.426C>T	c.(424-426)ctC>ctT	p.L142L	RBM47_ENST00000295971.7_Silent_p.L142L|RBM47_ENST00000381795.6_Silent_p.L142L|RBM47_ENST00000514014.1_Silent_p.L104L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.L142L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	142	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACACGCCGAGCAGGCGGC	0.627000													14	24					0	0	0.003163	0	0
ANK3	288	broad.mit.edu	37	10	61967832	61967832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61967832G>A	ENST00000280772.1	-	10	1347	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	ANK3_ENST00000503366.1_Missense_Mutation_p.L369F|ANK3_ENST00000373827.2_Missense_Mutation_p.L380F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	386					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						TTATCCAAGAGAACCTTGGCA	0.527000													24	41					0	0	0.002780	0	0
MYO16	23026	broad.mit.edu	37	13	109707928	109707928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:109707928C>T	ENST00000356711.2	+	27	3380	c.3254C>T	c.(3253-3255)tCg>tTg	p.S1085L	MYO16_ENST00000457511.2_Missense_Mutation_p.S597L|MYO16_ENST00000357550.2_Missense_Mutation_p.S1085L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1085	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTTTCCTTCTCGGATTTCCTG	0.433000													28	21					0	0	0.002096	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432633	104432633	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:104432633G>A	ENST00000361820.3	-	3	2661	c.2061C>T	c.(2059-2061)atC>atT	p.I687I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	687					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGACGGCAGTGATGTGCAGAG	0.498000													35	45					0	0	0.006230	0	0
SYMPK	8189	broad.mit.edu	37	19	46319749	46319749	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46319749G>A	ENST00000245934.7	-	25	3589	c.3345C>T	c.(3343-3345)ccC>ccT	p.P1115P	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1115					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTCCTCCAAGGGCCCCGCAG	0.657000													9	10					0	0	0.000978	0	0
NWD1	284434	broad.mit.edu	37	19	16918402	16918402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16918402G>A	ENST00000524140.2	+	18	4160	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	NWD1_ENST00000552788.1_Missense_Mutation_p.E1248K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1206K|NWD1_ENST00000523826.1_Missense_Mutation_p.E1042K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1248K|NWD1_ENST00000339803.6_Missense_Mutation_p.E1113K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCAGGCGAGGAACAAGATTC	0.502000													25	78					0	0	0.001512	0	0
SACS	26278	broad.mit.edu	37	13	23907771	23907771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:23907771G>A	ENST00000382298.3	-	10	10832	c.10244C>T	c.(10243-10245)tCc>tTc	p.S3415F	SACS_ENST00000402364.1_Missense_Mutation_p.S2665F|SACS_ENST00000382292.3_Missense_Mutation_p.S3415F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3415					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)		GCCACTGATGGATTTATAGCA	0.363000													27	50					0	0	0.003954	0	0
TNC	3371	broad.mit.edu	37	9	117838849	117838849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117838849C>T	ENST00000350763.4	-	8	3091	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	TNC_ENST00000423613.2_Missense_Mutation_p.D894N|TNC_ENST00000346706.3_Missense_Mutation_p.D894N|TNC_ENST00000535648.1_Missense_Mutation_p.D894N|TNC_ENST00000341037.4_Missense_Mutation_p.D894N|TNC_ENST00000542877.1_Missense_Mutation_p.D894N|TNC_ENST00000340094.3_Missense_Mutation_p.D894N|TNC_ENST00000537320.1_Missense_Mutation_p.D894N|TNC_ENST00000345230.3_Missense_Mutation_p.D894N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	894	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGGGAGCATCGAGGCCTGTT	0.453000													52	84					0	0	0.003610	0	0
TECPR2	9895	broad.mit.edu	37	14	102894633	102894633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102894633C>T	ENST00000359520.7	+	7	1224	c.998C>T	c.(997-999)tCg>tTg	p.S333L	TECPR2_ENST00000558678.1_Missense_Mutation_p.S333L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	333							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGTCTGTTTCGTGCACAGAA	0.323000													20	7					0	0	0.007413	0	0
HEXA	3073	broad.mit.edu	37	15	72637870	72637870	+	Silent	SNP	G	G	A	rs140091006		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72637870G>A	ENST00000268097.5	-	13	1946	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Silent_p.A481A|HEXA_ENST00000566304.1_Silent_p.A492A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_3'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	481					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACAGCCTTTCGGCAACAGCCC	0.547000													19	37					0	0	0.001523	0	0
GEMIN5	25929	broad.mit.edu	37	5	154307058	154307058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:154307058G>A	ENST00000285873.7	-	7	1042	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	323					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCACTGAAGAGGGTGTATTTC	0.373000													34	36					0	0	0.005524	0	0
HECW2	57520	broad.mit.edu	37	2	197183418	197183418	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197183418C>T	ENST00000260983.2	-	9	2378	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	HECW2_ENST00000409111.1_Silent_p.E376E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCCCCCAGCTCCTCCTGGT	0.647000													5	10					0	0	0.001984	0	0
MAGI1	9223	broad.mit.edu	37	3	65439006	65439006	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:65439006C>T	ENST00000330909.8	-	6	968	c.969G>A	c.(967-969)acG>acA	p.T323T	MAGI1_ENST00000402939.2_Silent_p.T323T|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.T323T|MAGI1_ENST00000497477.2_Silent_p.T323T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	323	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATGTTGTTTTCGTGTTATGGC	0.403000													29	67					0	0	0.002096	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913068	29913068	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29913068G>A	ENST00000483405.1	+	0	559				ASPHD1_ENST00000308748.5_Missense_Mutation_p.R259Q			Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1						peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CAAGCAGGCCGGTGCCAACCC	0.667000													7	20					0	0	0.001984	0	0
CELSR3	1951	broad.mit.edu	37	3	48696450	48696450	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48696450G>A	ENST00000544264.1	-	1	3898	c.3618C>T	c.(3616-3618)ctC>ctT	p.L1206L	CELSR3_ENST00000164024.4_Silent_p.L1206L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1206	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGAGTAGAAGAGGTGGTCGG	0.547000													8	26					0	0	0.004482	0	0
NETO1	81832	broad.mit.edu	37	18	70526248	70526248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70526248C>T	ENST00000327305.6	-	4	939	c.282G>A	c.(280-282)tgG>tgA	p.W94*	NETO1_ENST00000299430.2_Nonsense_Mutation_p.W93*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.W93*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.W94*|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	94	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATTTGCACTCCCAAGACGGTT	0.383000													15	44					0	0	0.002450	0	0
FAM135B	51059	broad.mit.edu	37	8	139263231	139263231	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139263231A>C	ENST00000395297.1	-	6	565	c.395T>G	c.(394-396)aTg>aGg	p.M132R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	132										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTGCTGACCATCGGTGCCCC	0.572000										HNSCC(54;0.14)			53	44					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42530992	42530992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:42530992C>T	ENST00000282030.5	+	4	1983	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	563						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTGCATATCCCATCACCCC	0.522000									Schinzel-Giedion syndrome				48	131					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13901467	13901467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13901467G>A	ENST00000265104.4	-	14	2050	c.1946C>T	c.(1945-1947)gCt>gTt	p.A649V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	649	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTAGCACAGCTGGGTGCTG	0.557000									Kartagener syndrome				35	18					0	0	0.005524	0	0
HEXA	3073	broad.mit.edu	37	15	72642920	72642920	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72642920G>A	ENST00000268097.5	-	7	1247	c.744C>T	c.(742-744)ctC>ctT	p.L248L	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Silent_p.L248L|HEXA_ENST00000566304.1_Silent_p.L259L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Silent_p.L75L|HEXA_ENST00000457859.2_Silent_p.L56L	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	248					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGATACCCCGGAGCCGTGCGT	0.542000													37	56					0	0	0.003755	0	0
COG2	22796	broad.mit.edu	37	1	230810853	230810853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:230810853C>T	ENST00000534989.1	+	9	1167	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Missense_Mutation_p.P221S|COG2_ENST00000366668.3_Missense_Mutation_p.P337S|COG2_ENST00000366669.4_Missense_Mutation_p.P337S			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	337					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCTGGGAATCCCGATGCATT	0.413000													29	79					0	0	0.007291	0	0
AHNAK	79026	broad.mit.edu	37	11	62288237	62288237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62288237G>A	ENST00000378024.4	-	5	13926	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4551					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423000													22	41					0	0	0.001523	0	0
CCDC108	255101	broad.mit.edu	37	2	219870935	219870935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219870935G>A	ENST00000341552.5	-	31	4813	c.4730C>T	c.(4729-4731)cCc>cTc	p.P1577L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1577L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1577L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1577						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCTTGATGGGAGGCAGTGT	0.612000													11	24					0	0	0.002450	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950937	45950937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45950937C>T	ENST00000323084.4	-	4	687	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G140S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	208	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATGAACAGGCCTTTGGCTCTC	0.577000													6	32					0	0	0.001984	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172138	40172138	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40172138C>T	ENST00000412609.1	+	0	127																											GGACACCGATCATCCCTTTCG	0.532000													5	31					0	0	0.000602	0	0
RGS22	26166	broad.mit.edu	37	8	101020656	101020656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:101020656G>A	ENST00000360863.6	-	15	2502	c.2308C>T	c.(2308-2310)Ctt>Ttt	p.L770F	RGS22_ENST00000523287.1_Missense_Mutation_p.L589F|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L758F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	770	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGCTCAAGAAGGAGGAGAAGG	0.378000													24	55					0	0	0.005443	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31774132G>A	ENST00000543095.2	-	32	5402	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1734S|HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1734S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1447S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1734							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACACTGCAGGAAGTTCGGAA	0.418000													14	52					0	0	0.003163	0	0
CALCRL	10203	broad.mit.edu	37	2	188247997	188247997	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:188247997C>T	ENST00000409998.1	-	6	868	c.87G>A	c.(85-87)gaG>gaA	p.E29E	CALCRL_ENST00000410068.1_Silent_p.E29E|CALCRL_ENST00000392370.3_Silent_p.E29E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	29						integral to plasma membrane		p.E29_D30>DN(1)|p.E29D(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GAATTGAGTCCTCAGGACTCT	0.338000													11	12					0	0	0.000673	0	0
LRP1B	53353	broad.mit.edu	37	2	141135780	141135780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141135780C>T	ENST00000389484.3	-	68	11578	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3536	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAAAATCTCCATCACACCA	0.403000										TSP Lung(27;0.18)			17	40					0	0	0.001216	0	0
INSR	3643	broad.mit.edu	37	19	7152894	7152894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7152894C>T	ENST00000341500.5	-	10	2113	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	INSR_ENST00000302850.5_Missense_Mutation_p.E692K	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	692	Fibronectin type-III 1.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGAATCTTCAGACTCGAAT	0.537000													93	275					0	0	0.003610	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													11	56					0	0	0.000673	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282867	105282867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:105282867G>A	ENST00000258538.3	-	4	951	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	275						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAGAAGTATGGAATGATCAAG	0.388000													41	13					0	0	0.006999	0	0
ITGAL	3683	broad.mit.edu	37	16	30522201	30522201	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:30522201G>A	ENST00000356798.6	+	23	2799		c.e23-1		ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTTCCTGCCAGGTTGCTCTGC	0.542000													31	22					0	0	0.004878	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487679	117487679	+	Missense_Mutation	SNP	C	C	T	rs137888350	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117487679C>T	ENST00000393203.2	+	3	944	c.797C>T	c.(796-798)gCc>gTc	p.A266V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	266	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAAGAAAAGGCCGTGGAAGTT	0.527000													6	19					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126240276	126240276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:126240276G>A	ENST00000394329.3	+	1	2723	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	904	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGTGGTGGAGAATTGGCA	0.463000													10	22					0	0	0.000978	0	0
ZNF230	7773	broad.mit.edu	37	19	44515476	44515476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44515476C>T	ENST00000429154.2	+	5	1513	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGGAAAGAGGCTTGTACACCG	0.458000													26	25					0	0	0.003954	0	0
ERC2	26059	broad.mit.edu	37	3	56330159	56330159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:56330159C>T	ENST00000288221.6	-	3	1217	c.962G>A	c.(961-963)aGc>aAc	p.S321N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	321						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCCTCCAGGCTTTTGGATGG	0.453000													65	182					0	0	0.003610	0	0
STEAP4	79689	broad.mit.edu	37	7	87913487	87913487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:87913487G>A	ENST00000380079.4	-	2	199	c.98C>T	c.(97-99)tCa>tTa	p.S33L	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S33L|STEAP4_ENST00000414498.1_Missense_Mutation_p.S33L|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	33					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAATCCCAGTGATCTTCCAAA	0.418000													108	9					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48604154	48604154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48604154G>A	ENST00000328333.8	-	111	8350	c.8243C>T	c.(8242-8244)cCc>cTc	p.P2748L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2716L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2748	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCTCTCCGGGGGGACCTCG	0.642000													30	71					0	0	0.007291	0	0
MED4	29079	broad.mit.edu	37	13	48669172	48669172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:48669172C>T	ENST00000258648.2	-	1	68	c.43G>A	c.(43-45)Gga>Aga	p.G15R	MED4_ENST00000378586.1_Intron	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	15					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AAACCGCCTCCCAGCCGCTCC	0.647000											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.000602	0	0
ZNF704	619279	broad.mit.edu	37	8	81733661	81733661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:81733661G>A	ENST00000327835.3	-	2	400	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	57						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTTTGCTCAAGGAGACAGATG	0.453000													56	182					0	0	0.003610	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978411	6978411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:6978411C>T	ENST00000254868.4	-	9	1241	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CLEC10A_ENST00000571664.1_Missense_Mutation_p.E281K|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Missense_Mutation_p.E278K	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	305	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGGCCAGCCTCGCAGACCCAG	0.647000													17	62					0	0	0.006122	0	0
FMN2	56776	broad.mit.edu	37	1	240371380	240371380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240371380C>T	ENST00000319653.9	+	5	3498	c.3268C>T	c.(3268-3270)Cct>Tct	p.P1090S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1090	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACCTCCCCCTCTACCCGG	0.731000													8	15					0	0	0.000978	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16254145G>A	ENST00000339732.5	+	6	1770	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													16	40					0	0	0.007413	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555703	145555703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145555703G>A	ENST00000355594.4	+	2	138	c.51G>A	c.(49-51)tgG>tgA	p.W17*	ANKRD35_ENST00000544626.1_Nonsense_Mutation_p.W17*	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	17										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAGAGATGGAACCGCCATG	0.567000													6	52					0	0	0.003080	0	0
SPATA31A1	647060	broad.mit.edu	37	9	39361075	39361075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:39361075C>T	ENST00000377647.3	+	4	3342	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		GCCAATGTTTCCCCCTATTCA	0.483000													91	176					0	0	0.003610	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21926060	21926060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21926060G>A	ENST00000542643.2	-	23	2083	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S568F|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S632F|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S599F|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S653F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	568					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACTGGACGAGGAGCGGGAGAA	0.682000													13	18					0	0	0.001855	0	0
COL4A6	1288	broad.mit.edu	37	X	107424153	107424153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107424153C>T	ENST00000394872.2	-	24	2231	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G666E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G666E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G666E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G667E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	667	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCTGGAAATCCTGATGGACC	0.488000									Alport syndrome with Diffuse Leiomyomatosis				21	2					0	0	0.003954	0	0
SCAND3	114821	broad.mit.edu	37	6	28542714	28542714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28542714C>T	ENST00000452236.2	-	3	2385	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	590					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGGCTTTTTTCAGCCACCTTA	0.363000													38	18					0	0	0.005524	0	0
CFHR3	10878	broad.mit.edu	37	1	196762501	196762501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196762501G>A	ENST00000367425.4	+	6	943	c.851G>A	c.(850-852)gGa>gAa	p.G284E	CFHR3_ENST00000391985.3_Missense_Mutation_p.G223E	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AAGTTAAAAGGAAGAAGTGAC	0.259000													15	57					0	0	0.004007	0	0
MUC3A	4584	broad.mit.edu	37	7	100552270	100552270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100552270G>A	ENST00000319509.7	+	1	1021	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCATGTGTTGAAATGGATCC	0.473000													60	461					0	0	0.003610	0	0
ZNF274	10782	broad.mit.edu	37	19	58723952	58723952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58723952C>T	ENST00000326804.4	+	9	1861	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.H436Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.H363Y	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	469					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGTAAAAATTCATCAGAAGAG	0.378000													86	43					0	0	0.003610	0	0
DAGLA	747	broad.mit.edu	37	11	61504750	61504750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61504750C>T	ENST00000257215.5	+	14	1584	c.1468C>T	c.(1468-1470)Ccg>Tcg	p.P490S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	490					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCACAGTATCCGACCCTCAA	0.652000													69	183					0	0	0.003610	0	0
CLCNKB	1188	broad.mit.edu	37	1	16372084	16372084	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16372084C>T	ENST00000375679.4	+	3	243	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCTCTTCCGCCTGGGCG	0.642000													10	32					0	0	0.000978	0	0
INCENP	3619	broad.mit.edu	37	11	61906201	61906201	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61906201C>A	ENST00000394818.3	+	6	1334	c.1132C>A	c.(1132-1134)Ccc>Acc	p.P378T	INCENP_ENST00000278849.4_Missense_Mutation_p.P378T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	378					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGAAGGAACCCCCCGAGGA	0.627000													10	28					2.17888e-05	3.5098e-05	0.006214	1	0
PTPRB	5787	broad.mit.edu	37	12	71016424	71016424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:71016424C>T	ENST00000334414.6	-	3	498	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	PTPRB_ENST00000551525.1_Missense_Mutation_p.G151S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G152S|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCCCAGGCCAGCTGAGGTA	0.403000													5	11					0	0	0.001168	0	0
TTC26	79989	broad.mit.edu	37	7	138819479	138819479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:138819479C>T	ENST00000464848.1	+	2	162	c.82C>T	c.(82-84)Cca>Tca	p.P28S	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.P28S|TTC26_ENST00000478836.2_Missense_Mutation_p.P28S|TTC26_ENST00000343187.4_Missense_Mutation_p.P28S|TTC26_ENST00000495038.1_Missense_Mutation_p.P28S|TTC26_ENST00000430935.1_Missense_Mutation_p.P28S			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	28							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TAGGAAGATTCCAAAACTAGA	0.423000													16	47					0	0	0.003163	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56443522G>A	ENST00000588751.1	-	1	180	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NLRP13_ENST00000342929.3_Silent_p.F52F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	52	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATACGCGGGAAGTGCCCCT	0.547000													75	37					0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135025051	135025051	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135025051T>C	ENST00000304613.3	+	22	4055	c.4034T>C	c.(4033-4035)cTa>cCa	p.L1345P	KNDC1_ENST00000368572.2_Missense_Mutation_p.L1347P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1345	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGGGAAGCTAGAGGACTTC	0.657000													10	61					0	0	0.002450	0	0
CCDC158	339965	broad.mit.edu	37	4	77292590	77292590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:77292590C>T	ENST00000388914.3	-	9	1281	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	377										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGAAGTTGATCATCTAAATTT	0.378000													5	14					0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869593	140869593	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140869593C>T	ENST00000252087.1	+	1	786	c.786C>T	c.(784-786)ctC>ctT	p.L262L	PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		262	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCTGCTCCGCCTCAATG	0.522000													96	89					0	0	0.003610	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887849	30887849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:30887849C>T	ENST00000392772.2	-	10	998	c.721G>A	c.(721-723)Gag>Aag	p.E241K	SEC14L4_ENST00000540456.1_Missense_Mutation_p.E280K|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E295K|SEC14L4_ENST00000255858.7_Missense_Mutation_p.E295K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	295	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AACAGGATCTCGTTCTCCACC	0.652000													17	1					0	0	0.007413	0	0
DRC1	92749	broad.mit.edu	37	2	26672863	26672863	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:26672863G>A	ENST00000288710.2	+	12	1583		c.e12-1			NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CTTCTCCCCAGGGGTTCCTCA	0.582000													10	12					0	0	0.001368	0	0
FUS	2521	broad.mit.edu	37	16	31201371	31201371	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31201371C>T	ENST00000254108.7	+	11	1182	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	FUS_ENST00000380244.3_Silent_p.F358F|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.F360F	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	359	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GTAAAGAATTCTCCGGAAATC	0.458000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								3	8					0	0	0.004672	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795916	21795916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:21795916G>A	ENST00000206660.6	+	17	2845	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D949N|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D606N|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D308N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D275N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D911N			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	949					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGATACCAAGGACAGTTCAAA	0.478000													20	22					0	0	0.001523	0	0
FLG	2312	broad.mit.edu	37	1	152282024	152282024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152282024C>T	ENST00000368799.1	-	3	5373	c.5338G>A	c.(5338-5340)Gga>Aga	p.G1780R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1780	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTGCGTCCATGGGCGGAC	0.602000									Ichthyosis				173	99					0	0	0.003610	0	0
YEATS2	55689	broad.mit.edu	37	3	183476713	183476713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:183476713C>T	ENST00000305135.5	+	13	1811	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	539					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCCCTGTTCCTAAAATTCAT	0.363000													25	52					0	0	0.003954	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632453	205632453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:205632453G>A	ENST00000367145.3	-	3	761	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	156					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGGCGACAGTGGTCCGGGTCC	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								5	44					0	0	0.001168	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004023	75004023	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:75004023G>A	ENST00000373359.2	-	1	1056	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	288	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTTCCAGGGCCTTATTAT	0.473000													17	33					0	0	0.004990	0	0
PUF60	22827	broad.mit.edu	37	8	144900409	144900409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144900409G>A	ENST00000526683.1	-	7	1112	c.557C>T	c.(556-558)gCc>gTc	p.A186V	PUF60_ENST00000349157.6_Missense_Mutation_p.A169V|PUF60_ENST00000453551.2_Missense_Mutation_p.A143V|PUF60_ENST00000313352.7_Missense_Mutation_p.A126V|PUF60_ENST00000456095.2_Missense_Mutation_p.A157V|PUF60_ENST00000527197.1_Missense_Mutation_p.A140V|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	186	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGCTCCAAGGCCAGCTGTGC	0.657000													4	5					0	0	0.000602	0	0
KRBA1	84626	broad.mit.edu	37	7	149425632	149425632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149425632C>T	ENST00000255992.10	+	12	1892	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	KRBA1_ENST00000319551.8_Missense_Mutation_p.S498F|KRBA1_ENST00000485033.2_Missense_Mutation_p.S498F|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	498										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGAAGCTCCCCACTGCAG	0.577000													29	247					0	0	0.004289	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026791	176026791	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176026791C>T	ENST00000303991.4	-	2	222	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	15						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGAATCCTTTTGAAGCA	0.627000													6	40					0	0	0.001984	0	0
TRPA1	8989	broad.mit.edu	37	8	72975757	72975757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:72975757G>A	ENST00000262209.4	-	5	809	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	201						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGGTGAATAGGGAAACATCC	0.348000													16	50					0	0	0.001216	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231754	142231754	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142231754G>A	ENST00000390364.3	-	0	230																											AGGTCTTGTCGATACCAGAAC	0.488000													65	176					0	0	0.003610	0	0
UBL4B	164153	broad.mit.edu	37	1	110655204	110655204	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110655204G>A	ENST00000334179.3	+	1	143	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	16	Ubiquitin-like.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCAGTCTGAAGGTGTCAGGGC	0.592000													21	38					0	0	0.001523	0	0
ZNF479	90827	broad.mit.edu	37	7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:57194352C>T	ENST00000331162.4	-	3	383	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398000													31	109					0	0	0.006230	0	0
MYH1	4619	broad.mit.edu	37	17	10416027	10416027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10416027C>T	ENST00000226207.5	-	11	1073	c.979G>A	c.(979-981)Gat>Aat	p.D327N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	327	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTGGTCATCAATGCTGGGC	0.418000													26	111					0	0	0.002096	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:137423581G>A	ENST00000506684.1	+	3	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_ENST00000398754.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	110					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000													29	128					0	0	0.007291	0	0
CPT1B	1375	broad.mit.edu	37	22	51011367	51011367	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:51011367G>T	ENST00000360719.2	-	11	1426	c.1289C>A	c.(1288-1290)cCc>cAc	p.P430H	CPT1B_ENST00000405237.3_Missense_Mutation_p.P430H|CPT1B_ENST00000434492.2_Missense_Mutation_p.P227H|CPT1B_ENST00000395650.2_Missense_Mutation_p.P430H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.P430H|CPT1B_ENST00000457250.1_Missense_Mutation_p.P396H|CPT1B_ENST00000440709.1_Intron	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	430					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCATCTTCGGGGTCATAGGA	0.572000													31	185					1.22384e-17	1.99307e-17	0.002836	1	0
PSD	5662	broad.mit.edu	37	10	104173805	104173805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104173805G>A	ENST00000020673.5	-	5	1800	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	PSD_ENST00000406432.1_Missense_Mutation_p.S425L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	425					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCCTCCAGCGAGGCGAGGCT	0.652000													29	19					0	0	0.002096	0	0
POLR3GL	84265	broad.mit.edu	37	1	145456714	145456714	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145456714A>T	ENST00000369314.1	-	8	686	c.580T>A	c.(580-582)Tac>Aac	p.Y194N	POLR3GL_ENST00000369313.3_Missense_Mutation_p.Y171N	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	194										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACATGATGTAATCAGTTTCC	0.408000													42	107					0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24681479	24681479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24681479C>T	ENST00000396475.2	+	4	561	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	MPP6_ENST00000222644.4_Missense_Mutation_p.H88Y|MPP6_ENST00000409761.1_5'UTR	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	88	L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAAAGAACCTCACTTCCAGGT	0.363000													32	73					0	0	0.003755	0	0
FAT2	2196	broad.mit.edu	37	5	150946879	150946879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150946879C>T	ENST00000261800.5	-	1	1626	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	538	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.W538C(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGGGATCCCCAGTCTGATG	0.463000													81	27					0	0	0.003610	0	0
PSG5	5673	broad.mit.edu	37	19	43690509	43690509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43690509C>T	ENST00000404580.1	-	1	137	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG5_ENST00000407356.1_Missense_Mutation_p.G17R|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.G17R|PSG5_ENST00000407568.1_Missense_Mutation_p.G17R|PSG5_ENST00000366175.3_Missense_Mutation_p.G17R|PSG5_ENST00000342951.6_Missense_Mutation_p.G17R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	17					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGCAGGAGCCCCTTCCAGGTG	0.587000													28	105					0	0	0.004878	0	0
MECOM	2122	broad.mit.edu	37	3	168813034	168813034	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:168813034C>G	ENST00000464456.1	-	11	3459		c.e11-1		MECOM_ENST00000494292.1_Splice_Site|MECOM_ENST00000460814.1_Splice_Site|MECOM_ENST00000468789.1_Splice_Site|MECOM_ENST00000472280.1_Splice_Site|MECOM_ENST00000264674.3_Splice_Site|MECOM_ENST00000392736.3_Splice_Site|MECOM_ENST00000433243.2_Splice_Site	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus								sequence-specific DNA binding transcription factor activity	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTTGCATCTGAAAAATAA	0.333000													4	23					0	0	0.000248	0	0
SLX4	84464	broad.mit.edu	37	16	3639858	3639858	+	Missense_Mutation	SNP	G	G	A	rs141860134		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3639858G>A	ENST00000294008.3	-	12	4421	c.3781C>T	c.(3781-3783)Ccg>Tcg	p.P1261S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1261	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGGCCAGCGGGGTGGCGGGC	0.677000								Direct reversal of damage					12	35					0	0	0.002450	0	0
SLC38A4	55089	broad.mit.edu	37	12	47162189	47162189	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47162189C>T	ENST00000447411.1	-	15	1652	c.1444_splice	c.e15-1	p.G482_splice	SLC38A4_ENST00000266579.4_Splice_Site_p.G482_splice	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	482					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAGAAGAAGCCCCTGAGAAGA	0.403000													4	23					0	0	0.000602	0	0
CDH11	1009	broad.mit.edu	37	16	65006808	65006808	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:65006808G>A	ENST00000394156.3	-	9	1842	c.1390_splice	c.e9+1	p.I463_splice	CDH11_ENST00000268603.4_Splice_Site_p.I463_splice|CDH11_ENST00000566827.1_Splice_Site_p.I337_splice			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	463	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATACTTACGGATTTCTGCTG	0.358000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	33					0	0	0.006122	0	0
RIPK3	11035	broad.mit.edu	37	14	24806151	24806151	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24806151C>T	ENST00000216274.5	-	9	1494	c.1275_splice	c.e9-1	p.G426_splice	RP11-934B9.3_ENST00000555591.1_Splice_Site_p.G100_splice	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	426					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTCTCAGCCCCCTGCAAACAG	0.542000													29	91					0	0	0.002445	0	0
BCAR1	9564	broad.mit.edu	37	16	75268959	75268959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:75268959G>A	ENST00000546196.1	-	5	3403	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	BCAR1_ENST00000538440.2_Missense_Mutation_p.P613L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P631L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P659L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P631L|BCAR1_ENST00000162330.5_Missense_Mutation_p.P613L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P631L|BCAR1_ENST00000535626.2_Missense_Mutation_p.P465L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.P611L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	613	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCAGGCCCCGGGGCAGTGGC	0.677000													11	40					0	0	0.000673	0	0
CDH6	1004	broad.mit.edu	37	5	31323113	31323113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31323113G>A	ENST00000265071.2	+	12	2336	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	691					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTACGAAGGGACATTGTGCC	0.498000													34	19					0	0	0.003271	0	0
KEAP1	9817	broad.mit.edu	37	19	10610578	10610578	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10610578G>A	ENST00000171111.5	-	2	679	c.132C>T	c.(130-132)ccC>ccT	p.P44P	KEAP1_ENST00000393623.2_Silent_p.P44P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGCTGGGAGGGCGTCACCT	0.642000													44	49					0	0	0.003610	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306491	61306491	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61306491C>T	ENST00000341074.5	-	7	811	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATGGTATTTCCAGGACCTTGG	0.398000													21	51					0	0	0.001523	0	0
HNF4G	3174	broad.mit.edu	37	8	76470901	76470901	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:76470901T>A	ENST00000396423.2	+	7	976	c.852T>A	c.(850-852)gaT>gaA	p.D284E	HNF4G_ENST00000354370.1_Missense_Mutation_p.D247E	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	247					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TATTTTTTGATCCAGGTTGGT	0.308000													51	60					0	0	0.003610	0	0
POLQ	10721	broad.mit.edu	37	3	121208787	121208787	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121208787A>C	ENST00000264233.5	-	16	3119	c.2991T>G	c.(2989-2991)aaT>aaG	p.N997K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	997					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTCTCTTTATTTATATCTA	0.363000								DNA polymerases (catalytic subunits)					17	54					0	0	0.006122	0	0
ZNF567	163081	broad.mit.edu	37	19	37210633	37210633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37210633C>T	ENST00000585696.1	+	3	2144	c.914C>T	c.(913-915)tCg>tTg	p.S305L	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.S336L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S305L|ZNF567_ENST00000392163.2_Missense_Mutation_p.S305L|ZNF567_ENST00000588311.1_Missense_Mutation_p.S305L			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAGAAATCGTATGAATGT	0.458000													22	11					0	0	0.001882	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876401	74876401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:74876401G>A	ENST00000331628.3	-	2	294	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.P16L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	16					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GAGATGGGCAGGGCTCCTGGG	0.657000													19	11					0	0	0.001882	0	0
IQSEC3	440073	broad.mit.edu	37	12	274933	274933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:274933G>A	ENST00000538872.1	+	11	2966	c.2848G>A	c.(2848-2850)Ggc>Agc	p.G950S	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G950S|IQSEC3_ENST00000382841.2_Missense_Mutation_p.G647S|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	950	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCGCTCTCGGGCTCCGAGAA	0.612000													6	26					0	0	0.003080	0	0
CD96	10225	broad.mit.edu	37	3	111297971	111297971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:111297971G>A	ENST00000352690.4	+	4	881	c.641G>A	c.(640-642)aGa>aAa	p.R214K	CD96_ENST00000438817.2_Missense_Mutation_p.R214K|CD96_ENST00000283285.5_Missense_Mutation_p.R230K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	230	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACAGACTACAGACTCCACCTC	0.453000									Opitz Trigonocephaly syndrome				41	30					0	0	0.007835	0	0
PLCH1	23007	broad.mit.edu	37	3	155199919	155199919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:155199919G>A	ENST00000460012.1	-	23	4163	c.3806C>T	c.(3805-3807)tCc>tTc	p.S1269F	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1269F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1269F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1307F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1307					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTATTAGGGGATCCAGGCAG	0.493000													46	93					0	0	0.003214	0	0
RAET1G	353091	broad.mit.edu	37	6	150240791	150240791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150240791C>T	ENST00000367360.2	-	2	314	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	RAET1G_ENST00000479265.1_Missense_Mutation_p.V83I	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	83	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCGTTGTGACATTTAGTTTC	0.493000													45	102					0	0	0.003610	0	0
IL13	3596	broad.mit.edu	37	5	131995466	131995466	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:131995466C>T	ENST00000304506.3	+	3	293	c.279C>T	c.(277-279)atC>atT	p.I93I	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	93					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTGCCATCGAGAAGACCC	0.637000													47	31					0	0	0.003610	0	0
UGGT1	56886	broad.mit.edu	37	2	128936107	128936107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128936107C>T	ENST00000375990.3	+	34	4110	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	UGGT1_ENST00000259253.6_Missense_Mutation_p.S1260F			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1260					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AATATTTTCTCCGTTGCATCT	0.338000													13	43					0	0	0.002450	0	0
TNN	63923	broad.mit.edu	37	1	175046593	175046593	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175046593C>T	ENST00000239462.4	+	2	152	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	13					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTATGGGGCTCCTGCTTGGCT	0.567000													27	89					0	0	0.001786	0	0
NBPF18P	441908	broad.mit.edu	37	1	151992775	151992775	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151992775G>A	ENST00000432386.1	+	0	2440					NR_103561.1																						ATTCAAGGACGAGAAGCTTGC	0.537000													28	212					0	0	0.002445	0	0
MROH5	389690	broad.mit.edu	37	8	142446109	142446109	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142446109C>T	ENST00000606664.1	+	0	1465				MROH5_ENST00000430863.1_RNA																							CCCTGTCTGCCATGGCCGCCA	0.677000													9	14					0	0	0.006214	0	0
NXPE4	54827	broad.mit.edu	37	11	114453476	114453476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:114453476C>T	ENST00000375478.3	-	3	544	c.364G>A	c.(364-366)Gag>Aag	p.E122K	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TCCCTCACCTCCAGCAGGATG	0.597000													15	9					0	0	0.004007	0	0
TRIM63	84676	broad.mit.edu	37	1	26393949	26393949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26393949G>A	ENST00000374272.3	-	1	175	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	13						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCATGGGATTCCCATCC	0.522000													8	26					0	0	0.000673	0	0
GTF2I	2969	broad.mit.edu	37	7	74146864	74146864	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:74146864C>G	ENST00000324896.4	+	15	1554	c.1165C>G	c.(1165-1167)Ctt>Gtt	p.L389V	GTF2I_ENST00000346152.4_Missense_Mutation_p.L368V|GTF2I_ENST00000416070.1_Missense_Mutation_p.L348V|GTF2I_ENST00000353920.4_Missense_Mutation_p.L369V	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	389					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CCCGTACCCTCTTTTCCAGTC	0.403000													79	62					0	0	0.003610	0	0
PGM1	5236	broad.mit.edu	37	1	64120033	64120033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:64120033C>T	ENST00000371083.4	+	10	1917	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	PGM1_ENST00000371084.3_Nonsense_Mutation_p.R499*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R302*|PGM1_ENST00000483707.1_3'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	499					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGATGGTTCTCGAATCGTCTT	0.517000													11	21					0	0	0.001368	0	0
TDRD10	126668	broad.mit.edu	37	1	154516548	154516548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154516548C>T	ENST00000368482.4	+	9	1451	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	TDRD10_ENST00000368480.3_Missense_Mutation_p.P205S|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	205							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGTATCGTCCCGAAGACCCC	0.627000													36	63					0	0	0.004289	0	0
TMEM182	130827	broad.mit.edu	37	2	103414344	103414344	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103414344C>T	ENST00000412401.2	+	4	559	c.354C>T	c.(352-354)gtC>gtT	p.V118V	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Silent_p.V22V|TMEM182_ENST00000409173.1_Silent_p.V75V	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	118						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCTGGGCAGTCCTGATGCTCC	0.488000													21	38					0	0	0.003954	0	0
CELSR1	9620	broad.mit.edu	37	22	46932281	46932281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46932281G>A	ENST00000262738.3	-	1	786	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L263F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	263	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGAGGATGAGGGTGCCCGCC	0.662000													56	21					0	0	0.003610	0	0
RPL18A	6142	broad.mit.edu	37	19	17972996	17972996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17972996C>T	ENST00000600147.1	+	3	328	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	RPL18A_ENST00000599870.1_Missense_Mutation_p.R69W|RPL18A_ENST00000222247.5_Missense_Mutation_p.R98W|RPL18A_ENST00000599898.1_Missense_Mutation_p.R59W			Q02543	RL18A_HUMAN	ribosomal protein L18a	98					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCGGGAATACCGGGACCTGAC	0.612000													25	75					0	0	0.003954	0	0
OR5B3	441608	broad.mit.edu	37	11	58170330	58170330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170330G>A	ENST00000309403.2	-	1	552	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAAGAGAGAACCATGACT	0.398000													24	27					0	0	0.002780	0	0
STAT4	6775	broad.mit.edu	37	2	191937854	191937854	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:191937854G>A	ENST00000392320.2	-	5	749	c.435C>T	c.(433-435)caC>caT	p.H145H	STAT4_ENST00000358470.4_Silent_p.H145H	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCCACTTTGTGCTCCACAT	0.403000													17	142					0	0	0.007413	0	0
ZNF366	167465	broad.mit.edu	37	5	71739929	71739929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71739929G>A	ENST00000318442.5	-	5	2379	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGGCTGTAGGGCTCCACCTC	0.677000													18	179					0	0	0.001882	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140214425C>T	ENST00000525929.1	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.P153S(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557000													32	29					0	0	0.004289	0	0
C10orf113	387638	broad.mit.edu	37	10	21435389	21435389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:21435389C>T	ENST00000529198.1	-	1	99	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.E17K|C10orf113_ENST00000377118.4_Missense_Mutation_p.E7K	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	17										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TCAGAAATTTCAGGTGCCATG	0.383000													15	28					0	0	0.004990	0	0
CA1	759	broad.mit.edu	37	8	86253846	86253846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:86253846C>T	ENST00000523953.1	-	3	1065	c.19G>A	c.(19-21)Gga>Aga	p.G7R	CA1_ENST00000542576.1_Missense_Mutation_p.G7R|CA1_ENST00000431316.1_Missense_Mutation_p.G7R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.G7R|CA1_ENST00000522389.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.G7R|CA1_ENST00000523022.1_Missense_Mutation_p.G7R			P00915	CAH1_HUMAN	carbonic anhydrase I	7					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATCATATCCCCAGTCTGGA	0.328000													16	51					0	0	0.007413	0	0
ERC2	26059	broad.mit.edu	37	3	55733504	55733504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:55733504C>T	ENST00000288221.6	-	16	3004	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	917						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		tggtCATCATCATAGTTGTCT	0.498000													50	145					0	0	0.003610	0	0
C19orf44	84167	broad.mit.edu	37	19	16611668	16611668	+	Missense_Mutation	SNP	C	C	T	rs146198206		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16611668C>T	ENST00000221671.3	+	2	221	c.65C>T	c.(64-66)tCc>tTc	p.S22F	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S22F	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	22										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGTGATGTTTCCTTGGAAGAT	0.408000													27	86					0	0	0.001512	0	0
KCNG4	93107	broad.mit.edu	37	16	84270818	84270818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84270818G>A	ENST00000568181.1	-	2	394	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	KCNG4_ENST00000308251.4_Missense_Mutation_p.R92W			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGTAGCTCCGACAGAGCCTG	0.612000													16	49					0	0	0.004990	0	0
MCM7	4176	broad.mit.edu	37	7	99693582	99693582	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:99693582G>A	ENST00000303887.5	-	11	2055	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MCM7_ENST00000354230.3_Silent_p.A294A|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	470	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TGCCGGCCTTGGCAATGGAGA	0.622000													21	63					0	0	0.001216	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192412	132192412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:132192412C>T	ENST00000359827.3	-	2	2003	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	PLXNA4_ENST00000423507.2_Missense_Mutation_p.M347I|PLXNA4_ENST00000378539.5_Missense_Mutation_p.M347I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.M347I			Q9HCM2	PLXA4_HUMAN	plexin A4	347	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGGATTTCATTTTCCGCT	0.567000													58	38					0	0	0.003610	0	0
RERG	85004	broad.mit.edu	37	12	15262375	15262375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:15262375C>T	ENST00000256953.2	-	5	605	c.269G>A	c.(268-270)gGa>gAa	p.G90E	RERG_ENST00000538313.1_Missense_Mutation_p.G90E|RERG_ENST00000546331.1_Missense_Mutation_p.G71E|RERG_ENST00000536465.1_Missense_Mutation_p.G90E	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	90					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCAAAACTTCCTCGGTCAGT	0.478000													43	283					0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572047	76572047	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:76572047G>A	ENST00000307431.8	+	20	3412	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V	CNTNAP4_ENST00000476707.1_Silent_p.V1013V|CNTNAP4_ENST00000377504.4_Silent_p.V961V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.V937V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1010					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTCATCCGTGATATACAATT	0.289000													4	13					0	0	0.000248	0	0
FRYL	285527	broad.mit.edu	37	4	48581195	48581195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48581195G>A	ENST00000537810.1	-	23	2927	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S	FRYL_ENST00000507711.1_Missense_Mutation_p.P775S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.P775S|FRYL_ENST00000358350.4_Missense_Mutation_p.P775S			O94915	FRYL_HUMAN	FRY-like	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGCTAATAGGAGAAGAGTTC	0.378000													5	26					0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130415714	130415714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130415714C>T	ENST00000370904.1	-	14	2334	c.1424G>A	c.(1423-1425)tGc>tAc	p.C475Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.C484Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.C484Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.C475Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	484	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCGATAGCTGCAACTGTAGGT	0.478000													43	1					0	0	0.003214	0	0
HDAC9	9734	broad.mit.edu	37	7	18801862	18801862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18801862C>T	ENST00000406451.3	+	15	2267	c.2117C>T	c.(2116-2118)cCc>cTc	p.P706L	HDAC9_ENST00000432645.2_Missense_Mutation_p.P706L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P709L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P665L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	706	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCACCAACCCCCTGGACGGA	0.502000													8	49					0	0	0.004482	0	0
VPS13C	54832	broad.mit.edu	37	15	62161787	62161787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:62161787C>T	ENST00000261517.5	-	80	10733	c.10660G>A	c.(10660-10662)Gga>Aga	p.G3554R	VPS13C_ENST00000249837.3_Missense_Mutation_p.G3511R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3554R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3511R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3554					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCCAATTCCTTTAAAGAAT	0.438000													34	88					0	0	0.006999	0	0
ATP2B4	493	broad.mit.edu	37	1	203667392	203667392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203667392C>T	ENST00000357681.5	+	3	1424	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	ATP2B4_ENST00000391954.2_Missense_Mutation_p.L101F|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L101F|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L101F|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L101F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	101					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGGGAAGCTCTTCAAGATGT	0.498000													26	74					0	0	0.004656	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995510	140995510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140995510C>T	ENST00000285879.4	+	4	2606	c.2320C>T	c.(2320-2322)Cct>Tct	p.P774S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	774							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGTCTCCTCTCCAGAG	0.557000										HNSCC(15;0.026)			106	20					0	0	0.003610	0	0
GRM7	2917	broad.mit.edu	37	3	7620192	7620192	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:7620192G>A	ENST00000486284.1	+	8	1873	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	GRM7_ENST00000403881.1_Silent_p.K533K|GRM7_ENST00000357716.4_Silent_p.K533K|GRM7_ENST00000389336.4_Silent_p.K533K|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.K533K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	533					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACAGAGAAAGAAGACACAGA	0.483000													23	47					0	0	0.002780	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527784	65527784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:65527784G>A	ENST00000310193.3	-	4	1029	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	286					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAGCCTAAATGATGTGCTGGG	0.423000													7	12					0	0	0.003080	0	0
GCKR	2646	broad.mit.edu	37	2	27722064	27722064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27722064G>A	ENST00000264717.2	+	6	547	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	162	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CGGGATTGAGGAACTGAAGAA	0.512000													12	32					0	0	0.003163	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970019	161970019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161970019G>A	ENST00000294794.3	-	5	1256	c.833C>T	c.(832-834)cCc>cTc	p.P278L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P279L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTCTGCAGGGGCCGCTGTGA	0.597000													53	24					0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76751784	76751784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:76751784C>T	ENST00000369950.3	-	2	316	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	43					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGTTGTTTCATTTCTTGGG	0.323000													19	43					0	0	0.001882	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348823	38348823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38348823C>T	ENST00000273173.4	+	2	686	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	SLC22A14_ENST00000448498.1_Missense_Mutation_p.L199F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	199						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATAGGCTCTCTCATCTTCAG	0.537000													30	25					0	0	0.003271	0	0
UPF3B	65109	broad.mit.edu	37	X	118971902	118971902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:118971902G>A	ENST00000276201.2	-	10	1189	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	UPF3B_ENST00000345865.2_Missense_Mutation_p.R361C	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	374	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTCTGCCTACGGCGCTCTTCT	0.468000													65	13					0	0	0.003610	0	0
C12orf44	60673	broad.mit.edu	37	12	52470668	52470668	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52470668C>T	ENST00000336854.4	+	4	829	c.351C>T	c.(349-351)atC>atT	p.I117I	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	117					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACGAGTGCATCCCATGGGAAG	0.592000													17	48					0	0	0.006122	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473696	53473696	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53473696G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AGGAATACAAGAAATTCTTTG	0.373000													29	19					0	0	0.005443	0	0
MYT1	4661	broad.mit.edu	37	20	62853301	62853301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62853301C>T	ENST00000536311.1	+	14	2742	c.2378C>T	c.(2377-2379)tCg>tTg	p.S793L	MYT1_ENST00000360149.4_Missense_Mutation_p.S468L|MYT1_ENST00000328439.1_Missense_Mutation_p.S766L			Q01538	MYT1_HUMAN	myelin transcription factor 1	766					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S766L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGGAAGTGTCGGAAGAGAAT	0.502000													23	37					0	0	0.002299	0	0
CCDC148	130940	broad.mit.edu	37	2	159201738	159201738	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:159201738C>T	ENST00000283233.5	-	3	553	c.240G>A	c.(238-240)ctG>ctA	p.L80L	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Silent_p.L89L|CCDC148_ENST00000409889.1_Silent_p.L80L	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	80										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGACTTCATTCAGCCTCTGGT	0.368000													46	85					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10415456	10415456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10415456C>T	ENST00000226207.5	-	13	1295	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	401	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAGCAGAGGGCTTTGAGCAGA	0.473000													57	128					0	0	0.003610	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692180	31692180	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31692180C>T	ENST00000360542.3	-	1	427	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	58						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACCGCAGGTCTCTTGGCAGT	0.567000													33	54					0	0	0.004878	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227242	25227242	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25227242C>T	ENST00000551631.2	+	0	545				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTAGACTTTTCGATTTCAAGA	0.348000													75	64					0	0	0.003610	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627398	21627398	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:21627398G>A	ENST00000425654.2	+	19	2745	c.2265G>A	c.(2263-2265)caG>caA	p.Q755Q	CNKSR2_ENST00000379510.3_Silent_p.Q785Q|CNKSR2_ENST00000543067.1_Silent_p.Q736Q|CNKSR2_ENST00000279451.4_Silent_p.Q785Q	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	785					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACTATCTTCAGACTCTGCCCC	0.572000													53	10					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284989	125284989	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:125284989G>A	ENST00000431078.1	+	10	1966	c.1602G>A	c.(1600-1602)ggG>ggA	p.G534G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	534	Laminin G-like 2.				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)		GTTCCCTGGGGAATTTTAGTG	0.423000													21	64					0	0	0.001216	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20232983	20232983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:20232983G>A	ENST00000175091.4	-	7	1192	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	229	Poly-Pro.				transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAGTAAGGAGGTGGTGGT	0.363000													19	47					0	0	0.002299	0	0
LAMA3	3909	broad.mit.edu	37	18	21534610	21534610	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21534610T>C	ENST00000313654.9	+	75	10241	c.10000T>C	c.(10000-10002)Taa>Caa	p.*3334Q	LAMA3_ENST00000399516.3_Nonstop_Mutation_p.*3278Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonstop_Mutation_p.*1669Q|LAMA3_ENST00000269217.6_Nonstop_Mutation_p.*1725Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGACCAGTAACCCAAGCC	0.498000													58	41					0	0	0.003610	0	0
INTS4P1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:64643370C>T	ENST00000587624.1	+	0	777																											CAGAGATATTCGAGAGGCTCT	0.398000													17	6					0	0	0.002299	0	0
LALBA	3906	broad.mit.edu	37	12	48963761	48963761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:48963761G>A	ENST00000549817.1	-	1	88	c.43C>T	c.(43-45)Cct>Tct	p.P15S	LALBA_ENST00000301046.2_Missense_Mutation_p.P15S			P00709	LALBA_HUMAN	lactalbumin, alpha-	15					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGGATGGCAGGGAACAGGATG	0.468000													145	37					0	0	0.003610	0	0
MAPK10	5602	broad.mit.edu	37	4	86988960	86988960	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86988960G>A	ENST00000395169.3	-	10	1557	c.837C>T	c.(835-837)ctC>ctT	p.L279L	MAPK10_ENST00000361569.2_Silent_p.L317L|MAPK10_ENST00000395157.3_Silent_p.L172L|MAPK10_ENST00000395161.2_Silent_p.L317L|MAPK10_ENST00000449047.2_Silent_p.L172L|MAPK10_ENST00000395166.1_Silent_p.L279L|MAPK10_ENST00000395160.3_Silent_p.L172L|MAPK10_ENST00000359221.3_Silent_p.L317L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	317	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCGCTGGGAAGAGGGAATCTG	0.483000													9	17					0	0	0.006214	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000													48	26					0	0	0.003610	0	0
FAM83A	84985	broad.mit.edu	37	8	124206276	124206276	+	Missense_Mutation	SNP	C	C	T	rs149619029		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:124206276C>T	ENST00000518448.1	+	4	2675	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	FAM83A_ENST00000546351.1_Missense_Mutation_p.R165W|FAM83A_ENST00000536633.1_Missense_Mutation_p.R221W|FAM83A_ENST00000318462.6_Missense_Mutation_p.R221W|FAM83A_ENST00000276699.6_Missense_Mutation_p.R221W|FAM83A_ENST00000522648.1_Missense_Mutation_p.R165W			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	221										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CATTTCCATCCGGAGTGTGGA	0.453000													16	26					0	0	0.004990	0	0
MYO1A	4640	broad.mit.edu	37	12	57424075	57424075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57424075G>A	ENST00000442789.2	-	25	2797	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F	MYO1A_ENST00000544473.1_Missense_Mutation_p.S675F|MYO1A_ENST00000300119.3_Missense_Mutation_p.S837F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	837					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGCTTCGGGGACAGCTGATC	0.562000													24	196					0	0	0.001512	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906936	164906936	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164906936C>T	ENST00000475390.1	-	2	2126	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	SLITRK3_ENST00000241274.3_Silent_p.E561E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	561						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCAAGGATTCTCATTGAGGT	0.532000										HNSCC(40;0.11)			13	41					0	0	0.003163	0	0
SCN2A	6326	broad.mit.edu	37	2	166201295	166201295	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166201295C>T	ENST00000375437.2	+	16	3083	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	SCN2A_ENST00000283256.6_Silent_p.S931S|SCN2A_ENST00000375427.2_Silent_p.S931S|SCN2A_ENST00000357398.3_Silent_p.S931S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	931					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTCCACTCCTTCCTGATCG	0.498000													31	61					0	0	0.001786	0	0
C14orf166B	145497	broad.mit.edu	37	14	77318763	77318763	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:77318763G>A	ENST00000393774.3	+	8	907	c.783G>A	c.(781-783)agG>agA	p.R261R	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	261										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCCACACAAGGGGAGCTGTGG	0.582000													10	1					0	0	0.006214	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472485	66472485	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66472485G>A	ENST00000533211.1	-	15	2593	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	SPTBN2_ENST00000309996.2_Silent_p.A754A|SPTBN2_ENST00000529997.1_Silent_p.A754A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	754					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTTTGCATCGGCCTGGAACT	0.677000													22	9					0	0	0.001523	0	0
UFL1	23376	broad.mit.edu	37	6	97001327	97001327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:97001327C>T	ENST00000369278.4	+	19	2399	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	778					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CTTTCTTCATCCATTAAAGAC	0.363000													8	16					0	0	0.000978	0	0
NF1	4763	broad.mit.edu	37	17	29548867	29548867	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:29548867G>A	ENST00000358273.4	+	15	2024		c.e15-1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAAATTCAGGCTCTGCTGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	35					0	0	0.003080	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867587	150867587	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150867587C>T	ENST00000243389.3	+	11	1426	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	SLC36A1_ENST00000520701.1_Silent_p.S401S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	401					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TGGTCATCTCCCTGGTGGGCT	0.617000													37	16					0	0	0.002222	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334530	5334530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:5334530C>T	ENST00000396872.2	+	6	745	c.584C>T	c.(583-585)cCc>cTc	p.P195L	SLC29A4_ENST00000406453.3_Missense_Mutation_p.P181L|SLC29A4_ENST00000297195.4_Missense_Mutation_p.P195L	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	195					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGGATGCTGCCCAAGCGGTAC	0.597000													107	123					0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177937101	177937101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:177937101G>A	ENST00000308284.6	-	2	105	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P6S|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P6S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	6					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCCTCTGGGGAGCCCAAAGT	0.498000													7	26					0	0	0.004482	0	0
RBFOX1	54715	broad.mit.edu	37	16	7743345	7743345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:7743345G>A	ENST00000547372.1	+	15	1459	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E299K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E359K|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E363K|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	51					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCAGCAGATGAAATTTCTTG	0.398000													23	45					0	0	0.006320	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449737	42449737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42449737C>T	ENST00000262407.5	-	30	3146	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	ITGA2B_ENST00000353281.4_Missense_Mutation_p.E1005K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	1039					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CACCATCACTCCCCCTCTTCA	0.577000													14	32					0	0	0.006122	0	0
HID1	283987	broad.mit.edu	37	17	72954853	72954853	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72954853G>A	ENST00000425042.2	-	10	1232	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_030630.2	NP_085133.1			HID1 domain containing																		CGAAGAAGAGGAATTTCTAGG	0.617000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	11					0	0	0.002450	0	0
BCAM	4059	broad.mit.edu	37	19	45316839	45316839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:45316839G>A	ENST00000391955.1	+	6	790	c.746G>A	c.(745-747)gGc>gAc	p.G249D	BCAM_ENST00000270233.6_Missense_Mutation_p.G249D			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	249	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGCCGCCACGGCCGCCTGGAC	0.667000													52	99					0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71825763	71825763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71825763C>T	ENST00000258104.3	+	33	3867	c.3590C>T	c.(3589-3591)cCc>cTc	p.P1197L	DYSF_ENST00000409582.3_Missense_Mutation_p.P1214L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1198L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1197L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1214L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.P1228L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1215L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1215L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1184L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1229L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1198L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1197	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCCTTAACCCCACCTGGGAC	0.597000													10	37					0	0	0.006214	0	0
CHIT1	1118	broad.mit.edu	37	1	203186116	203186116	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203186116C>T	ENST00000367229.1	-	11	1336	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	CHIT1_ENST00000255427.3_Silent_p.R415R|CHIT1_ENST00000535569.1_Silent_p.R425R|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	434	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGAAGCTGGACCGTTCCCGAG	0.597000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	53					0	0	0.003610	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814880	54814880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:54814880G>A	ENST00000585477.1	+	1	588	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		AGGGAGGTCAGAAGCTGGAGT	0.483000													11	33					0	0	0.001368	0	0
GRIP1	23426	broad.mit.edu	37	12	66849287	66849287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66849287G>A	ENST00000359742.4	-	11	1496	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	GRIP1_ENST00000286445.7_Missense_Mutation_p.S419F|GRIP1_ENST00000398016.3_Missense_Mutation_p.S367F			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	419					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CATGTTCAGGGAACTCAGGCT	0.507000													48	268					0	0	0.003610	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406562	33406562	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33406562C>T	ENST00000418600.2	+	10	1643	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	SYNGAP1_ENST00000293748.5_Silent_p.I514I|SYNGAP1_ENST00000428982.2_Silent_p.I455I|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	514	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGAATTCATCCGTGCTCTGT	0.557000													101	138					0	0	0.003610	0	0
ERCC6	2074	broad.mit.edu	37	10	50682237	50682237	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50682237A>T	ENST00000355832.5	-	13	2512	c.2434T>A	c.(2434-2436)Ttt>Att	p.F812I	ERCC6_ENST00000542458.1_Missense_Mutation_p.F182I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	812					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTCCAGAAAAGAGATCAGGG	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					13	57					0	0	0.006122	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357705	63357705	+	Missense_Mutation	SNP	G	G	A	rs141685584		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63357705G>A	ENST00000323646.5	-	3	608	c.254C>T	c.(253-255)tCg>tTg	p.S85L	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Missense_Mutation_p.S85L	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	85					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GGGCAGCGGCGAGTACTTGTC	0.547000													43	25					0	0	0.002852	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032313	10032313	+	Silent	SNP	G	G	A	rs113636131		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:10032313G>A	ENST00000396573.2	-	4	819	c.510C>T	c.(508-510)ttC>ttT	p.F170F	GRIN2A_ENST00000404927.2_Silent_p.F170F|GRIN2A_ENST00000396575.2_Silent_p.F170F|GRIN2A_ENST00000330684.3_Silent_p.F170F|GRIN2A_ENST00000535259.1_Silent_p.F13F|GRIN2A_ENST00000562109.1_Silent_p.F170F|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	170					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCAGGGAGAAGACATGCC	0.527000													13	47					0	0	0.001855	0	0
PSD4	23550	broad.mit.edu	37	2	113955447	113955447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113955447C>T	ENST00000245796.6	+	14	2776	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	PSD4_ENST00000441564.2_Nonsense_Mutation_p.Q832*	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	861	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACGTCTTCCAGCTGCGCAC	0.657000													6	18					0	0	0.001984	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615323	121615323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121615323C>T	ENST00000489711.1	+	2	564	c.176C>T	c.(175-177)tCc>tTc	p.S59F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S59F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	59					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAGCGCTTTTCCTATTATGGA	0.448000													23	47					0	0	0.004656	0	0
HELB	92797	broad.mit.edu	37	12	66703831	66703831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66703831C>T	ENST00000247815.4	+	4	1182	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	375					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAAGAAACCTCCTTGGCATTT	0.438000													50	568					0	0	0.003610	0	0
ELAC1	55520	broad.mit.edu	37	18	48510681	48510681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:48510681C>T	ENST00000269466.3	+	3	480	c.373C>T	c.(373-375)Cct>Tct	p.P125S	RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.P125S|ELAC1_ENST00000588577.1_Intron|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	125					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGAACTGGTTCCTACAGCAGA	0.463000													17	52					0	0	0.004007	0	0
TRAV6	6956	broad.mit.edu	37	14	22237194	22237194	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22237194G>A	ENST00000390428.3	+	0	278																											ACTCATACGTGAAAATGAGAA	0.453000													44	49					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179613473	179613473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179613473C>T	ENST00000360870.5	-	46	13876	c.13654G>A	c.(13654-13656)Gaa>Aaa	p.E4552K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	684	Ig-like 25.						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)			CTTATTTTTTCCTGTTGTTCC	0.313000													16	26					0	0	0.004990	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370093	35370093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35370093C>T	ENST00000373347.1	-	3	1160	c.892G>A	c.(892-894)Gac>Aac	p.D298N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D298N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	298					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGCTCAAGTCCCGGTAGGAC	0.647000													20	36					0	0	0.001216	0	0
APOB	338	broad.mit.edu	37	2	21231534	21231534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21231534G>A	ENST00000233242.1	-	26	8333	c.8206C>T	c.(8206-8208)Ctt>Ttt	p.L2736F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2736				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTATGTGAAGGTCAGGAACT	0.408000													321	258					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069548	9069548	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9069548C>T	ENST00000397910.4	-	3	18101	c.17898G>A	c.(17896-17898)agG>agA	p.R5966R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5968	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTATGGTCTTCCTCCTGCCAG	0.488000													25	42					0	0	0.003330	0	0
TAP2	6891	broad.mit.edu	37	6	32782291	32782291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32782291G>A	ENST00000452392.2	-	14	2443	c.2270C>T	c.(2269-2271)cCa>cTa	p.P757L	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.P150L			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GATATCCCCTGGATAGAAGCC	0.547000													38	223					0	0	0.004878	0	0
EPS15L1	58513	broad.mit.edu	37	19	16547763	16547763	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:16547763G>A	ENST00000597937.1	-	6	361	c.357C>T	c.(355-357)gcC>gcT	p.A119A	EPS15L1_ENST00000535753.2_Silent_p.A119A|EPS15L1_ENST00000594975.1_Silent_p.A119A|EPS15L1_ENST00000248070.6_Silent_p.A119A|EPS15L1_ENST00000455140.2_Silent_p.A119A	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	119					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CAGCCCAGTGGGCCTCTGCAG	0.502000													32	31					0	0	0.006999	0	0
PTPRS	5802	broad.mit.edu	37	19	5225815	5225815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5225815G>A	ENST00000372412.4	-	17	2653	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	PTPRS_ENST00000587303.1_Missense_Mutation_p.S806F|PTPRS_ENST00000262963.6_Missense_Mutation_p.S802F|PTPRS_ENST00000348075.2_Missense_Mutation_p.S784F|PTPRS_ENST00000357368.4_Missense_Mutation_p.S806F|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.S784F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	806	Fibronectin type-III 5.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TACCGTGATGGAGTACGCGGT	0.647000													5	20					0	0	0.000602	0	0
OR13H1	347468	broad.mit.edu	37	X	130678432	130678432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130678432C>T	ENST00000338616.3	+	1	483	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATCAGCAATCCCCTGCGTTA	0.532000													94	14					0	0	0.003610	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073389	8073389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:8073389G>A	ENST00000377482.5	-	4	1493	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	424					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GGTAATGGCTGGATTTGGGCG	0.423000													25	15					0	0	0.002780	0	0
ITGA1	3672	broad.mit.edu	37	5	52221138	52221138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52221138G>A	ENST00000282588.6	+	19	2892	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	812					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAAATAAGGAAAAATGTAT	0.398000													5	77					0	0	0.001984	0	0
CLN3	1201	broad.mit.edu	37	16	28498850	28498850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28498850G>A	ENST00000357806.7	-	5	530	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	CLN3_ENST00000569430.1_Silent_p.L129L|CLN3_ENST00000355477.5_Silent_p.L129L|CLN3_ENST00000395653.4_Silent_p.L29L|CLN3_ENST00000354630.5_Silent_p.L129L|CLN3_ENST00000357076.5_Silent_p.L129L|CLN3_ENST00000359984.7_Silent_p.L129L|CLN3_ENST00000568224.1_Silent_p.L51L|CLN3_ENST00000360019.2_Silent_p.L129L|CLN3_ENST00000535392.1_Silent_p.L51L|CLN3_ENST00000357857.9_Silent_p.L75L|CLN3_ENST00000565316.1_Silent_p.L129L|CLN3_ENST00000333496.9_Silent_p.L105L|CLN3_ENST00000567963.1_Silent_p.L129L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	0					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.L129L(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCCCACTGACGAGAACCCGGG	0.587000													11	34					0	0	0.000978	0	0
CMYA5	202333	broad.mit.edu	37	5	79033165	79033165	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79033165C>T	ENST00000446378.2	+	2	8608	c.8577C>T	c.(8575-8577)tcC>tcT	p.S2859S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2859						perinuclear region of cytoplasm		p.S2859S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGACACATCCGATGTGCCTA	0.413000													89	29					0	0	0.003610	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187890	70187890	+	Missense_Mutation	SNP	G	G	A	rs143860688		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:70187890G>A	ENST00000320256.4	-	1	1507	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	311					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGCAGAAGGCGAAACTTCTTC	0.567000													31	96					0	0	0.003755	0	0
TRAV16	28667	broad.mit.edu	37	14	22459135	22459135	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22459135C>T	ENST00000390444.1	+	0	287																											AAACCATTTGCTCAAGAGGAA	0.433000													8	13					0	0	0.006214	0	0
SLX4IP	128710	broad.mit.edu	37	20	10604013	10604013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:10604013G>A	ENST00000334534.5	+	8	1393	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.E405*(1)									AAAGAAATACGAAAGAGGCCA	0.448000													6	3					0	0	0.001984	0	0
COL25A1	84570	broad.mit.edu	37	4	109745366	109745366	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:109745366C>T	ENST00000399132.1	-	35	2339	c.1809G>A	c.(1807-1809)cgG>cgA	p.R603R	COL25A1_ENST00000399127.1_Silent_p.R606R|COL25A1_ENST00000399126.1_Silent_p.R603R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	603	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTCTCACCCCGTGGACCAG	0.413000													17	9					0	0	0.001216	0	0
DYM	54808	broad.mit.edu	37	18	46645263	46645263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:46645263G>A	ENST00000269445.6	-	15	2054	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DYM_ENST00000442713.2_Nonsense_Mutation_p.R343*|RP11-15F12.3_ENST00000585251.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	533						Golgi apparatus		p.R533*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AACATCATTCGAATCACTTCT	0.403000													8	27					0	0	0.004482	0	0
MPP2	4355	broad.mit.edu	37	17	41956706	41956706	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:41956706G>A	ENST00000269095.4	-	12	1723	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	MPP2_ENST00000536246.1_Silent_p.F462F|MPP2_ENST00000523501.1_Silent_p.F462F|MPP2_ENST00000520305.1_Silent_p.F334F|MPP2_ENST00000518766.1_Silent_p.F518F|MPP2_ENST00000461854.1_Silent_p.F497F|MPP2_ENST00000377184.3_Silent_p.F490F	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	497	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)		GCAGGGTCTCGAAGTCTGGGG	0.597000													24	57					0	0	0.002780	0	0
UNC5B	219699	broad.mit.edu	37	10	73051390	73051390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73051390G>A	ENST00000335350.6	+	10	1912	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	UNC5B_ENST00000373192.4_Missense_Mutation_p.G488E	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	499					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGGCAGATGGGGCTGACCTG	0.647000													19	38					0	0	0.001523	0	0
BICD1	636	broad.mit.edu	37	12	32481426	32481426	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32481426C>T	ENST00000548411.1	+	5	2218	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S	BICD1_ENST00000281474.5_Silent_p.S679S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	679	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCTAAAGTCCCTGCTGAGCA	0.507000													18	59					0	0	0.006122	0	0
THEMIS	387357	broad.mit.edu	37	6	128135035	128135035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:128135035C>T	ENST00000368250.1	-	5	1012	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	THEMIS_ENST00000368248.2_Missense_Mutation_p.E251K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E251K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E216K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	251	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTGACTTCGACATCTAGA	0.348000													61	16					0	0	0.003610	0	0
SCN2A	6326	broad.mit.edu	37	2	166201289	166201289	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166201289C>T	ENST00000375437.2	+	16	3077	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F	SCN2A_ENST00000283256.6_Silent_p.F929F|SCN2A_ENST00000375427.2_Silent_p.F929F|SCN2A_ENST00000357398.3_Silent_p.F929F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	929					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGACTTTTTCCACTCCTTCC	0.507000													30	64					0	0	0.002096	0	0
GHR	2690	broad.mit.edu	37	5	42719252	42719252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:42719252C>T	ENST00000230882.4	+	10	1833	c.1643C>T	c.(1642-1644)cCt>cTt	p.P548L	GHR_ENST00000537449.1_Missense_Mutation_p.P361L|GHR_ENST00000357703.3_Missense_Mutation_p.P526L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	548					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTGTGGCTCCTCACATCAAG	0.493000													4	31					0	0	0.000602	0	0
GRIK2	2898	broad.mit.edu	37	6	102074293	102074293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:102074293G>A	ENST00000369138.1	+	3	812	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	108					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCCATCTTCGGGCCTTCACA	0.537000													114	40					0	0	0.003610	0	0
ITGA11	22801	broad.mit.edu	37	15	68695308	68695308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:68695308G>A	ENST00000423218.2	-	2	208	c.113C>T	c.(112-114)aCc>aTc	p.T38I	ITGA11_ENST00000315757.7_Missense_Mutation_p.T38I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	38					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAAGAAGGCGGTCCTGGAGCC	0.612000													9	18					0	0	0.001368	0	0
SENP2	59343	broad.mit.edu	37	3	185316753	185316753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185316753C>T	ENST00000296257.5	+	4	539	c.299C>T	c.(298-300)tCg>tTg	p.S100L	SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.S90L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	100					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGGTATTTTCGAACTCTTCA	0.363000													193	167					0	0	0.003610	0	0
CMIP	80790	broad.mit.edu	37	16	81725423	81725423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:81725423C>T	ENST00000537098.3	+	11	1504	c.1432C>T	c.(1432-1434)Caa>Taa	p.Q478*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.Q384*|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Nonsense_Mutation_p.Q325*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	444						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGTTTGCTTCAACCCATTCC	0.542000													7	26					0	0	0.003080	0	0
CILP	8483	broad.mit.edu	37	15	65499260	65499260	+	Missense_Mutation	SNP	C	C	T	rs143925933	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65499260C>T	ENST00000261883.4	-	4	450	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	95					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTCAGTGGTCCGAGCCTCTAG	0.647000													4	25					0	0	0.000602	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478220	42478220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42478220G>A	ENST00000434000.1	-	9	1273	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P409S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	409						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTAGAAAGGGAAAATTAGGT	0.433000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	97					0	0	0.001216	0	0
ECE1	1889	broad.mit.edu	37	1	21546524	21546524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21546524G>A	ENST00000415912.2	-	19	2314	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	ECE1_ENST00000264205.6_Missense_Mutation_p.S743F|ECE1_ENST00000374893.6_Missense_Mutation_p.S746F|ECE1_ENST00000357071.4_Missense_Mutation_p.S734F|ECE1_ENST00000436918.2_Missense_Mutation_p.S714F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	746					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GAACTCCTTGGAATTGGAGAG	0.612000													15	26					0	0	0.006122	0	0
GRID1	2894	broad.mit.edu	37	10	87628888	87628888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:87628888C>T	ENST00000327946.7	-	6	915	c.830G>A	c.(829-831)aGg>aAg	p.R277K		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	277						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CACGGTCATCCTTCCAAGGGC	0.522000										Multiple Myeloma(13;0.14)			26	81					0	0	0.002096	0	0
DOCK3	1795	broad.mit.edu	37	3	51297629	51297629	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:51297629C>T	ENST00000266037.9	+	23	2250	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	743						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)		GTCACGGATCCTGTACTCACG	0.468000													25	12					0	0	0.003954	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883070	43883070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43883070G>A	ENST00000443950.2	-	3	749	c.263C>T	c.(262-264)tCc>tTc	p.S88F	HNRNPF_ENST00000337970.3_Missense_Mutation_p.S88F|HNRNPF_ENST00000544000.1_Missense_Mutation_p.S88F|HNRNPF_ENST00000356053.3_Missense_Mutation_p.S88F|HNRNPF_ENST00000357065.4_Missense_Mutation_p.S88F	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	88					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGTTCTGTGGGACTTGAACAC	0.512000													43	33					0	0	0.002852	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432573	73432573	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:73432573T>C	ENST00000263666.4	-	10	3258	c.3144A>G	c.(3142-3144)acA>acG	p.T1048T	PDZRN3_ENST00000462146.2_Silent_p.T705T|PDZRN3_ENST00000535920.1_Silent_p.T770T|PDZRN3_ENST00000479530.1_Silent_p.T765T|PDZRN3_ENST00000466780.1_Silent_p.T705T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1048							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGGGGATTTTGTGCCGTGGG	0.408000													30	99					0	0	0.001512	0	0
SUSD4	55061	broad.mit.edu	37	1	223465992	223465992	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:223465992C>T	ENST00000343846.3	-	2	783	c.148_splice	c.e2-1	p.G50_splice	SUSD4_ENST00000366878.4_Splice_Site_p.G50_splice|SUSD4_ENST00000344029.6_Splice_Site_p.G50_splice|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	50						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTCATCGAACCCTACATCAA	0.512000													5	35					0	0	0.000602	0	0
GSTM5	2949	broad.mit.edu	37	1	110256073	110256073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110256073C>T	ENST00000369813.1	+	2	927	c.22C>T	c.(22-24)Caa>Taa	p.Q8*	GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Nonsense_Mutation_p.Q68*			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTGGTGGCCCAACTGAGCTT	0.567000													26	44					0	0	0.001512	0	0
CHTOP	26097	broad.mit.edu	37	1	153614878	153614878	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153614878C>T	ENST00000368686.1	+	2	267	c.259C>T	c.(259-261)Cta>Tta	p.L87L	CHTOP_ENST00000368687.1_Silent_p.L101L|CHTOP_ENST00000403433.1_Silent_p.L126L|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Silent_p.L126L|CHTOP_ENST00000368694.3_Silent_p.L126L			Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	126	Arg/Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CACCAGAACCCTACTTAGGGG	0.602000													26	82					0	0	0.005443	0	0
KCNK5	8645	broad.mit.edu	37	6	39159434	39159434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:39159434C>T	ENST00000359534.3	-	5	1070	c.732G>A	c.(730-732)tgG>tgA	p.W244*		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	244					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGCTCACCTTCCAGTTGACAA	0.592000													32	106					0	0	0.003271	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463617	25463617	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25463617C>T	ENST00000424208.1	+	0	2900				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CTTGCTTTTCCTGGGCCAGTG	0.577000													9	10					0	0	0.004482	0	0
AQR	9716	broad.mit.edu	37	15	35178780	35178780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:35178780G>A	ENST00000156471.5	-	25	2989	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	922						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCATCTCCTGGAACCCCTAGA	0.363000													54	59					0	0	0.003610	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529337	102529337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:102529337C>T	ENST00000372680.1	-	3	449	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	52	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ctctcgctttccctcgcattc	0.522000													23	4					0	0	0.001882	0	0
TNR	7143	broad.mit.edu	37	1	175306693	175306693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175306693C>T	ENST00000367674.1	-	19	4213	c.3505G>A	c.(3505-3507)Gat>Aat	p.D1169N	TNR_ENST00000263525.2_Missense_Mutation_p.D1169N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1169	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGGTCATATCACAGTACACT	0.512000													37	29					0	0	0.006999	0	0
PRB2	653247	broad.mit.edu	37	12	11546491	11546491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11546491C>T	ENST00000389362.4	-	3	556	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.R153L(1)|p.R174L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.607000													118	80					0	0	0.003610	0	0
AGAP11	119385	broad.mit.edu	37	10	88769359	88769359	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88769359C>T	ENST00000444431.1	+	0	3959				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGAGCTGTCCCTGGGCCAGC	0.592000													38	89					0	0	0.006999	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559563	140559563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140559563G>A	ENST00000239444.2	+	1	2193	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		650	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGTG	0.706000													30	20					0	0	0.002222	0	0
PTPN7	5778	broad.mit.edu	37	1	202128574	202128574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:202128574G>A	ENST00000309017.3	-	2	1045	c.272C>T	c.(271-273)tCa>tTa	p.S91L	PTPN7_ENST00000308986.5_5'UTR|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.S25L	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						ACTCAGCCATGAGGTCTGCCT	0.632000													31	32					0	0	0.001512	0	0
CCDC108	255101	broad.mit.edu	37	2	219892725	219892725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:219892725C>T	ENST00000341552.5	-	13	1941	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	CCDC108_ENST00000409865.3_Missense_Mutation_p.E609K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E620K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E620K|CCDC108_ENST00000410037.1_Missense_Mutation_p.E555K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	620						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCATGTCCTCCAGATCCTGC	0.577000													24	34					0	0	0.006320	0	0
CP	1356	broad.mit.edu	37	3	148930247	148930247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:148930247C>T	ENST00000264613.6	-	2	647	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	129	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCCTCATGTTCCTTATAGTAA	0.368000													8	28					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196723387	196723387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196723387C>T	ENST00000312428.6	-	43	7978	c.7878G>A	c.(7876-7878)atG>atA	p.M2626I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2626	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATTATCATCATTTCATCAA	0.383000													15	42					0	0	0.004990	0	0
DOCK2	1794	broad.mit.edu	37	5	169081436	169081436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169081436C>T	ENST00000256935.8	+	2	153	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	25	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAGCCCCCCAGCTCTC	0.557000													31	23					0	0	0.003755	0	0
NR5A2	2494	broad.mit.edu	37	1	200017507	200017507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:200017507C>T	ENST00000367362.3	+	5	917	c.671C>T	c.(670-672)cCt>cTt	p.P224L	NR5A2_ENST00000544748.1_Missense_Mutation_p.P152L|NR5A2_ENST00000236914.3_Missense_Mutation_p.P178L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	224					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAAGGCCTACCTCTGAACCAT	0.512000													101	57					0	0	0.003610	0	0
TSG101	7251	broad.mit.edu	37	11	18505616	18505616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18505616G>A	ENST00000536719.1	-	8	778	c.644C>T	c.(643-645)cCc>cTc	p.P215L	TSG101_ENST00000251968.3_Missense_Mutation_p.P215L|TSG101_ENST00000357193.3_Missense_Mutation_p.P110L			Q99816	TS101_HUMAN	tumor susceptibility 101	215					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATCCCTACTGGGACCTGCAGG	0.498000													65	12					0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9404516	9404516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9404516G>A	ENST00000378501.2	+	24	2420	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	PLCB4_ENST00000414679.2_Missense_Mutation_p.R814Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.R802Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.R802Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R814Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.R802Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTCCCTTCGAAATGAGGGA	0.408000													8	7					0	0	0.003080	0	0
ZNF608	57507	broad.mit.edu	37	5	123983241	123983241	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:123983241C>A	ENST00000306315.5	-	4	3271	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	ZNF608_ENST00000504926.1_Missense_Mutation_p.A519S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	946	Ser-rich.					intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCATCGTCAGCAGCATCAGAT	0.507000													47	12					6.17242e-35	1.00841e-34	0.003610	1	0
TTLL7	79739	broad.mit.edu	37	1	84408173	84408173	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:84408173C>T	ENST00000260505.8	-	7	1073	c.696G>A	c.(694-696)aaG>aaA	p.K232K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	232	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTGGAATGTACTTCTCTGTAC	0.358000													12	12					0	0	0.002450	0	0
GSDMB	55876	broad.mit.edu	37	17	38073467	38073467	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38073467G>T	ENST00000394175.2	-	1	326	c.103C>A	c.(103-105)Cgc>Agc	p.R35S	GSDMB_ENST00000394179.1_Missense_Mutation_p.R35S|GSDMB_ENST00000418519.1_Missense_Mutation_p.R35S|GSDMB_ENST00000520542.1_Missense_Mutation_p.R35S|GSDMB_ENST00000360317.3_Missense_Mutation_p.R35S|GSDMB_ENST00000309481.7_Missense_Mutation_p.R35S	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	35						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGGAAGCAGCGGAATCTATCA	0.483000													6	190					0.00307968	0.00492749	0.003080	1	0
AGER	177	broad.mit.edu	37	6	32150708	32150708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32150708C>T	ENST00000375076.4	-	6	702	c.601G>A	c.(601-603)Gat>Aat	p.D201N	AGER_ENST00000438221.2_Missense_Mutation_p.D217N|AGER_ENST00000375067.3_Missense_Mutation_p.D187N|AGER_ENST00000375070.3_Missense_Mutation_p.D232N|AGER_ENST00000375069.3_Missense_Mutation_p.D100N|AGER_ENST00000375055.2_Missense_Mutation_p.D201N|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	201	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGACGGGGATCTCCTCCCCGG	0.622000													310	409					0	0	0.003610	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751162	19751162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:19751162C>T	ENST00000400113.3	-	4	1065	c.961G>A	c.(961-963)Ggg>Agg	p.G321R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	321					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G321R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACCACATCCCCCCTGTACAAC	0.552000													37	34					0	0	0.005524	0	0
GPC3	2719	broad.mit.edu	37	X	132887940	132887940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:132887940C>T	ENST00000370818.3	-	3	1046	c.601G>A	c.(601-603)Gca>Aca	p.A201T	GPC3_ENST00000543339.1_Missense_Mutation_p.A147T|GPC3_ENST00000394299.2_Missense_Mutation_p.A201T	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	201						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCACGTCTTGCTCCTCGGAGG	0.473000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				118	23					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179650595	179650595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179650595C>T	ENST00000589042.1	-	14	2574	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	TTN_ENST00000460472.2_Missense_Mutation_p.G738R|TTN_ENST00000342175.6_Missense_Mutation_p.G738R|TTN_ENST00000360870.5_Missense_Mutation_p.G784R|TTN_ENST00000591111.1_Missense_Mutation_p.G784R|TTN_ENST00000359218.5_Missense_Mutation_p.G738R|TTN_ENST00000342992.6_Missense_Mutation_p.G784R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	784							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G784R(3)|p.G738R(3)		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)			ATGTGCATTCCCTTTTGATCA	0.463000													22	25					0	0	0.002299	0	0
RXFP2	122042	broad.mit.edu	37	13	32376299	32376299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32376299G>A	ENST00000298386.2	+	18	2093	c.2022G>A	c.(2020-2022)tgG>tgA	p.W674*	RXFP2_ENST00000380314.1_Nonsense_Mutation_p.W650*	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	674						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGACTTCCTGGATAGTGATTT	0.343000													22	33					0	0	0.005443	0	0
OR2G6	391211	broad.mit.edu	37	1	248685694	248685694	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248685694C>T	ENST00000343414.4	+	1	779	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTGGTCATCATTTTCTATG	0.453000													20	86					0	0	0.001216	0	0
KRT6A	3853	broad.mit.edu	37	12	52886819	52886819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52886819C>T	ENST00000330722.6	-	1	222	c.154G>A	c.(154-156)Gga>Aga	p.G52R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	52	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTCCTCCACATGCACCA	0.662000													15	74					0	0	0.002299	0	0
SLC9A9	285195	broad.mit.edu	37	3	143297500	143297500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:143297500G>A	ENST00000316549.6	-	7	1029	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	274					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATTCCCCACAGACTGGAAGAA	0.458000													16	41					0	0	0.003163	0	0
MYO3A	53904	broad.mit.edu	37	10	26455032	26455032	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26455032C>T	ENST00000265944.5	+	27	3202	c.3036C>T	c.(3034-3036)ccC>ccT	p.P1012P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1012	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCGAGGAGCCCCGCATGAGCC	0.458000													46	113					0	0	0.003610	0	0
LCP2	3937	broad.mit.edu	37	5	169677741	169677741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169677741C>T	ENST00000046794.5	-	20	2087	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	LCP2_ENST00000521416.1_Missense_Mutation_p.G286E|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TACCTCTTTCCCTCGGAGTCC	0.413000													19	72					0	0	0.001882	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033165	20033165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20033165C>T	ENST00000377340.2	-	2	336	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CRNKL1_ENST00000377327.4_Missense_Mutation_p.G90E|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.G102E(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGCACCGTTTCCATGGTGACC	0.612000													11	50					0	0	0.001368	0	0
AKR1E2	83592	broad.mit.edu	37	10	4881973	4881973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:4881973C>T	ENST00000298375.7	+	6	706	c.635C>T	c.(634-636)tCc>tTc	p.S212F	AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	212						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TTTTGCCAATCCAGAGATGTG	0.448000													26	15					0	0	0.002096	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117311214C>T	ENST00000369478.3	+	5	973	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	289	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000													14	21					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179592968	179592968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179592968C>T	ENST00000589042.1	-	67	19807	c.19583G>A	c.(19582-19584)aGa>aAa	p.R6528K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6211K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5284K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6211	Ig-like 46.						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)			GCACACAAGTCTGTATTTTGC	0.393000													4	23					0	0	0.000602	0	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79913410G>A	ENST00000409678.3	-	9	1382	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	333						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTGCACCACGAACACAGGGC	0.701000													13	19					0	0	0.004990	0	0
OR13D1	286365	broad.mit.edu	37	9	107456939	107456939	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107456939C>T	ENST00000318763.5	+	1	280	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCCTCATTATCATCACCATCT	0.453000													59	80					0	0	0.003610	0	0
ZNF70	7621	broad.mit.edu	37	22	24086047	24086047	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:24086047G>A	ENST00000341976.3	-	2	1741	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	427						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCCCCCGGAAGGACTTGCCGC	0.547000													152	16					0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057191	40057191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:40057191C>T	ENST00000336649.4	+	19	2795	c.2795C>T	c.(2794-2796)cCt>cTt	p.P932L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.P891L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P926L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P926L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P891L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P891L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	926					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCTAGGTCCTGCTGGGGCT	0.652000													27	13					0	0	0.006320	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	C	T	rs144363872	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29430158C>T	ENST00000377136.1	+	4	1077	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_ENST00000442615.1_Silent_p.F204F|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.F204F|OR2H1_ENST00000396792.2_Silent_p.F204F|OR2H1_ENST00000377133.1_Silent_p.F204F			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000													169	49					0	0	0.003610	0	0
ATF7IP	55729	broad.mit.edu	37	12	14631255	14631255	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:14631255C>T	ENST00000544627.1	+	12	3290	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	ATF7IP_ENST00000536444.1_Silent_p.P981P|ATF7IP_ENST00000543189.1_Silent_p.P981P|ATF7IP_ENST00000261168.4_Silent_p.P982P|ATF7IP_ENST00000540793.1_Silent_p.P982P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	982					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAACAGACCCCAAAAAACTAA	0.393000													7	50					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472064	25472064	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25472064G>A	ENST00000453082.2	+	0	1106					NR_003343.1																						TGTCTCCCCAGATGGTGACCC	0.607000													4	3					0	0	0.000248	0	0
PNISR	25957	broad.mit.edu	37	6	99856123	99856123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:99856123G>A	ENST00000369239.5	-	7	902	c.698C>T	c.(697-699)cCc>cTc	p.P233L	PNISR_ENST00000438806.1_Missense_Mutation_p.P233L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	233						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AATCCAAGCGGGAAGAGTCCT	0.358000													32	9					0	0	0.004289	0	0
KCNT2	343450	broad.mit.edu	37	1	196227610	196227610	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:196227610G>A	ENST00000367433.5	-	25	2954	c.2853C>T	c.(2851-2853)atC>atT	p.I951I	KCNT2_ENST00000367431.4_Silent_p.I909I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.I975I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	975						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						CTTCTACACTGATAGATATTT	0.363000													10	57					0	0	0.000978	0	0
EGFR	1956	broad.mit.edu	37	7	55269037	55269037	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:55269037C>T	ENST00000275493.2	+	25	3280	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	EGFR_ENST00000454757.2_Silent_p.L982L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.L990L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1035	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACTCCCCTCCTGAGCTCTCT	0.488000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	83					0	0	0.002445	0	0
COL10A1	1300	broad.mit.edu	37	6	116442158	116442158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:116442158C>T	ENST00000327673.4	-	2	1528	c.1121G>A	c.(1120-1122)gGg>gAg	p.G374E	COL10A1_ENST00000243222.4_Missense_Mutation_p.G374E|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	374	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		ACCCTTAGCCCCAGGGTATCC	0.592000													5	21					0	0	0.001168	0	0
PUS7L	83448	broad.mit.edu	37	12	44148638	44148638	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:44148638C>T	ENST00000416848.2	-	2	899	c.411G>A	c.(409-411)ctG>ctA	p.L137L	PUS7L_ENST00000553166.1_Silent_p.L137L|PUS7L_ENST00000551923.1_Silent_p.L137L|PUS7L_ENST00000344862.5_Silent_p.L137L|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	137					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CAAAATTATTCAGTAACTCAT	0.363000													26	122					0	0	0.005443	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919284	21919284	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21919284C>T	ENST00000240662.2	-	3	993	c.648G>A	c.(646-648)agG>agA	p.R216R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	216						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCATGCTTTTCCTCAGGTCAC	0.507000													18	100					0	0	0.001216	0	0
FAM151A	338094	broad.mit.edu	37	1	55077409	55077409	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:55077409C>T	ENST00000302250.2	-	6	970	c.810G>A	c.(808-810)ctG>ctA	p.L270L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.L270L	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	270						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GCCACAGCGTCAGGCTGTACC	0.602000													19	43					0	0	0.002299	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037846	220037846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220037846G>A	ENST00000409789.1	-	9	1122	c.695C>T	c.(694-696)tCt>tTt	p.S232F	CNPPD1_ENST00000360507.5_Missense_Mutation_p.S232F			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	232					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TAACAGGCAAGACAGCTGCAG	0.502000													5	13					0	0	0.000602	0	0
HDAC5	10014	broad.mit.edu	37	17	42155754	42155754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42155754G>A	ENST00000225983.6	-	27	3685	c.3362C>T	c.(3361-3363)cCt>cTt	p.P1121L	HDAC5_ENST00000586802.1_Missense_Mutation_p.P1120L|HDAC5_ENST00000393622.2_Missense_Mutation_p.P1120L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P1035L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1120					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCACAGGGCAGGCTCCTGCTC	0.567000													15	18					0	0	0.004990	0	0
OR14A16	284532	broad.mit.edu	37	1	247978955	247978955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247978955G>A	ENST00000357627.1	-	1	76	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAAGAGAATCGAATGCAAAAT	0.393000													10	34					0	0	0.000673	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58258017	58258017	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:58258017C>T	ENST00000249750.4	-	8	1574	c.807G>A	c.(805-807)aaG>aaA	p.K269K	ALDH1A2_ENST00000559517.1_Silent_p.K173K|ALDH1A2_ENST00000537372.1_Silent_p.K248K|ALDH1A2_ENST00000558231.1_Silent_p.K240K|ALDH1A2_ENST00000347587.3_Silent_p.K231K	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	269					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTGGATAAGCTTTCCAACCT	0.448000													20	38					0	0	0.001216	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265577	37265577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37265577C>T	ENST00000315392.4	-	3	534	c.323G>A	c.(322-324)tGg>tAg	p.W108*	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Nonsense_Mutation_p.W35*|PLXDC1_ENST00000394316.2_Nonsense_Mutation_p.W108*|PLXDC1_ENST00000444911.2_Nonsense_Mutation_p.W68*	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	108					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATCTACCCACAGTTCCCG	0.607000													8	25					0	0	0.000673	0	0
KANSL2	54934	broad.mit.edu	37	12	49065687	49065687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49065687G>A	ENST00000550347.1	-	4	1196	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C	KANSL2_ENST00000420613.2_Missense_Mutation_p.R202C|KANSL2_ENST00000553086.1_Missense_Mutation_p.R202C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R7C			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	202																	GACTGCAAACGAATTAGCTTT	0.403000													188	202					0	0	0.003610	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504210	220504210	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220504210C>T	ENST00000358055.3	+	20	3542	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	SLC4A3_ENST00000373760.2_Silent_p.I1010I|SLC4A3_ENST00000317151.3_Silent_p.I1010I|SLC4A3_ENST00000373762.3_Silent_p.I1037I|SLC4A3_ENST00000273063.6_Silent_p.I1037I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGCTTATCGTCAGCCAGA	0.662000													19	27					0	0	0.002780	0	0
COL6A6	131873	broad.mit.edu	37	3	130345328	130345328	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:130345328G>A	ENST00000358511.6	+	24	4909		c.e24-1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGTTTAACAGGGAGAACCTG	0.438000													28	29					0	0	0.002445	0	0
MIR409	574413	broad.mit.edu	37	14	101531703	101531703	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:101531703C>T	ENST00000362237.1	+	0	67					NR_029975.1																						CGGTGAACCCCTTTTCGGTAT	0.582000													10	39					0	0	0.000673	0	0
CRTC2	200186	broad.mit.edu	37	1	153924553	153924553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153924553G>A	ENST00000368633.1	-	10	1065	c.938C>T	c.(937-939)aCc>aTc	p.T313I	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	313					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGAGTCATGGTGTGGGTCAA	0.622000													20	88					0	0	0.001523	0	0
ARMC8	25852	broad.mit.edu	37	3	137991881	137991881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137991881C>T	ENST00000469044.1	+	17	1823	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.R487W|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.R476W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R504W|ARMC8_ENST00000485396.1_Missense_Mutation_p.R445W|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.R508W|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R451W	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	518							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAGCTATTCCGGTTATTATC	0.373000													183	409					0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346472	89346472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:89346472G>A	ENST00000301030.4	-	9	6938	c.6478C>T	c.(6478-6480)Ctt>Ttt	p.L2160F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2160F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2160	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGGAGCAAGACTTTCTTCC	0.637000													8	27					0	0	0.004482	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907965	12907965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12907965C>T	ENST00000317869.6	-	2	403	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCATTTTTCTCCTTATCATAT	0.478000													12	76					0	0	0.001855	0	0
GSDMA	284110	broad.mit.edu	37	17	38130526	38130526	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:38130526G>A	ENST00000301659.4	+	9	870	c.751_splice	c.e9-1	p.G251_splice		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	251					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GTCCCCATAGGGGACGTACAC	0.557000													4	15					0	0	0.003080	0	0
PARN	5073	broad.mit.edu	37	16	14698029	14698029	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14698029C>G	ENST00000437198.2	-	11	898	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PARN_ENST00000539279.1_Missense_Mutation_p.E78Q|PARN_ENST00000420015.2_Missense_Mutation_p.E207Q|PARN_ENST00000341484.7_Missense_Mutation_p.E192Q	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	253					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTCTGCTGCTCTCTTCTTTTG	0.338000													3	18					0	0	0.000602	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806560	97806560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97806560G>A	ENST00000358642.2	+	1	544	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTTCTACTGTGAAATTTTACA	0.308000													17	60					0	0	0.006122	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652648	62652648	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:62652648G>A	ENST00000337910.5	-	5	739	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RHOBTB1_ENST00000357917.4_Silent_p.P134P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	134	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAAGGATAACGGGTGTTCGAG	0.493000													12	62					0	0	0.002450	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539						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)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)			14	14					0	0	0.003163	0	0
ANKS6	203286	broad.mit.edu	37	9	101498825	101498825	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101498825G>A	ENST00000353234.4	-	15	2639	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	ANKS6_ENST00000375018.1_Silent_p.A865A|ANKS6_ENST00000375019.2_Silent_p.A563A|ANKS6_ENST00000540940.1_Silent_p.A669A			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	864										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTTGCCAGGGGCCCTGGTGT	0.577000													3	9					0	0	0.000248	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604011	54604011	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54604011C>T	ENST00000474759.1	+	8	816	c.768C>T	c.(766-768)gaC>gaT	p.D256D	CACNA2D3_ENST00000288197.5_Silent_p.D256D|CACNA2D3_ENST00000415676.2_Silent_p.D256D|CACNA2D3_ENST00000490478.1_Silent_p.D162D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	256	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D256D(1)|p.D256E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCCGAAAGACGTGGTCATTT	0.428000													19	52					0	0	0.001216	0	0
LPA	4018	broad.mit.edu	37	6	160978556	160978556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160978556G>A	ENST00000447678.1	-	30	4799	c.4679C>T	c.(4678-4680)cCc>cTc	p.P1560L	LPA_ENST00000316300.5_Missense_Mutation_p.P1560L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4068	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAACACCAGGGTTGTTTCCC	0.493000													38	9					0	0	0.005524	0	0
CDH11	1009	broad.mit.edu	37	16	64984673	64984673	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:64984673G>A	ENST00000394156.3	-	12	2344	c.1891C>T	c.(1891-1893)Ctg>Ttg	p.L631L	CDH11_ENST00000268603.4_Silent_p.L631L|CDH11_ENST00000566827.1_Silent_p.L505L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	631					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTTACCCAGGAGAATGACG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	6					0	0	0.002450	0	0
FCRL4	83417	broad.mit.edu	37	1	157556094	157556094	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:157556094C>T	ENST00000271532.1	-	6	1134	c.999G>A	c.(997-999)ggG>ggA	p.G333G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	333	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAGTTTTCCTCCCCAGACTCT	0.582000													51	36					0	0	0.003610	0	0
LAMA5	3911	broad.mit.edu	37	20	60903380	60903380	+	Silent	SNP	G	G	A	rs143580785	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:60903380G>A	ENST00000252999.3	-	35	4635	c.4569C>T	c.(4567-4569)gtC>gtT	p.V1523V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1523	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCACAGCCGACCAGGGGGT	0.662000													5	30					0	0	0.000602	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113140352	113140352	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:113140352G>A	ENST00000261965.3	-	22	2865	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	893					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAGACACACGGAGCCTGGGCT	0.587000													8	1					0	0	0.000673	0	0
BMP10	27302	broad.mit.edu	37	2	69093648	69093648	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:69093648G>A	ENST00000295379.1	-	2	548	c.390C>T	c.(388-390)ttC>ttT	p.F130F		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	130					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453000													26	23					0	0	0.007291	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:26147239C>T	ENST00000331351.5	+	2	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	347					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000													36	84					0	0	0.004878	0	0
VANGL1	81839	broad.mit.edu	37	1	116206850	116206850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:116206850C>T	ENST00000355485.2	+	4	1044	c.773C>T	c.(772-774)aCc>aTc	p.T258I	VANGL1_ENST00000310260.3_Missense_Mutation_p.T258I|VANGL1_ENST00000369509.1_Missense_Mutation_p.T258I|VANGL1_ENST00000369510.3_Missense_Mutation_p.T256I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	258					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCCGCTCCACCGATGGCGAG	0.597000													5	11					0	0	0.000602	0	0
OR14J1	442191	broad.mit.edu	37	6	29274755	29274755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29274755C>T	ENST00000377160.2	+	1	353	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCAGTGCATTCTTCAGGTTTT	0.458000													175	68					0	0	0.003610	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621884	65621884	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65621884G>A	ENST00000327987.4	-	13	2300	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	683										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTGGCTCCGGGGACCCTGTG	0.597000													18	81					0	0	0.007413	0	0
RERGL	79785	broad.mit.edu	37	12	18238594	18238594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18238594C>T	ENST00000229002.2	-	4	352	c.146G>A	c.(145-147)aGg>aAg	p.R49K	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Missense_Mutation_p.R48K|RERGL_ENST00000538724.1_Missense_Mutation_p.R48K	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	49	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TAGTTGTTTCCTTTCCAAACA	0.284000													25	8					0	0	0.002096	0	0
OAS3	4940	broad.mit.edu	37	12	113405759	113405759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:113405759G>A	ENST00000228928.7	+	14	3063	c.2884G>A	c.(2884-2886)Ggg>Agg	p.G962R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	962	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GATCTCCAAGGGGAGAGGCTC	0.532000													20	8					0	0	0.001216	0	0
DCLK3	85443	broad.mit.edu	37	3	36759552	36759552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36759552G>A	ENST00000416516.2	-	4	2192	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	568	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCCAGCTGGATGATGTTA	0.552000													62	65					0	0	0.003610	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609301	84609301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:84609301G>A	ENST00000344803.2	+	4	3963	c.3916G>A	c.(3916-3918)Gga>Aga	p.G1306R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGAGCTTGATGGAGGGGATGC	0.532000													9	10					0	0	0.000673	0	0
BAX	581	broad.mit.edu	37	19	49464237	49464237	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49464237C>T	ENST00000293288.8	+	5	540	c.540C>T	c.(538-540)tcC>tcT	p.S180S	BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000415969.2_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ccccaccgtccctgcccccCG	0.647000													12	22					0	0	0.001368	0	0
DLG5	9231	broad.mit.edu	37	10	79593792	79593792	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:79593792A>T	ENST00000372391.2	-	9	1633	c.1628T>A	c.(1627-1629)cTg>cAg	p.L543Q	DLG5_ENST00000372388.2_Missense_Mutation_p.L543Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	543					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTGTCACACAGTGTCCTGGT	0.612000													13	15					0	0	0.004990	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147162	26147162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:26147162G>A	ENST00000331351.5	+	2	1356	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	322					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCGGACCCTCGGGCTGATCGA	0.542000													96	74					0	0	0.003610	0	0
MATK	4145	broad.mit.edu	37	19	3778381	3778381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:3778381G>A	ENST00000310132.6	-	14	1722	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	MATK_ENST00000395040.2_Missense_Mutation_p.R401C|MATK_ENST00000395045.2_Missense_Mutation_p.R443C|MATK_ENST00000585778.1_Missense_Mutation_p.R441C	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	442	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTCCATGCGGTACCCCTTC	0.697000													13	43					0	0	0.004990	0	0
ETS1	2113	broad.mit.edu	37	11	128426213	128426213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:128426213G>A	ENST00000392668.3	-	3	255	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	161	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGACCAGTAGGAACTTCCTGA	0.448000													25	11					0	0	0.007291	0	0
BRINP3	339479	broad.mit.edu	37	1	190129848	190129848	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:190129848G>A	ENST00000367462.3	-	7	1365	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	FAM5C_ENST00000534846.1_Silent_p.S276S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		378						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCTTGCTAAGGCTAAAAAGCT	0.398000													38	91					0	0	0.005524	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799844	159799844	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:159799844C>T	ENST00000289707.5	+	2	378	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	77						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TTCCCGCTTCCTGGGCCGAGC	0.612000													31	130					0	0	0.001786	0	0
LILRB4	11006	broad.mit.edu	37	19	55175661	55175661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55175661C>T	ENST00000391736.1	+	6	695	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRB4_ENST00000391733.3_Missense_Mutation_p.S127L|LILRB4_ENST00000391734.3_Missense_Mutation_p.S127L|LILRB4_ENST00000270452.2_Missense_Mutation_p.S127L|LILRB4_ENST00000430952.2_Missense_Mutation_p.S127L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	127	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCCTTTCAGCCCTGCCG	0.582000													20	84					0	0	0.001882	0	0
PALLD	23022	broad.mit.edu	37	4	169812165	169812165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:169812165G>A	ENST00000335742.7	+	12	2940	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	PALLD_ENST00000261509.6_Missense_Mutation_p.R686Q|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.R199Q|PALLD_ENST00000505667.1_Missense_Mutation_p.R686Q|PALLD_ENST00000512127.1_Missense_Mutation_p.R304Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	910	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GACCTGGAACGAAAACTTCGC	0.473000									Pancreatic Cancer, Familial Clustering of				28	25					0	0	0.006320	0	0
ILDR2	387597	broad.mit.edu	37	1	166896415	166896415	+	Missense_Mutation	SNP	G	G	A	rs142876093	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:166896415G>A	ENST00000271417.3	-	7	938	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	ILDR2_ENST00000469934.2_Missense_Mutation_p.R295C|ILDR2_ENST00000528703.1_Missense_Mutation_p.R236C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.R276C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R168C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R187C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	295						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAACCTTTGCGAACTGTTGAG	0.438000													25	77					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179604819	179604819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179604819C>T	ENST00000589042.1	-	48	13365	c.13141G>A	c.(13141-13143)Gaa>Aaa	p.E4381K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4018K|TTN_ENST00000342175.6_Missense_Mutation_p.E4210K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4064K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4143K|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4064							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4143K(1)		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)			AGCAAGCTTTCCTTAGAAAGA	0.498000													19	31					0	0	0.001216	0	0
IGSF6	10261	broad.mit.edu	37	16	21658603	21658603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21658603C>T	ENST00000268389.4	-	2	339	c.278G>A	c.(277-279)aGg>aAg	p.R93K	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	93	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		GAGGGCCTCCCTCACTGTGAA	0.502000													15	53					0	0	0.004007	0	0
SMR3A	26952	broad.mit.edu	37	4	71232489	71232489	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71232489G>A	ENST00000226460.4	+	3	279	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	61	Pro-rich.					extracellular region		p.G61E(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ATGGTCCAGGGAGATTTCCAC	0.547000													34	58					0	0	0.002445	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665993	8665993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8665993C>T	ENST00000270328.4	-	5	895	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R210Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	210					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCAAGGTCCGCAGCCACCA	0.637000													9	25					0	0	0.006214	0	0
PAM	5066	broad.mit.edu	37	5	102282552	102282552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:102282552G>A	ENST00000438793.3	+	7	1008	c.538G>A	c.(538-540)Gac>Aac	p.D180N	PAM_ENST00000455264.2_Missense_Mutation_p.D180N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.D180N|PAM_ENST00000274392.9_Missense_Mutation_p.D83N|PAM_ENST00000346918.2_Missense_Mutation_p.D180N|PAM_ENST00000348126.2_Missense_Mutation_p.D180N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	180	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TAATAACAAGGACTGTTCTGG	0.358000													6	22					0	0	0.001984	0	0
CABP4	57010	broad.mit.edu	37	11	67223165	67223165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67223165G>A	ENST00000325656.5	+	1	348	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	91					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCCTGGGCCGGCCTCTTCTCG	0.682000													7	4					0	0	0.003080	0	0
OR2T1	26696	broad.mit.edu	37	1	248569430	248569430	+	Silent	SNP	C	C	T	rs145103744		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248569430C>T	ENST00000366474.1	+	1	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TACCTTATATCGGCACAACTG	0.378000													27	123					0	0	0.004656	0	0
HOXA4	3201	broad.mit.edu	37	7	27168851	27168851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:27168851G>A	ENST00000360046.5	-	2	1021	c.956C>T	c.(955-957)tCc>tTc	p.S319F	HOXA4_ENST00000428284.2_Missense_Mutation_p.S319F|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGATTATAtggaggagggaac	0.577000													23	44					0	0	0.002299	0	0
PXDNL	137902	broad.mit.edu	37	8	52370162	52370162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52370162C>T	ENST00000356297.4	-	9	978	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R293Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	293	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGGTGTTTCGGATCATGAG	0.428000													69	60					0	0	0.003610	0	0
GALNT8	26290	broad.mit.edu	37	12	4870139	4870139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4870139G>A	ENST00000252318.2	+	7	1526	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	397	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCAGTGTGGAGGGAAGGTCGA	0.502000													31	17					0	0	0.003755	0	0
REEP6	92840	broad.mit.edu	37	19	1496322	1496322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1496322G>A	ENST00000233596.3	+	4	491	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	129						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCCCTGGAACGGGGCTC	0.662000													26	31					0	0	0.001786	0	0
LILRA1	11024	broad.mit.edu	37	19	55107259	55107259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55107259C>T	ENST00000251372.3	+	6	999	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	273	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGCCCACAGCCCCAGGCTGG	0.602000													29	68					0	0	0.007291	0	0
COL4A3	1285	broad.mit.edu	37	2	228128651	228128651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228128651G>A	ENST00000396578.3	+	21	1468	c.1306G>A	c.(1306-1308)Gga>Aga	p.G436R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	436	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGACCTCCAGGACCGCCAGG	0.582000													13	29					0	0	0.002450	0	0
LPHN2	23266	broad.mit.edu	37	1	82409444	82409444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:82409444C>T	ENST00000370728.1	+	8	1834	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	LPHN2_ENST00000370717.2_Missense_Mutation_p.P397S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P397S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P397S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P397S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P397S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P397S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P401S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P397S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P397S|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCACCTGATCCTGCCCAAGG	0.343000													13	26					0	0	0.001368	0	0
GRIN1	2902	broad.mit.edu	37	9	140058408	140058408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140058408G>A	ENST00000350902.5	+	18	2718	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371561.3_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371555.4_Intron			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCCTGGCCACGGCCCTCCTCC	0.697000													5	18					0	0	0.000602	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715751	71715751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71715751G>A	ENST00000393524.2	-	5	1526	c.793C>T	c.(793-795)Cct>Tct	p.P265S	PHLPP2_ENST00000568954.1_Missense_Mutation_p.P265S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.P265S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P265S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P300S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	265						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGATGCTCAGGAACCTCCTCG	0.473000													47	34					0	0	0.003610	0	0
SGTA	6449	broad.mit.edu	37	19	2762546	2762546	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:2762546G>A	ENST00000221566.2	-	7	755	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	198					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCTTGAGGTTGGACTTGT	0.642000													19	65					0	0	0.001523	0	0
CPAMD8	27151	broad.mit.edu	37	19	17058029	17058029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17058029C>T	ENST00000443236.1	-	21	2689	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	839						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGAGAGCTTCATGTACACCT	0.602000													33	106					0	0	0.004289	0	0
DPYS	1807	broad.mit.edu	37	8	105405096	105405096	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105405096G>A	ENST00000351513.2	-	8	1491	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	453					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCGTGACACTGAACACTCCGG	0.468000													76	67					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139190783	139190783	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:139190783G>A	ENST00000395297.1	-	10	1194	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	342										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCACCCTCAGGGTGTGGTGT	0.498000										HNSCC(54;0.14)			12	26					0	0	0.001855	0	0
MORC2	22880	broad.mit.edu	37	22	31328894	31328894	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:31328894G>C	ENST00000215862.4	-	23	3681	c.2318C>G	c.(2317-2319)aCg>aGg	p.T773R	MORC2_ENST00000397641.2_Missense_Mutation_p.T835R	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	835							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTTGGTGTCGTGTCTGTGGG	0.622000													156	70					0	0	0.003610	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115537180	115537180	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:115537180G>A	ENST00000369310.3	+	12	1741	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000354462.3_Intron|PLEKHS1_ENST00000369312.4_Intron|PLEKHS1_ENST00000369309.1_Intron	NM_182601.1	NP_872407.1			pleckstrin homology domain containing, family S member 1																		ACTCTTTCAGGATTCTTTCAT	0.428000													3	6					0	0	0.000248	0	0
KLK3	354	broad.mit.edu	37	19	51361325	51361325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51361325C>T	ENST00000360617.3	+	3	247	c.247C>T	c.(247-249)Cct>Tct	p.P83S	KLK3_ENST00000326003.2_Missense_Mutation_p.P83S|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.P83S			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	83	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGTTTCATCCTGAAGACAC	0.542000													15	15					0	0	0.006122	0	0
PSG5	5673	broad.mit.edu	37	19	43679500	43679500	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43679500C>T	ENST00000404580.1	-	4	919	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG5_ENST00000407356.1_Silent_p.G277G|PSG5_ENST00000599812.1_Silent_p.G370G|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.G277G|PSG5_ENST00000342951.6_Silent_p.G277G			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	277	Ig-like C2-type 2.				female pregnancy	extracellular region		p.G277G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAAACTTCCCATTAATTG	0.443000													60	169					0	0	0.003610	0	0
PDHA2	5161	broad.mit.edu	37	4	96761999	96761999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:96761999G>A	ENST00000295266.4	+	1	761	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	233					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCTACTGAGAGAGCAGCAGCC	0.438000													26	6					0	0	0.004656	0	0
DDR2	4921	broad.mit.edu	37	1	162746107	162746107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:162746107C>T	ENST00000367922.2	+	17	2668	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.Q744*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	744	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TTACCGGATCCAGGGCCGGGC	0.493000													28	120					0	0	0.002445	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891299	131891299	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131891299G>A	ENST00000337738.1	+	5	624	c.357G>A	c.(355-357)ctG>ctA	p.L119L	PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000357197.4_Silent_p.L55L|PPP2R4_ENST00000452489.2_Silent_p.L119L|PPP2R4_ENST00000348141.5_Silent_p.L90L|PPP2R4_ENST00000358994.4_Silent_p.L84L|PPP2R4_ENST00000393370.2_Silent_p.L84L	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	119					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TCAACACGCTGGACAGGTGGA	0.542000													11	30					0	0	0.000978	0	0
DGKB	1607	broad.mit.edu	37	7	14613992	14613992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:14613992C>T	ENST00000403951.2	-	20	2037	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	DGKB_ENST00000399322.3_Missense_Mutation_p.E540K|DGKB_ENST00000402815.1_Missense_Mutation_p.E539K|DGKB_ENST00000258767.5_Missense_Mutation_p.E540K|DGKB_ENST00000406247.3_Missense_Mutation_p.E540K|DGKB_ENST00000407950.1_Missense_Mutation_p.E532K|DGKB_ENST00000444700.2_Missense_Mutation_p.E521K|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	540	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCTCACCTTCGTAACCTAGT	0.323000													22	115					0	0	0.002299	0	0
TRPM6	140803	broad.mit.edu	37	9	77442714	77442714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:77442714G>A	ENST00000451710.3	-	7	1058	c.821C>T	c.(820-822)tCt>tTt	p.S274F	TRPM6_ENST00000360774.1_Missense_Mutation_p.S274F|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274F|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269F|TRPM6_ENST00000376864.4_Missense_Mutation_p.S274F|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274F|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	274					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTGCAGAGAGAGGTACTT	0.517000													21	42					0	0	0.002780	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808219	8808219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:8808219G>A	ENST00000447110.1	-	5	411	c.287C>T	c.(286-288)cCa>cTa	p.P96L	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P96L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P96L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	96	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGAGTCTGGTGGGAAGTGTGG	0.547000													37	32					0	0	0.002222	0	0
AACSP1	729522	broad.mit.edu	37	5	178224592	178224592	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:178224592C>T	ENST00000503486.2	-	0	586					NR_024035.1																						GGTGCTCCGTCCGATGCTGGA	0.592000													3	10					0	0	0.004672	0	0
MED16	10025	broad.mit.edu	37	19	868158	868158	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:868158G>A	ENST00000325464.1	-	16	2727	c.2577C>T	c.(2575-2577)caC>caT	p.H859H	MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Silent_p.H859H|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000395808.3_3'UTR	NM_005481.2	NP_005472.2	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	859					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGAGTGGTGTGTGGACT	0.687000													9	10					0	0	0.004482	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999715	46999715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:46999715C>T	ENST00000374314.4	+	1	1790	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	GPRIN2_ENST00000374317.1_Missense_Mutation_p.H279Y			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	279										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGAAGATCCACTGTAGGTT	0.612000													16	75					0	0	0.004990	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669681	122669681	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:122669681C>T	ENST00000284273.5	+	10	1764	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	463	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATACCATTATCGATCATGTCT	0.443000													16	6					0	0	0.004007	0	0
ABCA1	19	broad.mit.edu	37	9	107555133	107555133	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107555133C>T	ENST00000374736.3	-	42	6085	c.5691G>A	c.(5689-5691)cgG>cgA	p.R1897R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1897			R -> W (in HDLD2; uncertain pathogenicity).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTCTTTCCCGCCTCACAT	0.398000													13	28					0	0	0.001368	0	0
POU4F3	5459	broad.mit.edu	37	5	145719773	145719773	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:145719773G>A	ENST00000230732.4	+	2	872	c.783G>A	c.(781-783)gaG>gaA	p.E261E	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	261					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTACCGAGAGAAGAACAGCA	0.602000													13	53					0	0	0.001368	0	0
DROSHA	29102	broad.mit.edu	37	5	31526377	31526377	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:31526377G>A	ENST00000511367.2	-	4	907	c.663C>T	c.(661-663)tcC>tcT	p.S221S	DROSHA_ENST00000442743.1_Silent_p.S221S|DROSHA_ENST00000513349.1_Silent_p.S221S|DROSHA_ENST00000344624.3_Silent_p.S221S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	221	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCCTTTCTGGGGACCTTCTCT	0.562000													9	47					0	0	0.000673	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110708	8110708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:8110708C>T	ENST00000223145.5	+	6	1681	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	375										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCCCCGGAATCCCAGGATGGT	0.502000													123	82					0	0	0.003610	0	0
SYT2	127833	broad.mit.edu	37	1	202566020	202566020	+	Silent	SNP	G	G	A	rs139376371		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:202566020G>A	ENST00000367267.1	-	9	1317	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	SYT2_ENST00000367268.4_Silent_p.F375F	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	375	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGCTGCCCACGAAGATCTTGC	0.612000													14	72					0	0	0.004007	0	0
INSR	3643	broad.mit.edu	37	19	7170680	7170680	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7170680C>A	ENST00000341500.5	-	6	1390	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	INSR_ENST00000302850.5_Missense_Mutation_p.G451W	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	451					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAGTTTCCCCTGAGTGATG	0.478000													12	722					0.00244969	0.00392611	0.002450	1	0
ZNF512	84450	broad.mit.edu	37	2	27824259	27824259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27824259C>T	ENST00000355467.4	+	7	702	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ZNF512_ENST00000416005.2_Missense_Mutation_p.R178C|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.R206C|ZNF512_ENST00000413371.2_Missense_Mutation_p.R130C|ZNF512_ENST00000556601.1_Missense_Mutation_p.R76C			Q96ME7	ZN512_HUMAN	zinc finger protein 512	207					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)					GAAACAACTTCGTTCACTGGC	0.378000													24	82					0	0	0.001786	0	0
CILP2	148113	broad.mit.edu	37	19	19655067	19655067	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19655067C>T	ENST00000586018.1	+	8	1833	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	CILP2_ENST00000291495.4_Silent_p.P571P			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	571						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACACGATCCCCCTGGGCGAGC	0.632000													25	87					0	0	0.004656	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612635	96612635	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96612635C>T	ENST00000371321.3	+	9	1519	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	479					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGCTTCTGTCCCGCCCTTCT	0.463000													18	74					0	0	0.001523	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24884614C>T	ENST00000382554.3	+	9	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCATTTTTCCCGCTGCATT	0.637000													33	44					0	0	0.002096	0	0
ADAM7	8756	broad.mit.edu	37	8	24304708	24304708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24304708G>A	ENST00000175238.6	+	3	249	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	ADAM7_ENST00000441335.2_Missense_Mutation_p.E56K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E56K|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	56					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAAAACGTATGAAGAAGAATT	0.363000													23	23					0	0	0.003954	0	0
SORCS3	22986	broad.mit.edu	37	10	106865176	106865176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:106865176G>A	ENST00000369701.3	+	7	1342	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	372						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCACCTGCAGGATCCAGGAA	0.478000													23	29					0	0	0.002780	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717389	169717389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:169717389G>A	ENST00000444448.2	+	17	1911	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	NOSTRIN_ENST00000397209.2_Missense_Mutation_p.G394R|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.G479R|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.G394R|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.G344R|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.G422R|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.G344R			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	422	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ATCTTCTGGTGGGCAGAGCAA	0.418000													14	22					0	0	0.003163	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028416	142028416	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142028416C>T	ENST00000390353.2	+	0	207																											ACCATAACTCCATGTACTGGT	0.502000													36	193					0	0	0.007835	0	0
OR5H2	79310	broad.mit.edu	37	3	98002309	98002309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:98002309C>T	ENST00000355273.2	+	1	578	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATGATTTCCTGTACTGAC	0.308000													17	36					0	0	0.004990	0	0
FEZF1	389549	broad.mit.edu	37	7	121943722	121943722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:121943722G>A	ENST00000442488.2	-	1	837	c.770C>T	c.(769-771)cCc>cTc	p.P257L	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P257L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P207L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	257					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAACTTTGGGCTTGGCATT	0.507000													191	18					0	0	0.003610	0	0
PPEF1	5475	broad.mit.edu	37	X	18822164	18822164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:18822164C>T	ENST00000361511.4	+	14	1714	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	PPEF1_ENST00000544635.1_Missense_Mutation_p.P342L|PPEF1_ENST00000359763.6_Missense_Mutation_p.P354L|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	407	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAATGTAAGCCCGAAGGGTAT	0.433000													20	19					0	0	0.001882	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433242	4433242	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4433242C>T	ENST00000301280.5	+	13	2480	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	793	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCATCCCCTCTAAGTCCC	0.647000								Chromatin Structure					30	55					0	0	0.001786	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321182	79321182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79321182G>A	ENST00000428286.1	-	8	6131	c.4931C>T	c.(4930-4932)tCa>tTa	p.S1644L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2003L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2003					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTAGGTATGATTTTTCTTG	0.413000													14	21					0	0	0.004007	0	0
MDN1	23195	broad.mit.edu	37	6	90482425	90482425	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:90482425G>A	ENST00000369393.3	-	14	2065	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_ENST00000428876.1_Silent_p.F650F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	650					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGTAGCAGCGAAAGTGAACT	0.498000													17	37					0	0	0.001216	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:131973708C>T	ENST00000414305.1	+	5	632	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.R102C|ENPP3_ENST00000427148.2_Missense_Mutation_p.R68C|ENPP3_ENST00000357639.3_Missense_Mutation_p.R102C|ENPP3_ENST00000543135.1_Missense_Mutation_p.R68C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000													24	32					0	0	0.003954	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106152	9106152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:9106152C>T	ENST00000383836.3	-	5	1027	c.600G>A	c.(598-600)atG>atA	p.M200I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.M200I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGAGCAGGTTCATGCTGAGGT	0.577000			T	RAF1	pilocytic astrocytoma								29	66					0	0	0.002096	0	0
DNAH7	56171	broad.mit.edu	37	2	196866570	196866570	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196866570T>C	ENST00000312428.6	-	11	1102	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	DNAH7_ENST00000410072.1_Silent_p.E334E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	334	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTCTGCACTTCTGGAAACC	0.343000													6	13					0	0	0.004482	0	0
CSF1R	1436	broad.mit.edu	37	5	149459766	149459766	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149459766G>A	ENST00000286301.3	-	4	732	c.441C>T	c.(439-441)ccC>ccT	p.P147P	CSF1R_ENST00000543093.1_Silent_p.P147P	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	147	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCGCATGAGGGGCCGGCCAC	0.617000													4	47					0	0	0.000602	0	0
IGLV1-51	28820	broad.mit.edu	37	22	22677072	22677072	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:22677072G>A	ENST00000390290.2	+	0	136				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TGCGGCCCCAGGACAGAAGGT	0.567000													108	21					0	0	0.003610	0	0
FBXO44	93611	broad.mit.edu	37	1	11718436	11718436	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:11718436C>T	ENST00000376770.1	+	4	876	c.378C>T	c.(376-378)ttC>ttT	p.F126F	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251547.5_Silent_p.F126F|FBXO44_ENST00000251546.4_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	126	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATACTTCGTTACTTCAT	0.527000													23	48					0	0	0.002780	0	0
SNAP91	9892	broad.mit.edu	37	6	84311154	84311154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:84311154G>A	ENST00000428679.2	-	16	1753	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	SNAP91_ENST00000369694.2_Missense_Mutation_p.S387F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S385F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S387F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S387F|SNAP91_ENST00000521743.1_Missense_Mutation_p.S387F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S387F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	387	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.S387Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCAGCCAAAGAATCTATATT	0.423000													9	4					0	0	0.000673	0	0
RTN1	6252	broad.mit.edu	37	14	60212477	60212477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:60212477C>T	ENST00000267484.5	-	2	1299	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	322					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTCAGGCTCCGAGACAGTG	0.483000													42	11					0	0	0.002852	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716751	13716751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:13716751C>T	ENST00000279593.3	-	13	3630	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1141					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGAGTTCTCCTTTGTTCGG	0.612000													18	14					0	0	0.004990	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235949	140235949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140235949G>A	ENST00000307360.5	+	1	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E106K|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.542000													32	207					0	0	0.002836	0	0
SMG1	23049	broad.mit.edu	37	16	18844455	18844455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:18844455G>A	ENST00000446231.2	-	51	9011	c.8599C>T	c.(8599-8601)Cca>Tca	p.P2867S	SMG1_ENST00000389467.3_Missense_Mutation_p.P2867S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2867					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						AGTGCTTCTGGAAATATGATT	0.368000													14	23					0	0	0.003163	0	0
CTNNA1	1495	broad.mit.edu	37	5	138163391	138163391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:138163391C>T	ENST00000302763.7	+	7	1136	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S246L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S349L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	349	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACCTGCTTTCGGAGTACATG	0.488000													20	64					0	0	0.002299	0	0
BRINP1	1620	broad.mit.edu	37	9	122011339	122011339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:122011339C>T	ENST00000265922.3	-	3	769	c.308G>A	c.(307-309)aGg>aAg	p.R103K	DBC1_ENST00000373964.2_Missense_Mutation_p.R103K	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		103	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCGGATGCTCCTTTGAAACTC	0.567000													10	40					0	0	0.000673	0	0
LGALS4	3960	broad.mit.edu	37	19	39294164	39294164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39294164G>A	ENST00000307751.4	-	7	1045	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	190					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCATACCGGGTTGAAGGTT	0.537000													20	51					0	0	0.003330	0	0
TIMD4	91937	broad.mit.edu	37	5	156381596	156381596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156381596G>A	ENST00000274532.2	-	2	286	c.230C>T	c.(229-231)aCc>aTc	p.T77I	TIMD4_ENST00000407087.3_Missense_Mutation_p.T77I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	77	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTCTTGAGGTCACCCTCAT	0.527000													107	523					0	0	0.003610	0	0
AADACL4	343066	broad.mit.edu	37	1	12704665	12704665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12704665C>T	ENST00000376221.1	+	1	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	34						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CACGGATATCCCTGCTACCTT	0.522000													38	66					0	0	0.006999	0	0
PDE1C	5137	broad.mit.edu	37	7	31855742	31855742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31855742C>T	ENST00000396184.3	-	16	1813	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	PDE1C_ENST00000396193.1_Missense_Mutation_p.E597K|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.E537K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E537K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E537K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	537					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGAGCCTTTTCCTCTGCTTCC	0.517000													51	126					0	0	0.003610	0	0
SNTA1	6640	broad.mit.edu	37	20	31997998	31997998	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31997998G>T	ENST00000217381.2	-	6	1451	c.1180C>A	c.(1180-1182)Cgc>Agc	p.R394S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	394	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACAAGCTGGCGGGTCCAGGCA	0.637000													10	20					4.3838e-07	7.0821e-07	0.001855	1	0
MYH1	4619	broad.mit.edu	37	17	10400511	10400511	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10400511C>T	ENST00000226207.5	-	33	4626		c.e33-1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAAATCTCCTCTGTTGGTGAA	0.328000													7	28					0	0	0.003080	0	0
CR2	1380	broad.mit.edu	37	1	207644363	207644363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207644363G>A	ENST00000367057.3	+	8	1613	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CR2_ENST00000367058.3_Missense_Mutation_p.G475E|CR2_ENST00000367059.3_Missense_Mutation_p.G475E|CR2_ENST00000458541.2_Missense_Mutation_p.G475E	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	475	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGCTACAGGAAGGCAACTC	0.428000													54	77					0	0	0.003610	0	0
MRVI1	10335	broad.mit.edu	37	11	10647561	10647561	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10647561C>T	ENST00000547195.1	-	8	1547	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	MRVI1_ENST00000552103.1_Silent_p.Q349Q|MRVI1_ENST00000436272.1_Silent_p.Q413Q|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Silent_p.Q125Q|MRVI1_ENST00000527509.2_Silent_p.Q349Q|MRVI1_ENST00000534266.2_Silent_p.Q125Q|MRVI1_ENST00000421747.1_Silent_p.Q431Q|MRVI1_ENST00000423302.2_Silent_p.Q440Q|MRVI1_ENST00000531107.1_Silent_p.Q432Q|MRVI1_ENST00000545852.1_Silent_p.Q125Q|MRVI1_ENST00000424001.1_Silent_p.Q125Q	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	413					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCACTTGTATCTGAAAGTCTT	0.587000													9	0					0	0	0.004482	0	0
C6orf25	80739	broad.mit.edu	37	6	31691460	31691460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31691460G>A	ENST00000375809.3	+	2	117	c.106G>A	c.(106-108)Gga>Aga	p.G36R	C6orf25_ENST00000375805.2_Missense_Mutation_p.G36R|C6orf25_ENST00000375810.4_Missense_Mutation_p.G36R|C6orf25_ENST00000480039.1_Missense_Mutation_p.G36R	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	36						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCTCTCCTGCGGAGGAGTCTC	0.667000													91	161					0	0	0.003610	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582423	136582423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136582423C>T	ENST00000531224.1	-	12	2989	c.2737G>A	c.(2737-2739)Gac>Aac	p.D913N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D862N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D740N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D911N|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D864N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D862N|BCLAF1_ENST00000031135.9_Missense_Mutation_p.D131N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	913					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCGTCTGTCCTTCTTTTCT	0.348000													11	101					0	0	0.001855	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911178	89911178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89911178C>T	ENST00000534061.1	+	16	1981	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P551L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	584					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAATCATTCCTTTTAATATT	0.338000													27	24					0	0	0.005443	0	0
SPTA1	6708	broad.mit.edu	37	1	158596650	158596650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158596650C>T	ENST00000368148.3	-	41	5992	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1935N|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1938					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1938N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACCACATCAGCCTTCCAG	0.468000													67	103					0	0	0.003610	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269461	150269461	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150269461G>A	ENST00000255945.2	+	3	478	c.303G>A	c.(301-303)aaG>aaA	p.K101K	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.K115K	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	101							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAACGTCCAAGGAGATTATTC	0.522000													25	64					0	0	0.003330	0	0
PCED1B	91523	broad.mit.edu	37	12	47629193	47629193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47629193C>T	ENST00000546455.1	+	4	1078	c.347C>T	c.(346-348)cCc>cTc	p.P116L	PCED1B_ENST00000432328.1_Missense_Mutation_p.P116L					PC-esterase domain containing 1B																		GAGCACGCCCCCGACCTGGTC	0.567000													34	47					0	0	0.004289	0	0
HDAC5	10014	broad.mit.edu	37	17	42188139	42188139	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42188139C>G	ENST00000225983.6	-	3	378	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	HDAC5_ENST00000586802.1_Missense_Mutation_p.E18Q|HDAC5_ENST00000393622.2_Missense_Mutation_p.E18Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.E18Q			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	18					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGCAGGATTTCCAAGGATGGT	0.572000													7	32					0	0	0.004482	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52912062	52912062	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:52912062C>A	ENST00000371544.3	-	22	3828	c.3566G>T	c.(3565-3567)tGg>tTg	p.W1189L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.W1189L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1189	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAGTCCCAGCCAAAGCTCCCC	0.358000													12	31					1.05317e-09	1.70596e-09	0.002450	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215589	20215589	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20215589G>A	ENST00000331723.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGCTTGATGAAAAAAGAAC	0.308000													19	141					0	0	0.006122	0	0
WDR72	256764	broad.mit.edu	37	15	54008826	54008826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54008826G>A	ENST00000396328.1	-	4	556	c.317C>T	c.(316-318)cCt>cTt	p.P106L	WDR72_ENST00000557913.1_Missense_Mutation_p.P106L|WDR72_ENST00000559418.1_Missense_Mutation_p.P106L|WDR72_ENST00000360509.5_Missense_Mutation_p.P106L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	106										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTGCCTGTAAGGAAGTGTAGC	0.418000													29	52					0	0	0.002836	0	0
ALS2CL	259173	broad.mit.edu	37	3	46729610	46729610	+	Missense_Mutation	SNP	G	G	A	rs144978241		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46729610G>A	ENST00000318962.4	-	3	363	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R94C	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	94					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	p.R94C(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGTACACGGTCAGCACCT	0.617000													25	23					0	0	0.007291	0	0
MS4A1	931	broad.mit.edu	37	11	60233401	60233401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60233401G>A	ENST00000534668.1	+	5	633	c.344G>A	c.(343-345)gGa>gAa	p.G115E	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115E|MS4A1_ENST00000345732.4_Missense_Mutation_p.G115E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115E	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGGTCAAAGGAAAAATGATA	0.338000													22	29					0	0	0.002299	0	0
ABHD3	171586	broad.mit.edu	37	18	19282424	19282424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:19282424G>A	ENST00000289119.2	-	3	501	c.362C>T	c.(361-363)tCa>tTa	p.S121L	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.S121L	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	121						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CCAGTCCAGTGAAATCTGTCC	0.373000													19	14					0	0	0.007413	0	0
PRDM9	56979	broad.mit.edu	37	5	23517998	23517998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:23517998C>T	ENST00000296682.3	+	5	492	c.310C>T	c.(310-312)Cct>Tct	p.P104S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	104					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTCAAACCTCCTTGGATGGC	0.358000										HNSCC(3;0.000094)			100	40					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40710652	40710652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:40710652C>T	ENST00000373198.3	-	31	4443	c.4208G>A	c.(4207-4209)gGg>gAg	p.G1403E	PTPRT_ENST00000373190.1_Missense_Mutation_p.G1380E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1384E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1381E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1391E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1390E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1371E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1381	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGGCCTCCCCCATTTCTAAA	0.493000													55	58					0	0	0.003610	0	0
DNM1	1759	broad.mit.edu	37	9	130981516	130981516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:130981516G>A	ENST00000341179.7	+	4	666	c.574G>A	c.(574-576)Gag>Aag	p.E192K	DNM1_ENST00000486160.1_Missense_Mutation_p.E192K|DNM1_ENST00000393594.3_Missense_Mutation_p.E192K|DNM1_ENST00000475805.1_Missense_Mutation_p.E192K|DNM1_ENST00000372923.3_Missense_Mutation_p.E192K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	192					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTCGCCAAGGAGGTGGACCC	0.582000													21	43					0	0	0.001882	0	0
ICOS	29851	broad.mit.edu	37	2	204820433	204820433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:204820433C>T	ENST00000316386.6	+	2	200	c.133C>T	c.(133-135)Cct>Tct	p.P45S	ICOS_ENST00000435193.1_Missense_Mutation_p.P45S	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	45	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						ATGCAAATATCCTGACATTGT	0.368000													26	32					0	0	0.007291	0	0
LIPC	3990	broad.mit.edu	37	15	58840567	58840567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:58840567G>A	ENST00000414170.3	+	7	1134	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	LIPC_ENST00000299022.5_Missense_Mutation_p.V283M|LIPC_ENST00000356113.6_Missense_Mutation_p.V283M|LIPC_ENST00000433326.2_Missense_Mutation_p.V222M			P11150	LIPC_HUMAN	lipase, hepatic	283					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGAGCGATCGGTGCACCTTTT	0.577000													55	62					0	0	0.003610	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800476	67800476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67800476C>T	ENST00000313468.5	+	4	303	c.196C>T	c.(196-198)Cga>Tga	p.R66*	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	66					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	TGAGCTCTTCCGAGGTGCGTC	0.652000													28	26					0	0	0.007291	0	0
MARCH2	51257	broad.mit.edu	37	19	8486881	8486881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8486881C>T	ENST00000602117.1	+	2	612	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	MARCH2_ENST00000393944.1_Missense_Mutation_p.R53C|MARCH2_ENST00000381035.4_Missense_Mutation_p.R53C|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.R53C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	53					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACCGTCATCCGTGCCTTGGA	0.617000													20	41					0	0	0.003330	0	0
DPP9	91039	broad.mit.edu	37	19	4679940	4679940	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4679940G>A	ENST00000262960.9	-	21	2770	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	DPP9_ENST00000594671.1_Silent_p.I802I|DPP9_ENST00000598800.1_Silent_p.I802I|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	802					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGCCGTGGAGGATAAGCAAGC	0.562000													12	6					0	0	0.002450	0	0
KRT78	196374	broad.mit.edu	37	12	53233610	53233610	+	Silent	SNP	C	C	T	rs149571950	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53233610C>T	ENST00000359499.4	-	7	887	c.876G>A	c.(874-876)acG>acA	p.T292T	KRT78_ENST00000304620.4_Silent_p.T402T			Q8N1N4	K2C78_HUMAN	keratin 78	402	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGAAAGCTTCGTGCTCGTCA	0.617000													12	54					0	0	0.001368	0	0
MED12L	116931	broad.mit.edu	37	3	151094948	151094948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:151094948G>A	ENST00000474524.1	+	28	4231	c.4193G>A	c.(4192-4194)gGa>gAa	p.G1398E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1258E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1398					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACAGAATGGAATAAAGACA	0.363000													8	29					0	0	0.000978	0	0
NOL4	8715	broad.mit.edu	37	18	31432826	31432826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:31432826G>A	ENST00000261592.5	-	11	2194	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	NOL4_ENST00000535384.1_Missense_Mutation_p.L348F|NOL4_ENST00000589544.1_Missense_Mutation_p.L531F|NOL4_ENST00000538587.1_Missense_Mutation_p.L559F|NOL4_ENST00000535475.1_Missense_Mutation_p.L414F|NOL4_ENST00000269185.4_Missense_Mutation_p.L417F	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	633						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGTAAAATGAGATTTTCCAGT	0.408000													6	28					0	0	0.003080	0	0
C1orf51	148523	broad.mit.edu	37	1	150259285	150259285	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150259285C>T	ENST00000290363.5	+	5	1526	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	C1orf51_ENST00000369095.1_Silent_p.A359A|C1orf51_ENST00000369094.1_Silent_p.A271A	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	359										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCTTGGCCAGAAAGATGA	0.537000													20	84					0	0	0.001523	0	0
GXYLT1	283464	broad.mit.edu	37	12	42523607	42523607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:42523607G>A	ENST00000398675.3	-	2	500	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	GXYLT1_ENST00000280876.6_Intron	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	90					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ACATCAGAGGGCAGCATCCAA	0.388000													22	29					0	0	0.003330	0	0
GRIK1	2897	broad.mit.edu	37	21	30934107	30934107	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:30934107G>A	ENST00000399914.1	-	14	2670	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L	GRIK1_ENST00000399909.1_Silent_p.L717L|GRIK1_ENST00000389124.2_Silent_p.L732L|GRIK1_ENST00000399907.1_Silent_p.L732L|GRIK1_ENST00000327783.4_Silent_p.L732L|GRIK1_ENST00000389125.3_Silent_p.L717L|GRIK1_ENST00000535441.1_Silent_p.L734L|GRIK1_ENST00000399913.1_Silent_p.L732L|GRIK1_ENST00000309434.7_Silent_p.L734L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	732					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTCTTACCAGGGCGGTCTGC	0.512000													10	19					0	0	0.000978	0	0
ZNF365	22891	broad.mit.edu	37	10	64382881	64382881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:64382881C>T	ENST00000410046.3	+	5	1280	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	151								p.H334N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCATATAAACCACCATCTTTC	0.358000													61	61					0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40420125	40420125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40420125C>T	ENST00000221347.6	-	6	2876	c.2869G>A	c.(2869-2871)Gat>Aat	p.D957N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	957	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGCCCATCTGCTGCTTGG	0.582000													28	16					0	0	0.001786	0	0
SEC22B	9554	broad.mit.edu	37	1	145115850	145115850	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145115850C>T	ENST00000453618.1	+	0	936							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CTGTATTTTTCATCATGTTAA	0.413000													19	238					0	0	0.001523	0	0
ACAP1	9744	broad.mit.edu	37	17	7247255	7247255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7247255C>T	ENST00000158762.3	+	8	855	c.649C>T	c.(649-651)Cga>Tga	p.R217*	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	217	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GTCCCAGTATCGAAAGGAGCT	0.652000													7	3					0	0	0.001984	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956409	128956409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:128956409C>T	ENST00000274487.4	+	9	1704	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	520	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTGACGTTTCATGGTCTCGA	0.408000													22	104					0	0	0.003954	0	0
DST	667	broad.mit.edu	37	6	56458588	56458588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:56458588C>T	ENST00000370754.5	-	48	12505	c.12506G>A	c.(12505-12507)aGa>aAa	p.R4169K	DST_ENST00000370769.4_Missense_Mutation_p.R3991K|DST_ENST00000421834.2_Missense_Mutation_p.R1903K|DST_ENST00000370788.2_Missense_Mutation_p.R1903K|DST_ENST00000446842.2_Missense_Mutation_p.R3665K|DST_ENST00000361203.3_Missense_Mutation_p.R3989K|DST_ENST00000312431.6_Missense_Mutation_p.R3989K|DST_ENST00000244364.6_Missense_Mutation_p.R1577K			Q03001	DYST_HUMAN	dystonin	3989					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCAACACTCTGTTTCCAGA	0.433000													54	317					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20959854	20959854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20959854G>A	ENST00000261383.3	-	57	11293	c.11294C>T	c.(11293-11295)tCc>tTc	p.S3765F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3765					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGAGCGAGGGAGTAATAGTC	0.537000													4	34					0	0	0.000602	0	0
MYH7	4625	broad.mit.edu	37	14	23900656	23900656	+	Missense_Mutation	SNP	C	C	T	rs121913633		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23900656C>T	ENST00000355349.3	-	9	929	c.767G>A	c.(766-768)gGa>gAa	p.G256E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	256	Myosin head-like.		G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCAACTTTCCTGTTGCCCC	0.502000													75	86					0	0	0.003610	0	0
LINS	55180	broad.mit.edu	37	15	101113902	101113902	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101113902G>A	ENST00000314742.8	-	5	1398	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	LINS_ENST00000560133.1_Silent_p.S273S|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Silent_p.S392S	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	392										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGATTTCTAAGGATTTCATTA	0.338000													21	33					0	0	0.002780	0	0
AGBL2	79841	broad.mit.edu	37	11	47681899	47681899	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:47681899C>T	ENST00000525123.1	-	19	2821		c.e19-1		AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000357610.3_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2						proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GCTTCTTATTCTGTGCAAATA	0.413000													38	12					0	0	0.005524	0	0
RUFY4	285180	broad.mit.edu	37	2	218940305	218940305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:218940305G>A	ENST00000374155.3	+	8	1560	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	RUFY4_ENST00000344321.7_Missense_Mutation_p.G364R|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	364							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGCAGGCAGGGGTCGGGGGG	0.597000													7	10					0	0	0.000978	0	0
TRIM38	10475	broad.mit.edu	37	6	25983887	25983887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:25983887C>T	ENST00000357085.3	+	8	1846	c.1370C>T	c.(1369-1371)cCt>cTt	p.P457L	TRIM38_ENST00000349458.3_Missense_Mutation_p.P457L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	457	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAATATTCTCCTTTGTTTCTG	0.438000													61	34					0	0	0.003610	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718902	140718902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140718902G>A	ENST00000394576.2	+	1	364	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTAGAGGTGGAAATAACAGA	0.448000													33	33					0	0	0.002096	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898264	64898264	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:64898264C>T	ENST00000555709.1	+	14	1713	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	MTHFD1_ENST00000545908.1_Silent_p.L498L|MTHFD1_ENST00000555252.1_Silent_p.L422L|MTHFD1_ENST00000216605.7_Silent_p.L498L|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	442	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATCTCCACCTCACAGGTGACA	0.443000													16	5					0	0	0.006122	0	0
FNDC1	84624	broad.mit.edu	37	6	159636168	159636168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:159636168G>A	ENST00000297267.9	+	5	852	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E218K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	218	Fibronectin type-III 2.					extracellular region		p.E218K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGACACACGAAATTAAAAA	0.433000													10	34					0	0	0.000978	0	0
RGS12	6002	broad.mit.edu	37	4	3319756	3319756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:3319756G>A	ENST00000336727.3	+	2	2763	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	RGS12_ENST00000344733.5_Missense_Mutation_p.R620Q|RGS12_ENST00000543385.1_Missense_Mutation_p.R620Q|RGS12_ENST00000382788.3_Missense_Mutation_p.R620Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAAATGTTCGAAAGACTAAG	0.582000													28	52					0	0	0.006320	0	0
GDF15	9518	broad.mit.edu	37	19	18499380	18499380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18499380G>A	ENST00000595973.1	+	3	1113	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	GDF15_ENST00000252809.3_Missense_Mutation_p.A188T			Q99988	GDF15_HUMAN	growth differentiation factor 15	188					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GCGGCCGCAAGCCGCCAGGGG	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0.004672	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481302	140481302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140481302C>T	ENST00000231130.2	+	1	1069	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		357	Cadherin 4.				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)			CAGCCCTATTCCTGAGAACTC	0.493000													14	52					0	0	0.002450	0	0
TNIP3	79931	broad.mit.edu	37	4	122075770	122075770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122075770C>T	ENST00000454328.1	-	7	655	c.428G>A	c.(427-429)gGa>gAa	p.G143E	TNIP3_ENST00000057513.3_Missense_Mutation_p.G143E|TNIP3_ENST00000507879.1_Missense_Mutation_p.G213E|TNIP3_ENST00000509841.1_Missense_Mutation_p.G220E			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	143										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGTATTTTTTCCCTTTAAAAG	0.333000													14	23					0	0	0.001855	0	0
CAMKK2	10645	broad.mit.edu	37	12	121682970	121682970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:121682970G>A	ENST00000324774.5	-	15	2354	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	CAMKK2_ENST00000402834.4_Missense_Mutation_p.S509L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S509L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S466L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S466L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000545538.1_Missense_Mutation_p.S296L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S509L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S466L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	509					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTGACAGTGAGCGTTCCTC	0.617000													66	147					0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714066	70714066	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:70714066G>A	ENST00000530196.1	-	0	452					NR_003951.1																						CATCTGGGATGAAGAGCTGAT	0.473000													23	36					0	0	0.005443	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943217	78943217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:78943217G>A	ENST00000286627.5	-	5	1722	c.770C>T	c.(769-771)cCc>cTc	p.P257L	KCNMA1_ENST00000354353.5_Missense_Mutation_p.P257L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P257L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P257L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P257L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	257					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CACAAACACGGGGGGCACCGT	0.458000													19	14					0	0	0.001523	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260883	107260883	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:107260883G>A	ENST00000282251.5	-	12	1816	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L	CWF19L2_ENST00000433523.1_Silent_p.L597L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	597							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTAGGCTTAGATTATCATCA	0.318000													15	20					0	0	0.002450	0	0
OTOP2	92736	broad.mit.edu	37	17	72926903	72926903	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72926903G>A	ENST00000331427.4	+	6	1265	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	OTOP2_ENST00000580223.1_Silent_p.V391V	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	391						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGCTGTGGTGGCGGGCACAC	0.607000													25	32					0	0	0.003954	0	0
PKN3	29941	broad.mit.edu	37	9	131476941	131476941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131476941C>T	ENST00000291906.4	+	12	1975	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	528	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CGAGGAGACTCCGGTGAGGGG	0.642000													3	9					0	0	0.004672	0	0
PRPF40B	25766	broad.mit.edu	37	12	50026881	50026881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:50026881C>T	ENST00000261897.1	+	6	900	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P145S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P123S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	123	WW 1.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTGGGAGAAGCCCAGCGTGCT	0.607000													7	19					0	0	0.003080	0	0
SALL1	6299	broad.mit.edu	37	16	51175758	51175758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:51175758C>T	ENST00000440970.1	-	2	515	c.84G>A	c.(82-84)atG>atA	p.M28I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M125I|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	125					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCCACCTCCATGGACTCTT	0.542000													14	11					0	0	0.003163	0	0
N4BP3	23138	broad.mit.edu	37	5	177546597	177546597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:177546597C>T	ENST00000274605.5	+	2	372	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	5						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGCCACAGCCCCAGGCCCTGC	0.642000													44	17					0	0	0.003610	0	0
ATOH8	84913	broad.mit.edu	37	2	85982046	85982046	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:85982046C>A	ENST00000306279.3	+	1	1030	c.734C>A	c.(733-735)aCc>aAc	p.T245N	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	245	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGGTGCACACCATCAGCGCA	0.706000													15	27					1.05317e-09	1.70596e-09	0.002450	1	0
OTOGL	283310	broad.mit.edu	37	12	80729901	80729901	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:80729901C>T	ENST00000458043.2	+	38	4560	c.4554C>T	c.(4552-4554)tgC>tgT	p.C1518C	OTOGL_ENST00000547103.1_Silent_p.C1506C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATATCTGCTGCCCTGAGTGGG	0.418000													7	17					0	0	0.003080	0	0
OR4D11	219986	broad.mit.edu	37	11	59271107	59271107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59271107C>T	ENST00000313253.1	+	1	59	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTACTCAATCCCAAGACCAG	0.388000													16	43					0	0	0.003163	0	0
HELZ2	85441	broad.mit.edu	37	20	62197221	62197221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:62197221G>A	ENST00000467148.1	-	8	3023	c.2954C>T	c.(2953-2955)gCc>gTc	p.A985V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A416V	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTGCTCCTCGGCCAGGTCCCC	0.697000													20	7					0	0	0.001523	0	0
PVRL4	81607	broad.mit.edu	37	1	161049730	161049730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161049730G>A	ENST00000368012.3	-	2	391	c.89C>T	c.(88-90)cCc>cTc	p.P30L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	30					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCACCCGCGGGGCACCGGCC	0.632000													29	45					0	0	0.003271	0	0
ASTN1	460	broad.mit.edu	37	1	176927515	176927515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176927515C>T	ENST00000367654.2	-	10	1739	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	ASTN1_ENST00000367657.3_Missense_Mutation_p.D568N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D568N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D568N			O14525	ASTN1_HUMAN	astrotactin 1	576					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAGTCATGTCCGTCTTGCAC	0.537000													20	29					0	0	0.002299	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730456	15730456	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15730456C>T	ENST00000441682.2	+	0	472							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGATGGGCTCTTGTTAAGTG	0.522000													5	19					0	0	0.000602	0	0
MEDAG	84935	broad.mit.edu	37	13	31495964	31495964	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:31495964G>A	ENST00000380482.4	+	4	1093	c.768G>A	c.(766-768)aaG>aaA	p.K256K	TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		CTGACCGAAAGTTCAGTGTAA	0.358000													7	13					0	0	0.004482	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:118997498C>T	ENST00000328252.3	+	7	2683	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	772					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACACGGTTCCTCCAGCCTG	0.562000													26	29					0	0	0.003330	0	0
CALCR	799	broad.mit.edu	37	7	93055755	93055755	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:93055755C>T	ENST00000359558.2	-	16	1739	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	CALCR_ENST00000421592.1_Silent_p.E462E|CALCR_ENST00000360249.4_Silent_p.E462E|CALCR_ENST00000426151.1_Silent_p.E446E|CALCR_ENST00000394441.1_Silent_p.E446E	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	462					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATTCCTCAGCTCCTGATGGC	0.562000													42	154					0	0	0.003610	0	0
ASF1B	55723	broad.mit.edu	37	19	14231301	14231301	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:14231301G>A	ENST00000263382.3	-	4	1078	c.579C>T	c.(577-579)ctC>ctT	p.L193L	ASF1B_ENST00000592798.1_Silent_p.L134L	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	193					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TCTCAGGGAGGAGGCCAGGGA	0.657000													5	28					0	0	0.001984	0	0
USP28	57646	broad.mit.edu	37	11	113712389	113712389	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:113712389T>C	ENST00000003302.4	-	4	438	c.370A>G	c.(370-372)Aac>Gac	p.N124D	USP28_ENST00000537706.1_Missense_Mutation_p.N124D|USP28_ENST00000260188.5_Missense_Mutation_p.N124D|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	124					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATAACCTGTTAAGATCTCTT	0.393000													27	8					0	0	0.005443	0	0
HELZ	9931	broad.mit.edu	37	17	65156472	65156472	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:65156472G>A	ENST00000358691.5	-	17	2248	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HELZ_ENST00000580168.1_Silent_p.L695L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358000													13	29					0	0	0.001855	0	0
RAD54B	25788	broad.mit.edu	37	8	95390826	95390826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:95390826G>A	ENST00000336148.5	-	13	2408	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATATGTACAGGATATTTCTGA	0.353000								Direct reversal of damage;Homologous recombination					11	24					0	0	0.002450	0	0
FLT4	2324	broad.mit.edu	37	5	180047291	180047291	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180047291G>A	ENST00000261937.6	-	17	2502	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	FLT4_ENST00000393347.3_Silent_p.I808I|FLT4_ENST00000502649.1_Silent_p.I808I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	808					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCGTCTTGATGTCTGCGT	0.622000													82	38					0	0	0.003610	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013235	73013235	+	Silent	SNP	C	C	T	rs145038184	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:73013235C>T	ENST00000308744.6	+	4	1373	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.F326F|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.F323F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	425					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGCTGGCATTCGGCAACAGCA	0.463000													32	35					0	0	0.003271	0	0
CSMD2	114784	broad.mit.edu	37	1	34112365	34112365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34112365C>T	ENST00000373381.4	-	29	4833	c.4657G>A	c.(4657-4659)Gga>Aga	p.G1553R	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G426R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1513	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGAAGCTTCCTATGAGAGGG	0.567000													11	11					0	0	0.001368	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669422	45669422	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45669422A>T	ENST00000322157.4	+	11	1598	c.1361A>T	c.(1360-1362)gAt>gTt	p.D454V	NPEPPS_ENST00000530173.1_Missense_Mutation_p.D450V|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D374V|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	454					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TACATTGGGGATAAGGTAAAA	0.343000													16	27					0	0	0.007413	0	0
TNXB	7148	broad.mit.edu	37	6	32029321	32029321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32029321C>T	ENST00000375244.3	-	21	7546	c.7345G>A	c.(7345-7347)Gac>Aac	p.D2449N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2449N			P22105	TENX_HUMAN	tenascin XB	2509					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCCCGTCCCTGTCCTTG	0.657000													372	286					0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7583695	7583695	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7583695T>C	ENST00000379802.3	+	24	6541	c.6200T>C	c.(6199-6201)cTg>cCg	p.L2067P	DSP_ENST00000418664.2_Missense_Mutation_p.L1468P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2067	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGAGAAGCTGACTGTCGAC	0.473000													123	58					0	0	0.003610	0	0
ZNF836	162962	broad.mit.edu	37	19	52659810	52659810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52659810G>A	ENST00000322146.8	-	5	1647	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H376Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTCTCTGGTGATTTACAAGA	0.403000													19	16					0	0	0.001216	0	0
FGD2	221472	broad.mit.edu	37	6	36979490	36979490	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:36979490C>T	ENST00000274963.8	+	4	558	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	129	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGGTGTTTTTCCAGGAGCTGC	0.577000													69	42					0	0	0.003610	0	0
PTGFR	5737	broad.mit.edu	37	1	78958855	78958855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:78958855C>T	ENST00000370756.3	+	2	664	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	PTGFR_ENST00000370757.3_Missense_Mutation_p.H143Y|PTGFR_ENST00000370758.1_Missense_Mutation_p.H143Y	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	143					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.H143N(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCAATATTTCATTCTACGAA	0.413000													18	38					0	0	0.006122	0	0
SORCS3	22986	broad.mit.edu	37	10	107005369	107005369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:107005369C>T	ENST00000369701.3	+	21	3165	c.2938C>T	c.(2938-2940)Cag>Tag	p.Q980*	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	980						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCACAGTCCAGGTGGCTGC	0.468000													22	47					0	0	0.003330	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006834	29006834	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29006834C>T	ENST00000395366.2	+	5	854	c.582C>T	c.(580-582)gtC>gtT	p.V194V	PPP1CB_ENST00000358506.2_Silent_p.V194V|PPP1CB_ENST00000296122.6_Silent_p.V194V|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	194					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTACTGATGTCCCTGATACAG	0.348000													19	19					0	0	0.001882	0	0
SP100	6672	broad.mit.edu	37	2	231380111	231380111	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:231380111T>C	ENST00000264052.5	+	25	2751	c.2396T>C	c.(2395-2397)gTt>gCt	p.V799A	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	799					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTGATGATGTTGTGAAGAAA	0.458000													12	32					0	0	0.001368	0	0
KCNG2	26251	broad.mit.edu	37	18	77624193	77624193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:77624193G>A	ENST00000316249.3	+	1	526	c.526G>A	c.(526-528)Ggc>Agc	p.G176S		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	176					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGGGCTGGCGGGCAAGCTCTT	0.766000													9	19					0	0	0.006214	0	0
MMD2	221938	broad.mit.edu	37	7	4949534	4949534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4949534G>A	ENST00000404774.3	-	6	781	c.587C>T	c.(586-588)cCc>cTc	p.P196L	MMD2_ENST00000406755.1_Missense_Mutation_p.P172L|MMD2_ENST00000401401.3_Missense_Mutation_p.P172L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	196						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GACCAGGGCGGGGAAGAAGCC	0.567000													14	16					0	0	0.002450	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	T	rs143101113		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201354881C>T	ENST00000391967.2	-	4	1380	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_ENST00000367313.3_Missense_Mutation_p.R374Q	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	70					0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26490203	26490203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:26490203C>T	ENST00000265944.5	+	33	4721	c.4555C>T	c.(4555-4557)Caa>Taa	p.Q1519*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1519					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGTCAATCCAAGAAGAAAA	0.244000													4	7					0	0	0.000248	0	0
DUOX2	50506	broad.mit.edu	37	15	45405245	45405245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45405245C>T	ENST00000389039.6	-	3	485	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	DUOX2_ENST00000603300.1_Missense_Mutation_p.E34K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	34	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCTGCACTTCCCAGGGCAGT	0.657000													12	16					0	0	0.001855	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003599	119003599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:119003599C>T	ENST00000298472.5	+	3	382	c.239C>T	c.(238-240)tCc>tTc	p.S80F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	80					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCATCTTCTCCTATTATGAT	0.507000													11	38					0	0	0.000673	0	0
PCSK6	5046	broad.mit.edu	37	15	101972284	101972284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101972284C>T	ENST00000348070.1	-	4	420	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCSK6_ENST00000344273.2_Missense_Mutation_p.E141K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E141K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.E141K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	142					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)			CGTTTCACTTCCTGTTGCTGG	0.458000													14	13					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	89949562	89949562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:89949562G>A	ENST00000405460.2	+	20	4267	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1391					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	p.E1391K(1)		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)		ACAAACAAACGAATCCCATGT	0.393000													19	4					0	0	0.007413	0	0
GPR45	11250	broad.mit.edu	37	2	105858877	105858877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:105858877G>A	ENST00000258456.1	+	1	678	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	188						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCTACACGGAGCTCCCCGC	0.682000													13	7					0	0	0.001855	0	0
CRB1	23418	broad.mit.edu	37	1	197397075	197397075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:197397075C>T	ENST00000367397.1	+	3	1621	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.L355F|CRB1_ENST00000367400.3_Missense_Mutation_p.L874F|CRB1_ENST00000535699.1_Missense_Mutation_p.L805F|CRB1_ENST00000367399.2_Missense_Mutation_p.L762F			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	874	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAATGCATCTCTCAATCCAGT	0.383000													17	23					0	0	0.006122	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387558	50387558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50387558C>T	ENST00000221543.5	+	11	1474	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	TBC1D17_ENST00000535102.2_Missense_Mutation_p.P359L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	392	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TACGAGGGTCCCGAGAACCCG	0.637000													75	72					0	0	0.003610	0	0
EGLN3	112399	broad.mit.edu	37	14	34419857	34419857	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:34419857G>A	ENST00000547327.2	-	1	430	c.102C>T	c.(100-102)ttC>ttT	p.F34F	EGLN3_ENST00000250457.3_Silent_p.F34F|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	34					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CCTCGCCCAGGAAGTTGTCCA	0.682000													15	25					0	0	0.004007	0	0
CPSF6	11052	broad.mit.edu	37	12	69652685	69652685	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69652685T>C	ENST00000435070.2	+	6	1120	c.1010T>C	c.(1009-1011)cTa>cCa	p.L337P	CPSF6_ENST00000266679.8_Missense_Mutation_p.L374P|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.L264P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	337	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCCTTACACTAGCTCCTCCT	0.642000													309	96					0	0	0.003610	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297244	28297244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28297244G>A	ENST00000414429.1	-	6	1120	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31																		TCTTTGGTGTGGATTTCTGGC	0.552000													174	96					0	0	0.003610	0	0
SERTM1	400120	broad.mit.edu	37	13	37269294	37269294	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:37269294C>T	ENST00000315190.3	+	2	525	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	27						integral to membrane											TCCCACATCCCTGTCCACGTC	0.473000													46	60					0	0	0.003610	0	0
C15orf53	400359	broad.mit.edu	37	15	38990407	38990407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38990407G>A	ENST00000318792.1	+	2	211	c.201G>A	c.(199-201)tgG>tgA	p.W67*		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	67										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tcagggattggaatctgggAG	0.488000													22	24					0	0	0.003954	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994321	140994321	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140994321G>A	ENST00000285879.4	+	4	1417	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	377							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATTCCTGGGAGCCCCTCCT	0.483000										HNSCC(15;0.026)			133	11					0	0	0.003610	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550191	4550191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4550191C>T	ENST00000586582.1	-	12	1525	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	SEMA6B_ENST00000586965.1_Missense_Mutation_p.M405I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.M405I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	405	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)		CCGCCTCGTCCATCAGAGGGT	0.672000													27	23					0	0	0.005443	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46056266	46056266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46056266C>T	ENST00000536708.2	+	11	1244	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.L354F	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	354					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GAATCAGTTCCTTGATGAGCT	0.557000											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	54					0	0	0.005524	0	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:214170398C>T	ENST00000366958.4	+	2	1128	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_ENST00000261454.4_Missense_Mutation_p.R174W|PROX1_ENST00000498508.2_Missense_Mutation_p.R174W|PROX1_ENST00000435016.1_Missense_Mutation_p.R174W	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000													32	67					0	0	0.003271	0	0
EIF5	1983	broad.mit.edu	37	14	103805664	103805664	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:103805664C>T	ENST00000216554.3	+	9	1576	c.900C>T	c.(898-900)ttC>ttT	p.F300F	EIF5_ENST00000392715.2_Silent_p.F300F|EIF5_ENST00000558506.1_Silent_p.F300F	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	300	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GGCGCCATTTCCTACGAGTAA	0.398000													47	16					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858517	9858517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:9858517C>T	ENST00000396573.2	-	14	3193	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E962K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E805K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E962K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	962					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E962K(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGGAGTTCGTTCATGTTG	0.438000													50	50					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31324044	31324044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:31324044C>T	ENST00000269197.5	+	12	4232	c.4232C>T	c.(4231-4233)cCg>cTg	p.P1411L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTGCACACCCGACCGTCGCA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	59					0	0	0.003610	0	0
NFATC2	4773	broad.mit.edu	37	20	50092036	50092036	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:50092036G>A	ENST00000371564.3	-	4	1713	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	NFATC2_ENST00000414705.1_Silent_p.V478V|NFATC2_ENST00000396009.3_Silent_p.V498V	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	498	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTATCTCCAGGACTTTGGTGT	0.577000													70	157					0	0	0.003610	0	0
COL27A1	85301	broad.mit.edu	37	9	117062944	117062944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:117062944C>T	ENST00000356083.3	+	51	5069	c.4678C>T	c.(4678-4680)Cct>Tct	p.P1560S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1560	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATCCAGGGCCCTCGGGGGCC	0.622000													6	12					0	0	0.003080	0	0
GRK7	131890	broad.mit.edu	37	3	141497610	141497610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:141497610C>T	ENST00000264952.2	+	1	621	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	162	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAGAGCAGCCCTTTAAGGA	0.552000													20	55					0	0	0.002780	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923992	25923992	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:25923992G>A	ENST00000377850.3	-	3	695	c.171C>T	c.(169-171)gcC>gcT	p.A57A	SLC17A2_ENST00000360488.3_Silent_p.A57A|SLC17A2_ENST00000265425.3_Silent_p.A57A			O00624	NPT3_HUMAN	solute carrier family 17, member 2	57					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGTGGAGGCATTAGATA	0.458000													30	180					0	0	0.002445	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751116	139751116	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139751116C>T	ENST00000230993.6	+	19	2684	c.2649C>T	c.(2647-2649)acC>acT	p.T883T	SLC4A9_ENST00000507527.1_Silent_p.T883T|SLC4A9_ENST00000506757.2_Silent_p.T859T|SLC4A9_ENST00000506545.1_Silent_p.T796T|SLC4A9_ENST00000432095.2_Silent_p.T845T|CTC-329D1.2_ENST00000507521.1_RNA	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	883	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCTGACCAGGGTCCACC	0.532000													30	157					0	0	0.003271	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347257	140347257	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140347257C>T	ENST00000289269.5	+	1	1438	c.906C>T	c.(904-906)gaC>gaT	p.D302D	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		302	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGTCGGACCGGGAGAGGC	0.572000													5	24					0	0	0.001168	0	0
CACNA1F	778	broad.mit.edu	37	X	49071988	49071988	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:49071988G>A	ENST00000376265.2	-	28	3346	c.3285C>T	c.(3283-3285)gcC>gcT	p.A1095A	CACNA1F_ENST00000323022.5_Silent_p.A1084A|CACNA1F_ENST00000376251.1_Silent_p.A1030A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1095	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGCATCGATGGCCTTGTATA	0.527000													9	2					0	0	0.000673	0	0
COL15A1	1306	broad.mit.edu	37	9	101810096	101810096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:101810096G>A	ENST00000375001.3	+	27	3131	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	903	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGACATAAAGGAGAATTTGGC	0.542000													37	80					0	0	0.007835	0	0
SPNS1	83985	broad.mit.edu	37	16	28993231	28993231	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:28993231C>T	ENST00000311008.11	+	7	1196	c.819C>T	c.(817-819)ttC>ttT	p.F273F	SPNS1_ENST00000352260.7_Intron|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000565975.1_Silent_p.F318F|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Silent_p.F200F	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	273					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTAGTTTCGTCCTGTCTT	0.597000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	25					0	0	0.007835	0	0
HOXB6	3216	broad.mit.edu	37	17	46673838	46673838	+	Silent	SNP	C	C	T	rs141275290	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46673838C>T	ENST00000484302.2	-	3	1234	c.612G>A	c.(610-612)gaG>gaA	p.E204E	HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Silent_p.E204E|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA			P17509	HXB6_HUMAN	homeobox B6	204					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCAGTTTGCTCTCCTTTTTCC	0.602000													89	115					0	0	0.003610	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625680	140625680	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140625680C>T	ENST00000231173.3	+	1	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		178	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCATTTCCATGTTTCCA	0.507000													7	29					0	0	0.001984	0	0
MED16	10025	broad.mit.edu	37	19	868157	868157	+	Missense_Mutation	SNP	G	G	A	rs142254775		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:868157G>A	ENST00000325464.1	-	16	2728	c.2578C>T	c.(2578-2580)Cac>Tac	p.H860Y	MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Missense_Mutation_p.H860Y|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000395808.3_3'UTR	NM_005481.2	NP_005472.2	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	860					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGAGAGTGGTGTGTGGAC	0.687000													9	9					0	0	0.004482	0	0
IL32	9235	broad.mit.edu	37	16	3119012	3119012	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:3119012A>T	ENST00000525643.2	+	7	555	c.223A>T	c.(223-225)Aaa>Taa	p.K75*	IL32_ENST00000549213.1_Nonsense_Mutation_p.K75*|IL32_ENST00000548476.1_Nonsense_Mutation_p.K121*|IL32_ENST00000548246.1_Nonsense_Mutation_p.K35*|IL32_ENST00000534507.1_Nonsense_Mutation_p.K121*|IL32_ENST00000533097.2_Nonsense_Mutation_p.K75*|IL32_ENST00000440815.3_Nonsense_Mutation_p.K75*|IL32_ENST00000526464.2_Nonsense_Mutation_p.K75*|IL32_ENST00000531965.1_Nonsense_Mutation_p.K65*|IL32_ENST00000530890.1_Nonsense_Mutation_p.K55*|IL32_ENST00000530538.2_Nonsense_Mutation_p.K75*|IL32_ENST00000396887.3_Nonsense_Mutation_p.K75*|IL32_ENST00000528163.2_Nonsense_Mutation_p.K75*|IL32_ENST00000529550.1_Nonsense_Mutation_p.K75*|IL32_ENST00000548652.1_Nonsense_Mutation_p.K66*|IL32_ENST00000008180.9_Nonsense_Mutation_p.K55*|IL32_ENST00000444393.3_Nonsense_Mutation_p.K75*|IL32_ENST00000396890.2_Nonsense_Mutation_p.K121*|IL32_ENST00000325568.5_Nonsense_Mutation_p.K75*|IL32_ENST00000382213.3_Nonsense_Mutation_p.K66*|IL32_ENST00000552936.1_Nonsense_Mutation_p.K99*|IL32_ENST00000529699.1_Nonsense_Mutation_p.K55*|IL32_ENST00000552664.1_Nonsense_Mutation_p.K75*|IL32_ENST00000552356.1_Nonsense_Mutation_p.K55*|IL32_ENST00000551513.1_Nonsense_Mutation_p.K112*|IL32_ENST00000551122.1_Nonsense_Mutation_p.K75*			P24001	IL32_HUMAN	interleukin 32	121					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCTACTTGAAAAAGAAAGAGA	0.587000													6	15					0	0	0.001855	0	0
CLTA	1211	broad.mit.edu	37	9	36198988	36198988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:36198988C>T	ENST00000433436.2	+	3	469	c.268C>T	c.(268-270)Cca>Tca	p.P90S	CLTA_ENST00000345519.5_Missense_Mutation_p.P90S|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000538225.1_Missense_Mutation_p.P90S|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000396603.2_Missense_Mutation_p.P90S|CLTA_ENST00000470744.1_Missense_Mutation_p.P90S|CLTA_ENST00000242285.6_Missense_Mutation_p.P90S	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	90					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			AAGTAATGGTCCAACAGACAG	0.398000													23	36					0	0	0.002299	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					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)			TTTGATAGGCGATTTGTACTT	0.433000										HNSCC(38;0.096)			53	148					0	0	0.003610	0	0
LILRA2	11027	broad.mit.edu	37	19	55086467	55086467	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55086467C>T	ENST00000251377.3	+	5	755	c.622C>T	c.(622-624)Cta>Tta	p.L208L	LILRA2_ENST00000251376.3_Silent_p.L208L|LILRA2_ENST00000391737.1_Silent_p.L196L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L208L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGTGTGGTCTCTACCCAGTGA	0.582000													92	60					0	0	0.003610	0	0
MACROD1	28992	broad.mit.edu	37	11	63918757	63918757	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:63918757G>A	ENST00000255681.6	-	3	537	c.471C>T	c.(469-471)ctC>ctT	p.L157L	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	157	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTCGCTGCGGAGCAGGGAGA	0.597000													13	34					0	0	0.001368	0	0
COL4A4	1286	broad.mit.edu	37	2	227954607	227954607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:227954607C>T	ENST00000396625.3	-	21	1643	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G479E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	479	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGGCCTCTTCCTCCTGGGGG	0.478000													12	13					0	0	0.001368	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													10	86					0	0	0.000673	0	0
POF1B	79983	broad.mit.edu	37	X	84569509	84569509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:84569509C>T	ENST00000262753.4	-	9	1031	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	POF1B_ENST00000373145.3_Missense_Mutation_p.E296K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	296			E -> A (in dbSNP:rs363751).				actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCAATGTCTTCCGACTGTAAG	0.368000													16	0					0	0	0.006122	0	0
CTNND2	1501	broad.mit.edu	37	5	11732286	11732286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:11732286C>T	ENST00000304623.8	-	2	325	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CTNND2_ENST00000359640.2_Missense_Mutation_p.E46K|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	46					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGGTGGTTTCTGTTTCAGAG	0.478000													54	34					0	0	0.003610	0	0
OR8J1	219477	broad.mit.edu	37	11	56128572	56128572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56128572C>T	ENST00000303039.3	+	1	882	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTGGTAATTCCTATGCTGAA	0.393000													12	49					0	0	0.001855	0	0
OR6C2	341416	broad.mit.edu	37	12	55846726	55846726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55846726G>A	ENST00000322678.1	+	1	729	c.729G>A	c.(727-729)atG>atA	p.M243I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CATCCCACATGATTGTGGTTT	0.403000													29	278					0	0	0.007291	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:186544548C>T	ENST00000431808.1	-	14	2586	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	SORBS2_ENST00000418609.1_Missense_Mutation_p.E579K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E775K|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E675K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	675						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000													29	89					0	0	0.002096	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029956	95029956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:95029956C>T	ENST00000557004.1	+	2	558	c.137C>T	c.(136-138)tCc>tTc	p.S46F	SERPINA4_ENST00000298841.5_Missense_Mutation_p.S46F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S46F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	46					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGTGAGGGCTCCCCCAGCCTC	0.567000													18	32					0	0	0.007413	0	0
GPR176	11245	broad.mit.edu	37	15	40093615	40093615	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:40093615G>A	ENST00000299092.3	-	4	1461	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	GPR176_ENST00000561100.1_Silent_p.A422A|GPR176_ENST00000543580.1_Silent_p.A377A	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	422					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCAGGGGTGGGGCAGAGGGCG	0.572000													43	93					0	0	0.001951	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198441	91198441	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91198441C>T	ENST00000341233.4	-	6	1248	c.858G>A	c.(856-858)caG>caA	p.Q286Q	SLC16A12_ENST00000371790.4_Silent_p.Q316Q	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	286						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAGCAGCTTGCTGATGACTCA	0.433000													18	39					0	0	0.007413	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433746	22433746	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22433746C>T	ENST00000390442.3	+	0	67																											ATGATGAAATCCTTGAGAGTT	0.348000													15	74					0	0	0.006122	0	0
ZNF106	64397	broad.mit.edu	37	15	42742972	42742972	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42742972T>C	ENST00000263805.4	-	2	1755	c.1429A>G	c.(1429-1431)Aaa>Gaa	p.K477E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		AAATTTGTTTTGGTGTTTTTT	0.398000													83	88					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11786988	11786988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11786988C>T	ENST00000262442.3	+	56	10960	c.10892C>T	c.(10891-10893)tCt>tTt	p.S3631F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3631F|DNAH9_ENST00000396001.2_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3631	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCTCCGCCTCTGGGAACTTC	0.483000													44	46					0	0	0.002852	0	0
PRKCE	5581	broad.mit.edu	37	2	46411916	46411916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46411916C>T	ENST00000306156.3	+	15	2437	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	704	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGACTTTACCCGGGAAGAGCC	0.488000													23	55					0	0	0.001882	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773436	145773436	+	Missense_Mutation	SNP	G	G	A	rs151220486		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145773436G>A	ENST00000276826.5	-	4	1235	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P345L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P345L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	345	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGACCGCTGGGGAGAGCCGGC	0.692000													8	16					0	0	0.004482	0	0
HOXC5	3222	broad.mit.edu	37	12	54427054	54427054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:54427054C>T	ENST00000312492.2	+	1	418	c.148C>T	c.(148-150)Cca>Tca	p.P50S	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	50					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CATCACTTTCCCACCGCCTGC	0.642000													21	7					0	0	0.001882	0	0
CTCF	10664	broad.mit.edu	37	16	67670719	67670719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67670719C>T	ENST00000264010.4	+	11	2408	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	CTCF_ENST00000401394.1_Missense_Mutation_p.P327L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	655					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGAGGACGACCCCCTGGCAGA	0.602000													39	123					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32049952	32049952	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32049952C>T	ENST00000375244.3	-	9	3798	c.3597G>A	c.(3595-3597)cgG>cgA	p.R1199R	TNXB_ENST00000375247.2_Silent_p.R1199R			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGGGGCCGTCCATCCC	0.562000													72	474					0	0	0.003610	0	0
FBN1	2200	broad.mit.edu	37	15	48786449	48786449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48786449G>A	ENST00000316623.5	-	23	3135	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	894	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCACATATGGGATCTGTAATA	0.308000													15	43					0	0	0.004007	0	0
DOCK3	1795	broad.mit.edu	37	3	51297686	51297686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:51297686G>A	ENST00000266037.9	+	23	2307	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	762						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)		CAGTATCCAAGAACTTTTCCA	0.478000													10	23					0	0	0.001368	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457899	45457899	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:45457899G>A	ENST00000548424.1	+	0	448																											CAGATAGCATGGATATCATCC	0.433000													18	66					0	0	0.007413	0	0
ZNF786	136051	broad.mit.edu	37	7	148769427	148769427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148769427G>A	ENST00000316286.9	-	3	451	c.179C>T	c.(178-180)gCc>gTc	p.A60V	ZNF786_ENST00000491431.1_Missense_Mutation_p.A146V|ZNF786_ENST00000451334.3_Missense_Mutation_p.A109V			Q8N393	ZN786_HUMAN	zinc finger protein 786	146	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A145G(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGAGCCCTGGCGTCGTGTCT	0.542000													34	6					0	0	0.004289	0	0
PDE8B	8622	broad.mit.edu	37	5	76646927	76646927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:76646927G>A	ENST00000264917.5	+	9	1100	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	PDE8B_ENST00000340978.3_Missense_Mutation_p.G305E|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332E|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352E|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGGAAATCCGGGGACAGCATC	0.502000													55	392					0	0	0.003610	0	0
FAM13C	220965	broad.mit.edu	37	10	61043174	61043174	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61043174G>T	ENST00000373867.3	-	7	757	c.292C>A	c.(292-294)Ccg>Acg	p.P98T	FAM13C_ENST00000373868.2_Missense_Mutation_p.P181T|FAM13C_ENST00000419214.2_Missense_Mutation_p.P181T|FAM13C_ENST00000435852.2_Missense_Mutation_p.P181T|FAM13C_ENST00000277705.6_Missense_Mutation_p.P202T|FAM13C_ENST00000468840.2_Missense_Mutation_p.P98T|FAM13C_ENST00000422313.2_Missense_Mutation_p.P181T|FAM13C_ENST00000442566.3_Missense_Mutation_p.P202T	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	181										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGGCGCCGGGTCCTTGACT	0.522000													93	75					5.62818e-54	9.20171e-54	0.003610	1	0
TPTE	7179	broad.mit.edu	37	21	10951384	10951384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10951384G>A	ENST00000298232.7	-	9	641	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	TPTE_ENST00000361285.4_Missense_Mutation_p.L110F|TPTE_ENST00000342420.5_Missense_Mutation_p.L72F|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	110					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)		AGGTCGGCAAGGATGAGAGTG	0.323000													27	68					0	0	0.002096	0	0
HTR4	3360	broad.mit.edu	37	5	147900490	147900490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:147900490G>A	ENST00000362016.2	-	6	707	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000360693.3_Intron			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	169					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATACCGCATGAAAATCCTGG	0.448000													34	43					0	0	0.006230	0	0
C1orf87	127795	broad.mit.edu	37	1	60499176	60499176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:60499176G>A	ENST00000371201.3	-	7	1108	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	334							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCAGAGAACGAGCGATCTTC	0.428000													15	35					0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599586	136599586	+	Missense_Mutation	SNP	G	G	A	rs146404127		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136599586G>A	ENST00000531224.1	-	4	685	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R143C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R145C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R143C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R145C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R143C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	145	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGAACGAGAAGAGGAT	0.443000													40	213					0	0	0.006230	0	0
PCDH8	5100	broad.mit.edu	37	13	53418792	53418792	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:53418792C>A	ENST00000377942.3	-	3	3319	c.3116G>T	c.(3115-3117)gGg>gTg	p.G1039V	PCDH8_ENST00000338862.4_Missense_Mutation_p.G942V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1039					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGGGAGCCTCCCTGGACGGGG	0.582000													29	46					1.06647e-15	1.73595e-15	0.003755	1	0
TGM1	7051	broad.mit.edu	37	14	24724013	24724013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:24724013G>A	ENST00000206765.6	-	13	2068	c.1945C>T	c.(1945-1947)Cca>Tca	p.P649S	TGM1_ENST00000544573.1_Missense_Mutation_p.P207S	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	649					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TAGGCCACTGGCATGGTCACA	0.632000													22	20					0	0	0.001882	0	0
HHIPL2	79802	broad.mit.edu	37	1	222705434	222705434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:222705434C>T	ENST00000343410.6	-	6	1655	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	533					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTCTATCTTCCTGCAAAGCC	0.433000													428	230					0	0	0.003610	0	0
PI4KA	5297	broad.mit.edu	37	22	21081523	21081523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:21081523G>A	ENST00000255882.6	-	41	5022	c.4936C>T	c.(4936-4938)Cct>Tct	p.P1646S	PI4KA_ENST00000572273.1_Missense_Mutation_p.P1588S|PI4KA_ENST00000414196.3_Missense_Mutation_p.P398S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1588					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTCACCGGAGGGAAGGACCGC	0.662000													35	16					0	0	0.007835	0	0
MAEL	84944	broad.mit.edu	37	1	166973452	166973452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:166973452G>A	ENST00000367872.4	+	6	803	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.E156K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	187					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCAAATTTTGAACGTGGGCA	0.378000													38	90					0	0	0.002522	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086712	41086712	+	Silent	SNP	C	C	T	rs141174643		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41086712C>T	ENST00000291842.5	+	9	763	c.714C>T	c.(712-714)atC>atT	p.I238I	SHKBP1_ENST00000600733.1_Silent_p.I238I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	238						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGGCCCATCGAACGACTGG	0.627000													22	54					0	0	0.001523	0	0
ATG2A	23130	broad.mit.edu	37	11	64669578	64669578	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64669578G>A	ENST00000421419.2	-	29	4095	c.3981C>T	c.(3979-3981)ccC>ccT	p.P1327P	ATG2A_ENST00000377264.3_Silent_p.P1325P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1325							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGTGAAGGGGGTGGGGCCC	0.622000													21	73					0	0	0.002299	0	0
NEFM	4741	broad.mit.edu	37	8	24775312	24775312	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24775312G>A	ENST00000221166.5	+	3	2726	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.V272V|NEFM_ENST00000437366.2_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	648	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTCACCAGTGGAAGAGAAAG	0.507000													34	53					0	0	0.003271	0	0
HECW2	57520	broad.mit.edu	37	2	197183391	197183391	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:197183391C>T	ENST00000260983.2	-	9	2405	c.2223G>A	c.(2221-2223)ggG>ggA	p.G741G	HECW2_ENST00000409111.1_Silent_p.G385G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	741	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCCAGGCTCCCCCTCCGCT	0.672000													7	8					0	0	0.003080	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265623	22265623	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22265623G>A	ENST00000390430.2	+	0	165																											TGCTGGGGATGATTTTTGCCC	0.438000													7	12					0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38213432	38213432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38213432C>T	ENST00000379705.3	-	9	2941	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	TRPC4_ENST00000338947.5_Missense_Mutation_p.R522Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R695Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R695Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R695Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R522Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R630Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R700Q|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	695	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.R695Q(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCAGCAGCTCGCCTCTGAAA	0.308000													20	34					0	0	0.004656	0	0
ASTN1	460	broad.mit.edu	37	1	176905451	176905451	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176905451G>A	ENST00000367654.2	-	15	2470	c.2457C>T	c.(2455-2457)gtC>gtT	p.V819V	ASTN1_ENST00000367657.3_Silent_p.V811V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.V811V|ASTN1_ENST00000424564.2_Silent_p.V811V			O14525	ASTN1_HUMAN	astrotactin 1	819					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACAGACCGGACCTTCCAGT	0.507000													17	41					0	0	0.001216	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275540	73275540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73275540C>T	ENST00000320531.2	+	1	52	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	6						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGCCCTTCCTCCAGTCAGATC	0.617000													56	34					0	0	0.003610	0	0
IGFN1	91156	broad.mit.edu	37	1	201191883	201191883	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201191883C>T	ENST00000335211.4	+	20	10348	c.10218C>T	c.(10216-10218)ctC>ctT	p.L3406L	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Silent_p.L566L	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCAAGTTCCTCGTGGACTCCA	0.597000											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	15					0	0	0.003163	0	0
C9orf47	286223	broad.mit.edu	37	9	91606022	91606022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:91606022G>A	ENST00000375851.2	+	1	245	c.112G>A	c.(112-114)Gac>Aac	p.D38N	C9orf47_ENST00000334490.5_Missense_Mutation_p.D38N|C9orf47_ENST00000375850.3_Missense_Mutation_p.D38N	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	38						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCAGACCTCGGACCTGGTTCC	0.602000													5	8					0	0	0.001168	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208611	23208611	+	Missense_Mutation	SNP	G	G	A	rs147199706		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:23208611G>A	ENST00000300061.2	+	6	1083	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	314					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTACATAAACGAAGAGGAATA	0.493000													12	37					0	0	0.002450	0	0
TAF5L	27097	broad.mit.edu	37	1	229750146	229750146	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:229750146G>A	ENST00000366675.3	-	2	172	c.84C>T	c.(82-84)ccC>ccT	p.P28P	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Silent_p.P28P|TAF5L_ENST00000366676.1_Silent_p.P28P|TAF5L_ENST00000366674.1_Silent_p.P28P	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	28					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGCTTCAGGGGACCATCTG	0.582000													14	57					0	0	0.003163	0	0
PLD1	5337	broad.mit.edu	37	3	171452666	171452666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:171452666G>A	ENST00000356327.5	-	5	599	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	PLD1_ENST00000340989.4_Missense_Mutation_p.L177F|PLD1_ENST00000351298.4_Missense_Mutation_p.L177F|PLD1_ENST00000342215.6_Missense_Mutation_p.L177F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	177	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTCTACCAAGGAATTGTTCT	0.438000													27	92					0	0	0.005443	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854892	21854892	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21854892G>A	ENST00000415645.2	-	4	399	c.360C>T	c.(358-360)tcC>tcT	p.S120S	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.S120S|NPIPB4_ENST00000451409.1_5'UTR					nuclear pore complex interacting protein family, member B4																		GCATACAAATGGACCTCAGCC	0.428000													23	139					0	0	0.002780	0	0
PDCD11	22984	broad.mit.edu	37	10	105184908	105184908	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105184908C>T	ENST00000369797.3	+	20	3025	c.2931C>T	c.(2929-2931)tcC>tcT	p.S977S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	977					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)		AGGGTGTCTCCCTAACCCTCA	0.587000													18	31					0	0	0.006122	0	0
GPR125	166647	broad.mit.edu	37	4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468000													7	226					0.000157383	0.000253028	0.003080	1	0
WDR62	284403	broad.mit.edu	37	19	36591691	36591691	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:36591691C>T	ENST00000401500.2	+	23	2816	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	WDR62_ENST00000270301.7_Silent_p.F927F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	927					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCCTCCTTCCTGCCCCAGC	0.602000													22	77					0	0	0.002299	0	0
ANXA1	301	broad.mit.edu	37	9	75775776	75775776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:75775776G>A	ENST00000376911.1	+	5	1324	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	ANXA1_ENST00000257497.6_Missense_Mutation_p.E148K			P04083	ANXA1_HUMAN	annexin A1	148					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACTAACAAAGAAATCAGAGA	0.328000													61	94					0	0	0.003610	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166022	161166022	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:161166022C>T	ENST00000367996.4	-	3	1457	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	343	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCACAGCTCCGAGCCGGGT	0.557000													12	57					0	0	0.001368	0	0
MED1	5469	broad.mit.edu	37	17	37583963	37583963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:37583963C>T	ENST00000300651.6	-	10	953	c.730G>A	c.(730-732)Gag>Aag	p.E244K	MED1_ENST00000394287.3_Missense_Mutation_p.E244K	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	244	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATTATTCTCATGCAAAATG	0.353000										HNSCC(31;0.082)			18	25					0	0	0.002780	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833815	160833815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:160833815C>T	ENST00000283243.7	-	15	2587	c.2381G>A	c.(2380-2382)tGg>tAg	p.W794*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W794*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	794	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTGCATATCCATTCACGTTT	0.343000													6	27					0	0	0.001984	0	0
OR6C74	254783	broad.mit.edu	37	12	55641396	55641396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55641396G>T	ENST00000343870.4	+	1	415	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GGGGGCAACTGAATTTTTTCT	0.453000													41	461					5.20006e-24	8.48096e-24	0.002852	1	0
TPM2	7169	broad.mit.edu	37	9	35689740	35689740	+	Silent	SNP	G	G	C	rs138151922		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35689740G>C	ENST00000378292.3	-	1	1277	c.75C>G	c.(73-75)gcC>gcG	p.A25A	TPM2_ENST00000378300.5_Silent_p.A25A|TPM2_ENST00000360958.2_Silent_p.A25A|TPM2_ENST00000329305.2_Silent_p.A25A	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	25					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCGGCTTCGGCCTGCTCGG	0.677000													61	82					0	0	0.003610	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756216	145756216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145756216G>A	ENST00000276826.5	-	9	3128	c.2927C>T	c.(2926-2928)cCc>cTc	p.P976L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P976L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P1007L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	976	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGGGATCAGGGGCTCCTCCAG	0.706000													11	9					0	0	0.001368	0	0
NETO1	81832	broad.mit.edu	37	18	70417313	70417313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70417313C>T	ENST00000327305.6	-	9	2182	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	NETO1_ENST00000299430.2_Missense_Mutation_p.D508N|NETO1_ENST00000583169.1_Missense_Mutation_p.D509N	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	509					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.D509N(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACGGCTTTATCGTGTCTGGAC	0.438000													26	16					0	0	0.002096	0	0
CUL4B	8450	broad.mit.edu	37	X	119680416	119680416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:119680416G>A	ENST00000371322.5	-	4	893	c.832C>T	c.(832-834)Cat>Tat	p.H278Y	CUL4B_ENST00000404115.3_Missense_Mutation_p.H296Y|CUL4B_ENST00000336592.6_Missense_Mutation_p.H283Y	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	296					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTCTGCAATGGTTTTGCCAG	0.303000													17	20					0	0	0.001216	0	0
DPP6	1804	broad.mit.edu	37	7	154684121	154684121	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:154684121C>T	ENST00000404039.1	+	26	2924	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	DPP6_ENST00000332007.3_Silent_p.F781F|DPP6_ENST00000427557.1_Silent_p.F736F|DPP6_ENST00000377770.3_Silent_p.F843F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	843					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCAACTTCTTCGTGGAATGCT	0.512000													49	110					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117149196	117149196	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:117149196G>A	ENST00000003084.6	+	3	405	c.273_splice	c.e3+1	p.G91_splice	CFTR_ENST00000454343.1_Splice_Site_p.G91_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	91	ABC transmembrane type-1 1.		G -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATATTTAGGGGTAAGGATCT	0.308000									Cystic Fibrosis				14	119					0	0	0.001855	0	0
SMPD3	55512	broad.mit.edu	37	16	68404844	68404844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68404844G>A	ENST00000219334.5	-	3	1844	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	SMPD3_ENST00000568373.1_Missense_Mutation_p.P414L|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.P414L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	414					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.P414L(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTCCATGATGGGGTAGCGGCT	0.577000													9	16					0	0	0.004482	0	0
ASH2L	9070	broad.mit.edu	37	8	37967969	37967969	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:37967969C>T	ENST00000343823.6	+	4	783	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ASH2L_ENST00000250635.7_Silent_p.F64F|ASH2L_ENST00000428278.2_Silent_p.F64F|ASH2L_ENST00000521652.1_Silent_p.F64F|ASH2L_ENST00000545394.1_Silent_p.F19F	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	158					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATACCTATTTCCTCCGGAAGC	0.428000													31	7					0	0	0.002836	0	0
MYH1	4619	broad.mit.edu	37	17	10411710	10411710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10411710G>A	ENST00000226207.5	-	16	1961	c.1867C>T	c.(1867-1869)Ctc>Ttc	p.L623F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	623	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAACAAAGAGGAGAGCCAGA	0.473000													47	36					0	0	0.003610	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717322	222717322	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:222717322C>T	ENST00000343410.6	-	2	589	c.531G>A	c.(529-531)aaG>aaA	p.K177K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	177					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGCAATAGTCCTTGTCAGGAA	0.597000													331	152					0	0	0.003610	0	0
GRID1	2894	broad.mit.edu	37	10	87489366	87489366	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:87489366C>T	ENST00000327946.7	-	9	1324	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	GRID1_ENST00000536331.1_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	413						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGTCCCATGTCGCCAACTGTG	0.532000										Multiple Myeloma(13;0.14)			19	31					0	0	0.001523	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:107095556T>C	ENST00000390630.2	-	0	106																											ACCACAGGTGTTTCATGTTCT	0.532000													3	26					0	0	0.000602	0	0
DDX4	54514	broad.mit.edu	37	5	55034816	55034816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:55034816G>A	ENST00000505374.1	+	2	117	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.E9K|DDX4_ENST00000354991.5_Missense_Mutation_p.E9K|DDX4_ENST00000353507.5_Missense_Mutation_p.E9K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	9					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGGAAGCAGAAATCAACCC	0.303000													79	30					0	0	0.003610	0	0
KLF17	128209	broad.mit.edu	37	1	44596314	44596314	+	Silent	SNP	C	C	T	rs139118447	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44596314C>T	ENST00000372299.3	+	3	1114	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	352					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCCGGGAGTTCATGAGGTCTG	0.512000													20	31					0	0	0.007413	0	0
TMEM145	284339	broad.mit.edu	37	19	42821907	42821907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42821907G>A	ENST00000598766.1	+	12	1019	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	TMEM145_ENST00000301204.3_Missense_Mutation_p.G316D			Q8NBT3	TM145_HUMAN	transmembrane protein 145	316						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCGCCGGCCGGCTACGGGCTC	0.577000													33	31					0	0	0.002096	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142941	31142941	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31142941G>A	ENST00000304166.4	+	14	1426	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	ADCYAP1R1_ENST00000396211.2_Silent_p.R407R|ADCYAP1R1_ENST00000409489.1_Silent_p.R435R|ADCYAP1R1_ENST00000409363.1_Silent_p.R358R	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	379					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAGCAAAAGGGAAAGACTCG	0.587000													16	120					0	0	0.003163	0	0
ZNF594	84622	broad.mit.edu	37	17	5085852	5085852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:5085852G>A	ENST00000399604.4	-	1	1840	c.1700C>T	c.(1699-1701)gCt>gTt	p.A567V	ZNF594_ENST00000575779.1_Missense_Mutation_p.A567V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACACCAATAAGCTTTCGCTTC	0.458000													75	52					0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21108411	21108411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:21108411G>A	ENST00000377122.4	-	20	2393	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	666					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGCTTACCGGAGTGGCCTT	0.443000													42	66					0	0	0.003610	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852459	31852459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31852459C>T	ENST00000390689.2	-	1	204	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCGTAGCCTCCAAAGCCAGAG	0.527000													70	115					0	0	0.003610	0	0
FBXL15	79176	broad.mit.edu	37	10	104181773	104181773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104181773C>T	ENST00000224862.3	+	3	1753	c.437C>T	c.(436-438)tCg>tTg	p.S146L	FBXL15_ENST00000369956.2_Missense_Mutation_p.S142L	NM_024326.3	NP_077302.3	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	146	Interaction with SMURF1.				bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CAGCGCCTGTCGCTCGCGCAC	0.731000													4	13					0	0	0.000248	0	0
PRTG	283659	broad.mit.edu	37	15	55933389	55933389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:55933389G>A	ENST00000389286.4	-	12	2106	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	687	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTCTCACATGATATTTTCTT	0.423000													14	52					0	0	0.004990	0	0
MROH2B	133558	broad.mit.edu	37	5	41005013	41005013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41005013C>T	ENST00000399564.4	-	36	4324	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGATTGGTTCCTTCATGAGC	0.493000													5	30					0	0	0.001168	0	0
CMYA5	202333	broad.mit.edu	37	5	79089293	79089293	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79089293C>T	ENST00000446378.2	+	12	11854	c.11823C>T	c.(11821-11823)tcC>tcT	p.S3941S	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3941	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTGCCTTCCTGTGGCCAGC	0.557000													68	27					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48581196	48581196	+	Silent	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48581196A>T	ENST00000537810.1	-	23	2926	c.2322T>A	c.(2320-2322)tcT>tcA	p.S774S	FRYL_ENST00000507711.1_Silent_p.S774S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.S774S|FRYL_ENST00000358350.4_Silent_p.S774S			O94915	FRYL_HUMAN	FRY-like	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGCTAATAGGAGAAGAGTTCC	0.378000													5	28					0	0	0.001984	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410252	79410252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79410252C>T	ENST00000307745.7	+	9	1877	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L																								CTGCCTGCGCCGCCGGACGAG	0.662000													4	27					0	0	0.000248	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732088	140732088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140732088C>T	ENST00000523390.1	+	1	2261	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTATTGCCTCTCATTCTGCA	0.517000													21	67					0	0	0.001523	0	0
ZNF362	149076	broad.mit.edu	37	1	33747277	33747277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:33747277C>T	ENST00000539719.1	+	6	943	c.773C>T	c.(772-774)cCg>cTg	p.P258L	ZNF362_ENST00000373428.5_Missense_Mutation_p.P258L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAAGTGCCCGCACTGCTCC	0.582000													42	57					0	0	0.002852	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34663234C>T	ENST00000488417.1	+	2	849	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_ENST00000373374.3_Silent_p.F53F	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000													16	24					0	0	0.006122	0	0
NPRL3	8131	broad.mit.edu	37	16	167369	167369	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:167369G>A	ENST00000399953.3	-	4	726	c.324C>T	c.(322-324)tcC>tcT	p.S108S	NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	108							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GATCTGTTTTGGAGATCTGTA	0.388000													4	9					0	0	0.000602	0	0
LIPE	3991	broad.mit.edu	37	19	42930782	42930782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42930782C>T	ENST00000244289.4	-	1	796	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	174					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GACGTAGATTCAGTCGGGGCA	0.557000													32	85					0	0	0.003271	0	0
TRHR	7201	broad.mit.edu	37	8	110100443	110100443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110100443G>A	ENST00000518632.1	+	2	1053	c.702G>A	c.(700-702)tgG>tgA	p.W234*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	234						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTAAGACATGGAAAAATGATT	0.378000													13	17					0	0	0.002450	0	0
MYC	4609	broad.mit.edu	37	8	128751083	128751083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:128751083C>T	ENST00000377970.2	+	2	1130	c.620C>T	c.(619-621)tCg>tTg	p.S207L	MYC_ENST00000524013.1_Missense_Mutation_p.S206L|MYC_ENST00000259523.6_Missense_Mutation_p.S192L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	192					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ATCGACCCCTCGGTGGTCTTC	0.667000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	30					0	0	0.007291	0	0
ZNF829	374899	broad.mit.edu	37	19	37406120	37406120	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:37406120G>A	ENST00000520965.1	-	2	259	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ZNF829_ENST00000391711.3_5'UTR	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCTGTCCAGGGTTGGAATC	0.507000													10	24					0	0	0.000673	0	0
ELF5	2001	broad.mit.edu	37	11	34502436	34502436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:34502436C>T	ENST00000312319.2	-	6	813	c.584G>A	c.(583-585)tGg>tAg	p.W195*	ELF5_ENST00000429939.2_Nonsense_Mutation_p.W90*|ELF5_ENST00000257832.2_Nonsense_Mutation_p.W185*	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	195					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCTATCTTCCCATTCCAGAAT	0.418000													45	13					0	0	0.002852	0	0
MICAL2	9645	broad.mit.edu	37	11	12265648	12265648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:12265648C>T	ENST00000256194.4	+	21	3061	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.P925S|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	925						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTCTGCTTCTCCTGCCAGAAA	0.498000													113	34					0	0	0.003610	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947249	45947249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45947249C>T	ENST00000323084.4	-	7	1140	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	TSPEAR_ENST00000397916.1_Missense_Mutation_p.E291K	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	359					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACGAACTTCTCTTCGGTCCAC	0.552000													17	101					0	0	0.001216	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429958	80429958	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:80429958C>T	ENST00000261749.6	+	7	1037	c.615C>T	c.(613-615)atC>atT	p.I205I	ZFAND6_ENST00000558087.1_Silent_p.I205I|ZFAND6_ENST00000559157.1_Silent_p.I193I|ZFAND6_ENST00000561060.1_Silent_p.I205I|ZFAND6_ENST00000559835.1_Silent_p.I205I|ZFAND6_ENST00000559775.1_Silent_p.I205I|ZFAND6_ENST00000558494.1_Silent_p.I205I	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	205							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GTGAAAAGATCCAAAAGATTT	0.358000													10	36					0	0	0.006214	0	0
NLRP12	91662	broad.mit.edu	37	19	54313422	54313422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54313422C>T	ENST00000324134.6	-	3	1659	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	NLRP12_ENST00000391772.1_Missense_Mutation_p.M497I|NLRP12_ENST00000354278.3_Missense_Mutation_p.M497I|NLRP12_ENST00000391775.3_Missense_Mutation_p.M497I|NLRP12_ENST00000351894.4_Missense_Mutation_p.M497I|NLRP12_ENST00000391773.1_Missense_Mutation_p.M497I|NLRP12_ENST00000345770.5_Missense_Mutation_p.M497I|NLRP12_ENST00000535162.1_Missense_Mutation_p.M497I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	497	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGAAGATGTTCATGTTGAGGA	0.502000													103	56					0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108476199	108476199	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:108476199G>A	ENST00000408999.3	+	12	1733	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	RGPD4_ENST00000354986.4_Silent_p.L552L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	552					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGCAAAATTGAGACTTTTAG	0.358000													31	91					0	0	0.001512	0	0
TROAP	10024	broad.mit.edu	37	12	49723655	49723655	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49723655C>A	ENST00000551245.1	+	12	1291	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	TROAP_ENST00000547923.1_Silent_p.R102R|TROAP_ENST00000257909.3_Silent_p.R394R			Q12815	TROAP_HUMAN	trophinin associated protein	394					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTTGCCGTCCGGTTGTTTGA	0.577000													8	327					0.000274275	0.000440745	0.004482	1	0
MAP3K9	4293	broad.mit.edu	37	14	71197228	71197228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:71197228G>A	ENST00000554752.2	-	12	3183	c.3184C>T	c.(3184-3186)Ccg>Tcg	p.P1062S	MAP3K9_ENST00000553414.1_Missense_Mutation_p.P795S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P1076S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P790S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P1039S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1062					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGCTCAGTCGGGGGCAGCGGC	0.662000													9	5					0	0	0.004482	0	0
KCNH3	23416	broad.mit.edu	37	12	49944054	49944054	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49944054C>T	ENST00000257981.6	+	10	2120	c.1860C>T	c.(1858-1860)taC>taT	p.Y620Y		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	620					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGCCCTCTACTTTGTCTGCT	0.672000													12	72					0	0	0.001855	0	0
LRPPRC	10128	broad.mit.edu	37	2	44201417	44201417	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:44201417A>T	ENST00000260665.7	-	9	1084	c.1027T>A	c.(1027-1029)Tta>Ata	p.L343I	LRPPRC_ENST00000409946.1_Missense_Mutation_p.L343I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.L343I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	343					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTAAAAGTAAAATGAGGTTC	0.358000													112	286					0	0	0.003610	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370593	60370593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:60370593G>A	ENST00000371204.3	-	7	1184	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	381					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ACTTCCCTGGGAACGTTCAGG	0.547000													21	35					0	0	0.003954	0	0
TRBV19	28568	broad.mit.edu	37	7	142327008	142327008	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142327008G>A	ENST00000390393.3	+	0	514																											CGGCCCAAAAGAACCCGACAG	0.493000													68	163					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41719712	41719712	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41719712G>A	ENST00000400454.1	-	6	1572	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	365	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCGTGGTTGATCCCTGTGA	0.512000													190	95					0	0	0.003610	0	0
OR10G7	390265	broad.mit.edu	37	11	123909189	123909189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:123909189G>A	ENST00000330487.5	-	1	528	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGTAGTGCTGGATCTGGTTG	0.557000													53	34					0	0	0.003610	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469513	25469513	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:25469513G>T	ENST00000264709.3	-	10	1592	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P419T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P230T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P196T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	419					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCTTAGGGCCAGAAGGC	0.622000			"""Mis, F, N, S"""		AML								12	44					4.36969e-10	7.08162e-10	0.001855	1	0
MORC2	22880	broad.mit.edu	37	22	31338233	31338233	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:31338233T>A	ENST00000215862.4	-	8	1629	c.266A>T	c.(265-267)aAt>aTt	p.N89I	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.N151I	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	151							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCCGAGCATTCCAGGTGGG	0.502000													162	26					0	0	0.003610	0	0
SNAP47	116841	broad.mit.edu	37	1	227968364	227968364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227968364G>A	ENST00000366759.4	+	5	1799	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	SNAP47_ENST00000366760.1_Missense_Mutation_p.R220K	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	462	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGGATGAAGAGGCTGACCTAG	0.617000													13	47					0	0	0.002450	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507873	233507873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233507873C>T	ENST00000366624.3	+	6	1903	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	MLK4_ENST00000366623.3_Missense_Mutation_p.P548S	NM_032435.2	NP_115811.2																					CCCGAGCAGCCCCACAATGAT	0.567000													15	71					0	0	0.002450	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627556	234627556	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234627556G>A	ENST00000373409.3	+	1	133	c.90G>A	c.(88-90)aaG>aaA	p.K30K	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AGAGTGGAAAGGTGTTGGTGG	0.667000													12	12					0	0	0.001855	0	0
EPHA7	2045	broad.mit.edu	37	6	93964399	93964399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:93964399C>T	ENST00000369303.4	-	14	2682	c.2498G>A	c.(2497-2499)gGa>gAa	p.G833E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	833	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGGTCTTTCTCCATAAGACAT	0.403000													22	8					0	0	0.001512	0	0
ABCB5	340273	broad.mit.edu	37	7	20793056	20793056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:20793056G>A	ENST00000404938.2	+	27	4155	c.3503G>A	c.(3502-3504)aGg>aAg	p.R1168K	ABCB5_ENST00000258738.6_Missense_Mutation_p.R723K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	723					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTATTGCAAGGGCTCTTCTC	0.408000													63	45					0	0	0.003610	0	0
NPM1	4869	broad.mit.edu	37	5	170818768	170818768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:170818768C>T	ENST00000296930.5	+	4	618	c.317C>T	c.(316-318)tCa>tTa	p.S106L	NPM1_ENST00000351986.6_Missense_Mutation_p.S106L|NPM1_ENST00000517671.1_Missense_Mutation_p.S106L|NPM1_ENST00000393820.2_Missense_Mutation_p.S106L	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	106	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.S106*(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTGTGGTTCAGGGCCAGTG	0.393000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								64	30					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76567725	76567725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76567725C>T	ENST00000389840.5	-	4	803	c.679G>A	c.(679-681)Gag>Aag	p.E227K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E227K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACTCGAACTCCACTTGGGGC	0.617000													25	47					0	0	0.001786	0	0
GATA2	2624	broad.mit.edu	37	3	128205212	128205212	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:128205212C>T	ENST00000341105.2	-	3	561		c.e3-1		GATA2_ENST00000487848.1_Splice_Site|GATA2_ENST00000430265.2_Splice_Site	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2						blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTCAGGCGGGCTGCGGGCAAA	0.642000			Mis		AML(CML blast transformation)								5	22					0	0	0.001168	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255975	15255975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15255975C>T	ENST00000378116.4	-	8	1618	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	538						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCATACATTCAGTGGGTCTG	0.552000													40	54					0	0	0.003610	0	0
MRPS25	64432	broad.mit.edu	37	3	15093987	15093987	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15093987C>T	ENST00000253686.2	-	4	623	c.483G>A	c.(481-483)ggG>ggA	p.G161G	MRPS25_ENST00000444840.2_3'UTR|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	161					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						CTTTGTACTTCCCCCTCATCT	0.602000													34	115					0	0	0.002836	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447216	10447216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:10447216G>A	ENST00000326756.3	-	3	1175	c.737C>T	c.(736-738)tCc>tTc	p.S246F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCGTGGATTGGAAGCTTTTAG	0.433000													54	78					0	0	0.003610	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809058	43809058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:43809058C>T	ENST00000291532.3	-	4	1257	c.302G>A	c.(301-303)gGg>gAg	p.G101E	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.G101E|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G99E|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G101E|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G185E	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	101	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTCGTCCTCCCCGTCTTTGCA	0.537000													6	46					0	0	0.003080	0	0
SCN4A	6329	broad.mit.edu	37	17	62034588	62034588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:62034588C>T	ENST00000435607.1	-	13	2386	c.2310G>A	c.(2308-2310)atG>atA	p.M770I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M770I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	770					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGGCCACCTCCATGCAGTCCC	0.607000													27	26					0	0	0.001786	0	0
COL3A1	1281	broad.mit.edu	37	2	189855743	189855743	+	Missense_Mutation	SNP	G	G	A	rs112185887	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:189855743G>A	ENST00000304636.3	+	11	982	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R271Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	271	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R271Q(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCGATGGACGAAATGGAGAA	0.279000													42	46					0	0	0.003610	0	0
ZAN	7455	broad.mit.edu	37	7	100350647	100350647	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100350647G>A	ENST00000542585.1	+	0	3067				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACTTA	0.542000													32	161					0	0	0.002096	0	0
NPAP1	23742	broad.mit.edu	37	15	24921510	24921510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:24921510C>T	ENST00000329468.2	+	1	970	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGATGAGGATCCGGTGCAGAT	0.632000													10	22					0	0	0.006214	0	0
WDR36	134430	broad.mit.edu	37	5	110459595	110459595	+	Silent	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:110459595A>T	ENST00000506538.2	+	20	2982	c.2409A>T	c.(2407-2409)gcA>gcT	p.A803A	WDR36_ENST00000513710.2_Silent_p.A803A	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	803					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GATATGCTGCACCTGAACAAA	0.368000													10	59					0	0	0.000673	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398091	77398091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:77398091C>T	ENST00000282849.5	-	5	1384	c.966G>A	c.(964-966)atG>atA	p.M322I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTACCATGTTCATTACTGTGA	0.453000													51	66					0	0	0.003610	0	0
NEXN	91624	broad.mit.edu	37	1	78383812	78383812	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:78383812A>G	ENST00000330010.8	+	4	406	c.109A>G	c.(109-111)Act>Gct	p.T37A	NEXN_ENST00000334785.7_Missense_Mutation_p.T101A|NEXN_ENST00000457030.1_Missense_Mutation_p.T101A|NEXN_ENST00000294624.8_Missense_Mutation_p.T101A	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	101					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTTTTAGGAACTGTGAAGGG	0.338000													18	24					0	0	0.007413	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601587	58601587	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58601587G>A	ENST00000240727.6	-	2	447	c.48C>T	c.(46-48)gcC>gcT	p.A16A	ZSCAN18_ENST00000600404.1_Silent_p.A72A|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Silent_p.A16A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GATCCGGCGGGGCTGGGGAGC	0.627000													14	60					0	0	0.006122	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518311	45518311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45518311C>T	ENST00000291574.4	+	21	3417	c.3242C>T	c.(3241-3243)tCc>tTc	p.S1081F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1081					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCCCTCTGCTCCCTGGAGGTT	0.468000													41	131					0	0	0.003610	0	0
ROR2	4920	broad.mit.edu	37	9	94495542	94495542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:94495542C>T	ENST00000375708.3	-	6	997	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E127K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672000													8	4					0	0	0.004482	0	0
TRAV35	28647	broad.mit.edu	37	14	22690332	22690332	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22690332C>T	ENST00000390462.1	+	0	291																											TCTCAGCATCCATACCTAGTG	0.468000													32	39					0	0	0.002096	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590527	140590527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140590527C>T	ENST00000239450.2	+	1	2237	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A346V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		683					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCCAGGCCGACTCGCTC	0.706000													96	61					0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57600321	57600321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57600321C>T	ENST00000243077.3	+	76	12122	c.11656C>T	c.(11656-11658)Ccc>Tcc	p.P3886S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3886					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCGGCCACCCCCATTCGGC	0.587000													17	61					0	0	0.004990	0	0
DIP2C	22982	broad.mit.edu	37	10	436680	436680	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:436680C>T	ENST00000280886.6	-	11	1471	c.1384_splice	c.e11+1	p.G462_splice	DIP2C_ENST00000381496.3_Splice_Site_p.G355_splice	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	462						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTGGCTTACCTTTAAACTGT	0.537000													32	14					0	0	0.006230	0	0
TAC3	6866	broad.mit.edu	37	12	57406177	57406177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57406177G>A	ENST00000458521.2	-	6	511	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	TAC3_ENST00000441881.1_Missense_Mutation_p.P100S|TAC3_ENST00000415231.1_Missense_Mutation_p.P118S	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	118					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TCTGCTCTCGGGGGATACTTG	0.527000													80	26					0	0	0.003610	0	0
DDX20	11218	broad.mit.edu	37	1	112303708	112303708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:112303708C>T	ENST00000369702.4	+	6	1543	c.923C>T	c.(922-924)cCa>cTa	p.P308L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	308	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGAATTCCATTTAATCAA	0.368000													12	30					0	0	0.001368	0	0
FCGBP	8857	broad.mit.edu	37	19	40368657	40368657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:40368657G>A	ENST00000221347.6	-	28	12698	c.12691C>T	c.(12691-12693)Cct>Tct	p.P4231S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4231	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGCCATTAGGGAAGACCTGG	0.642000													44	128					0	0	0.003610	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256024	15256024	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:15256024G>A	ENST00000378116.4	-	8	1569	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	521						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATGAAGGCGCGGGGTACAGAT	0.522000													30	70					0	0	0.002445	0	0
DUSP22	56940	broad.mit.edu	37	6	348772	348772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:348772C>T	ENST00000604971.1	+	4	1243	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	DUSP22_ENST00000605315.1_Missense_Mutation_p.R44W|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.R44W|DUSP22_ENST00000344450.5_Missense_Mutation_p.R147W|DUSP22_ENST00000419235.2_Missense_Mutation_p.R147W			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTCCAGTATCGGCAGTGGCT	0.517000													38	106					0	0	0.002852	0	0
XIRP2	129446	broad.mit.edu	37	2	168099639	168099639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:168099639G>A	ENST00000409195.1	+	9	1826	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.W357*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.W579*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	404					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCATTAGATGGATCTTTGAGA	0.408000													12	11					0	0	0.001368	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590524	137590524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:137590524G>A	ENST00000330387.6	-	6	1190	c.839C>T	c.(838-840)cCc>cTc	p.P280L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P280L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	280					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGTGGGGATGGGATAGCCCTC	0.517000			T	FUS	fibromyxoid sarcoma								70	201					0	0	0.003610	0	0
ABI2	10152	broad.mit.edu	37	2	204231653	204231653	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:204231653C>T	ENST00000295851.4	+	2	467	c.171C>T	c.(169-171)tcC>tcT	p.S57S	ABI2_ENST00000261016.6_5'UTR|ABI2_ENST00000422511.2_Silent_p.S57S|ABI2_ENST00000430418.1_Silent_p.S57S|ABI2_ENST00000424558.1_Silent_p.S57S|ABI2_ENST00000261017.5_Silent_p.S57S			Q9NYB9	ABI2_HUMAN	abl-interactor 2	57	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCACCCAATCCTTAGCAAGTG	0.433000													11	13					0	0	0.000978	0	0
DLX3	1747	broad.mit.edu	37	17	48072125	48072125	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:48072125A>T	ENST00000434704.2	-	1	463	c.238T>A	c.(238-240)Tac>Aac	p.Y80N		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TTGGGCGAGTAAGCGCCCGTG	0.622000													40	50					0	0	0.006230	0	0
DLG2	1740	broad.mit.edu	37	11	83183773	83183773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:83183773C>T	ENST00000398309.2	-	18	2496	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	DLG2_ENST00000418306.2_Missense_Mutation_p.E555K|DLG2_ENST00000404783.3_Missense_Mutation_p.E154K|DLG2_ENST00000376104.2_Missense_Mutation_p.E781K|DLG2_ENST00000543673.1_Missense_Mutation_p.E781K|DLG2_ENST00000426717.2_Missense_Mutation_p.E140K|DLG2_ENST00000531015.1_Missense_Mutation_p.E643K|DLG2_ENST00000376106.3_Missense_Mutation_p.E140K|DLG2_ENST00000537455.1_Missense_Mutation_p.E426K|DLG2_ENST00000330014.6_Missense_Mutation_p.E597K|DLG2_ENST00000532653.1_Missense_Mutation_p.E658K|DLG2_ENST00000280241.8_Missense_Mutation_p.E715K|DLG2_ENST00000524982.1_Missense_Mutation_p.E672K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	676						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACTTACTTTCCTGCCTTGTA	0.418000													22	61					0	0	0.002780	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343724	134343724	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:134343724C>A	ENST00000282611.6	+	4	656	c.570C>A	c.(568-570)atC>atA	p.I190I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	190					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATGTACATCTTCGCTATCT	0.557000													28	42					1.06801e-11	1.7338e-11	0.001786	1	0
SEPT12	124404	broad.mit.edu	37	16	4833664	4833664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:4833664C>T	ENST00000268231.8	-	6	879	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SEPT12_ENST00000396693.5_Missense_Mutation_p.A160T	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	206					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGCCTGAAGGCCTCTCGCTCC	0.677000													22	29					0	0	0.003954	0	0
TAOK1	57551	broad.mit.edu	37	17	27844552	27844552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27844552C>T	ENST00000261716.3	+	16	2305	c.1786C>T	c.(1786-1788)Caa>Taa	p.Q596*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	596					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGCATTTCCAAGCAGAAGA	0.413000													32	116					0	0	0.004289	0	0
PKP2	5318	broad.mit.edu	37	12	32974422	32974422	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32974422G>A	ENST00000340811.4	-	9	1989	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	PKP2_ENST00000070846.6_Silent_p.P671P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	671					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCACGCCCTTGGGGTTGCTCT	0.478000													33	41					0	0	0.002836	0	0
TERF2	7014	broad.mit.edu	37	16	69404472	69404472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69404472G>A	ENST00000254942.3	-	5	770	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Nonsense_Mutation_p.Q252*|TERF2_ENST00000603068.1_Nonsense_Mutation_p.Q210*	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	210					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GAAAAGTTCTGGATAACAGGA	0.488000													18	40					0	0	0.002299	0	0
CHRM1	1128	broad.mit.edu	37	11	62677552	62677552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62677552G>A	ENST00000306960.3	-	2	1562	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	341					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CGGGGCTTCTGGCCCTTGCCA	0.637000													25	17					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141128357	141128357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141128357G>A	ENST00000389484.3	-	71	11901	c.10930C>T	c.(10930-10932)Cac>Tac	p.H3644Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3644	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATACAGTGGGCTTTATTT	0.388000										TSP Lung(27;0.18)			63	48					0	0	0.003610	0	0
PAK4	10298	broad.mit.edu	37	19	39660353	39660353	+	Missense_Mutation	SNP	G	G	T	rs148292608		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39660353G>T	ENST00000599386.1	+	3	341	c.160G>T	c.(160-162)Gtc>Ttc	p.V54F	PAK4_ENST00000360442.3_Missense_Mutation_p.V54F|PAK4_ENST00000358301.3_Missense_Mutation_p.V54F|PAK4_ENST00000435673.2_Missense_Mutation_p.V54F|PAK4_ENST00000599470.1_Missense_Mutation_p.V54F|PAK4_ENST00000593690.1_Missense_Mutation_p.V54F|PAK4_ENST00000321944.4_Missense_Mutation_p.V54F	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	54	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CAAGCCCCTCGTCGACCCCGC	0.711000													13	15					1.5739e-10	2.55256e-10	0.004007	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47648699	47648699	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47648699A>T	ENST00000371917.4	+	38	5177	c.5177A>T	c.(5176-5178)gAa>gTa	p.E1726V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1726					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATAAATGATGAAAAGGTATGA	0.383000													38	76					0	0	0.006230	0	0
HCRTR1	3061	broad.mit.edu	37	1	32086542	32086542	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32086542G>A	ENST00000403528.2	+	5	862	c.477G>A	c.(475-477)cgG>cgA	p.R159R	HCRTR1_ENST00000373706.5_Silent_p.R159R|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.R159R	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	159					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCACAGCCCGGCGGGCCCGTG	0.617000													15	23					0	0	0.003163	0	0
ST18	9705	broad.mit.edu	37	8	53079532	53079532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:53079532C>T	ENST00000276480.7	-	11	1767	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E362K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCCTCTTTTCAGGCCTTGGT	0.512000													44	93					0	0	0.003610	0	0
NUMA1	4926	broad.mit.edu	37	11	71724483	71724483	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:71724483G>A	ENST00000393695.3	-	15	4397	c.4066C>T	c.(4066-4068)Ctg>Ttg	p.L1356L	NUMA1_ENST00000358965.6_Silent_p.L1356L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1356					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCACTCACCAGGGCCTGTGTG	0.632000			T	RARA	APL								12	25					0	0	0.000978	0	0
UBR5	51366	broad.mit.edu	37	8	103306290	103306290	+	Silent	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:103306290T>A	ENST00000520539.1	-	33	4848	c.4242A>T	c.(4240-4242)acA>acT	p.T1414T	UBR5_ENST00000220959.4_Silent_p.T1414T|UBR5_ENST00000521922.1_Silent_p.T1408T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1414					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACGTCCAGGTGTATATTTGT	0.338000													27	37					0	0	0.006320	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461529	91461529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:91461529C>T	ENST00000360468.3	+	20	3118	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1034S|MAN2A2_ENST00000430376.2_Missense_Mutation_p.P224S|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P542S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1034					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGCAGCTCCCAGGCCCTGG	0.612000													377	479					0	0	0.003610	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787233	122787233	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:122787233G>A	ENST00000194130.2	-	7	831	c.792C>T	c.(790-792)atC>atT	p.I264I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	264						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTCTGCAAAGATCAAGTTGG	0.388000													39	3					0	0	0.002222	0	0
SAA2	6289	broad.mit.edu	37	11	18266935	18266935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18266935C>T	ENST00000526900.1	-	4	541	c.358G>A	c.(358-360)Gag>Aag	p.E120K	SAA2_ENST00000529528.1_Missense_Mutation_p.E120K|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.E120K					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CAGTATTTCTCAGGCAGGCCA	0.582000													32	9					0	0	0.006999	0	0
OR1C1	26188	broad.mit.edu	37	1	247921397	247921397	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247921397G>A	ENST00000408896.2	-	1	585	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAAGAAACGAAGAAGAAGA	0.473000													19	19					0	0	0.007413	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467820	35467820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:35467820C>T	ENST00000381151.3	+	2	835	c.323C>T	c.(322-324)aCc>aTc	p.T108I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	108						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGGGTATATACCATGCCTGAA	0.453000													185	301					0	0	0.003610	0	0
MALL	7851	broad.mit.edu	37	2	110849249	110849249	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:110849249G>A	ENST00000272462.2	-	2	977	c.204C>T	c.(202-204)ctC>ctT	p.L68L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	68	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TCAAGGAGATGAGAAACGAGG	0.468000													11	61					0	0	0.001855	0	0
AGBL1	123624	broad.mit.edu	37	15	86687022	86687022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:86687022G>A	ENST00000441037.2	+	2	165	c.70G>A	c.(70-72)Gac>Aac	p.D24N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D24N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	24					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCTCCTCCAGACTATGACAT	0.542000													17	63					0	0	0.006122	0	0
OPLAH	26873	broad.mit.edu	37	8	145112553	145112553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145112553G>A	ENST00000426825.1	-	10	1301	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	407							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AAAAATGCAGGGGAAGGAGGC	0.637000													9	16					0	0	0.006214	0	0
CACNA1S	779	broad.mit.edu	37	1	201012516	201012516	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201012516G>A	ENST00000362061.3	-	40	5167	c.4941C>T	c.(4939-4941)ttC>ttT	p.F1647F	CACNA1S_ENST00000367338.3_Silent_p.F1628F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1647					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATCTTGTGGGAAGTCCTCCA	0.552000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	21					0	0	0.003610	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451759	48451759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48451759G>A	ENST00000358536.4	-	31	5820	c.5551C>T	c.(5551-5553)Ccc>Tcc	p.P1851S	PLXNB1_ENST00000456774.1_Missense_Mutation_p.P1668S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1851S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P1668S|PLXNB1_ENST00000448774.2_Missense_Mutation_p.P462S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1851					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGAGGCAGGGGACGAGGGCC	0.637000													5	18					0	0	0.004482	0	0
THSD7B	80731	broad.mit.edu	37	2	138208522	138208522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:138208522C>T	ENST00000409968.1	+	15	3245	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R992*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R1023*					thrombospondin, type I, domain containing 7B									p.R1023*(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGAGAATTCGATCCAAATG	0.408000													8	22					0	0	0.003080	0	0
IGFN1	91156	broad.mit.edu	37	1	201186446	201186446	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201186446C>T	ENST00000335211.4	+	17	9757	c.9627C>T	c.(9625-9627)atC>atT	p.I3209I	IGFN1_ENST00000295591.8_Silent_p.I369I	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGCCAGCCATCCTGTCGGCCT	0.662000													19	61					0	0	0.001523	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948542	2948542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:2948542G>A	ENST00000380520.1	-	6	3115	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	SERPINB6_ENST00000380524.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380539.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380546.3_Missense_Mutation_p.S374F|SERPINB6_ENST00000380529.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000335686.5_Missense_Mutation_p.S374F			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	374					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	p.S374F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCACGGAGAGGAAAAGCGGCC	0.602000													11	60					0	0	0.000978	0	0
PCDH19	57526	broad.mit.edu	37	X	99661775	99661775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:99661775C>T	ENST00000373034.4	-	1	3496	c.1821G>A	c.(1819-1821)atG>atA	p.M607I	PCDH19_ENST00000255531.7_Missense_Mutation_p.M607I|PCDH19_ENST00000420881.2_Missense_Mutation_p.M607I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	607	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCCCTCGGTCATGTCGTAGG	0.552000													26	5					0	0	0.004656	0	0
OR5M1	390168	broad.mit.edu	37	11	56380307	56380307	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:56380307C>T	ENST00000526538.1	-	1	671	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGAAGATCGCTGCAAAAA	0.438000													34	26					0	0	0.002222	0	0
FMOD	2331	broad.mit.edu	37	1	203316739	203316739	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203316739C>T	ENST00000354955.4	-	2	1123	c.660G>A	c.(658-660)agG>agA	p.R220R	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	220					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			ACCGGAGGCCCCTCATGGAAC	0.567000													28	105					0	0	0.005443	0	0
SYNE2	23224	broad.mit.edu	37	14	64692073	64692073	+	Missense_Mutation	SNP	C	C	T	rs144405351		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:64692073C>T	ENST00000554584.1	+	115	20299	c.20248C>T	c.(20248-20250)Ctc>Ttc	p.L6750F	SYNE2_ENST00000441438.2_Silent_p.L373L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Silent_p.L612L|SYNE2_ENST00000394768.2_Silent_p.L3214L|SYNE2_ENST00000358025.3_Silent_p.L6851L|SYNE2_ENST00000357395.3_Silent_p.L3214L|SYNE2_ENST00000555002.1_Silent_p.L3485L|SYNE2_ENST00000458046.2_Silent_p.L500L|SYNE2_ENST00000344113.4_Silent_p.L6829L|SYNE2_ENST00000555022.1_Silent_p.L707L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	0					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCCTTCCTCTCAAGGGTGG	0.637000													13	5					0	0	0.001368	0	0
SCFD1	23256	broad.mit.edu	37	14	31164036	31164036	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:31164036C>T	ENST00000458591.2	+	15	1527	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L	SCFD1_ENST00000541123.1_Silent_p.L249L|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000544052.2_Silent_p.L367L|SCFD1_ENST00000421551.3_Silent_p.L375L|SCFD1_ENST00000396629.2_Silent_p.L342L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	434					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAAACTACTCTGGATAAATC	0.279000													13	70					0	0	0.002450	0	0
MTHFSD	64779	broad.mit.edu	37	16	86585794	86585794	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:86585794G>A	ENST00000381214.5	-	3	246	c.228C>T	c.(226-228)ttC>ttT	p.F76F	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.F75F|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000360900.6_Intron	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	76					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTCAAGGACGAAGAAGCGAG	0.488000													14	38					0	0	0.001855	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334529	5334529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:5334529C>T	ENST00000396872.2	+	6	744	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	SLC29A4_ENST00000406453.3_Missense_Mutation_p.P181S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.P195S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	195					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGGGATGCTGCCCAAGCGGTA	0.592000													107	121					0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47268117	47268117	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:47268117G>A	ENST00000396220.1	-	22	2494	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	PREX1_ENST00000371941.3_Silent_p.F824F			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	824					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACAGCAGTgggaaggctggaa	0.612000													33	28					0	0	0.002096	0	0
DSCAM	1826	broad.mit.edu	37	21	41711234	41711234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:41711234C>T	ENST00000400454.1	-	7	1796	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	440	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCCAGGGTCCACGTGATCGT	0.542000													7	32					0	0	0.004482	0	0
FUT9	10690	broad.mit.edu	37	6	96651729	96651729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:96651729C>T	ENST00000302103.5	+	3	1024	c.698C>T	c.(697-699)cCt>cTt	p.P233L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	233					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTTGATTCCTACCATATCT	0.353000													11	3					0	0	0.001368	0	0
OR10G4	390264	broad.mit.edu	37	11	123887152	123887152	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:123887152A>T	ENST00000320891.4	+	1	871	c.871A>T	c.(871-873)Aac>Tac	p.N291Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACCCTGAGAAACAAGGAGGT	0.433000													20	14					0	0	0.003330	0	0
ZNF225	7768	broad.mit.edu	37	19	44636451	44636451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44636451C>T	ENST00000262894.6	+	5	1964	c.1684C>T	c.(1684-1686)Cac>Tac	p.H562Y	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H562Y	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CCAGAGGGTCCACACCGGAGA	0.448000													21	31					0	0	0.001523	0	0
CNTN6	27255	broad.mit.edu	37	3	1367635	1367635	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:1367635G>A	ENST00000446702.2	+	9	1710	c.1083_splice	c.e9+1	p.E361_splice	CNTN6_ENST00000350110.2_Splice_Site_p.E361_splice|CNTN6_ENST00000539053.1_Splice_Site_p.E289_splice			Q9UQ52	CNTN6_HUMAN	contactin 6	361	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAACCCAGAGGTAAGCAACT	0.363000													9	23					0	0	0.000978	0	0
EPHA6	285220	broad.mit.edu	37	3	97311555	97311555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97311555G>A	ENST00000389672.5	+	12	2524	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	EPHA6_ENST00000514100.1_Missense_Mutation_p.G221E|EPHA6_ENST00000442602.2_Missense_Mutation_p.G195E|EPHA6_ENST00000502694.1_Missense_Mutation_p.G221E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	734	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGGGGGAGGATCTTTGCCC	0.547000													12	24					0	0	0.001368	0	0
MROH5	389690	broad.mit.edu	37	8	142458068	142458068	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142458068G>A	ENST00000430863.1	-	0	2838					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TCGCTGGGCAGGTTCAGCTCC	0.657000													10	11					0	0	0.001368	0	0
LILRB4	11006	broad.mit.edu	37	19	55177283	55177283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55177283G>A	ENST00000391736.1	+	9	1090	c.775G>A	c.(775-777)Gag>Aag	p.E259K	LILRB4_ENST00000391733.3_Missense_Mutation_p.E259K|LILRB4_ENST00000391734.3_Missense_Mutation_p.E259K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E259K|LILRB4_ENST00000430952.2_Missense_Mutation_p.E259K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	259						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AAGGCACTGGGAGGTACTGAT	0.552000													9	3					0	0	0.004482	0	0
SLTM	79811	broad.mit.edu	37	15	59180640	59180640	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59180640G>A	ENST00000380516.2	-	17	2406	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	SLTM_ENST00000536328.1_Silent_p.H342H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	773	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTCTCTCGGTGATCAAAGT	0.403000													22	108					0	0	0.004656	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575616	56575616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56575616G>A	ENST00000394023.3	-	9	817	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	SMARCC2_ENST00000550164.1_Missense_Mutation_p.H238Y|SMARCC2_ENST00000550859.1_5'UTR|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H238Y|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H238Y	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	238					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACTTTGCATGAACCTAAAGT	0.473000													18	29					0	0	0.007413	0	0
GOLT1B	51026	broad.mit.edu	37	12	21654863	21654863	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21654863C>T	ENST00000229314.5	+	1	115	c.6C>T	c.(4-6)atC>atT	p.I2I	GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000540141.1_Silent_p.I2I|GOLT1B_ENST00000535593.1_3'UTR	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	2					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						CAGCCATGATCTCCTTAACGG	0.677000													22	3					0	0	0.003330	0	0
ANO3	63982	broad.mit.edu	37	11	26463526	26463526	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:26463526C>T	ENST00000256737.3	+	2	960	c.108C>T	c.(106-108)tcC>tcT	p.S36S	ANO3_ENST00000525139.1_Silent_p.S20S|ANO3_ENST00000537978.1_Silent_p.S20S|ANO3_ENST00000531646.1_Silent_p.S36S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGGAGATCCCTGCCTTGCC	0.438000													86	24					0	0	0.003610	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967359	31967359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31967359G>A	ENST00000357886.4	-	9	1210	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R339C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R339C|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R249C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	353					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R339C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGAGCAAAACGAAGTCCTCCT	0.483000													46	34					0	0	0.002852	0	0
ETNPPL	64850	broad.mit.edu	37	4	109675807	109675807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:109675807C>T	ENST00000296486.3	-	5	624	c.470G>A	c.(469-471)gGa>gAa	p.G157E	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G99E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G117E|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G151E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		GACATCTTTTCCTTTCTGAAA	0.323000													19	11					0	0	0.001882	0	0
OR2M7	391196	broad.mit.edu	37	1	248487180	248487180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248487180C>T	ENST00000317965.2	-	1	719	c.691G>A	c.(691-693)Gga>Aga	p.G231R		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CGTCCCTCTCCAGATCCCATG	0.448000													60	241					0	0	0.003610	0	0
TDRKH	11022	broad.mit.edu	37	1	151751458	151751458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151751458C>T	ENST00000368822.1	-	6	1219	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	TDRKH_ENST00000368823.1_Missense_Mutation_p.E192K|TDRKH_ENST00000458431.2_Missense_Mutation_p.E196K|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.E151K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E196K|TDRKH_ENST00000368824.3_Missense_Mutation_p.E196K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	196							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTCATCTTCTGAAACTTTC	0.428000													62	21					0	0	0.003610	0	0
DHX29	54505	broad.mit.edu	37	5	54569141	54569141	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54569141G>T	ENST00000251636.5	-	17	2903	c.2755C>A	c.(2755-2757)Ccc>Acc	p.P919T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	919	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCTGGAGGGGGAAGTGTGAAT	0.363000													36	15					6.04917e-29	9.8779e-29	0.006999	1	0
PHLDA1	22822	broad.mit.edu	37	12	76424916	76424916	+	Silent	SNP	T	T	C	rs71714726		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:76424916T>C	ENST00000266671.5	-	1	2796	c.606A>G	c.(604-606)caA>caG	p.Q202Q	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.Q61Q			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	202	PH.|Poly-Gln.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CGGgctgttgttgctgctgct	0.647000													22	45					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179469558	179469558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179469558C>T	ENST00000589042.1	-	281	54482	c.54258G>A	c.(54256-54258)tgG>tgA	p.W18086*	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9021*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W9213*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16445*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9146*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15518*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16445	Fibronectin type-III 31.						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)			GAGGGGCATCCCATGTCAAGT	0.438000													21	27					0	0	0.001523	0	0
ITGA9	3680	broad.mit.edu	37	3	37555332	37555332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:37555332C>T	ENST00000264741.5	+	9	1232	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	ITGA9_ENST00000422441.1_Missense_Mutation_p.P326S	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	326					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGTGGGGGCCCCCATGTTTTC	0.547000													17	58					0	0	0.004990	0	0
LIN7B	64130	broad.mit.edu	37	19	49621263	49621263	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49621263A>G	ENST00000221459.2	+	5	634	c.590A>G	c.(589-591)cAt>cGt	p.H197R	LIN7B_ENST00000391864.3_Missense_Mutation_p.H127R	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	197					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CGCCAACAGCATCAGAGCTAC	0.647000													11	56					0	0	0.001368	0	0
FGFR3	2261	broad.mit.edu	37	4	1803418	1803418	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:1803418C>T	ENST00000340107.4	+	6	943	c.687C>T	c.(685-687)gtC>gtT	p.V229V	FGFR3_ENST00000481110.2_Silent_p.V229V|FGFR3_ENST00000352904.1_Silent_p.V229V|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Silent_p.V229V|FGFR3_ENST00000440486.2_Silent_p.V229V|FGFR3_ENST00000412135.2_Silent_p.V229V	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	229	Ig-like C2-type 2.				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)	ACACCTGCGTCGTGGAGAACA	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	16					0	0	0.003080	0	0
APOB	338	broad.mit.edu	37	2	21227961	21227961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21227961C>T	ENST00000233242.1	-	26	11906	c.11779G>A	c.(11779-11781)Gaa>Aaa	p.E3927K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3927					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATTTAGTTCATATTCTAGG	0.358000													92	245					0	0	0.003610	0	0
HAS1	3036	broad.mit.edu	37	19	52222579	52222579	+	Silent	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52222579C>G	ENST00000540069.2	-	2	639	c.579G>C	c.(577-579)ctG>ctC	p.L193L	HAS1_ENST00000601714.1_Silent_p.L201L|HAS1_ENST00000594621.1_Silent_p.L48L|HAS1_ENST00000222115.1_Silent_p.L194L			Q92839	HAS1_HUMAN	hyaluronan synthase 1	194					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTCCACTGCCAGCCGCCCAG	0.721000													4	11					0	0	0.000248	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691861	122691861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:122691861G>A	ENST00000535274.1	+	1	2715	c.988G>A	c.(988-990)Gag>Aag	p.E330K	B3GNT4_ENST00000324189.4_Missense_Mutation_p.E355K|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E330K|B3GNT4_ENST00000545141.1_Intron			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	355					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CAGCCCCCTCGAGATGTGGAC	0.627000													10	13					0	0	0.000978	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478590	85478590	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85478590G>A	ENST00000394573.1	+	15	1624	c.1422G>A	c.(1420-1422)ttG>ttA	p.L474L	SLC28A1_ENST00000537216.1_Silent_p.L474L|SLC28A1_ENST00000286749.3_Silent_p.L474L|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.L474L	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	474					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAGCCTTCTTGATGGGTGTGG	0.592000													25	40					0	0	0.003954	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920149	154920149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:154920149G>A	ENST00000368463.3	-	8	778	c.707C>T	c.(706-708)cCc>cTc	p.P236L	PBXIP1_ENST00000368460.3_Missense_Mutation_p.P205L|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P81L|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P63L|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P207L	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	236					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-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)			CAGCACCTCGGGGTCTGGGAG	0.632000													18	77					0	0	0.002299	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553440	140553440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140553440G>A	ENST00000231137.3	+	1	1198	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		342	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAAACGATAATCGACC	0.448000													8	37					0	0	0.003080	0	0
KRT76	51350	broad.mit.edu	37	12	53170524	53170524	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:53170524C>T	ENST00000332411.2	-	1	605	c.552G>A	c.(550-552)cgG>cgA	p.R184R		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTGTTCCCGCTCCTGGG	0.562000													17	129					0	0	0.001882	0	0
BAI3	577	broad.mit.edu	37	6	69349304	69349304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:69349304C>T	ENST00000370598.1	+	3	1558	c.737C>T	c.(736-738)gCc>gTc	p.A246V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	246					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCAGGGAGGCCAAGCGACCA	0.522000													5	8					0	0	0.001168	0	0
LTK	4058	broad.mit.edu	37	15	41803693	41803693	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:41803693C>T	ENST00000263800.6	-	6	837	c.741G>A	c.(739-741)cgG>cgA	p.R247R	LTK_ENST00000453182.2_Silent_p.R247R|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.R247R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	247					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGGCCTGAGTCCGGCCTCGGT	0.786000										TSP Lung(18;0.14)			3	6					0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11597185	11597185	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:11597185G>A	ENST00000262442.3	+	21	4683	c.4614_splice	c.e21-1	p.D1539_splice	DNAH9_ENST00000454412.2_Splice_Site_p.D1539_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1539	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTATTTGCAGGATTCTAAAAG	0.438000													12	52					0	0	0.001368	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891445	4891445	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:4891445C>T	ENST00000381781.2	-	3	641	c.642G>A	c.(640-642)caG>caA	p.Q214Q		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	214					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ATTTGCTGGTCTGGTTGTTGA	0.557000													8	33					0	0	0.004482	0	0
NHS	4810	broad.mit.edu	37	X	17744272	17744272	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:17744272C>T	ENST00000380060.3	+	6	2321	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	NHS_ENST00000398097.3_Silent_p.F505F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	661						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCAGTGTTTTCGTGACAGAGC	0.512000													96	11					0	0	0.003610	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679775	160679775	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:160679775C>T	ENST00000366953.3	-	1	273	c.15G>A	c.(13-15)gtG>gtA	p.V5V	SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	5					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.V5V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGACATCGTCCACGGTGGTGG	0.617000													18	1					0	0	0.001216	0	0
DCLK3	85443	broad.mit.edu	37	3	36759553	36759553	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36759553G>A	ENST00000416516.2	-	4	2191	c.1701C>T	c.(1699-1701)atC>atT	p.I567I		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	567	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCCAGCTGGATGATGTTAA	0.552000													63	64					0	0	0.003610	0	0
TRIM69	140691	broad.mit.edu	37	15	45047124	45047124	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:45047124C>T	ENST00000559390.1	+	3	961	c.33C>T	c.(31-33)atC>atT	p.I11I	TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Silent_p.I11I|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	11	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.I11I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCTCCAACATCGATCCAGGCG	0.433000													39	67					0	0	0.007835	0	0
TAL1	6886	broad.mit.edu	37	1	47685433	47685433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47685433G>A	ENST00000371883.3	-	4	1537	c.961C>T	c.(961-963)Cct>Tct	p.P321S	TAL1_ENST00000371884.2_Missense_Mutation_p.P319S|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.P319S			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	319					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCATGGCAGGATGGAGGCTG	0.697000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								12	29					0	0	0.003163	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693226	187693226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187693226C>T	ENST00000295131.2	-	9	1426	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	463					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTGTATTTTCATAGGCATCT	0.284000													9	24					0	0	0.000978	0	0
LRTM1	57408	broad.mit.edu	37	3	54958748	54958748	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54958748A>T	ENST00000273286.5	-	2	664	c.502T>A	c.(502-504)Tcc>Acc	p.S168T	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92T|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	168						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGGGCATGGATTCCAGGAGC	0.478000													18	53					0	0	0.001216	0	0
CARF	79800	broad.mit.edu	37	2	203817287	203817287	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:203817287C>T	ENST00000320443.8	+	5	1355	c.312C>T	c.(310-312)atC>atT	p.I104I	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Silent_p.I92I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000434998.1_Silent_p.I2I|CARF_ENST00000444724.1_Silent_p.I104I|CARF_ENST00000545253.1_Silent_p.I16I|CARF_ENST00000545262.1_Silent_p.I28I|CARF_ENST00000438828.2_Silent_p.I104I|CARF_ENST00000402905.2_Silent_p.I104I|CARF_ENST00000414439.1_Silent_p.I2I|CARF_ENST00000428585.1_Silent_p.I28I					calcium responsive transcription factor																		CCAAGATGATCGTTGCCAGCC	0.358000													59	109					0	0	0.003610	0	0
MMP16	4325	broad.mit.edu	37	8	89198734	89198734	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89198734C>T	ENST00000286614.6	-	3	656	c.375G>A	c.(373-375)caG>caA	p.Q125Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	125					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GCTGCCATTTCTGTCCTGTCA	0.423000													64	123					0	0	0.003610	0	0
NACA	4666	broad.mit.edu	37	12	57114463	57114463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57114463G>A	ENST00000454682.1	-	3	1132	c.851C>T	c.(850-852)cCt>cTt	p.P284L	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P284L|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTCACCACAGGAAGAGACTG	0.493000			T	BCL6	NHL								15	180					0	0	0.004007	0	0
ZNF483	158399	broad.mit.edu	37	9	114304365	114304365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:114304365C>T	ENST00000309235.5	+	6	1308	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCAGAAGATTCATTTGGGGGA	0.423000													28	51					0	0	0.001512	0	0
CAD	790	broad.mit.edu	37	2	27461301	27461301	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27461301C>T	ENST00000264705.4	+	31	5025	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I	CAD_ENST00000403525.1_Silent_p.I1558I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1621	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTCCCCAGATCCTGCTAATTA	0.552000													20	53					0	0	0.001216	0	0
RXFP1	59350	broad.mit.edu	37	4	159529156	159529156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:159529156C>T	ENST00000307765.5	+	6	748	c.497C>T	c.(496-498)tCc>tTc	p.S166F	RXFP1_ENST00000460056.2_Missense_Mutation_p.S85F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S133F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S166F|RXFP1_ENST00000423548.1_Missense_Mutation_p.S166F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S85F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	166						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACATCCATCTCCATCTATGCT	0.348000													13	59					0	0	0.003163	0	0
TUBB1	81027	broad.mit.edu	37	20	57599608	57599608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:57599608G>A	ENST00000217133.1	+	4	1395	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	376					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCATCCAAGAGATCTTTAA	0.527000													27	24					0	0	0.004656	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668773	43668773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43668773G>A	ENST00000564079.1	+	3	520	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.D94N	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	94					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CACAGGGCTGGATTCTGTTTT	0.483000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	37					0	0	0.006122	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	132					0	0	0.000248	0	0
OR51A7	119687	broad.mit.edu	37	11	4928765	4928765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4928765C>T	ENST00000359350.4	+	1	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTCGCTTCATGAGCCCAT	0.493000													57	14					0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959902	157959902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:157959902G>A	ENST00000389413.3	-	6	734	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.Q173*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.Q234*|PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.Q194*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.Q211*	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	211						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCGGAGCTGGGTCCGGGAC	0.637000													28	58					0	0	0.001512	0	0
APOBEC1	339	broad.mit.edu	37	12	7805127	7805127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7805127C>T	ENST00000229304.4	-	3	369	c.349G>A	c.(349-351)Gct>Act	p.A117T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	117					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAAAGCCGAGCTACGTAGATC	0.478000													12	48					0	0	0.002450	0	0
ZNF536	9745	broad.mit.edu	37	19	31039452	31039452	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:31039452C>T	ENST00000355537.3	+	4	3073	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTATGAACCCCTGGACTTGTC	0.577000													53	63					0	0	0.003610	0	0
PRG2	5553	broad.mit.edu	37	11	57155261	57155261	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57155261G>A	ENST00000311862.5	-	5	649	c.576C>T	c.(574-576)tcC>tcT	p.S192S	PRG2_ENST00000533605.1_Silent_p.S181S|PRG2_ENST00000525955.1_Silent_p.S192S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCACCGCGGGACCAGGGCT	0.617000													3	10					0	0	0.000248	0	0
EP400	57634	broad.mit.edu	37	12	132474600	132474600	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:132474600C>A	ENST00000333577.4	+	9	2718	c.2609C>A	c.(2608-2610)gCc>gAc	p.A870D	EP400_ENST00000389561.2_Missense_Mutation_p.A834D|EP400_ENST00000332482.4_Missense_Mutation_p.A797D|EP400_ENST00000389562.2_Missense_Mutation_p.A833D|EP400_ENST00000330386.6_Missense_Mutation_p.A834D			Q96L91	EP400_HUMAN	E1A binding protein p400	870	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGCGGATAGCCGCCTCCACG	0.562000													26	47					8.24728e-16	1.34278e-15	0.004656	1	0
SH3RF1	57630	broad.mit.edu	37	4	170017731	170017731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:170017731C>T	ENST00000284637.9	-	12	2947	c.2606G>A	c.(2605-2607)gGc>gAc	p.G869D		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	869	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTGTAATGTGCCTTTGAACCA	0.418000													55	36					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47566544	47566544	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:47566544G>A	ENST00000285039.7	-	3	578	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	93	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGACTCCAGGAAACGGACCT	0.468000													77	64					0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17759754	17759754	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17759754G>A	ENST00000428389.2	-	16	1826	c.1827C>T	c.(1825-1827)gcC>gcT	p.A609A	UNC13A_ENST00000519716.2_Silent_p.A521A|UNC13A_ENST00000552293.1_Silent_p.A521A|UNC13A_ENST00000551649.1_Silent_p.A521A|UNC13A_ENST00000550896.1_Silent_p.A519A|UNC13A_ENST00000252773.7_Silent_p.A521A			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	521					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGAGGCCAAGGCCGAGGTGA	0.607000													4	4					0	0	0.001168	0	0
SEMG1	6406	broad.mit.edu	37	20	43836048	43836048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43836048C>T	ENST00000372781.3	+	2	167	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S37F	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGTGAATTTTCCCAATTTCCA	0.403000													87	99					0	0	0.003610	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400099	13400099	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:13400099G>A	ENST00000284110.1	-	2	1433	c.636C>T	c.(634-636)acC>acT	p.T212T	HS3ST3A1_ENST00000578576.1_Silent_p.T10T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	212						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTTCTCCATGGTGATCTGCC	0.612000													7	57					0	0	0.001984	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545857	28545857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:28545857C>T	ENST00000401766.2	-	3	948	c.436G>A	c.(436-438)Gga>Aga	p.G146R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G146R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	146					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAAATGCATCCATTTCGGTGG	0.522000													75	52					0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171079971	171079971	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:171079971G>A	ENST00000367755.4	+	6	771	c.660G>A	c.(658-660)gtG>gtA	p.V220V	FMO3_ENST00000392085.2_Silent_p.V220V|FMO3_ENST00000538429.1_Silent_p.V157V|FMO3_ENST00000542847.1_Silent_p.V200V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	220					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTCCTGGGTGATGAGCCGGG	0.468000													42	114					0	0	0.003610	0	0
USP40	55230	broad.mit.edu	37	2	234402155	234402155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234402155G>A	ENST00000251722.6	-	25	2947	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	USP40_ENST00000450966.1_Missense_Mutation_p.P956S|USP40_ENST00000427112.2_Missense_Mutation_p.P944S|USP40_ENST00000409945.1_Missense_Mutation_p.P120S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	944					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGTCCTGAGGGACCCTGAAGC	0.498000													6	17					0	0	0.001168	0	0
DNTT	1791	broad.mit.edu	37	10	98092340	98092340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98092340G>A	ENST00000419175.1	+	9	1516	c.1346G>A	c.(1345-1347)tGg>tAg	p.W449*	DNTT_ENST00000371174.2_Nonsense_Mutation_p.W449*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	449	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTGTTGGGATGGACTGGCTCC	0.577000													47	87					0	0	0.003610	0	0
GPSM1	26086	broad.mit.edu	37	9	139250996	139250996	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:139250996G>A	ENST00000440944.1	+	13	2035	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	GPSM1_ENST00000392944.1_Silent_p.K96K|GPSM1_ENST00000429455.1_Silent_p.K96K	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	605	GoLoco 3.				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGCTCATCAAGTACCAGGTGG	0.682000													5	13					0	0	0.001168	0	0
RGS6	9628	broad.mit.edu	37	14	72985102	72985102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:72985102G>A	ENST00000553530.1	+	15	1342	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RGS6_ENST00000407322.4_Missense_Mutation_p.D379N|RGS6_ENST00000404301.2_Missense_Mutation_p.D379N|RGS6_ENST00000402788.2_Missense_Mutation_p.D379N|RGS6_ENST00000556437.1_Missense_Mutation_p.D379N|RGS6_ENST00000434263.2_Missense_Mutation_p.D310N|RGS6_ENST00000555571.1_Missense_Mutation_p.D379N|RGS6_ENST00000355512.6_Missense_Mutation_p.D379N|RGS6_ENST00000553525.1_Missense_Mutation_p.D379N|RGS6_ENST00000343854.6_Missense_Mutation_p.D342N|RGS6_ENST00000406236.4_Missense_Mutation_p.D379N|RGS6_ENST00000554782.1_Missense_Mutation_p.D240N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	379	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACCCCTACAGGATGTGGCCAA	0.517000													27	12					0	0	0.005443	0	0
DSCR10	259234	broad.mit.edu	37	21	39580310	39580310	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:39580310G>A	ENST00000432141.1	+	0	432					NR_027695.1																						TGTGTGCCCTGATGTGGACCT	0.572000													24	64					0	0	0.003330	0	0
MYO18B	84700	broad.mit.edu	37	22	26423113	26423113	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26423113G>A	ENST00000335473.7	+	43	7423	c.7173G>A	c.(7171-7173)gtG>gtA	p.V2391V	MYO18B_ENST00000536101.1_Silent_p.V2391V|MYO18B_ENST00000407587.2_Silent_p.V2392V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2391						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCCTCTGTGGACGATGCGG	0.597000													67	28					0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142190863	142190863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142190863G>A	ENST00000519811.1	+	17	2924	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	DENND3_ENST00000424248.1_Missense_Mutation_p.E820K|DENND3_ENST00000262585.2_Missense_Mutation_p.E872K|DENND3_ENST00000518806.1_3'UTR			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	872										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGCTTCCGGAGACAACCCT	0.562000													22	37					0	0	0.003330	0	0
CCDC67	159989	broad.mit.edu	37	11	93122228	93122228	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:93122228G>A	ENST00000298050.3	+	9	1078	c.978G>A	c.(976-978)agG>agA	p.R326R	CCDC67_ENST00000525646.1_Silent_p.R68R	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	326										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACCAGAAAGGAAAATAAAAG	0.284000													6	11					0	0	0.001984	0	0
THRAP3	9967	broad.mit.edu	37	1	36752763	36752763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36752763C>T	ENST00000354618.5	+	4	1156	c.932C>T	c.(931-933)cCa>cTa	p.P311L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P311L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	311	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCTGAGTCCATCCAAAAAG	0.562000			T	USP6	aneurysmal bone cysts								15	22					0	0	0.002450	0	0
CTNND2	1501	broad.mit.edu	37	5	11732344	11732344	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:11732344C>T	ENST00000304623.8	-	2	267	c.78G>A	c.(76-78)gaG>gaA	p.E26E	CTNND2_ENST00000359640.2_Silent_p.E26E|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	26					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACTCGTCTTCTCTGAGGCTG	0.507000													17	77					0	0	0.007413	0	0
RYR3	6263	broad.mit.edu	37	15	34102837	34102837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:34102837C>T	ENST00000389232.4	+	71	10254	c.10184C>T	c.(10183-10185)tCg>tTg	p.S3395L	RYR3_ENST00000415757.3_Missense_Mutation_p.S3390L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3395					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCGCAAAATCGCGATACAGC	0.542000													12	29					0	0	0.003163	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471912	47471912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47471912G>A	ENST00000266581.4	-	2	1340	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292C|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292C	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	292	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCAAGCGCACGAAAGGAACCA	0.512000													79	51					0	0	0.003610	0	0
PKP2	5318	broad.mit.edu	37	12	32993972	32993972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:32993972C>T	ENST00000340811.4	-	6	1654	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	PKP2_ENST00000070846.6_Missense_Mutation_p.G560R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	560					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTAGGCATCCAGTGACGTTG	0.443000													43	108					0	0	0.003610	0	0
CAPN3	825	broad.mit.edu	37	15	42684884	42684884	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:42684884C>T	ENST00000397163.3	+	7	1212	c.993C>T	c.(991-993)gtC>gtT	p.V331V	CAPN3_ENST00000318023.7_Silent_p.V331V|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.V331V|CAPN3_ENST00000356316.3_Silent_p.V244V|CAPN3_ENST00000349748.3_Silent_p.V283V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	331	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCGGGCTGGTCAGAGGTCACG	0.572000													8	19					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802839	185802839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185802839G>A	ENST00000302277.6	+	4	3310	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	906						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTTCTGGTGAATTGTCAGA	0.408000													13	27					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237796890	237796890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:237796890C>T	ENST00000366574.2	+	43	6885	c.6568C>T	c.(6568-6570)Ccc>Tcc	p.P2190S	RYR2_ENST00000360064.6_Missense_Mutation_p.P2188S|RYR2_ENST00000542537.1_Missense_Mutation_p.P2174S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2190	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATCACCTTTCCCAAGATGGT	0.388000													68	216					0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57589078	57589078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57589078C>T	ENST00000243077.3	+	52	8799	c.8333C>T	c.(8332-8334)tCc>tTc	p.S2778F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2778	LDL-receptor class A 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCCTCCTCCTTCTCCTGC	0.622000													44	294					0	0	0.002522	0	0
FTSJ1	24140	broad.mit.edu	37	X	48336904	48336904	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48336904C>T	ENST00000019019.2	+	4	618	c.189C>T	c.(187-189)atC>atT	p.I63I	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000348411.2_Silent_p.I63I|FTSJ1_ENST00000456787.1_Silent_p.I63I	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	63					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GCCAGAAGATCGGGTAAGTGT	0.632000													15	1					0	0	0.006122	0	0
BCL9L	283149	broad.mit.edu	37	11	118769744	118769744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:118769744G>A	ENST00000334801.3	-	8	4844	c.3880C>T	c.(3880-3882)Cca>Tca	p.P1294S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1294	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACACCCGGTGGGTATGCGTCG	0.687000													7	2					0	0	0.003080	0	0
TRPM2	7226	broad.mit.edu	37	21	45860727	45860727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45860727C>T	ENST00000397928.1	+	31	4770	c.4325C>T	c.(4324-4326)aCg>aTg	p.T1442M	TRPM2_ENST00000397932.2_Missense_Mutation_p.T1492M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1442M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1388M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1442	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGATCGAGACGGTGGCCGTC	0.617000													42	52					0	0	0.003610	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370833	35370833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:35370833C>T	ENST00000373347.1	-	3	420	c.152G>A	c.(151-153)aGa>aAa	p.R51K	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.R51K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	51					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGGCCAGCTCTCGGGGCACA	0.701000													5	8					0	0	0.001168	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058665	79058665	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:79058665G>A	ENST00000388820.4	-	19	3798	c.3588C>T	c.(3586-3588)ttC>ttT	p.F1196F		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCCAACTGGGAAATCATTTT	0.612000													8	34					0	0	0.003080	0	0
FRS2	10818	broad.mit.edu	37	12	69965190	69965190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69965190C>T	ENST00000299293.2	+	8	898	c.388C>T	c.(388-390)Cct>Tct	p.P130S	FRS2_ENST00000550389.1_Missense_Mutation_p.P130S|FRS2_ENST00000397997.2_Missense_Mutation_p.P130S|FRS2_ENST00000549921.1_Missense_Mutation_p.P130S	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	130					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATTGGAAGTCCCTAGAACACC	0.343000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	145					0	0	0.003080	0	0
ZNF235	9310	broad.mit.edu	37	19	44791712	44791712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44791712G>A	ENST00000291182.4	-	5	1978	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATTTATATGGTTTCTCTCCG	0.458000													43	83					0	0	0.002522	0	0
FBN1	2200	broad.mit.edu	37	15	48704769	48704769	+	Silent	SNP	G	G	A	rs150065311		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48704769G>A	ENST00000316623.5	-	65	8678	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2741					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACCCACCTCGATATTGGAGG	0.493000													67	53					0	0	0.003610	0	0
LEPREL4	10609	broad.mit.edu	37	17	39966001	39966001	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39966001G>A	ENST00000355468.3	-	5	1339	c.873C>T	c.(871-873)ttC>ttT	p.F291F	LEPREL4_ENST00000393928.1_Silent_p.F291F			Q92791	SC65_HUMAN	leprecan-like 4	291					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGGTGGCCACGAACTTGTCCA	0.577000													45	40					0	0	0.003214	0	0
RP1	6101	broad.mit.edu	37	8	55538600	55538600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538600C>T	ENST00000220676.1	+	4	2306	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	720					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAGATAGTCCCCTTAAAGG	0.348000													11	10					0	0	0.000673	0	0
BBS7	55212	broad.mit.edu	37	4	122756341	122756341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:122756341G>A	ENST00000264499.4	-	14	1652	c.1469C>T	c.(1468-1470)cCt>cTt	p.P490L	BBS7_ENST00000506636.1_Missense_Mutation_p.P490L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	490					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGTGAAAGAGGTTTGATGTG	0.408000									Bardet-Biedl syndrome				17	20					0	0	0.001523	0	0
QRICH1	54870	broad.mit.edu	37	3	49114439	49114439	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49114439G>A	ENST00000395443.2	-	2	484	c.12C>T	c.(10-12)tcC>tcT	p.S4S	QRICH1_ENST00000424300.1_Silent_p.S4S|QRICH1_ENST00000357496.2_Silent_p.S4S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	4	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTCTCTAGGGAATTATTCA	0.428000													21	87					0	0	0.001882	0	0
ACTN2	88	broad.mit.edu	37	1	236881274	236881274	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:236881274T>C	ENST00000366578.4	+	2	407		c.e2+2		ACTN2_ENST00000492634.1_Splice_Site|ACTN2_ENST00000542672.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCTCAGGTTGGTGTTATA	0.448000													21	11					0	0	0.001216	0	0
POF1B	79983	broad.mit.edu	37	X	84559434	84559434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:84559434C>T	ENST00000262753.4	-	14	1626	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	POF1B_ENST00000373145.3_Missense_Mutation_p.G494E	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	494							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACAACTTCCTTCTCTCTT	0.338000													20	1					0	0	0.001216	0	0
GPR125	166647	broad.mit.edu	37	4	22414874	22414874	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22414874A>G	ENST00000334304.5	-	14	2432	c.2163T>C	c.(2161-2163)caT>caC	p.H721H	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	721	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AATAGAGTATATGGCACCCAT	0.438000													35	71					0	0	0.004289	0	0
TXK	7294	broad.mit.edu	37	4	48081967	48081967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48081967C>T	ENST00000264316.4	-	11	1220	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	TXK_ENST00000507351.1_Missense_Mutation_p.E34K	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	379	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCAGATATTCCATTCCTTCA	0.373000													35	57					0	0	0.006999	0	0
FAT2	2196	broad.mit.edu	37	5	150901331	150901331	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150901331G>T	ENST00000261800.5	-	18	10835	c.10823C>A	c.(10822-10824)aCc>aAc	p.T3608N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3608	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGTGAAGGTCCCATCGCT	0.632000													10	31					1.58986e-06	2.56658e-06	0.000673	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604586	140604586	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140604586G>A	ENST00000239449.4	+	1	1509	c.1509G>A	c.(1507-1509)ttG>ttA	p.L503L	PCDHB14_ENST00000515856.2_Silent_p.L350L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCCTCCTTGGTCTCCATCA	0.657000													22	159					0	0	0.004656	0	0
ADAM29	11086	broad.mit.edu	37	4	175898965	175898965	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:175898965G>A	ENST00000359240.3	+	5	2959	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	ADAM29_ENST00000445694.1_Silent_p.V763V|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.V763V|ADAM29_ENST00000404450.4_Silent_p.V763V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	763	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AACCTCCTGTGACACCCTCCC	0.567000													79	57					0	0	0.003610	0	0
OR8I2	120586	broad.mit.edu	37	11	55860905	55860905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:55860905G>A	ENST00000302124.2	+	1	153	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR8I2_ENST00000560768.1_Missense_Mutation_p.G41E			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACTGTTTTGGGAAACCTGGGA	0.383000													102	71					0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045623	42045623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:42045623G>A	ENST00000372584.1	-	3	5860	c.4846C>T	c.(4846-4848)Cac>Tac	p.H1616Y	HIVEP3_ENST00000247584.5_Missense_Mutation_p.H1616Y|HIVEP3_ENST00000429157.2_Missense_Mutation_p.H1616Y|HIVEP3_ENST00000372583.1_Missense_Mutation_p.H1616Y	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1616					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCTGGATGTGATTTGGCTTA	0.473000													36	50					0	0	0.004878	0	0
POTEG	404785	broad.mit.edu	37	14	19553545	19553545	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:19553545G>A	ENST00000409832.3	+	1	181	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	43										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGCAACGTGGGCACTTCTG	0.602000													24	470					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179452781	179452781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179452781C>T	ENST00000589042.1	-	305	63577	c.63353G>A	c.(63352-63354)cGg>cAg	p.R21118Q	TTN_ENST00000460472.2_Missense_Mutation_p.R12053Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12245Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19477Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12178Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18550Q|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19477	Fibronectin type-III 53.						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)			AGCATTACACCGTTTCCAGCC	0.463000													13	28					0	0	0.001855	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909261	32909261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:32909261G>A	ENST00000304056.4	-	4	2267	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	523										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCTAACACAGGGGTCAGAGTA	0.423000													98	60					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55540222	55540222	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55540222G>A	ENST00000220676.1	+	4	3928	c.3780G>A	c.(3778-3780)gaG>gaA	p.E1260E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1260					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCATGTGAGATGTGCACTG	0.443000													57	43					0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34961077	34961077	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34961077G>A	ENST00000329357.5	+	1	165	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	43										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCGCCTGTGGACACCCAGA	0.572000													20	3					0	0	0.002299	0	0
SCN1A	6323	broad.mit.edu	37	2	166866246	166866246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:166866246G>A	ENST00000423058.2	-	20	4002	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1301*|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1318*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1329*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1329						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1318R(1)|p.R1329R(1)		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)	CCTTCAAATCGAGATAAGGCT	0.358000													11	25					0	0	0.000978	0	0
ACO1	48	broad.mit.edu	37	9	32419040	32419040	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:32419040C>T	ENST00000379923.1	+	8	869	c.663C>T	c.(661-663)gtC>gtT	p.V221V	ACO1_ENST00000309951.5_Silent_p.V221V|ACO1_ENST00000541043.1_Silent_p.V122V	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	221					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTGCAGGTGTCGGTGGTATTG	0.488000													14	19					0	0	0.001855	0	0
EPHB6	2051	broad.mit.edu	37	7	142562473	142562473	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142562473C>T	ENST00000392957.2	+	7	1702	c.915C>T	c.(913-915)taC>taT	p.Y305Y	EPHB6_ENST00000442129.1_Silent_p.Y305Y|EPHB6_ENST00000411471.2_Silent_p.Y28Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	305	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGCCTGGATACCAACCAGCAC	0.672000													89	9					0	0	0.003610	0	0
SEMG2	6407	broad.mit.edu	37	20	43850450	43850450	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:43850450C>T	ENST00000372769.3	+	2	267	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	59					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATACTAAATCCAAAGGCAGTT	0.403000													38	81					0	0	0.006230	0	0
DENND3	22898	broad.mit.edu	37	8	142151412	142151412	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:142151412C>T	ENST00000519811.1	+	4	682	c.612C>T	c.(610-612)gaC>gaT	p.D204D	DENND3_ENST00000424248.1_Silent_p.D124D|DENND3_ENST00000262585.2_Silent_p.D124D|DENND3_ENST00000518347.1_Silent_p.D204D			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	124	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTCAAGGACTGCCTTTCCT	0.627000													34	39					0	0	0.006999	0	0
INCENP	3619	broad.mit.edu	37	11	61906202	61906202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61906202C>T	ENST00000394818.3	+	6	1335	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	INCENP_ENST00000278849.4_Missense_Mutation_p.P378L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	378					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAAGGAACCCCCCGAGGAG	0.632000													10	29					0	0	0.006214	0	0
SUCO	51430	broad.mit.edu	37	1	172558334	172558334	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:172558334T>C	ENST00000367723.3	+	17	2673	c.2549T>C	c.(2548-2550)gTt>gCt	p.V850A	SUCO_ENST00000263688.3_Missense_Mutation_p.V698A	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAAACTGTTGTTCTGGGTGAT	0.413000													23	81					0	0	0.003330	0	0
DAB1	1600	broad.mit.edu	37	1	57476456	57476456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:57476456C>T	ENST00000371236.2	-	14	1843	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	DAB1_ENST00000371234.4_Missense_Mutation_p.G527E|DAB1_ENST00000371231.1_Missense_Mutation_p.G560E|DAB1_ENST00000420954.2_Missense_Mutation_p.G525E|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.G509E|DAB1_ENST00000439789.2_Missense_Mutation_p.G441E			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	560					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCCTGTGATCCATCAGGCTA	0.438000													32	41					0	0	0.001786	0	0
PRKG1	5592	broad.mit.edu	37	10	53814296	53814296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:53814296C>T	ENST00000373980.4	+	6	1232	c.815C>T	c.(814-816)aCc>aTc	p.T272I	PRKG1_ENST00000373985.1_Missense_Mutation_p.T245I|PRKG1_ENST00000401604.2_Missense_Mutation_p.T257I|PRKG1_ENST00000373975.2_5'UTR	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	257					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAGGGGACACCTTCTTTATC	0.413000													10	41					0	0	0.001855	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975249	31975249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31975249G>A	ENST00000357886.4	-	6	788	c.635C>T	c.(634-636)cCc>cTc	p.P212L	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.P122L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	212	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAGCAGCCGGGGAAGGTCCCG	0.567000													61	109					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54305505	54305505	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54305505G>A	ENST00000545554.1	+	1	405	c.405G>A	c.(403-405)agG>agA	p.R135R	UNC13C_ENST00000260323.11_Silent_p.R135R|UNC13C_ENST00000537900.1_Silent_p.R135R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	135					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAACTAAGGAGTAGCACAG	0.438000													26	38					0	0	0.004656	0	0
FCAMR	83953	broad.mit.edu	37	1	207143431	207143431	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207143431C>T	ENST00000324852.4	-	1	514		c.e1+1		FCAMR_ENST00000450945.2_Splice_Site|FCAMR_ENST00000400962.3_Splice_Site	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity							integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CATCATTTCACCTTTTGTTCT	0.512000													5	68					0	0	0.001168	0	0
ASB18	401036	broad.mit.edu	37	2	237103554	237103554	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237103554C>T	ENST00000330842.6	-	5	1369	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.Q454Q|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	454	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GTAGGTAATTCTGCAGGGGCT	0.537000													8	10					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498985	110498985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:110498985C>T	ENST00000378402.5	+	59	9919	c.9815C>T	c.(9814-9816)tCt>tTt	p.S3272F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3272					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)			CCCGGTTGGTCTGAGGACTCT	0.423000										HNSCC(38;0.096)			80	94					0	0	0.003610	0	0
AVIL	10677	broad.mit.edu	37	12	58197128	58197128	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58197128A>C	ENST00000537081.1	-	15	1842	c.1843T>G	c.(1843-1845)Tcc>Gcc	p.S615A	AVIL_ENST00000257861.3_Missense_Mutation_p.S622A|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	622	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTCTTATTGGAACATTCAAAG	0.448000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	435					0	0	0.007291	0	0
SVOPL	136306	broad.mit.edu	37	7	138305826	138305826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:138305826G>A	ENST00000421622.1	-	10	1166	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	SVOPL_ENST00000288513.5_Missense_Mutation_p.R288C|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.R288C|SVOPL_ENST00000419765.3_Missense_Mutation_p.R440C			Q8N434	SVOPL_HUMAN	SVOP-like	440						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCACCAATGCGACACAGGGAG	0.582000													31	6					0	0	0.006230	0	0
PCNT	5116	broad.mit.edu	37	21	47801634	47801634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:47801634C>T	ENST00000359568.5	+	16	3298	c.3191C>T	c.(3190-3192)aCt>aTt	p.T1064I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1064					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAAAGAAAACTGCTTTGCAT	0.403000													36	174					0	0	0.007835	0	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235600750C>T	ENST00000543662.1	+	13	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.I359I|TBCE_ENST00000406207.1_Silent_p.I359I			Q15813	TBCE_HUMAN	tubulin folding cofactor E	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000													10	44					0	0	0.001855	0	0
PIPSL	266971	broad.mit.edu	37	10	95720036	95720036	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:95720036C>T	ENST00000480546.1	-	0	1261					NR_002319.2																						GACAGTGTCTCCGTCATGTAT	0.463000													27	57					0	0	0.007291	0	0
FYB	2533	broad.mit.edu	37	5	39119080	39119080	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:39119080T>A	ENST00000351578.6	-	15	2349	c.2159A>T	c.(2158-2160)aAa>aTa	p.K720I	FYB_ENST00000540520.1_Missense_Mutation_p.K776I|FYB_ENST00000512982.1_Missense_Mutation_p.K766I|FYB_ENST00000515010.1_Missense_Mutation_p.K720I|FYB_ENST00000505428.1_Missense_Mutation_p.K766I	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	720					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCCCCACTTTTTAGAAGTTAT	0.328000													10	35					0	0	0.006214	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32495997	32495997	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:32495997C>T	ENST00000327300.7	+	2	648	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	KHDRBS1_ENST00000492989.1_Silent_p.L161L|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	161					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAGCGAGTGCTGATACCTGT	0.358000													15	23					0	0	0.003163	0	0
ABCC4	10257	broad.mit.edu	37	13	95735479	95735479	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:95735479G>A	ENST00000376887.4	-	21	2715	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	ABCC4_ENST00000412704.1_Silent_p.P820P	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	867	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGGGAACCAAGGGTATTGCGA	0.438000													8	18					0	0	0.003080	0	0
ZNF418	147686	broad.mit.edu	37	19	58439268	58439268	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58439268A>C	ENST00000396147.1	-	4	572	c.281T>G	c.(280-282)aTt>aGt	p.I94S	ZNF418_ENST00000595830.1_Missense_Mutation_p.I94S|ZNF418_ENST00000425570.3_Missense_Mutation_p.I115S|ZNF418_ENST00000599852.1_Missense_Mutation_p.I9S|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CAAGTGCAAAATGTCTCCCAA	0.498000													69	41					0	0	0.003610	0	0
GCLM	2730	broad.mit.edu	37	1	94362304	94362304	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:94362304T>A	ENST00000370238.3	-	5	656	c.410A>T	c.(409-411)aAt>aTt	p.N137I	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	137					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CAAGGAAAGATTAACTCCATC	0.408000													27	42					0	0	0.006320	0	0
C1S	716	broad.mit.edu	37	12	7177477	7177477	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7177477T>A	ENST00000406697.1	+	15	2217	c.1589T>A	c.(1588-1590)aTt>aAt	p.I530N	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.I530N|C1S_ENST00000328916.3_Missense_Mutation_p.I530N|C1S_ENST00000402681.3_Missense_Mutation_p.I363N			P09871	C1S_HUMAN	complement component 1, s subcomponent	530	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GATAATGACATTGCACTGGTG	0.517000													21	7					0	0	0.001882	0	0
CBLL1	79872	broad.mit.edu	37	7	107389390	107389390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:107389390C>T	ENST00000440859.2	+	2	546	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CBLL1_ENST00000222597.2_Missense_Mutation_p.P27S|CBLL1_ENST00000415884.2_Missense_Mutation_p.P27S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	27					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGACGAATTCCTATAAAGCT	0.418000													53	122					0	0	0.003610	0	0
PGS1	9489	broad.mit.edu	37	17	76400049	76400049	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76400049C>T	ENST00000262764.6	+	7	1307	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	PGS1_ENST00000329897.7_Silent_p.A292A|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	427					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TGGCCGGCGCCATCCCAGCGG	0.632000													17	40					0	0	0.001216	0	0
FOXN1	8456	broad.mit.edu	37	17	26856199	26856199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26856199G>A	ENST00000226247.2	+	4	816	c.787G>A	c.(787-789)Gat>Aat	p.D263N	FOXN1_ENST00000579795.1_Missense_Mutation_p.D263N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	263					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCCAGCACCGATGGGCACCA	0.597000													22	57					0	0	0.006320	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81063817	81063817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:81063817C>T	ENST00000334512.5	+	19	2743	c.2171C>T	c.(2170-2172)aCc>aTc	p.T724I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	724					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCAACACGACCCTCAACGGG	0.617000													13	24					0	0	0.001855	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685897	125685897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:125685897G>A	ENST00000371126.1	-	1	937	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	232										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTATGCCAGGCAACAGTGTC	0.647000													20	2					0	0	0.001216	0	0
BTNL8	79908	broad.mit.edu	37	5	180377239	180377239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180377239C>T	ENST00000340184.4	+	8	1404	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P216S|BTNL8_ENST00000511704.1_Missense_Mutation_p.P284S|BTNL8_ENST00000400707.3_Missense_Mutation_p.P275S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P193S	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	400	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGTCTTCCCCAGGACCCC	0.463000													53	29					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141081540	141081540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:141081540C>T	ENST00000389484.3	-	81	13407	c.12436G>A	c.(12436-12438)Ggt>Agt	p.G4146S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4146					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTACTGAACCATGGCCAAAT	0.299000										TSP Lung(27;0.18)			17	63					0	0	0.004007	0	0
KCNB2	9312	broad.mit.edu	37	8	73849945	73849945	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73849945C>T	ENST00000523207.1	+	3	2943	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	785					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGGGCTGTCCCCCAGGTTTC	0.527000													15	28					0	0	0.003163	0	0
WWC1	23286	broad.mit.edu	37	5	167812347	167812347	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167812347C>T	ENST00000265293.4	+	3	863	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	WWC1_ENST00000521089.1_Silent_p.L121L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	121					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCAGCAGCGCCTGGAGCTTGC	0.597000													9	56					0	0	0.006214	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793363	65793363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65793363G>A	ENST00000312106.5	-	1	625	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	163	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACGCCAGAGGAATAGTGGGA	0.572000													10	30					0	0	0.001368	0	0
KCNB2	9312	broad.mit.edu	37	8	73849944	73849944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73849944C>T	ENST00000523207.1	+	3	2942	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	785					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAAGGGCTGTCCCCCAGGTTT	0.522000													15	30					0	0	0.003163	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703747	187703747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:187703747C>T	ENST00000295131.2	-	4	472	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	145					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGCAGATATCCTCTGAATCA	0.358000													55	107					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52321654	52321654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52321654G>A	ENST00000356297.4	-	17	2630	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P844S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	844					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGTTCATGGGGAAACAAGGA	0.701000													13	15					0	0	0.001855	0	0
REV1	51455	broad.mit.edu	37	2	100058907	100058907	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:100058907G>A	ENST00000258428.3	-	5	603	c.375C>T	c.(373-375)tcC>tcT	p.S125S	REV1_ENST00000393445.3_Silent_p.S125S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	125	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGAATGTAGGAGAGGAGTC	0.443000								Direct reversal of damage					17	48					0	0	0.004990	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73961534	73961534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73961534C>T	ENST00000476977.1	+	17	3525	c.1834C>T	c.(1834-1836)Ctc>Ttc	p.L612F	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L612F|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L612F|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L644F			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	612						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGCATCTCCCTCCGCAGGCC	0.587000													22	45					0	0	0.001882	0	0
AZI1	22994	broad.mit.edu	37	17	79193716	79193716	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79193716G>A	ENST00000269392.4	-	2	388	c.141C>T	c.(139-141)tcC>tcT	p.S47S	AZI1_ENST00000450824.2_Silent_p.S47S|AZI1_ENST00000575907.1_Silent_p.S47S|AZI1_ENST00000374782.3_Silent_p.S47S	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	47					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGACCACGGAGACAGAGC	0.652000													83	67					0	0	0.003610	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761585	92761585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:92761585C>T	ENST00000318238.4	-	5	4916	c.3700G>A	c.(3700-3702)Gga>Aga	p.G1234R	SAMD9L_ENST00000411955.1_Missense_Mutation_p.G1234R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G1234R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1234										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCCACTTTCCTGATAAAAAT	0.358000													115	8					0	0	0.003610	0	0
DAB2	1601	broad.mit.edu	37	5	39377034	39377034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:39377034G>A	ENST00000320816.6	-	12	2322	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	DAB2_ENST00000339788.6_Missense_Mutation_p.P401S|DAB2_ENST00000545653.1_Missense_Mutation_p.P598S|DAB2_ENST00000509337.1_Missense_Mutation_p.P598S	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	619					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGCTGAGGAGGAGTGACCAGG	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	101					0	0	0.003610	0	0
GNA12	2768	broad.mit.edu	37	7	2802292	2802292	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:2802292G>A	ENST00000396960.3	-	1	482	c.15C>T	c.(13-15)ctC>ctT	p.L5L	GNA12_ENST00000407904.3_Intron|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000275364.3_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000407653.1_Silent_p.L77L|AMZ1_ENST00000489665.1_Intron			Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	149					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCAGGACGATGAGAGGATAAA	0.532000													9	9					0	0	0.004482	0	0
GALP	85569	broad.mit.edu	37	19	56696612	56696612	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56696612C>T	ENST00000357330.2	+	6	406	c.324C>T	c.(322-324)ccC>ccT	p.P108P	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	108					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGAAAATTCCCAAGGAGGAAG	0.443000													20	15					0	0	0.002780	0	0
MYH7	4625	broad.mit.edu	37	14	23884279	23884279	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23884279G>A	ENST00000355349.3	-	37	5646	c.5484C>T	c.(5482-5484)gcC>gcT	p.A1828A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1828					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTTCTGCTCGGCCTCCAGCT	0.652000													28	152					0	0	0.001786	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424588	31424588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:31424588C>T	ENST00000375571.5	+	4	555	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	139	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GCAGTGGCTCCTTCCCTTGTT	0.438000													38	78					0	0	0.002852	0	0
CROT	54677	broad.mit.edu	37	7	86990850	86990850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:86990850C>T	ENST00000331536.3	+	5	570	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	CROT_ENST00000419147.2_Missense_Mutation_p.L157F|CROT_ENST00000442291.1_Missense_Mutation_p.L129F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	129					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.L129F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGTATAACTCTTTGGCATAA	0.413000													6	72					0	0	0.001168	0	0
HOXD10	3236	broad.mit.edu	37	2	176981967	176981967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:176981967C>T	ENST00000249501.4	+	1	661	c.406C>T	c.(406-408)Cct>Tct	p.P136S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	136						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGGCTGGTCCCTGAGTCTTG	0.493000													48	86					0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71797810	71797810	+	Missense_Mutation	SNP	G	G	A	rs150877497		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71797810G>A	ENST00000258104.3	+	29	3390	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	DYSF_ENST00000409582.3_Missense_Mutation_p.R1055Q|DYSF_ENST00000394120.2_Missense_Mutation_p.R1039Q|DYSF_ENST00000429174.2_Missense_Mutation_p.R1038Q|DYSF_ENST00000409762.1_Missense_Mutation_p.R1055Q|DYSF_ENST00000413539.2_Missense_Mutation_p.R1069Q|DYSF_ENST00000410041.1_Missense_Mutation_p.R1056Q|DYSF_ENST00000410020.3_Missense_Mutation_p.R1056Q|DYSF_ENST00000409744.1_Missense_Mutation_p.R1025Q|DYSF_ENST00000409651.1_Missense_Mutation_p.R1070Q|DYSF_ENST00000409366.1_Missense_Mutation_p.R1039Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1038	Arg-rich.		R -> Q (in LGMD2B; uncertain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACACACACCGACGGCGGCGC	0.642000													7	23					0	0	0.004482	0	0
GPX6	257202	broad.mit.edu	37	6	28472213	28472213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:28472213C>T	ENST00000361902.1	-	5	571	c.522G>A	c.(520-522)atG>atA	p.M174I	GPX6_ENST00000474923.1_Silent_p.*141*	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	174					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CATGGACCTTCATGGGCTCCC	0.498000													13	56					0	0	0.002450	0	0
TEX14	56155	broad.mit.edu	37	17	56643154	56643154	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56643154C>T	ENST00000389934.3	-	28	4155	c.4038G>A	c.(4036-4038)acG>acA	p.T1346T	TEX14_ENST00000240361.8_Silent_p.T1352T|TEX14_ENST00000349033.5_Silent_p.T1306T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1352						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGCAACACCGTGGATGAGC	0.478000													13	9					0	0	0.003163	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437582	190437582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:190437582C>T	ENST00000261024.2	-	4	803	c.377G>A	c.(376-378)gGa>gAa	p.G126E		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	126					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGAACCCATCCATGGTACAT	0.388000													23	25					0	0	0.004656	0	0
LILRB5	10990	broad.mit.edu	37	19	54760538	54760538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54760538C>T	ENST00000450632.1	-	3	246	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LILRB5_ENST00000449561.2_Missense_Mutation_p.E57K|LILRB5_ENST00000345866.6_Missense_Mutation_p.E57K|LILRB5_ENST00000316219.5_Missense_Mutation_p.E57K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	57	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACGGTACTCCTCAGTCTCC	0.627000													35	112					0	0	0.004878	0	0
C7	730	broad.mit.edu	37	5	40931206	40931206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:40931206C>T	ENST00000313164.9	+	3	462	c.103C>T	c.(103-105)Cct>Tct	p.P35S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	35	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTTCTATGCCCCTTGGTCAGA	0.448000													6	27					0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55708105	55708105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55708105C>T	ENST00000376350.3	-	10	2064	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	PTPRH_ENST00000263434.5_Missense_Mutation_p.G503E|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	681	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAAGTTGACTCCATAGCCCGC	0.592000													6	42					0	0	0.001984	0	0
WNK2	65268	broad.mit.edu	37	9	96002178	96002178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96002178G>A	ENST00000297954.4	+	6	1462	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R	WNK2_ENST00000349097.3_Missense_Mutation_p.G100R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G100R|WNK2_ENST00000395477.2_Missense_Mutation_p.G488R|WNK2_ENST00000395475.2_Missense_Mutation_p.G474R			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	488					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAAACTGAAGGGAAAGCCCAA	0.597000													9	4					0	0	0.006214	0	0
ASIC4	55515	broad.mit.edu	37	2	220402443	220402443	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220402443G>A	ENST00000358078.4	+	9	1886	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	ASIC4_ENST00000347842.3_Silent_p.Q605Q			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	605						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGGGGCTTCAGGAGCTGAAGG	0.582000													7	5					0	0	0.004482	0	0
NLRP11	204801	broad.mit.edu	37	19	56321696	56321696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56321696C>T	ENST00000443188.1	-	5	990	c.280G>A	c.(280-282)Gag>Aag	p.E94K	NLRP11_ENST00000360133.3_Missense_Mutation_p.E94K|NLRP11_ENST00000592953.1_5'UTR|NLRP11_ENST00000589824.2_Missense_Mutation_p.E94K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E94K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	94							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGCATGCCTCCTGATTGCCT	0.363000													7	31					0	0	0.006214	0	0
C1orf94	84970	broad.mit.edu	37	1	34677979	34677979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:34677979C>T	ENST00000488417.1	+	6	1813	c.1693C>T	c.(1693-1695)Ccg>Tcg	p.P565S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P375S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	375							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGAGATGGACCGCAGTACCT	0.572000													7	18					0	0	0.004482	0	0
USP40	55230	broad.mit.edu	37	2	234402154	234402154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234402154G>A	ENST00000251722.6	-	25	2948	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	USP40_ENST00000450966.1_Missense_Mutation_p.P956L|USP40_ENST00000427112.2_Missense_Mutation_p.P944L|USP40_ENST00000409945.1_Missense_Mutation_p.P120L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	944					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTGTCCTGAGGGACCCTGAAG	0.498000													6	19					0	0	0.001168	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176598	142176598	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:142176598G>A	ENST00000390369.2	-	0	77																											TGTACCTTGGGGACTGGGAGA	0.483000													5	71					0	0	0.000602	0	0
GLIS1	148979	broad.mit.edu	37	1	54060041	54060041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:54060041G>A	ENST00000312233.2	-	3	1101	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	179					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGCCTCCAAGGCTTGGGCCA	0.687000													11	8					0	0	0.001368	0	0
MKL2	57496	broad.mit.edu	37	16	14345755	14345755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14345755C>T	ENST00000571589.1	+	14	2612	c.2440C>T	c.(2440-2442)Cca>Tca	p.P814S	MKL2_ENST00000574045.1_Missense_Mutation_p.P764S|MKL2_ENST00000318282.5_Missense_Mutation_p.P764S|MKL2_ENST00000341243.5_Missense_Mutation_p.P803S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	803					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACAGTTCTTCCATATCAGAG	0.398000													57	48					0	0	0.003610	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540348	94540348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:94540348C>T	ENST00000289495.5	+	1	1139	c.923C>T	c.(922-924)tCt>tTt	p.S308F	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S308F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S308F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	308						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACTCCACATCTAATCAACAG	0.478000										HNSCC(28;0.073)			25	53					0	0	0.003330	0	0
KLK5	25818	broad.mit.edu	37	19	51452135	51452135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51452135C>T	ENST00000336334.3	-	4	924	c.572G>A	c.(571-573)gGg>gAg	p.G191E	KLK5_ENST00000593428.1_Missense_Mutation_p.G191E|KLK5_ENST00000391809.2_Missense_Mutation_p.G191E	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	191	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTTGGTTGTCCCCCAGCCAGA	0.507000													14	31					0	0	0.003163	0	0
PSD4	23550	broad.mit.edu	37	2	113940778	113940778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:113940778C>T	ENST00000245796.6	+	2	940	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	PSD4_ENST00000441564.2_Missense_Mutation_p.P249S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	249					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCAGCAACCCCCTCTTCCT	0.597000													23	20					0	0	0.002780	0	0
DYSF	8291	broad.mit.edu	37	2	71766337	71766337	+	Missense_Mutation	SNP	C	C	T	rs139258703		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71766337C>T	ENST00000258104.3	+	16	1725	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	DYSF_ENST00000409582.3_Missense_Mutation_p.S514L|DYSF_ENST00000394120.2_Missense_Mutation_p.S484L|DYSF_ENST00000429174.2_Missense_Mutation_p.S483L|DYSF_ENST00000409762.1_Missense_Mutation_p.S514L|DYSF_ENST00000413539.2_Missense_Mutation_p.S514L|DYSF_ENST00000410041.1_Missense_Mutation_p.S515L|DYSF_ENST00000410020.3_Missense_Mutation_p.S515L|DYSF_ENST00000409744.1_Missense_Mutation_p.S484L|DYSF_ENST00000409651.1_Missense_Mutation_p.S515L|DYSF_ENST00000409366.1_Missense_Mutation_p.S484L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	483						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGAGTATGTCGAAAATCTCT	0.552000													18	64					0	0	0.001216	0	0
OR11H6	122748	broad.mit.edu	37	14	20691874	20691874	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20691874C>T	ENST00000315519.2	+	1	84	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F2L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		tccaaatgttctttattattC	0.378000													30	41					0	0	0.001512	0	0
VTCN1	79679	broad.mit.edu	37	1	117753470	117753470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117753470G>A	ENST00000369458.3	-	1	86	c.8C>T	c.(7-9)tCc>tTc	p.S3F	VTCN1_ENST00000328189.3_Missense_Mutation_p.S3F|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	3						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTGCCCCAGGGAAGCCATGGC	0.557000													16	33					0	0	0.004990	0	0
MYOCD	93649	broad.mit.edu	37	17	12655976	12655976	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:12655976G>A	ENST00000425538.1	+	10	1571	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	MYOCD_ENST00000395988.1_Silent_p.P361P|MYOCD_ENST00000343344.4_Silent_p.P457P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	457	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCCCCCCGATCTCCCCAG	0.627000													13	54					0	0	0.003163	0	0
TRMT6	51605	broad.mit.edu	37	20	5923407	5923407	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:5923407G>A	ENST00000203001.2	-	7	823	c.693C>T	c.(691-693)taC>taT	p.Y231Y	TRMT6_ENST00000453074.2_Silent_p.Y61Y|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	231					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTCCTCCAGGGTATAGCTGAA	0.458000													50	15					0	0	0.003610	0	0
C16orf45	89927	broad.mit.edu	37	16	15661910	15661910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:15661910C>T	ENST00000300006.4	+	3	660	c.301C>T	c.(301-303)Cca>Tca	p.P101S	C16orf45_ENST00000566490.1_Missense_Mutation_p.P101S|C16orf45_ENST00000452191.2_Missense_Mutation_p.P84S|C16orf45_ENST00000561692.1_Missense_Mutation_p.P53S	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	101										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGTCGCCATCCCAGGTAACCA	0.557000													8	20					0	0	0.006214	0	0
MDH1B	130752	broad.mit.edu	37	2	207619767	207619767	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:207619767G>A	ENST00000374412.3	-	5	1151	c.876C>T	c.(874-876)gcC>gcT	p.A292A	MDH1B_ENST00000449792.1_Silent_p.A194A|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.A292A	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	292					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGGCCAGTATGGCTTTCGCTT	0.423000													17	25					0	0	0.004007	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207914	140207914	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140207914C>A	ENST00000529310.1	+	1	352	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.Q80K|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAAATCTGCAGAATGGCAT	0.632000													29	238					7.61001e-30	1.24297e-29	0.005524	1	0
KRT12	3859	broad.mit.edu	37	17	39019775	39019775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39019775G>A	ENST00000251643.4	-	5	1080	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	353	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TCCAGGTTCTGAAAGGCGCGA	0.557000													11	61					0	0	0.000673	0	0
ABCA8	10351	broad.mit.edu	37	17	66928584	66928584	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:66928584G>A	ENST00000269080.2	-	6	779	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCA8_ENST00000430352.2_Silent_p.F214F|ABCA8_ENST00000586539.1_Silent_p.F214F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTGACCAATGAAGGAATGCA	0.338000													18	88					0	0	0.001523	0	0
MXRA5	25878	broad.mit.edu	37	X	3235716	3235716	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:3235716G>A	ENST00000217939.6	-	6	6160	c.6006C>T	c.(6004-6006)atC>atT	p.I2002I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2002	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGCAGGGTGATGCGGCCCT	0.612000													10	19					0	0	0.001368	0	0
LPA	4018	broad.mit.edu	37	6	161006211	161006211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:161006211G>A	ENST00000447678.1	-	27	4276	c.4156C>T	c.(4156-4158)Cag>Tag	p.Q1386*	LPA_ENST00000316300.5_Nonsense_Mutation_p.Q1386*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3894	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCAGTCCTGGACCCCAGTG	0.433000													86	21					0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57164435	57164435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:57164435C>T	ENST00000504228.1	+	2	145	c.40C>T	c.(40-42)Cct>Tct	p.P14S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P14S|KIAA1211_ENST00000541073.1_5'UTR			Q6ZU35	K1211_HUMAN	KIAA1211	14										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TATTTTTATCCCTGATGGGGG	0.428000													11	21					0	0	0.000673	0	0
OR51B4	79339	broad.mit.edu	37	11	5322912	5322912	+	Missense_Mutation	SNP	C	C	T	rs150447535	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:5322912C>T	ENST00000380224.1	-	1	314	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCAATCTCCCTCTGGTCT	0.502000													37	7					0	0	0.006230	0	0
TAF1C	9013	broad.mit.edu	37	16	84215990	84215990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84215990G>A	ENST00000567759.1	-	7	721	c.539C>T	c.(538-540)cCc>cTc	p.P180L	TAF1C_ENST00000541676.1_Missense_Mutation_p.P113L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P180L|TAF1C_ENST00000341690.6_Missense_Mutation_p.P113L|TAF1C_ENST00000566732.1_Missense_Mutation_p.P180L|TAF1C_ENST00000570117.1_5'UTR	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	180					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCCAGGATGGGGCCCCCGAG	0.657000													3	5					0	0	0.004672	0	0
ZNF536	9745	broad.mit.edu	37	19	30934682	30934682	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:30934682C>T	ENST00000355537.3	+	2	360	c.213C>T	c.(211-213)ccC>ccT	p.P71P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCACGTGCCCATGAGCGGCC	0.682000													19	16					0	0	0.001523	0	0
ZNF606	80095	broad.mit.edu	37	19	58489985	58489985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58489985G>A	ENST00000341164.4	-	7	2683	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S598F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTAAAGGATCTTTCACA	0.403000													46	24					0	0	0.003214	0	0
AGR2	10551	broad.mit.edu	37	7	16832568	16832568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:16832568C>T	ENST00000419304.2	-	8	644	c.492G>A	c.(490-492)atG>atA	p.M164I	AGR2_ENST00000419572.2_Missense_Mutation_p.M184I	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	164					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGCTTTCTTCATGTTGTCAA	0.408000													11	89					0	0	0.001855	0	0
OR2L2	26246	broad.mit.edu	37	1	248201930	248201930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248201930C>T	ENST00000366479.2	+	1	457	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTATGTGGC	0.428000													29	93					0	0	0.001786	0	0
LRBA	987	broad.mit.edu	37	4	151271219	151271219	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:151271219G>A	ENST00000535741.1	-	48	7760	c.7287C>T	c.(7285-7287)gcC>gcT	p.A2429A	LRBA_ENST00000357115.3_Silent_p.A2440A|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Silent_p.A2429A|LRBA_ENST00000507224.1_Silent_p.A2429A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2440	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACACATTGAGGGCTCGGACAG	0.418000													27	22					0	0	0.005443	0	0
URGCP	55665	broad.mit.edu	37	7	43917086	43917086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:43917086G>A	ENST00000336086.6	-	4	4083	c.1847C>T	c.(1846-1848)cCt>cTt	p.P616L	URGCP_ENST00000443736.1_Missense_Mutation_p.P616L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.P616L|URGCP_ENST00000402306.3_Missense_Mutation_p.P650L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.P659L|URGCP_ENST00000447717.3_Missense_Mutation_p.P616L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	659					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGCTCCAGAGGCAGCCCTGT	0.652000													41	12					0	0	0.006999	0	0
TNXB	7148	broad.mit.edu	37	6	32016313	32016313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32016313G>A	ENST00000375244.3	-	29	10073	c.9872C>T	c.(9871-9873)tCc>tTc	p.S3291F	TNXB_ENST00000375247.2_Missense_Mutation_p.S3289F			P22105	TENX_HUMAN	tenascin XB	3336	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TACCAGGAAGGAGTCAAAGGG	0.731000													41	349					0	0	0.003214	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966606	58966606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58966606C>T	ENST00000391696.1	+	3	1197	c.265C>T	c.(265-267)Cca>Tca	p.P89S	ZNF324B_ENST00000336614.4_Missense_Mutation_p.P99S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.P99S			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACGAGCTTTCCCAGATACCCC	0.552000													77	77					0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49168257	49168257	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49168257C>A	ENST00000418109.1	-	9	1116	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C	LAMB2_ENST00000305544.4_Missense_Mutation_p.G318C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	318	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGAGGCCACGTGTGTTG	0.582000													37	95					2.6416e-12	4.28938e-12	0.006230	1	0
CSMD1	64478	broad.mit.edu	37	8	3009022	3009022	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:3009022C>T	ENST00000520002.1	-	41	6486	c.5931G>A	c.(5929-5931)ggG>ggA	p.G1977G	CSMD1_ENST00000400186.3_Silent_p.G1977G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.G1977G|CSMD1_ENST00000539096.1_Silent_p.G1976G|CSMD1_ENST00000602557.1_Silent_p.G1977G|CSMD1_ENST00000537824.1_Silent_p.G1976G|CSMD1_ENST00000542608.1_Silent_p.G1976G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1977	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTCAGCGTCCCTCCACAGG	0.537000													6	1					0	0	0.003080	0	0
C2orf83	56918	broad.mit.edu	37	2	228476116	228476116	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228476116C>T	ENST00000264387.4	-	3	533	c.447G>A	c.(445-447)ggG>ggA	p.G149G	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	149						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GAAGCTAGTTCCCCTGAAACC	0.473000													25	46					0	0	0.001786	0	0
FAT4	79633	broad.mit.edu	37	4	126411466	126411466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:126411466G>A	ENST00000394329.3	+	17	13502	c.13489G>A	c.(13489-13491)Gag>Aag	p.E4497K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCCCTGAAGAGATCTCTCT	0.602000													16	38					0	0	0.006122	0	0
NUP85	79902	broad.mit.edu	37	17	73214293	73214293	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:73214293C>T	ENST00000245544.4	+	7	560	c.489C>T	c.(487-489)ctC>ctT	p.L163L	NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Silent_p.L117L|NUP85_ENST00000579324.1_Silent_p.L51L|NUP85_ENST00000579298.1_Silent_p.L163L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	163					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCCCTCTCCTCCTCCATCTCC	0.522000													16	57					0	0	0.004007	0	0
SCN9A	6335	broad.mit.edu	37	2	167168250	167168250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167168250G>A	ENST00000375387.4	-	2	357	c.17C>T	c.(16-18)cCc>cTc	p.P6L	SCN9A_ENST00000409435.1_Missense_Mutation_p.P6L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P6L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P6L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	6						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGTCCTGGGGGAGGCAACAT	0.403000													19	35					0	0	0.001882	0	0
FAM186B	84070	broad.mit.edu	37	12	49994667	49994667	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49994667C>T	ENST00000544141.1	-	4	1085	c.486G>A	c.(484-486)aaG>aaA	p.K162K	FAM186B_ENST00000257894.2_Silent_p.K252K|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	252						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTGTTCTCCTTGTGTTGGA	0.562000													12	79					0	0	0.001855	0	0
FAM83C	128876	broad.mit.edu	37	20	33874493	33874493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:33874493C>T	ENST00000374408.3	-	4	2185	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	697										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCAGGCTCAGTTCCCTGC	0.587000													48	111					0	0	0.003610	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41320445	41320445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41320445C>T	ENST00000357137.4	+	9	1400	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S416F	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	439					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGCCCCGTTCCCTCCCTCTG	0.458000													22	84					0	0	0.003954	0	0
KIF20B	9585	broad.mit.edu	37	10	91497753	91497753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:91497753C>T	ENST00000416354.1	+	20	3317	c.3245C>T	c.(3244-3246)tCt>tTt	p.S1082F	KIF20B_ENST00000260753.4_Missense_Mutation_p.S1012F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1052F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1052F|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1052					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGGAAAATTCTTTCCACTCT	0.333000													40	75					0	0	0.003214	0	0
COL6A5	256076	broad.mit.edu	37	3	130188179	130188179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:130188179C>T	ENST00000265379.6	+	38	7825	c.7331C>T	c.(7330-7332)tCc>tTc	p.S2444F	COL6A5_ENST00000432398.2_Missense_Mutation_p.S2444F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2444	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTGTTTTCCTTTGGCCCT	0.443000													25	8					0	0	0.003954	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576726	149576726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149576726C>T	ENST00000421974.2	+	3	1553	c.602C>T	c.(601-603)cCt>cTt	p.P201L	ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.P152L|ATP6V0E2_ENST00000425642.2_3'UTR|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.P175L	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GGGTCTTTCCCTTTACAGACG	0.632000													19	2					0	0	0.001216	0	0
COL11A2	1302	broad.mit.edu	37	6	33156922	33156922	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33156922G>A	ENST00000341947.2	-	3	503	c.276C>T	c.(274-276)acC>acT	p.T92T	COL11A2_ENST00000374712.1_Silent_p.T92T|COL11A2_ENST00000361917.1_Silent_p.T92T|COL11A2_ENST00000357486.1_Silent_p.T92T|COL11A2_ENST00000374714.1_Silent_p.T92T|COL11A2_ENST00000395194.1_Silent_p.T92T|COL11A2_ENST00000374713.1_Silent_p.T92T|COL11A2_ENST00000374708.4_Silent_p.T92T|COL11A2_ENST00000395197.1_Silent_p.T92T	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	92	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACCAGGGCGGGTCCGGACAA	0.592000													33	53					0	0	0.002445	0	0
QSOX1	5768	broad.mit.edu	37	1	180163365	180163365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:180163365C>T	ENST00000367602.3	+	11	1380	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	QSOX1_ENST00000367600.5_Missense_Mutation_p.L436F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	436	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAAGGAGGTCCTCCCAGCCAT	0.672000													6	26					0	0	0.001168	0	0
TRPM8	79054	broad.mit.edu	37	2	234894424	234894424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234894424C>T	ENST00000324695.4	+	21	2894	c.2854C>T	c.(2854-2856)Ccc>Tcc	p.P952S	TRPM8_ENST00000433712.2_Missense_Mutation_p.P530S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	952						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCCCGGTTCCCCGAGTGGAT	0.547000													13	29					0	0	0.001368	0	0
MCPH1	79648	broad.mit.edu	37	8	6338321	6338321	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:6338321T>A	ENST00000344683.5	+	11	2136	c.2060T>A	c.(2059-2061)cTt>cAt	p.L687H		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	687	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACTCACGTGCTTTCCGGGAAG	0.517000													17	11					0	0	0.006122	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916612	86916612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:86916612C>T	ENST00000395184.1	+	9	2271	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.S509F|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.S507F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	602					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GACGACCTTTCCCACCCCAGG	0.552000													19	29					0	0	0.007413	0	0
HNF4G	3174	broad.mit.edu	37	8	76470903	76470903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:76470903C>T	ENST00000396423.2	+	7	978	c.854C>T	c.(853-855)cCa>cTa	p.P285L	HNF4G_ENST00000354370.1_Missense_Mutation_p.P248L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	248					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P285Q(1)|p.P248Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTTTGATCCAGGTTGGTTT	0.303000													46	58					0	0	0.003610	0	0
ZNF638	27332	broad.mit.edu	37	2	71576164	71576164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:71576164C>T	ENST00000409544.1	+	2	710	c.80C>T	c.(79-81)cCt>cTt	p.P27L	ZNF638_ENST00000377802.2_Missense_Mutation_p.P27L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.P27L|ZNF638_ENST00000264447.4_Missense_Mutation_p.P27L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	27					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGGATGAGGCCTCCAGGACCA	0.507000													16	79					0	0	0.003163	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73075268	73075268	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73075268C>T	ENST00000263674.3	+	17	5735	c.5385C>T	c.(5383-5385)gtC>gtT	p.V1795V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1795					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTTGTGGTCTACCAAAGGG	0.552000													50	134					0	0	0.003610	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610393	47610393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:47610393G>A	ENST00000371891.3	+	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D357N|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	357						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCTGGGTGATGGAGCCTC	0.622000													7	17					0	0	0.001984	0	0
C2orf71	388939	broad.mit.edu	37	2	29295648	29295648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29295648C>T	ENST00000331664.5	-	1	1479	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	494					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTTTGTCTTCCTCCTCCTCC	0.537000													72	51					0	0	0.003610	0	0
VWCE	220001	broad.mit.edu	37	11	61058815	61058815	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:61058815G>A	ENST00000335613.5	-	3	602	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	72	EGF-like 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGCCGAAGGAGCAGAGGG	0.642000													13	10					0	0	0.001855	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45712031	45712031	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:45712031G>A	ENST00000310806.4	-	3	1049	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	197					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGACCGGGAGGAAAATATCAT	0.338000													27	53					0	0	0.001786	0	0
KRT83	3889	broad.mit.edu	37	12	52709692	52709692	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52709692T>C	ENST00000293670.3	-	7	1309	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	416	Coil 2.|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)		CTCCTCGCCCTCCAGCAGGCG	0.577000													71	39					0	0	0.003610	0	0
HTR6	3362	broad.mit.edu	37	1	20005188	20005188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20005188G>A	ENST00000289753.1	+	2	1310	c.843G>A	c.(841-843)tgG>tgA	p.W281*		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	281					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTGTGACCTGGTTGCCCTTCT	0.622000													10	8					0	0	0.000978	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567805	99567805	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:99567805C>T	ENST00000331335.5	-	5	3185	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	FILIP1L_ENST00000354552.3_Silent_p.K905K|FILIP1L_ENST00000487087.1_Silent_p.K481K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Silent_p.K665K|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.K665K	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	905						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGAGTAACCTTTATATGAA	0.448000													133	81					0	0	0.003610	0	0
M1AP	130951	broad.mit.edu	37	2	74842119	74842119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74842119C>T	ENST00000290536.5	-	3	514	c.398G>A	c.(397-399)aGg>aAg	p.R133K	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.R133K|M1AP_ENST00000536235.1_Missense_Mutation_p.R133K	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CAGAGCTGCCCTTGTGGTCAC	0.493000													19	55					0	0	0.001216	0	0
KHDC1	80759	broad.mit.edu	37	6	73952130	73952130	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:73952130G>A	ENST00000423730.3	-	2	546	c.112_splice	c.e2+1	p.F37_splice	KHDC1_ENST00000257765.5_Splice_Site_p.F37_splice|KHDC1_ENST00000370384.3_Splice_Site_p.F110_splice																							GCCACTCACCGAAGATGAGCT	0.522000													16	20					0	0	0.006122	0	0
PFKFB1	5207	broad.mit.edu	37	X	54982606	54982606	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:54982606G>A	ENST00000375006.3	-	7	688	c.618C>T	c.(616-618)ccC>ccT	p.P206P	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.P141P	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	206	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						cctcATCCAAGGGTTGGTAGT	0.438000													17	21					0	0	0.006122	0	0
DOCK1	1793	broad.mit.edu	37	10	129160391	129160391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129160391C>T	ENST00000280333.6	+	33	3393	c.3284C>T	c.(3283-3285)cCc>cTc	p.P1095L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1095					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACATTAATTCCCGAGACGGAG	0.413000													4	17					0	0	0.000602	0	0
CACNG7	59284	broad.mit.edu	37	19	54444867	54444867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54444867G>A	ENST00000391767.1	+	5	780	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CACNG7_ENST00000391766.1_Missense_Mutation_p.E190K|CACNG7_ENST00000222212.2_Missense_Mutation_p.E190K			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTACTCAAAGAGGTGACGTC	0.552000													27	88					0	0	0.007291	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182667	140182667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140182667G>A	ENST00000522353.2	+	1	1885	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629R|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTACACGGGAGAGATCAG	0.657000													22	54					0	0	0.002780	0	0
CYP26A1	1592	broad.mit.edu	37	10	94837052	94837052	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:94837052G>A	ENST00000371531.1	+	7	1656	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	CYP26A1_ENST00000394139.1_Silent_p.G426G|CYP26A1_ENST00000224356.4_Silent_p.G495G	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	495					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATTTCCATGGGGAAATCTGAT	0.393000													11	36					0	0	0.000673	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196577	58196577	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58196577C>T	ENST00000483681.1	-	3	638	c.57G>A	c.(55-57)ctG>ctA	p.L19L	DNASE1L3_ENST00000486455.1_Silent_p.L19L|DNASE1L3_ENST00000318316.3_Silent_p.L19L|DNASE1L3_ENST00000394549.2_Silent_p.L19L			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	19			L -> V (in a breast cancer sample; somatic mutation).		apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCTCATGGCCAGGGCGCTGT	0.567000													25	56					0	0	0.003954	0	0
DIP2C	22982	broad.mit.edu	37	10	465055	465055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:465055G>A	ENST00000280886.6	-	6	776	c.689C>T	c.(688-690)tCc>tTc	p.S230F	DIP2C_ENST00000381496.3_Missense_Mutation_p.S123F	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	230						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCTGTCCGGGACCCCGTGGA	0.542000													14	13					0	0	0.003163	0	0
CDH18	1016	broad.mit.edu	37	5	19839093	19839093	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:19839093C>T	ENST00000507958.1	-	5	993	c.3G>A	c.(1-3)atG>atA	p.M1I	CDH18_ENST00000274170.4_Start_Codon_SNP_p.M1I|CDH18_ENST00000506372.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000382275.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000502796.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000511273.1_Start_Codon_SNP_p.M1I			Q13634	CAD18_HUMAN	cadherin 18, type 2	1					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAGTAATTTTCATTGTAAGAT	0.428000													32	12					0	0	0.002836	0	0
GORASP2	26003	broad.mit.edu	37	2	171804879	171804879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:171804879G>A	ENST00000234160.4	+	2	898	c.83G>A	c.(82-84)gGa>gAa	p.G28E	GORASP2_ENST00000452526.2_Missense_Mutation_p.G40E|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	28	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AATTCCCCAGGACACAGAGCT	0.323000													14	24					0	0	0.006122	0	0
GPR98	84059	broad.mit.edu	37	5	90106148	90106148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:90106148G>A	ENST00000405460.2	+	74	15167	c.15071G>A	c.(15070-15072)aGa>aAa	p.R5024K	GPR98_ENST00000425867.2_Missense_Mutation_p.R685K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5024					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)		CAGATGATCAGATTACATGTA	0.403000													23	9					0	0	0.002780	0	0
LAMA3	3909	broad.mit.edu	37	18	21441693	21441693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:21441693G>A	ENST00000313654.9	+	35	4747	c.4506G>A	c.(4504-4506)atG>atA	p.M1502I	LAMA3_ENST00000399516.3_Missense_Mutation_p.M1502I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1502	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAACAGTATGGTGGCGGATC	0.577000													18	14					0	0	0.006122	0	0
COL7A1	1294	broad.mit.edu	37	3	48627128	48627128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:48627128C>T	ENST00000328333.8	-	16	2181	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I	COL7A1_ENST00000454817.1_Missense_Mutation_p.V692I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	692	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACATGGACCGTCCTCACT	0.602000													37	25					0	0	0.002222	0	0
C2orf16	84226	broad.mit.edu	37	2	27802602	27802602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27802602G>A	ENST00000408964.2	+	1	3214	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1055										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCACAGAGTGATTCCCAGAC	0.463000													34	84					0	0	0.004289	0	0
NFASC	23114	broad.mit.edu	37	1	204923977	204923977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:204923977G>A	ENST00000367172.4	+	7	761	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	NFASC_ENST00000367171.4_Missense_Mutation_p.E145K|NFASC_ENST00000404076.1_Missense_Mutation_p.E139K|NFASC_ENST00000338586.6_Missense_Mutation_p.E145K|NFASC_ENST00000339876.6_Missense_Mutation_p.E145K|NFASC_ENST00000404907.1_Missense_Mutation_p.E139K|NFASC_ENST00000367170.4_Missense_Mutation_p.E145K|NFASC_ENST00000403080.1_Missense_Mutation_p.E145K|NFASC_ENST00000513543.1_Missense_Mutation_p.E139K|NFASC_ENST00000367169.4_Missense_Mutation_p.E145K|NFASC_ENST00000401399.1_Missense_Mutation_p.E145K|NFASC_ENST00000338515.6_Missense_Mutation_p.E145K|NFASC_ENST00000539706.1_Missense_Mutation_p.E139K|NFASC_ENST00000360049.4_Missense_Mutation_p.E139K			O94856	NFASC_HUMAN	neurofascin	145	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGCCCAAGGAAAACCTAGA	0.597000													35	140					0	0	0.005524	0	0
VPS13A	23230	broad.mit.edu	37	9	79959074	79959074	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79959074C>T	ENST00000360280.3	+	51	7292	c.7032C>T	c.(7030-7032)atC>atT	p.I2344I	VPS13A_ENST00000376636.3_Silent_p.I2305I|VPS13A_ENST00000376634.4_Silent_p.I2344I|VPS13A_ENST00000357409.5_Silent_p.I2344I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2344					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAGTGTATCCCCTTTTGGC	0.284000													12	26					0	0	0.001368	0	0
ETV1	2115	broad.mit.edu	37	7	13971235	13971235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:13971235G>A	ENST00000343495.5	-	8	1378	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	ETV1_ENST00000405218.2_Missense_Mutation_p.H232Y|ETV1_ENST00000403527.1_Missense_Mutation_p.H192Y|ETV1_ENST00000420159.2_Missense_Mutation_p.H174Y|ETV1_ENST00000405192.2_Missense_Mutation_p.H232Y|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.H246Y|ETV1_ENST00000430479.1_Missense_Mutation_p.H232Y|ETV1_ENST00000403685.1_Missense_Mutation_p.H214Y|ETV1_ENST00000242066.5_Missense_Mutation_p.H214Y|ETV1_ENST00000399357.3_Missense_Mutation_p.H129Y			P50549	ETV1_HUMAN	ets variant 1	232					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACTGGGTCGTGGTACTCCTGC	0.522000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								45	25					0	0	0.003610	0	0
FLT4	2324	broad.mit.edu	37	5	180048672	180048672	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:180048672C>T	ENST00000261937.6	-	13	1968	c.1890G>A	c.(1888-1890)ggG>ggA	p.G630G	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.G630G|FLT4_ENST00000502649.1_Silent_p.G630G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	630	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGCGCGCCCCAGGTGCCA	0.682000													17	11					0	0	0.006122	0	0
MTMR8	55613	broad.mit.edu	37	X	63563500	63563500	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:63563500G>A	ENST00000374852.3	-	8	1033	c.966C>T	c.(964-966)ttC>ttT	p.F322F	MTMR8_ENST00000453546.1_Silent_p.F322F|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	322	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTTTGTAATGAAAATTCCAG	0.348000													12	0					0	0	0.003163	0	0
GRIA3	2892	broad.mit.edu	37	X	122551351	122551351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:122551351G>A	ENST00000264357.5	+	11	1891	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	GRIA3_ENST00000542149.1_Missense_Mutation_p.M533I|GRIA3_ENST00000371251.1_Missense_Mutation_p.M533I|GRIA3_ENST00000541091.1_Missense_Mutation_p.M517I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M533I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	533					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTCCATCATGATAAAGAAGC	0.423000													71	74					0	0	0.003610	0	0
LRP10	26020	broad.mit.edu	37	14	23345251	23345251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23345251C>T	ENST00000359591.4	+	5	1785	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	LRP10_ENST00000546834.1_Missense_Mutation_p.A365V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	365	LDL-receptor class A 3.			A -> T (in Ref. 8).	endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCCTGTGGGGCTGCTGGCACC	0.617000													5	14					0	0	0.000602	0	0
NBEA	26960	broad.mit.edu	37	13	36124641	36124641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:36124641G>A	ENST00000540320.1	+	42	7147	c.6613G>A	c.(6613-6615)Gga>Aga	p.G2205R	NBEA_ENST00000400445.3_Missense_Mutation_p.G2205R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2202R|NBEA_ENST00000310336.4_Missense_Mutation_p.G2205R|NBEA_ENST00000537702.1_5'UTR			Q8NFP9	NBEA_HUMAN	neurobeachin	2205						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGACTTCACGGAAAATGGAT	0.373000													10	26					0	0	0.001368	0	0
DGKB	1607	broad.mit.edu	37	7	14378178	14378178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:14378178G>A	ENST00000403951.2	-	23	2506	c.2087C>T	c.(2086-2088)aCc>aTc	p.T696I	DGKB_ENST00000399322.3_Missense_Mutation_p.T696I|DGKB_ENST00000402815.1_Missense_Mutation_p.T695I|DGKB_ENST00000258767.5_Missense_Mutation_p.T696I|DGKB_ENST00000406247.3_Missense_Mutation_p.T696I|DGKB_ENST00000407950.1_Missense_Mutation_p.T688I|DGKB_ENST00000444700.2_Missense_Mutation_p.T677I|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCTGTGACGGTGGTCCTTTT	0.393000													136	99					0	0	0.003610	0	0
GABRB3	2562	broad.mit.edu	37	15	26793153	26793153	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:26793153C>T	ENST00000541819.2	-	10	1479	c.1377G>A	c.(1375-1377)agG>agA	p.R459R	GABRB3_ENST00000545868.1_Silent_p.R318R|GABRB3_ENST00000311550.5_Silent_p.R403R|GABRB3_ENST00000299267.4_Silent_p.R403R|GABRB3_ENST00000400188.3_Silent_p.R332R			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	403					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTCTGTTTCCTGTACTGGA	0.512000													33	32					0	0	0.003755	0	0
CD2	914	broad.mit.edu	37	1	117307122	117307122	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:117307122C>G	ENST00000369478.3	+	4	738	c.630C>G	c.(628-630)atC>atG	p.I210M		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	210					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GTCTGGACATCTATCTCATCA	0.507000													17	27					0	0	0.001523	0	0
NPY5R	4889	broad.mit.edu	37	4	164271429	164271429	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:164271429G>T	ENST00000515560.1	+	4	1526	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	NPY5R_ENST00000338566.3_Missense_Mutation_p.D2Y|NPY5R_ENST00000506953.1_Missense_Mutation_p.D2Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	2					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTATAATATGGATTTAGAGCT	0.348000													13	27					7.03913e-09	1.13939e-08	0.001368	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46056265	46056265	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46056265C>G	ENST00000536708.2	+	11	1243	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L	CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.F353L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	353					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGAATCAGTTCCTTGATGAGC	0.557000											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	54					0	0	0.005524	0	0
LAD1	3898	broad.mit.edu	37	1	201356245	201356245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201356245C>T	ENST00000391967.2	-	3	545	c.244G>A	c.(244-246)Gac>Aac	p.D82N	LAD1_ENST00000367313.3_Missense_Mutation_p.D96N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	82						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ATGTCCTCGTCCTCATCTTTG	0.612000													53	28					0	0	0.003610	0	0
TOP3A	7156	broad.mit.edu	37	17	18196150	18196150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:18196150G>A	ENST00000321105.5	-	11	1304	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	TOP3A_ENST00000542570.1_Nonsense_Mutation_p.R269*|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	364					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTTCTGTTCGGGGATAGCTG	0.468000													18	42					0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4920691	4920691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920691G>A	ENST00000433855.1	+	1	2350	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	KCNA6_ENST00000280684.3_Missense_Mutation_p.G495E	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	495						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACTGACAACGGACTTGGCAAG	0.592000										HNSCC(72;0.22)			8	35					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196602810	196602810	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:196602810C>T	ENST00000312428.6	-	65	12010	c.11910G>A	c.(11908-11910)cgG>cgA	p.R3970R	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.R453R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3970					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATAACTTGGCCGTTTTGGTA	0.428000													7	23					0	0	0.004482	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433642	67433642	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:67433642C>T	ENST00000349015.3	-	6	708	c.270G>A	c.(268-270)caG>caA	p.Q90Q	ALDH3B2_ENST00000530069.1_Silent_p.Q90Q	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	90					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GCCCTGTCTCCTGGGGTCCGC	0.657000													27	63					0	0	0.002445	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798671	203798671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203798671C>T	ENST00000545588.1	+	5	4218	c.391C>T	c.(391-393)Cct>Tct	p.P131S	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P131S|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P131S|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P131S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P131S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	131							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGTCCAATCCTTCCCCTCA	0.483000													25	113					0	0	0.003954	0	0
VWF	7450	broad.mit.edu	37	12	6103062	6103062	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6103062C>T	ENST00000261405.5	-	37	6818	c.6564G>A	c.(6562-6564)ggG>ggA	p.G2188G		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2188					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAACGCAGACCCCGTTGGTCC	0.552000													4	41					0	0	0.000602	0	0
ACAP2	23527	broad.mit.edu	37	3	195063202	195063202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:195063202G>A	ENST00000326793.6	-	6	756	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	176	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTATATACCTGAAGCACATAA	0.368000													12	41					0	0	0.001368	0	0
RASL12	51285	broad.mit.edu	37	15	65351754	65351754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65351754C>T	ENST00000220062.4	-	3	439	c.163G>A	c.(163-165)Gac>Aac	p.D55N	RASL12_ENST00000434605.2_Missense_Mutation_p.D44N|RASL12_ENST00000421977.3_Missense_Mutation_p.D36N	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	55					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CTGTAGGTGTCCTCTACAACA	0.552000													17	70					0	0	0.001882	0	0
PRDM9	56979	broad.mit.edu	37	5	23527689	23527689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:23527689C>T	ENST00000296682.3	+	11	2674	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	831					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCCCTATGTCTGC	0.587000										HNSCC(3;0.000094)			27	99					0	0	0.007291	0	0
ACACA	31	broad.mit.edu	37	17	35620782	35620782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:35620782G>A	ENST00000353139.5	-	11	1616	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ACACA_ENST00000394406.2_Missense_Mutation_p.P342S|ACACA_ENST00000335166.5_Missense_Mutation_p.P264S|ACACA_ENST00000360679.3_Missense_Mutation_p.P284S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	342	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGAGATCCAGGAACTTCAGCT	0.363000													21	80					0	0	0.001523	0	0
FLT3LG	2323	broad.mit.edu	37	19	49983820	49983820	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49983820C>T	ENST00000595510.1	+	7	727	c.426C>T	c.(424-426)gtC>gtT	p.V142V	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Silent_p.V206V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Silent_p.V224V|FLT3LG_ENST00000204637.2_Silent_p.V142V|FLT3LG_ENST00000597551.1_Silent_p.V224V|FLT3LG_ENST00000600429.1_Silent_p.V224V			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	224					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TGCCCCCCGTCCCCAGTCCCC	0.667000													3	10					0	0	0.000248	0	0
C2CD3	26005	broad.mit.edu	37	11	73785570	73785570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:73785570G>A	ENST00000334126.7	-	24	4905	c.4679C>T	c.(4678-4680)tCt>tTt	p.S1560F	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1560F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1560						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGAGGAAAGAGAGGAAAGAAC	0.507000													9	15					0	0	0.000673	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971908	54971908	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:54971908G>A	ENST00000375006.3	-	10	1132	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	PFKFB1_ENST00000374992.2_Silent_p.D154D|PFKFB1_ENST00000545676.1_Silent_p.D289D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	354	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATTTATCTTGGTCTCGCAGTG	0.478000													9	18					0	0	0.000673	0	0
ITIH1	3697	broad.mit.edu	37	3	52816259	52816259	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52816259C>T	ENST00000273283.2	+	8	930	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ITIH1_ENST00000542827.1_Silent_p.S302S|ITIH1_ENST00000540715.1_Silent_p.S160S|ITIH1_ENST00000537050.1_Silent_p.S14S|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	302	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCAGTGGCTCCATGAGAGGCC	0.498000													18	25					0	0	0.006122	0	0
UROC1	131669	broad.mit.edu	37	3	126226630	126226630	+	Missense_Mutation	SNP	G	G	A	rs116272550	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126226630G>A	ENST00000290868.2	-	6	610	c.557C>T	c.(556-558)tCc>tTc	p.S186F	UROC1_ENST00000383579.3_Missense_Mutation_p.S186F	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	186					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTCCGGGAGGAGTAGTTGGG	0.557000													24	55					0	0	0.001786	0	0
OR1S2	219958	broad.mit.edu	37	11	57970737	57970737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:57970737C>T	ENST00000302592.6	-	1	916	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ATCCTTATTCCTCAAGCTGTA	0.438000													71	56					0	0	0.003610	0	0
PPFIA4	8497	broad.mit.edu	37	1	203028942	203028942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:203028942C>T	ENST00000367240.2	+	20	3010	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V	PPFIA4_ENST00000272198.6_Missense_Mutation_p.A343V|PPFIA4_ENST00000295706.4_Missense_Mutation_p.A343V|PPFIA4_ENST00000447715.2_Missense_Mutation_p.A827V|PPFIA4_ENST00000414050.2_Missense_Mutation_p.A556V|PPFIA4_ENST00000599966.1_Missense_Mutation_p.A343V			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	343					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGCCCTTTGCCCAGTGGGAT	0.537000													11	25					0	0	0.000673	0	0
HELB	92797	broad.mit.edu	37	12	66707833	66707833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:66707833C>T	ENST00000247815.4	+	5	1807	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	583					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAATTTTCTTCGGTTAGAGTT	0.378000													36	311					0	0	0.004878	0	0
FAM47B	170062	broad.mit.edu	37	X	34962641	34962641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34962641G>A	ENST00000329357.5	+	1	1729	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	565										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGAAGTGATGAACCTTTGAT	0.478000													35	61					0	0	0.004289	0	0
BMS1	9790	broad.mit.edu	37	10	43285863	43285863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43285863G>A	ENST00000374518.4	+	5	603	c.540G>A	c.(538-540)atG>atA	p.M180I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	180					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAAAATTATGGGAGTTCTCA	0.413000													19	51					0	0	0.003954	0	0
MMP19	4327	broad.mit.edu	37	12	56232377	56232377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56232377G>A	ENST00000409200.3	-	5	767	c.662C>T	c.(661-663)cCc>cTc	p.P221L	MMP19_ENST00000322569.4_Intron|MMP19_ENST00000548629.1_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	0					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGCCTGGAGGGGAGGGGCCTC	0.612000													15	131					0	0	0.004007	0	0
MYH7	4625	broad.mit.edu	37	14	23883043	23883043	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23883043C>T	ENST00000355349.3	-	39	5877	c.5715G>A	c.(5713-5715)gaG>gaA	p.E1905E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1905					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCTCTGCCTCATCCAGCT	0.627000													41	54					0	0	0.003610	0	0
SALL3	27164	broad.mit.edu	37	18	76754300	76754300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:76754300C>T	ENST00000536229.3	+	1	2619	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	SALL3_ENST00000537592.2_Missense_Mutation_p.P770L|SALL3_ENST00000575389.2_Missense_Mutation_p.P770L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAACACGCCGCTGCCGGAG	0.627000													6	27					0	0	0.001984	0	0
PHF12	57649	broad.mit.edu	37	17	27233293	27233293	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27233293C>A	ENST00000332830.4	-	15	3733	c.2923G>T	c.(2923-2925)Gat>Tat	p.D975Y	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	975					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGCTGGCATCGCCTTTGGGC	0.597000													20	15					3.5997e-14	5.85083e-14	0.002299	1	0
CALCR	799	broad.mit.edu	37	7	93055756	93055756	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:93055756T>A	ENST00000359558.2	-	16	1738	c.1439A>T	c.(1438-1440)gAg>gTg	p.E480V	CALCR_ENST00000421592.1_Missense_Mutation_p.E462V|CALCR_ENST00000360249.4_Missense_Mutation_p.E462V|CALCR_ENST00000426151.1_Missense_Mutation_p.E446V|CALCR_ENST00000394441.1_Missense_Mutation_p.E446V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	462					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATTCCTCAGCTCCTGATGGCA	0.557000													43	156					0	0	0.003610	0	0
CD274	29126	broad.mit.edu	37	9	5463090	5463090	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:5463090G>A	ENST00000381577.3	+	4	737	c.651G>A	c.(649-651)gaG>gaA	p.E217E	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Silent_p.E103E	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	217	Ig-like C2-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TAGATCCTGAGGAAAACCATA	0.413000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								19	10					0	0	0.001882	0	0
ABCA7	10347	broad.mit.edu	37	19	1056159	1056159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1056159C>T	ENST00000263094.6	+	32	4564	c.4333C>T	c.(4333-4335)Ccc>Tcc	p.P1445S	ABCA7_ENST00000433129.1_Missense_Mutation_p.P1445S|ABCA7_ENST00000435683.2_Missense_Mutation_p.P1307S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1445					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGAGTCCCCTGCCTGG	0.672000													14	27					0	0	0.001855	0	0
DNAH1	25981	broad.mit.edu	37	3	52384040	52384040	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52384040C>T	ENST00000420323.2	+	15	2823	c.2562C>T	c.(2560-2562)atC>atT	p.I854I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	854	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCGCAAGATCTATGAGAAGC	0.632000													4	28					0	0	0.001984	0	0
ZNF786	136051	broad.mit.edu	37	7	148767554	148767554	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148767554G>A	ENST00000316286.9	-	3	2324	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZNF786_ENST00000491431.1_Silent_p.L770L|ZNF786_ENST00000451334.3_Silent_p.L733L			Q8N393	ZN786_HUMAN	zinc finger protein 786	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAGTTGGCTGAGCCTTTTCT	0.483000													450	36					0	0	0.003610	0	0
NEURL4	84461	broad.mit.edu	37	17	7230825	7230825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7230825G>A	ENST00000399464.2	-	2	676	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	NEURL4_ENST00000315614.7_Missense_Mutation_p.P221S|NEURL4_ENST00000570460.1_Missense_Mutation_p.P221S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTCGAGGGGAGGTGTGGGG	0.627000													13	44					0	0	0.001855	0	0
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:18767315C>T	ENST00000406451.3	+	13	1985	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	HDAC9_ENST00000432645.2_Missense_Mutation_p.S612F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S615F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S571F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	612					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTCACTCTTCCCCTGCTGCC	0.587000													14	16					0	0	0.002450	0	0
TPTE	7179	broad.mit.edu	37	21	10920107	10920107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10920107G>A	ENST00000298232.7	-	18	1460	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	TPTE_ENST00000361285.4_Nonsense_Mutation_p.Q383*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Q345*|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	383	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q365*(1)|p.Q383*(1)		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)		TTTACTCCCTGAAATTTTTCG	0.378000													8	60					0	0	0.004482	0	0
ITK	3702	broad.mit.edu	37	5	156671372	156671372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156671372G>A	ENST00000422843.3	+	13	1485	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	445	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCCTGTCAGATTATCTACG	0.572000			T	SYK	peripheral T-cell lymphoma								98	438					0	0	0.003610	0	0
SLA	6503	broad.mit.edu	37	8	134060148	134060148	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:134060148C>T	ENST00000338087.5	-	6	1098	c.279G>A	c.(277-279)aaG>aaA	p.K93K	SLA_ENST00000395352.3_Silent_p.K110K|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000427060.2_Silent_p.K133K|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K110K	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	93	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GCTCCTCGGCCTTGTCTCTGC	0.587000													17	37					0	0	0.007413	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786550	19786550	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:19786550C>T	ENST00000341998.2	-	1	376	c.315G>A	c.(313-315)aaG>aaA	p.K105K	SLC24A2_ENST00000286344.3_Silent_p.K105K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	105					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACTCGCCTTCCTTAGAAAGAG	0.453000													28	18					0	0	0.001786	0	0
ZNF502	91392	broad.mit.edu	37	3	44763775	44763775	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44763775A>T	ENST00000296091.4	+	4	1722	c.1466A>T	c.(1465-1467)aAg>aTg	p.K489M	ZNF502_ENST00000449836.1_Missense_Mutation_p.K489M|ZNF502_ENST00000436624.2_Missense_Mutation_p.K489M	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACTGGTGAGAAGCTCTATAAA	0.398000													9	21					0	0	0.006214	0	0
C18orf54	162681	broad.mit.edu	37	18	51888159	51888159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:51888159C>T	ENST00000300091.5	+	3	762	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.P144S	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	144						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTATGTTGGACCGAGTCACCG	0.418000													6	29					0	0	0.003080	0	0
ADCK4	79934	broad.mit.edu	37	19	41219975	41219975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41219975C>T	ENST00000324464.3	-	4	587	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	ADCK4_ENST00000243583.6_Missense_Mutation_p.G96R|ADCK4_ENST00000450541.1_Missense_Mutation_p.G96R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	96						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CACCTACCCCCAAAGTTGGCC	0.537000													27	70					0	0	0.007291	0	0
SIRT4	23409	broad.mit.edu	37	12	120741694	120741694	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:120741694C>T	ENST00000202967.4	+	2	389	c.330C>T	c.(328-330)ttC>ttT	p.F110F	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAAACTTCGTAGGCTGGC	0.572000													11	8					0	0	0.000978	0	0
ACPP	55	broad.mit.edu	37	3	132071617	132071617	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:132071617C>T	ENST00000336375.5	+	9	1008	c.918C>T	c.(916-918)ctC>ctT	p.L306L	ACPP_ENST00000351273.7_Silent_p.L306L|ACPP_ENST00000475741.1_Silent_p.L273L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	306						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACAACGGACTCCTTCCTCCCT	0.433000													30	42					0	0	0.003271	0	0
ISLR	3671	broad.mit.edu	37	15	74468300	74468300	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:74468300G>A	ENST00000249842.3	+	2	1458	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	ISLR_ENST00000395118.1_Silent_p.K367K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	367					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TTGAGGGAAAGGGCTGCTATA	0.622000													15	30					0	0	0.002450	0	0
MPP6	51678	broad.mit.edu	37	7	24690151	24690151	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24690151C>A	ENST00000396475.2	+	6	770	c.471C>A	c.(469-471)atC>atA	p.I157I	MPP6_ENST00000222644.4_Silent_p.I157I|MPP6_ENST00000409761.1_Silent_p.I45I	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	157	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCCCGAATCCTCCATGGGG	0.358000													28	57					1.22384e-17	1.99307e-17	0.002836	1	0
LHFP	10186	broad.mit.edu	37	13	40175211	40175211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:40175211C>T	ENST00000379589.3	-	2	605	c.143G>A	c.(142-144)cGg>cAg	p.R48Q		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	48						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TGAGCACCTCCGGAAGGTACC	0.567000			T	HMGA2	lipoma								29	93					0	0	0.003271	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545659	234545659	+	Missense_Mutation	SNP	C	C	T	rs144666294		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:234545659C>T	ENST00000344644.5	+	1	560	c.491C>T	c.(490-492)cCc>cTc	p.P164L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.P164L	NM_019075.2	NP_061948.1												p.P164L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTCCCTCCCCTCTGTGGTC	0.433000													36	73					0	0	0.004289	0	0
MAP10	54627	broad.mit.edu	37	1	232943896	232943896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:232943896C>T	ENST00000418460.1	+	1	3254	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAATAAACTTCCAGGATACAC	0.289000													21	9					0	0	0.001882	0	0
RYR1	6261	broad.mit.edu	37	19	39077171	39077171	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:39077171C>T	ENST00000355481.4	+	104	15092	c.14961C>T	c.(14959-14961)ttC>ttT	p.F4987F	RYR1_ENST00000360985.3_Silent_p.F4987F|RYR1_ENST00000359596.3_Silent_p.F4992F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4992					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)	TCAGGTTTTTCCTGATGTATT	0.448000													16	48					0	0	0.001216	0	0
HEXA	3073	broad.mit.edu	37	15	72642919	72642919	+	Missense_Mutation	SNP	G	G	A	rs138058578	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72642919G>A	ENST00000268097.5	-	7	1248	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.R249W|HEXA_ENST00000566304.1_Missense_Mutation_p.R260W|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.R76W|HEXA_ENST00000457859.2_Missense_Mutation_p.R57W	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	249			R -> W (in HEXA pseudodeficiency).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CGGATACCCCGGAGCCGTGCG	0.537000													37	56					0	0	0.003755	0	0
ADCY8	114	broad.mit.edu	37	8	131861930	131861930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131861930C>T	ENST00000286355.5	-	10	4422	c.2330G>A	c.(2329-2331)tGg>tAg	p.W777*	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	777					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCATTAATCCAACAGCAAGT	0.448000										HNSCC(32;0.087)			19	14					0	0	0.001216	0	0
ITIH1	3697	broad.mit.edu	37	3	52821000	52821000	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52821000C>T	ENST00000273283.2	+	14	1797	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	ITIH1_ENST00000542827.1_Silent_p.S591S|ITIH1_ENST00000540715.1_Silent_p.S449S|ITIH1_ENST00000537050.1_Silent_p.S303S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	591	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGTCATCCCAGGCCCTGC	0.612000													7	25					0	0	0.004482	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499425	31499425	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31499425G>T	ENST00000330498.3	+	8	971	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	318					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CATCCTGTGTGGGTACCTGAA	0.632000													6	122					8.12818e-05	0.000130742	0.001984	1	0
ANKHD1	54882	broad.mit.edu	37	5	139905617	139905617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:139905617C>T	ENST00000297183.6	+	26	4653	c.4529C>T	c.(4528-4530)aCc>aTc	p.T1510I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1510I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T1510I	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)			CCTAGTGCAACCACCACCACT	0.413000													65	30					0	0	0.003610	0	0
MYO1E	4643	broad.mit.edu	37	15	59470628	59470628	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59470628C>T	ENST00000288235.4	-	19	2412	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	671	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TACTCCTCCCCAGCTGGAACT	0.622000													7	28					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176525627C>T	ENST00000367662.3	+	2	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000													78	30					0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706777	26706777	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26706777C>T	ENST00000529632.2	+	7	1852	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A	SEZ6L_ENST00000404234.3_Silent_p.A552A|SEZ6L_ENST00000402979.1_Silent_p.A325A|SEZ6L_ENST00000360929.3_Silent_p.A552A|SEZ6L_ENST00000248933.6_Silent_p.A552A|SEZ6L_ENST00000343706.4_Silent_p.A552A|SEZ6L_ENST00000403121.1_Silent_p.A325A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	552	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCGGGCGGCCTCCACCTTCA	0.602000													95	14					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124377615	124377615	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124377615C>T	ENST00000338354.3	+	38	4693	c.4587C>T	c.(4585-4587)tcC>tcT	p.S1529S	DMBT1_ENST00000368909.3_Silent_p.S1529S|DMBT1_ENST00000359586.6_Silent_p.S380S|DMBT1_ENST00000368956.2_Silent_p.S901S|DMBT1_ENST00000344338.3_Silent_p.S1519S|DMBT1_ENST00000368955.3_Silent_p.S1519S|DMBT1_ENST00000330163.4_Silent_p.S901S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1529	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCAAGGCTCCTGGGGCACCG	0.587000													85	278					0	0	0.003610	0	0
NFE2L1	4779	broad.mit.edu	37	17	46134780	46134780	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:46134780C>T	ENST00000362042.3	+	5	1504	c.888C>T	c.(886-888)ctC>ctT	p.L296L	NFE2L1_ENST00000585291.1_Silent_p.L266L|NFE2L1_ENST00000361665.3_Silent_p.L285L|NFE2L1_ENST00000357480.5_Silent_p.L266L|NFE2L1_ENST00000536222.1_Silent_p.L140L|NFE2L1_ENST00000582155.1_Silent_p.L108L|NFE2L1_ENST00000583378.1_Silent_p.L97L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	296					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAACAACCTCTTGTCTCCTC	0.483000													22	93					0	0	0.002780	0	0
RERGL	79785	broad.mit.edu	37	12	18237579	18237579	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:18237579G>A	ENST00000229002.2	-	5	413	c.207C>T	c.(205-207)tcC>tcT	p.S69S	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Silent_p.S68S	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	69	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CACTTGTGAGGGAGAATTTTG	0.378000													42	18					0	0	0.003214	0	0
STXBP4	252983	broad.mit.edu	37	17	53078208	53078208	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:53078208A>T	ENST00000376352.2	+	7	745	c.538A>T	c.(538-540)Act>Tct	p.T180S	STXBP4_ENST00000434978.2_Missense_Mutation_p.T180S|STXBP4_ENST00000405898.1_Missense_Mutation_p.T180S|STXBP4_ENST00000398391.2_Missense_Mutation_p.T105S|STXBP4_ENST00000299341.4_Missense_Mutation_p.T105S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	180						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GATTCCAATTACTTCAGAAAA	0.328000													50	52					0	0	0.003610	0	0
AGO3	192669	broad.mit.edu	37	1	36437823	36437823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:36437823C>T	ENST00000373191.4	+	4	860	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	AGO3_ENST00000397828.2_Missense_Mutation_p.P171S|AGO3_ENST00000324350.5_Missense_Mutation_p.P171S|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		ACGACATCTGCCCTCCATGAA	0.453000													3	15					0	0	0.004672	0	0
COL4A2	1284	broad.mit.edu	37	13	111102714	111102714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:111102714C>T	ENST00000360467.5	+	20	1558	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	418	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCCGGCATCCCTGCGCTCTA	0.647000													16	11					0	0	0.004007	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	C	T	rs142326096		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:21318927C>T	ENST00000583088.1	+	3	1168	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ12_ENST00000331718.5_Silent_p.F91F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGCTGGCCTTCCTTGCCTCCT	0.622000										Prostate(3;0.18)			6	22					0	0	0.003080	0	0
RBM22	55696	broad.mit.edu	37	5	150072586	150072586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:150072586G>A	ENST00000199814.4	-	10	1124	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	RBM22_ENST00000540000.1_Missense_Mutation_p.L286F|RBM22_ENST00000447771.2_Missense_Mutation_p.L286F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	335	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGAGGAAGAGCTGGAGGA	0.517000													19	46					0	0	0.002780	0	0
AFM	173	broad.mit.edu	37	4	74367531	74367531	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:74367531G>A	ENST00000226355.3	+	13	1767	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	558	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGCTGAAGCATGAACTCA	0.388000													4	9					0	0	0.000248	0	0
MUS81	80198	broad.mit.edu	37	11	65631085	65631085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:65631085C>T	ENST00000308110.4	+	9	1203	c.854C>T	c.(853-855)cCg>cTg	p.P285L	MUS81_ENST00000533035.1_Missense_Mutation_p.P210L	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	285	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGGCACAGGCCGGAGCTGCTC	0.632000								Homologous recombination					11	3					0	0	0.000978	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813035	176813035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176813035G>A	ENST00000324417.5	+	3	248	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	SLC34A1_ENST00000512593.1_Missense_Mutation_p.G53S	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	53					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCCCAGCCTGGGCCCTGTGGC	0.687000													13	68					0	0	0.002450	0	0
CRB2	286204	broad.mit.edu	37	9	126132826	126132826	+	Nonsense_Mutation	SNP	G	G	A	rs144803819	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:126132826G>A	ENST00000373631.3	+	7	1495	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	CRB2_ENST00000359999.3_Nonsense_Mutation_p.W498*|CRB2_ENST00000373629.2_Nonsense_Mutation_p.W166*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	498	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACACTCTGGAGCTACAGCA	0.602000													25	20					0	0	0.002096	0	0
OTOA	146183	broad.mit.edu	37	16	21698938	21698938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:21698938C>T	ENST00000388958.3	+	7	605	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	OTOA_ENST00000388956.4_Missense_Mutation_p.R123W|OTOA_ENST00000286149.4_Missense_Mutation_p.R202W	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	202					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCGGCTCCCTCGGGACCTGCG	0.542000													15	10					0	0	0.004007	0	0
OR10X1	128367	broad.mit.edu	37	1	158549150	158549150	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158549150G>A	ENST00000368150.1	-	1	539	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	180			F -> L (in dbSNP:rs16840360).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGAGTCCCTGAATATCAGTG	0.443000													7	49					0	0	0.004482	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375101	113375101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:113375101C>T	ENST00000316407.4	-	7	5838	c.5428G>A	c.(5428-5430)Gac>Aac	p.D1810N	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.D1810N	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1810					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTTCACTGTCCCTTGATGGA	0.463000													112	84					0	0	0.003610	0	0
DEFB119	245932	broad.mit.edu	37	20	29966157	29966157	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29966157G>A	ENST00000339144.3	-	2	205	c.99C>T	c.(97-99)gcC>gcT	p.A33A	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Intron			Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ccacccacctggcagtatcca	0.512000													62	122					0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176003066	176003066	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176003066C>T	ENST00000510636.1	+	12	1348	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	CDHR2_ENST00000506348.1_Silent_p.L358L|CDHR2_ENST00000261944.5_Silent_p.L358L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	358					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTGCAGCCTCCCAGCCTGCA	0.577000													41	19					0	0	0.001951	0	0
MUC16	94025	broad.mit.edu	37	19	9076809	9076809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9076809C>T	ENST00000397910.4	-	3	10840	c.10637G>A	c.(10636-10638)gGa>gAa	p.G3546E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3547	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTTGGTTCCCATGGTGGT	0.542000													22	111					0	0	0.002780	0	0
FRY	10129	broad.mit.edu	37	13	32841337	32841337	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:32841337C>T	ENST00000380250.3	+	55	8473	c.7977C>T	c.(7975-7977)ccC>ccT	p.P2659P	FRY_ENST00000542859.1_Silent_p.P29P	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGTCTCTCCCCCTCCCTCGC	0.522000													28	53					0	0	0.002096	0	0
SSX7	280658	broad.mit.edu	37	X	52682029	52682029	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:52682029G>A	ENST00000298181.5	-	3	233	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	25	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CAATATCATCGAAGGACTAGG	0.413000													55	6					0	0	0.003610	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38350536C>T	ENST00000273173.4	+	4	958	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_ENST00000448498.1_Silent_p.I289I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000													26	74					0	0	0.004878	0	0
HDAC6	10013	broad.mit.edu	37	X	48681693	48681693	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48681693C>T	ENST00000334136.5	+	25	3062	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	HDAC6_ENST00000376619.2_Silent_p.L962L|HDAC6_ENST00000444343.2_Silent_p.L976L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	962					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGAGCCATTCTGGACCAGAC	0.642000													7	6					0	0	0.004482	0	0
KIAA1468	57614	broad.mit.edu	37	18	59855179	59855179	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:59855179G>T	ENST00000256858.6	+	1	689	c.441G>T	c.(439-441)atG>atT	p.M147I	KIAA1468_ENST00000398130.2_Missense_Mutation_p.M147I			Q9P260	K1468_HUMAN	KIAA1468	147							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CGCCGGGGATGGGGGCGCCAG	0.672000											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0.00116845	0.00187356	0.001168	1	0
GTF2I	2969	broad.mit.edu	37	7	74146890	74146890	+	Silent	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:74146890T>A	ENST00000324896.4	+	15	1580	c.1191T>A	c.(1189-1191)ctT>ctA	p.L397L	GTF2I_ENST00000346152.4_Silent_p.L376L|GTF2I_ENST00000416070.1_Silent_p.L356L|GTF2I_ENST00000353920.4_Silent_p.L377L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	397					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAGATCTTTATGTAGAAG	0.423000													70	58					0	0	0.003610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094559	76094559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76094559C>T	ENST00000335749.4	+	18	5119	c.4550C>T	c.(4549-4551)cCc>cTc	p.P1517L	TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1481L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1481L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1517L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1517L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1481L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1481	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTAACCAATCCCAAGCCCTCC	0.622000													21	71					0	0	0.001216	0	0
DSG1	1828	broad.mit.edu	37	18	28918289	28918289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28918289G>A	ENST00000257192.4	+	10	1489	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	426	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGTAATGGGAAATAATCCA	0.303000													26	16					0	0	0.007291	0	0
OR4D10	390197	broad.mit.edu	37	11	59245505	59245505	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59245505C>T	ENST00000530162.1	+	1	660	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAATGATTTCCAACAATGGAC	0.468000													43	27					0	0	0.001951	0	0
HTR1A	3350	broad.mit.edu	37	5	63256645	63256645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:63256645G>A	ENST00000323865.3	-	1	1135	c.902C>T	c.(901-903)tCc>tTc	p.S301F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	301					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGCTCTTTGGAGTTGCCCAC	0.647000													7	31					0	0	0.003080	0	0
LYST	1130	broad.mit.edu	37	1	235866167	235866167	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235866167G>A	ENST00000389794.3	-	45	10428	c.10254C>T	c.(10252-10254)gcC>gcT	p.A3418A	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.A3418A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3418	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTCACATGGGCCATGTGGA	0.527000													63	221					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179610515	179610515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179610515G>A	ENST00000360870.5	-	46	16834	c.16612C>T	c.(16612-16614)Cgt>Tgt	p.R5538C	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9008	Ig-like 36.						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)			GGAGAGCCACGAACTAAGCAC	0.443000													33	35					0	0	0.002836	0	0
TIMD4	91937	broad.mit.edu	37	5	156347490	156347490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156347490G>A	ENST00000274532.2	-	8	1093	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	TIMD4_ENST00000406964.1_Missense_Mutation_p.S48L|TIMD4_ENST00000407087.3_Missense_Mutation_p.S318L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	346						integral to membrane		p.S346L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGTTTCTGCGAACAATAGGT	0.423000													80	476					0	0	0.003610	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	22					0.00116845	0.00187356	0.001168	1	0
NETO1	81832	broad.mit.edu	37	18	70423345	70423345	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70423345G>T	ENST00000327305.6	-	8	1563	c.906C>A	c.(904-906)aaC>aaA	p.N302K	NETO1_ENST00000299430.2_Missense_Mutation_p.N301K|NETO1_ENST00000583169.1_Missense_Mutation_p.N302K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	302	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAATACACATGTTACTATGGC	0.363000													16	51					9.16793e-09	1.48361e-08	0.004990	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597445	136597445	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136597445C>T	ENST00000531224.1	-	5	1470	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	BCLAF1_ENST00000353331.4_Silent_p.E404E|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Silent_p.E404E|BCLAF1_ENST00000527536.1_Silent_p.E406E|BCLAF1_ENST00000392348.2_Silent_p.E404E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	406					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTATAATCCTCTGTCTCCT	0.428000													77	206					0	0	0.003610	0	0
CCDC71	64925	broad.mit.edu	37	3	49200241	49200241	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49200241G>A	ENST00000321895.6	-	2	1507	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	467										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGGAATCAGACTGCTGAAT	0.562000													4	10					0	0	0.000602	0	0
LPO	4025	broad.mit.edu	37	17	56329578	56329578	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56329578G>A	ENST00000262290.4	+	8	1132	c.816G>A	c.(814-816)ggG>ggA	p.G272G	LPO_ENST00000421678.2_Silent_p.G189G|LPO_ENST00000582328.1_Silent_p.G189G|LPO_ENST00000543544.1_Silent_p.G213G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	272					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGACTCAAGGGAAATGCATGC	0.602000													18	48					0	0	0.007413	0	0
FBN3	84467	broad.mit.edu	37	19	8194188	8194188	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8194188C>T	ENST00000600128.1	-	17	2520	c.2106G>A	c.(2104-2106)cgG>cgA	p.R702R	FBN3_ENST00000270509.2_Silent_p.R702R|FBN3_ENST00000601739.1_Silent_p.R702R			Q75N90	FBN3_HUMAN	fibrillin 3	702	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGCTGCCCCGAAGGTTCT	0.612000													13	38					0	0	0.001855	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560175	36560175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:36560175G>A	ENST00000373461.4	+	2	507	c.260G>A	c.(259-261)tGg>tAg	p.W87*	VSTM2L_ENST00000373458.3_Nonsense_Mutation_p.W87*|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	87	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CACCGGGACTGGACCGACAAG	0.657000													14	54					0	0	0.001855	0	0
GLUD1	2746	broad.mit.edu	37	10	88811610	88811610	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88811610G>A	ENST00000277865.4	-	13	1671	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	GLUD1_ENST00000537649.1_Silent_p.A358A|GLUD1_ENST00000544149.1_Silent_p.A392A	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	525					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TATACTTCATGGCTGTGCGCA	0.458000													47	44					0	0	0.003610	0	0
ACAP3	116983	broad.mit.edu	37	1	1231243	1231243	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1231243G>A	ENST00000354700.5	-	18	1780	c.1578C>T	c.(1576-1578)gcC>gcT	p.A526A	ACAP3_ENST00000353662.3_Silent_p.A484A	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	526					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						GGGCCTCCAGGGCTGGTGCCA	0.652000													13	9					0	0	0.001855	0	0
DOCK2	1794	broad.mit.edu	37	5	169096332	169096332	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:169096332G>A	ENST00000256935.8	+	3	248	c.168_splice	c.e3+1	p.Q56_splice		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	56	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTTACAGGTAAGGTCAC	0.423000													85	45					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10354126	10354126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10354126C>T	ENST00000255381.2	-	29	4062	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1318					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTTTAATTCTTCAATCTGT	0.408000													25	60					0	0	0.004656	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265547	22265547	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:22265547G>A	ENST00000390430.2	+	0	89																											TGGCCCCGAGGAGAATTTCCA	0.502000													7	6					0	0	0.003080	0	0
FBN1	2200	broad.mit.edu	37	15	48718057	48718057	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:48718057G>A	ENST00000316623.5	-	59	7664	c.7209C>T	c.(7207-7209)atC>atT	p.I2403I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2403	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCATTCATCGATATCTGTAA	0.313000													17	40					0	0	0.006122	0	0
ADAM23	8745	broad.mit.edu	37	2	207460812	207460812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:207460812C>T	ENST00000264377.3	+	24	2613	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	ADAM23_ENST00000374416.1_Missense_Mutation_p.T762I|ADAM23_ENST00000374415.3_Missense_Mutation_p.T762I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	762	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGTGATTTCACCTGGGCAGGG	0.423000													13	19					0	0	0.004990	0	0
DHX34	9704	broad.mit.edu	37	19	47856916	47856916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47856916C>T	ENST00000328771.4	+	2	978	c.629C>T	c.(628-630)aCc>aTc	p.T210I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	210	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGGCGTGCACCCAGCCCCGG	0.637000													6	21					0	0	0.003080	0	0
SLC2A1	6513	broad.mit.edu	37	1	43393399	43393399	+	Silent	SNP	G	G	A	rs76860965		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:43393399G>A	ENST00000426263.3	-	9	1333	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	385					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACCATGGGATGGGGCCAGGAC	0.552000													9	7					0	0	0.004482	0	0
CDA	978	broad.mit.edu	37	1	20931499	20931499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:20931499G>A	ENST00000375071.3	+	2	415	c.233G>A	c.(232-234)gGg>gAg	p.G78E	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	78					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|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)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTCTCAGAAGGGTACAAGGAT	0.498000													11	17					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82538248	82538248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:82538248C>T	ENST00000423517.2	-	8	13719	c.13382G>A	c.(13381-13383)cGa>cAa	p.R4461Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4461Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4392	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGGCAGTTTTCGGTCCAGACC	0.418000													101	6					0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89400855	89400855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:89400855G>A	ENST00000439576.2	+	12	5413	c.5039G>A	c.(5038-5040)gGg>gAg	p.G1680E	ACAN_ENST00000559004.1_Missense_Mutation_p.G1680E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1680E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1680E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1680					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAACTGGAAGGGAGGGGAACC	0.517000													82	121					0	0	0.003610	0	0
LOC494141	494141	broad.mit.edu	37	11	18231403	18231403	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18231403C>T	ENST00000527059.1	+	1	649	c.189C>T	c.(187-189)ctC>ctT	p.L63L	RP11-113D6.10_ENST00000534640.1_Silent_p.L63L|RP11-113D6.10_ENST00000340135.3_Silent_p.L63L																							AGAAGGTCCTCTTTCCACAAC	0.443000													28	13					0	0	0.002096	0	0
PLB1	151056	broad.mit.edu	37	2	28761176	28761176	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:28761176C>T	ENST00000422425.2	+	10	623	c.579C>T	c.(577-579)ctC>ctT	p.L193L	PLB1_ENST00000327757.5_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	185	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCACGGTTCTCCTCTCACAGA	0.647000													11	13					0	0	0.001882	0	0
CD96	10225	broad.mit.edu	37	3	111296348	111296348	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:111296348G>A	ENST00000283285.5	+	4	674		c.e4-1		CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCTTCCTTAGGAAAACAGCA	0.423000									Opitz Trigonocephaly syndrome				42	124					0	0	0.003610	0	0
TIMD4	91937	broad.mit.edu	37	5	156376728	156376728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156376728G>A	ENST00000274532.2	-	4	750	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	TIMD4_ENST00000407087.3_Missense_Mutation_p.L232F	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	232						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACTGGGGAGGACAGTTTCT	0.453000													31	205					0	0	0.002836	0	0
MYH4	4622	broad.mit.edu	37	17	10363547	10363547	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10363547G>A	ENST00000255381.2	-	13	1349	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	413	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTGGTTACGAACTCATTGC	0.433000													31	48					0	0	0.002836	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203637	94203637	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:94203637G>A	ENST00000393140.1	-	4	411	c.309C>T	c.(307-309)tcC>tcT	p.S103S	PRIMA1_ENST00000316227.3_Silent_p.S103S|PRIMA1_ENST00000393143.1_Silent_p.S103S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	103					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAAACACCAGGGAGGCACAGC	0.537000													26	4					0	0	0.001512	0	0
TIMD4	91937	broad.mit.edu	37	5	156381595	156381595	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156381595G>A	ENST00000274532.2	-	2	287	c.231C>T	c.(229-231)acC>acT	p.T77T	TIMD4_ENST00000407087.3_Silent_p.T77T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	77	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTTCTTGAGGTCACCCTCA	0.527000													106	523					0	0	0.003610	0	0
POLR3GL	84265	broad.mit.edu	37	1	145456715	145456715	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145456715A>C	ENST00000369314.1	-	8	685	c.579T>G	c.(577-579)gaT>gaG	p.D193E	POLR3GL_ENST00000369313.3_Missense_Mutation_p.D170E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	193										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATGATGTAATCAGTTTCCT	0.413000													40	105					0	0	0.002852	0	0
PSMB8	5696	broad.mit.edu	37	6	32809461	32809461	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32809461T>C	ENST00000374881.2	-	5	866	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	PSMB8_ENST00000395339.3_Missense_Mutation_p.M173V|PSMB8_ENST00000374882.3_Missense_Mutation_p.M197V	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	197					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						GTGGAGAACATATTTCCTGAG	0.502000													106	198					0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	90					0	0	0.001984	0	0
RPS18	6222	broad.mit.edu	37	6	33244213	33244213	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:33244213C>T	ENST00000439602.2	+	6	539	c.429C>T	c.(427-429)ggC>ggT	p.G143G	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Silent_p.G73G			P62269	RS18_HUMAN	ribosomal protein S18	143					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						GCCGCCGTGGCCGCACCGTGG	0.488000													18	26					0	0	0.002780	0	0
DPPA2	151871	broad.mit.edu	37	3	109023324	109023324	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:109023324C>T	ENST00000478945.1	-	7	1098	c.852G>A	c.(850-852)aaG>aaA	p.K284K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	284						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGTTACCTCTTAGCACAGT	0.418000													8	32					0	0	0.006214	0	0
TEP1	7011	broad.mit.edu	37	14	20848177	20848177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20848177G>A	ENST00000262715.5	-	35	5079	c.5039C>T	c.(5038-5040)aCt>aTt	p.T1680I	TEP1_ENST00000556935.1_Missense_Mutation_p.T1572I|TEP1_ENST00000545983.1_Missense_Mutation_p.T18I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1680					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCACAGCAGTAGGGGATGA	0.493000													25	35					0	0	0.003954	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170800	61170800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61170800G>A	ENST00000382771.4	+	7	1265	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	325					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGTGTGCTTAGAAATAACTGA	0.443000													14	32					0	0	0.001855	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095111	16095111	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:16095111A>T	ENST00000375766.3	+	5	1167	c.527A>T	c.(526-528)aAa>aTa	p.K176I	FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.K176I|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Missense_Mutation_p.K176I	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	176					cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCTGTTGAGAAAGGGGCATCC	0.632000													11	12					0	0	0.001368	0	0
ZNF283	284349	broad.mit.edu	37	19	44351537	44351537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44351537C>T	ENST00000324461.7	+	7	1081	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	ZNF283_ENST00000588797.1_Missense_Mutation_p.P123S	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGGTGAGAAACCCTATGAGTG	0.383000													44	35					0	0	0.002222	0	0
CDCP1	64866	broad.mit.edu	37	3	45152315	45152315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45152315G>A	ENST00000296129.1	-	4	808	c.674C>T	c.(673-675)tCt>tTt	p.S225F	CDCP1_ENST00000425231.2_Missense_Mutation_p.S225F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	225						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCAAACACAGACTCGATGAT	0.552000													104	92					0	0	0.003610	0	0
RFX5	5993	broad.mit.edu	37	1	151314837	151314837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:151314837G>A	ENST00000290524.4	-	11	1854	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	RFX5_ENST00000368870.2_Missense_Mutation_p.P559L|RFX5_ENST00000452671.2_Missense_Mutation_p.P559L|RFX5_ENST00000452513.2_Missense_Mutation_p.P519L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	559						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGACCAAGGGAATTTTATC	0.522000													26	120					0	0	0.004656	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377262	104377262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:104377262G>A	ENST00000535008.1	+	4	710	c.586G>A	c.(586-588)Gga>Aga	p.G196R	LHFPL3_ENST00000424859.1_Missense_Mutation_p.G182R|LHFPL3_ENST00000401970.2_Missense_Mutation_p.G182R|LHFPL3_ENST00000543266.1_Missense_Mutation_p.G196R			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	182						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGCTATTATTGGAATTTTGGA	0.458000													22	30					0	0	0.002299	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445597	32445597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:32445597C>T	ENST00000282587.5	+	14	1238	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	SLC30A6_ENST00000538303.1_Missense_Mutation_p.L372F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L378F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L327F|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L204F|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L441F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	401						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCAGTTATTCTTCTAAACAC	0.413000													25	67					0	0	0.004656	0	0
SDK2	54549	broad.mit.edu	37	17	71427751	71427751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:71427751G>A	ENST00000392650.3	-	11	1370	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	SDK2_ENST00000388726.3_Missense_Mutation_p.S457L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	457	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGCTGCCCGACTCCAGGGG	0.652000													20	60					0	0	0.001216	0	0
NGLY1	55768	broad.mit.edu	37	3	25781209	25781209	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:25781209T>A	ENST00000428257.1	-	5	847	c.740A>T	c.(739-741)aAc>aTc	p.N247I	NGLY1_ENST00000417874.2_Missense_Mutation_p.N205I|NGLY1_ENST00000280700.5_Missense_Mutation_p.N247I|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.N247I	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	247					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCACAAAACGTTATTCACCCA	0.413000													45	53					0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142217497	142217497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142217497G>A	ENST00000350721.4	-	32	5621	c.5500C>T	c.(5500-5502)Ctt>Ttt	p.L1834F	ATR_ENST00000383101.3_Missense_Mutation_p.L1770F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1834	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCAGCTGAAAGAGGTACAATT	0.368000								Other conserved DNA damage response genes					9	21					0	0	0.004482	0	0
ZNF812	729648	broad.mit.edu	37	19	9801144	9801144	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9801144G>A	ENST00000457674.2	-	5	1553	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAGGGTTGAGGATCCATTGA	0.418000													33	19					0	0	0.002096	0	0
PSG9	5678	broad.mit.edu	37	19	43772110	43772110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43772110C>T	ENST00000244293.7	-	2	322	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG9_ENST00000593948.1_Missense_Mutation_p.G86S|PSG9_ENST00000418820.2_Missense_Mutation_p.G86S|PSG9_ENST00000596730.1_Missense_Mutation_p.G86S|PSG9_ENST00000443718.3_Missense_Mutation_p.G86S|PSG9_ENST00000270077.3_Missense_Mutation_p.G86S|PSG9_ENST00000291752.5_Missense_Mutation_p.G86S			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	86	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATTATTTTACCATCAACTATA	0.428000													45	181					0	0	0.003214	0	0
FREM2	341640	broad.mit.edu	37	13	39451349	39451349	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:39451349C>T	ENST00000280481.7	+	21	8856	c.8640C>T	c.(8638-8640)ttC>ttT	p.F2880F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					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)		CCATGGGATTCGGGCAAGAGA	0.438000													50	87					0	0	0.003610	0	0
UGGT1	56886	broad.mit.edu	37	2	128936108	128936108	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:128936108C>A	ENST00000375990.3	+	34	4111	c.3708C>A	c.(3706-3708)tcC>tcA	p.S1236S	UGGT1_ENST00000259253.6_Silent_p.S1260S			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1260					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.S1260S(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATATTTTCTCCGTTGCATCTG	0.343000													14	43					1.3612e-06	2.19798e-06	0.003163	1	0
COL5A1	1289	broad.mit.edu	37	9	137707431	137707431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:137707431G>A	ENST00000371817.3	+	51	4438	c.4024G>A	c.(4024-4026)Ggt>Agt	p.G1342S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1342	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)		GGGCCCAGTGGGTTTTCCTGG	0.617000													5	10					0	0	0.001168	0	0
PDE4A	5141	broad.mit.edu	37	19	10578042	10578042	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10578042C>T	ENST00000380702.2	+	16	2340	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	PDE4A_ENST00000592685.1_Silent_p.F780F|PDE4A_ENST00000440014.2_Silent_p.F741F|PDE4A_ENST00000344979.3_Silent_p.F563F|PDE4A_ENST00000352831.6_Silent_p.F802F|PDE4A_ENST00000293683.5_Silent_p.F776F			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	802					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GGGAGGAATTCGTGGTTGCTG	0.622000													52	48					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158590154	158590154	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158590154G>A	ENST00000368148.3	-	44	6403	c.6223C>T	c.(6223-6225)Ctg>Ttg	p.L2075L	SPTA1_ENST00000368147.3_Silent_p.L2072L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2075					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTCATTCAGGGAGACACAG	0.483000													19	27					0	0	0.001216	0	0
PPRC1	23082	broad.mit.edu	37	10	103899555	103899555	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103899555C>T	ENST00000278070.2	+	5	1329	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	PPRC1_ENST00000413464.2_Silent_p.P430P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	430					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)		TATTGAAGCCCAGGGAGGTCG	0.572000													18	42					0	0	0.004990	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601523	58601523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58601523G>A	ENST00000240727.6	-	2	511	c.112C>T	c.(112-114)Cct>Tct	p.P38S	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P94S|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P38S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCCTCTCAGGGATGGTCTCG	0.687000													19	52					0	0	0.007413	0	0
ZNF471	57573	broad.mit.edu	37	19	57037279	57037279	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57037279A>T	ENST00000308031.5	+	5	1976	c.1843A>T	c.(1843-1845)Att>Ttt	p.I615F	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTTATCCTTAATTTGTCATCA	0.428000													20	48					0	0	0.002299	0	0
ALPL	249	broad.mit.edu	37	1	21894741	21894741	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21894741G>A	ENST00000374840.3	+	7	1042		c.e7+1		ALPL_ENST00000540617.1_Splice_Site|ALPL_ENST00000539907.1_Splice_Site|ALPL_ENST00000425315.2_Splice_Site|ALPL_ENST00000374832.1_Splice_Site	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney						response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGATACAAGGTAGCCTGTGC	0.572000													12	10					0	0	0.001855	0	0
CTCFL	140690	broad.mit.edu	37	20	56098752	56098752	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:56098752C>A	ENST00000426658.2	-	1	1171	c.510G>T	c.(508-510)gcG>gcT	p.A170A	CTCFL_ENST00000422869.2_Silent_p.A170A|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422109.2_Silent_p.A170A|CTCFL_ENST00000423479.2_Silent_p.A170A|CTCFL_ENST00000432255.2_Silent_p.A170A|CTCFL_ENST00000371196.2_Silent_p.A170A|CTCFL_ENST00000429804.2_Silent_p.A170A|CTCFL_ENST00000243914.3_Silent_p.A170A|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Silent_p.A170A			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	170					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCAGGCTCACCGCTAACTTAC	0.458000													6	247					0.00448238	0.00716665	0.004482	1	0
RBFOX1	54715	broad.mit.edu	37	16	7759066	7759066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:7759066G>A	ENST00000340209.4	+	12	1316	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	RBFOX1_ENST00000422070.4_Missense_Mutation_p.R378Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E396K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R356Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E310K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E370K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R356Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R335Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E374K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R335Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R308Q			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	335					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.R356Q(1)|p.E374K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTTACGGACGAGTTTATGCT	0.453000													32	40					0	0	0.003271	0	0
CDH18	1016	broad.mit.edu	37	5	19571736	19571736	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:19571736A>G	ENST00000507958.1	-	10	2195	c.1205T>C	c.(1204-1206)gTt>gCt	p.V402A	CDH18_ENST00000274170.4_Missense_Mutation_p.V402A|CDH18_ENST00000506372.1_Missense_Mutation_p.V402A|CDH18_ENST00000382275.1_Missense_Mutation_p.V402A|CDH18_ENST00000502796.1_Missense_Mutation_p.V402A|CDH18_ENST00000511273.1_Missense_Mutation_p.V402A			Q13634	CAD18_HUMAN	cadherin 18, type 2	402	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACTGTACCAACGACGGTCCC	0.423000													40	16					0	0	0.002852	0	0
LTN1	26046	broad.mit.edu	37	21	30365230	30365230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:30365230C>T	ENST00000389194.2	-	1	40	c.35G>A	c.(34-36)gGa>gAa	p.G12E	LTN1_ENST00000389195.2_Missense_Mutation_p.G12E|LTN1_ENST00000361371.4_5'UTR			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTAATAACTTCCCCCGGGCCC	0.642000													4	3					0	0	0.000248	0	0
OGDH	4967	broad.mit.edu	37	7	44684995	44684995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:44684995C>T	ENST00000222673.5	+	3	334	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	OGDH_ENST00000449767.1_Missense_Mutation_p.P98S|OGDH_ENST00000443864.2_Missense_Mutation_p.P98S|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.P38S|OGDH_ENST00000447398.1_Missense_Mutation_p.P98S|OGDH_ENST00000444676.1_Missense_Mutation_p.P98S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	98					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GAGTCCCCTTCCCCTGAGCCG	0.587000													62	139					0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	91					0	0	0.001984	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348878	122348878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:122348878C>T	ENST00000398250.1	+	7	1032	c.680C>T	c.(679-681)cCt>cTt	p.P227L	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P217L|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P164L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.L77F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	227					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAGCACTATCCTCCTCTGGCC	0.522000													95	87					0	0	0.003610	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392681	140392681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:140392681G>A	ENST00000406427.1	-	17	2110	c.1774C>T	c.(1774-1776)Ccg>Tcg	p.P592S	PNPLA7_ENST00000371457.1_Missense_Mutation_p.P173S|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P567S	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	567					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACGACGGTCGGCTGCTTCCGC	0.647000													32	16					0	0	0.003271	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276937	37276937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:37276937G>A	ENST00000233099.5	-	18	2650	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S852F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	852							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCAGGGCAGATTTACGAAC	0.413000													8	25					0	0	0.006214	0	0
SI	6476	broad.mit.edu	37	3	164792420	164792420	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164792420G>C	ENST00000264382.3	-	3	216	c.154C>G	c.(154-156)Cgt>Ggt	p.R52G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	52	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTCACACGAGTAGTAGCT	0.333000										HNSCC(35;0.089)			16	24					0	0	0.001523	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540305	96540305	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96540305G>A	ENST00000371321.3	+	4	613	c.531G>A	c.(529-531)gtG>gtA	p.V177V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTGCAATGTGATCTGCTCCA	0.353000													74	63					0	0	0.003610	0	0
C5orf42	65250	broad.mit.edu	37	5	37201695	37201695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:37201695C>T	ENST00000274258.7	-	19	3735	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1169K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1169K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1169										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)			AAGCTTACTTCACTAAGAATA	0.343000													47	24					0	0	0.003610	0	0
ELTD1	64123	broad.mit.edu	37	1	79357242	79357242	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:79357242G>A	ENST00000370742.3	-	14	2040	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	659					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATAAAAAAATGAACATCCCCT	0.398000													9	10					0	0	0.006214	0	0
DMBT1	1755	broad.mit.edu	37	10	124377614	124377614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124377614C>T	ENST00000338354.3	+	38	4692	c.4586C>T	c.(4585-4587)tCc>tTc	p.S1529F	DMBT1_ENST00000368909.3_Missense_Mutation_p.S1529F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S380F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S901F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1519F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1519F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S901F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1529	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAAGGCTCCTGGGGCACC	0.582000													87	278					0	0	0.003610	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467298	85467298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:85467298C>T	ENST00000394573.1	+	12	1242	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A347V|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A269V|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A347V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A347V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A347V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	347					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTTACGCCACCATTGCT	0.547000													11	99					0	0	0.000978	0	0
LAIR2	3904	broad.mit.edu	37	19	55014948	55014948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55014948G>A	ENST00000301202.2	+	2	189	c.67G>A	c.(67-69)Gag>Aag	p.E23K	LAIR2_ENST00000351841.2_Missense_Mutation_p.E23K	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	23						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCACACGCAGGAGGGTAAGTC	0.577000													60	18					0	0	0.003610	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082758	73082758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:73082758C>T	ENST00000373189.5	+	2	299	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	83					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GTTCAAACTCCGCAACTCCTC	0.552000													20	30					0	0	0.001523	0	0
TFE3	7030	broad.mit.edu	37	X	48896849	48896849	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:48896849A>C	ENST00000315869.7	-	3	576	c.317T>G	c.(316-318)aTg>aGg	p.M106R	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	106					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGATGACGACATGGCAGGGGT	0.637000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								9	2					0	0	0.004482	0	0
OR6F1	343169	broad.mit.edu	37	1	247875959	247875959	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247875959C>T	ENST00000302084.2	-	1	146	c.99G>A	c.(97-99)gtG>gtA	p.V33V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGATGTACATCACCAGAAAAA	0.463000													73	94					0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125316188	125316188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125316188C>T	ENST00000373688.2	+	1	798	c.740C>T	c.(739-741)tCt>tTt	p.S247F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTCATCTCATCTCCTGGAGGG	0.502000													38	79					0	0	0.002852	0	0
TRIML1	339976	broad.mit.edu	37	4	189068478	189068478	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:189068478G>T	ENST00000332517.3	+	6	1499	c.1359G>T	c.(1357-1359)ggG>ggT	p.G453G	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	453	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAAATGAGGGGACAAACACAG	0.577000													28	51					1.68575e-08	2.72733e-08	0.007291	1	0
ZNF845	91664	broad.mit.edu	37	19	53854487	53854487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53854487C>T	ENST00000458035.1	+	4	676	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.H187Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCCTAAAACCCACATTTCTAA	0.368000													18	83					0	0	0.004990	0	0
KCNC3	3748	broad.mit.edu	37	19	50826822	50826822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50826822G>A	ENST00000376959.2	-	2	1551	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	KCNC3_ENST00000477616.1_Missense_Mutation_p.A463V|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	463					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AATCATGGTGGCGAAGATGAG	0.607000													10	31					0	0	0.000673	0	0
CMTM1	113540	broad.mit.edu	37	16	66603928	66603928	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:66603928C>T	ENST00000379500.2	+	2	589	c.522C>T	c.(520-522)gtC>gtT	p.V174V	CMTM1_ENST00000328020.6_Silent_p.V174V|CMTM1_ENST00000528324.1_Silent_p.V57V|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Silent_p.V57V|CMTM1_ENST00000531885.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	57					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TCTGCATTGTCGTTTTTTTTA	0.343000													47	105					0	0	0.003214	0	0
GRM4	2914	broad.mit.edu	37	6	34101185	34101185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:34101185G>A	ENST00000374181.3	-	1	258	c.89C>T	c.(88-90)tCc>tTc	p.S30F	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.S30F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	30					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTTTCCCAGGGAGGAAGGCAT	0.632000													10	47					0	0	0.000673	0	0
PASK	23178	broad.mit.edu	37	2	242065899	242065899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:242065899G>A	ENST00000403638.3	-	10	2522	c.2431C>T	c.(2431-2433)Cga>Tga	p.R811*	PASK_ENST00000544142.1_Nonsense_Mutation_p.R625*|PASK_ENST00000405260.1_Nonsense_Mutation_p.R811*|PASK_ENST00000358649.4_Nonsense_Mutation_p.R811*|PASK_ENST00000234040.4_Nonsense_Mutation_p.R811*|PASK_ENST00000539818.1_Nonsense_Mutation_p.R595*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	811					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGAACCGTCGGCCTTGGCCA	0.562000													10	20					0	0	0.000673	0	0
ASH1L	55870	broad.mit.edu	37	1	155449894	155449894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:155449894C>T	ENST00000368346.3	-	3	3406	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E923K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	923					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTCAGATTCTAGCTTGCTT	0.473000													31	103					0	0	0.002445	0	0
MAML3	55534	broad.mit.edu	37	4	140811507	140811507	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:140811507G>A	ENST00000509479.2	-	2	1939	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	MAML3_ENST00000327122.5_Silent_p.P205P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	361					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GAGAGTGAGAGGGGTCGCTCT	0.552000													12	50					0	0	0.001368	0	0
TTC40	54777	broad.mit.edu	37	10	134755113	134755113	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:134755113C>T	ENST00000368586.5	-	3	388	c.288G>A	c.(286-288)ccG>ccA	p.P96P	TTC40_ENST00000368582.2_Silent_p.P96P|TTC40_ENST00000368585.3_Silent_p.P96P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCCGACTTCGGGGCACACA	0.577000													14	26					0	0	0.004007	0	0
POLR1A	25885	broad.mit.edu	37	2	86276287	86276287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:86276287G>A	ENST00000263857.6	-	17	2849	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	POLR1A_ENST00000409681.1_Missense_Mutation_p.P824L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	824					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTACCTGGGGCCCGCAGTG	0.557000													38	94					0	0	0.003610	0	0
CES4A	283848	broad.mit.edu	37	16	67029684	67029684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67029684C>T	ENST00000540947.2	+	2	396	c.212C>T	c.(211-213)cCc>cTc	p.P71L	CES4A_ENST00000326686.5_Missense_Mutation_p.P71L|CES4A_ENST00000338718.4_Missense_Mutation_p.P94L|CES4A_ENST00000398354.1_Missense_Mutation_p.P71L|CES4A_ENST00000541479.1_Missense_Mutation_p.P94L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	71						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCTCCAGAACCCCCGGAGCCC	0.567000													46	33					0	0	0.003610	0	0
C10orf25	220979	broad.mit.edu	37	10	45495838	45495838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:45495838G>T	ENST00000298298.1	-	2	385	c.357C>A	c.(355-357)tgC>tgA	p.C119*		NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	119						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						agatgactgagcACGGCCAGG	0.527000													4	17					1.23904e-05	1.99733e-05	0.000602	1	0
CACNA1E	777	broad.mit.edu	37	1	181620538	181620538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181620538C>T	ENST00000526775.1	+	7	1181	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S339F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S290F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S290F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S339F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S339F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	339					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCATTGGATCCTTCTTTGTT	0.433000													28	109					0	0	0.002096	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429862	89429862	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:89429862C>T	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTTATTGATCCATTAGGGTT	0.294000													20	41					0	0	0.002299	0	0
PARP6	56965	broad.mit.edu	37	15	72552844	72552844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72552844G>A	ENST00000569795.1	-	10	1418	c.731C>T	c.(730-732)cCt>cTt	p.P244L	PARP6_ENST00000260376.7_Missense_Mutation_p.P244L|PARP6_ENST00000413097.2_Intron|PARP6_ENST00000287196.9_Missense_Mutation_p.P244L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	244							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGCTGGGGGAGGGAGGCCCAC	0.587000													107	96					0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963608	73963608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:73963608C>T	ENST00000373468.1	-	3	1435	c.784G>A	c.(784-786)Gag>Aag	p.E262K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262K			Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATAAAAGTCTCGAAGTAACCC	0.393000													31	37					0	0	0.002096	0	0
PROL1	58503	broad.mit.edu	37	4	71275199	71275199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71275199C>T	ENST00000399575.2	+	3	328	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	52	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCCCCACCTCCCTATGACTC	0.502000													34	41					0	0	0.003755	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735047	41735047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:41735047C>T	ENST00000352645.4	+	9	925	c.668C>T	c.(667-669)tCc>tTc	p.S223F	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S223F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	239					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCTCCCCTCCACGCCCACG	0.667000													126	107					0	0	0.003610	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163171	139163171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:139163171C>T	ENST00000280612.5	-	1	332	c.53G>A	c.(52-54)gGa>gAa	p.G18E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	18					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GTTAACATTTCCCTGCAGGTA	0.507000													13	27					0	0	0.001368	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729977	37729977	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:37729977G>A	ENST00000330843.4	-	4	2355	c.2343C>T	c.(2341-2343)gtC>gtT	p.V781V	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	781					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATGGAAGGGACTGATGCTC	0.542000													32	16					0	0	0.004289	0	0
BAX	581	broad.mit.edu	37	19	49464238	49464238	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49464238C>T	ENST00000293288.8	+	5	541	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000415969.2_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.L181L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		cccaccgtccctgcccccCGC	0.642000													12	23					0	0	0.001368	0	0
PRSS57	400668	broad.mit.edu	37	19	686997	686997	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:686997G>A	ENST00000329267.7	-	4	602	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	191	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGCCCTTCCAGGAGCTGTTGC	0.642000													9	38					0	0	0.004482	0	0
MYO5A	4644	broad.mit.edu	37	15	52664505	52664505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:52664505G>A	ENST00000399231.3	-	21	2876	c.2633C>T	c.(2632-2634)gCc>gTc	p.A878V	MYO5A_ENST00000356338.6_Missense_Mutation_p.A878V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A878V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A878V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A878V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	878	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTGTGTGCGGGCCAGCCAGCC	0.527000													14	32					0	0	0.001855	0	0
PATL1	219988	broad.mit.edu	37	11	59425053	59425053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59425053G>A	ENST00000300146.9	-	5	655	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	191	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGCCTATGGGGACAGCTCTA	0.537000													23	58					0	0	0.003954	0	0
ALG13	79868	broad.mit.edu	37	X	110951444	110951444	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:110951444T>C	ENST00000394780.3	+	4	585	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.A87A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	191					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483000													3	45					0	0	0.000248	0	0
CCDC68	80323	broad.mit.edu	37	18	52608269	52608269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:52608269C>T	ENST00000591504.1	-	4	437	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC68_ENST00000337363.4_Missense_Mutation_p.E55K|CCDC68_ENST00000432185.1_Missense_Mutation_p.E55K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	55										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGTCTTATTTCATCTTTAAAC	0.323000													10	40					0	0	0.000673	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468095	66468095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66468095G>A	ENST00000533211.1	-	17	3806	c.3475C>T	c.(3475-3477)Cga>Tga	p.R1159*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.R1159*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.R1159*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1159					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCCACATTCGGCCCAGCTCC	0.692000													33	21					0	0	0.003755	0	0
CACNA1E	777	broad.mit.edu	37	1	181759674	181759674	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:181759674C>T	ENST00000526775.1	+	43	5988	c.5823C>T	c.(5821-5823)ttC>ttT	p.F1941F	CACNA1E_ENST00000360108.3_Silent_p.F1941F|CACNA1E_ENST00000358338.5_Silent_p.F1892F|CACNA1E_ENST00000357570.5_Silent_p.F1911F|CACNA1E_ENST00000367567.4_Silent_p.F1567F|CACNA1E_ENST00000367570.1_Silent_p.F1960F|CACNA1E_ENST00000367573.2_Silent_p.F1960F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1960					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGGACAGTTCCAAGAACGGC	0.473000													9	55					0	0	0.006214	0	0
NR6A1	2649	broad.mit.edu	37	9	127316621	127316621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127316621C>T	ENST00000487099.2	-	3	528	c.371G>A	c.(370-372)gGg>gAg	p.G124E	NR6A1_ENST00000373584.3_Missense_Mutation_p.G120E|NR6A1_ENST00000344523.4_Missense_Mutation_p.G124E|NR6A1_ENST00000416460.2_Missense_Mutation_p.G120E	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	124					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCGGTTCATCCCCATCTGGAG	0.493000													25	73					0	0	0.005443	0	0
SCN9A	6335	broad.mit.edu	37	2	167151135	167151135	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:167151135G>A	ENST00000375387.4	-	8	1282	c.942C>T	c.(940-942)ctC>ctT	p.L314L	SCN9A_ENST00000409435.1_Silent_p.L313L|SCN9A_ENST00000303354.6_Silent_p.L314L|SCN9A_ENST00000409672.1_Silent_p.L313L|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	313						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACCACAAAGGAGAGCATCTT	0.328000													14	10					0	0	0.003163	0	0
DCLK2	166614	broad.mit.edu	37	4	151023715	151023715	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:151023715C>T	ENST00000296550.7	+	2	1261	c.507C>T	c.(505-507)atC>atT	p.I169I	DCLK2_ENST00000302176.8_Silent_p.I169I|DCLK2_ENST00000506325.1_Silent_p.I169I	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	169					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGTGAACATCAAGGGTGGGA	0.408000													26	13					0	0	0.005443	0	0
OR6C2	341416	broad.mit.edu	37	12	55846911	55846911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55846911G>A	ENST00000322678.1	+	1	914	c.914G>A	c.(913-915)aGg>aAg	p.R305K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCTATAAAGAGGATTGCATTT	0.388000													14	90					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13766175C>T	ENST00000265104.4	-	59	10115	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3337	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome				24	103					0	0	0.003954	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986117	31986117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:31986117G>A	ENST00000329122.2	-	1	132	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	36						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GCCACAGCAGGAGCCATAGCC	0.612000													31	46					0	0	0.004289	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409565	153409565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153409565C>T	ENST00000368725.2	-	3	307	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGTGCCACTCCATGCATTAT	0.468000													48	173					0	0	0.003610	0	0
ZNF708	7562	broad.mit.edu	37	19	21477443	21477443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:21477443G>A	ENST00000356929.3	-	4	522	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CAGCCTTTCTGATATCCACAT	0.398000													27	69					0	0	0.002445	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855155	79855155	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:79855155G>A	ENST00000338682.3	-	5	1356	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	228						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCCTCACAGGGGAACCTGGGT	0.527000													7	57					0	0	0.001984	0	0
MMP19	4327	broad.mit.edu	37	12	56236179	56236179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56236179C>T	ENST00000322569.4	-	2	222	c.131G>A	c.(130-132)gGa>gAa	p.G44E	MMP19_ENST00000409200.3_Missense_Mutation_p.G44E|MMP19_ENST00000548629.1_Missense_Mutation_p.G44E|MMP19_ENST00000547487.1_5'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	44					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTTATTAGATCCTTCTAGAGG	0.458000													32	313					0	0	0.007835	0	0
SUGP2	10147	broad.mit.edu	37	19	19112431	19112431	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:19112431G>A	ENST00000601879.1	-	8	3279	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S	SUGP2_ENST00000337018.6_Silent_p.S994S|SUGP2_ENST00000456085.2_Silent_p.S763S|SUGP2_ENST00000600377.1_Silent_p.S1008S|SUGP2_ENST00000452918.2_Silent_p.S994S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	994					mRNA processing|RNA splicing	nucleus	RNA binding	p.S994S(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTCTTTTTGGACATGGGAC	0.433000													14	60					0	0	0.002450	0	0
HGD	3081	broad.mit.edu	37	3	120360535	120360535	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:120360535G>A	ENST00000283871.5	-	11	1239	c.780C>T	c.(778-780)gtC>gtT	p.V260V		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	260					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGAACGGGGAGACATCCTAAA	0.413000													19	75					0	0	0.001523	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007339	32007339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32007339C>T	ENST00000418967.2	+	5	724	c.566C>T	c.(565-567)cCt>cTt	p.P189L	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P159L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	188					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AACTTAATGCCTGCCTATTAC	0.542000													107	56					0	0	0.003610	0	0
CTSS	1520	broad.mit.edu	37	1	150720314	150720314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:150720314C>T	ENST00000368985.3	-	7	1095	c.835G>A	c.(835-837)Ggt>Agt	p.G279S	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G229S	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	279					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACAAGTACACCATGATTCACA	0.348000													71	39					0	0	0.003610	0	0
KCNK9	51305	broad.mit.edu	37	8	140630829	140630829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:140630829C>T	ENST00000520439.1	-	2	860	c.797G>A	c.(796-798)gGa>gAa	p.G266E	KCNK9_ENST00000303015.1_Missense_Mutation_p.G266E			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	266						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GTTGCGGTTTCCGGCGAGGGA	0.632000													18	36					0	0	0.001216	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250642	140250642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140250642G>A	ENST00000398640.2	+	1	1954	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGTGAAGGATCACGGTGA	0.672000													22	36					0	0	0.001523	0	0
CAGE1	285782	broad.mit.edu	37	6	7373578	7373578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7373578G>A	ENST00000502583.1	-	5	2038	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q492*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q492*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q356*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.Q492*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	492										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TCAAGTTTCTGGAATTCCTCC	0.378000													21	16					0	0	0.001523	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727911	31727911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31727911C>T	ENST00000493662.2	+	19	1837	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	MSH5_ENST00000375742.3_Missense_Mutation_p.S594F|MSH5_ENST00000431848.2_Missense_Mutation_p.S276F|MSH5_ENST00000375740.3_Missense_Mutation_p.S594F|MSH5_ENST00000375703.3_Missense_Mutation_p.S577F|MSH5_ENST00000375750.3_Missense_Mutation_p.S577F|MSH5_ENST00000375755.3_Missense_Mutation_p.S577F|MSH5_ENST00000534153.4_Missense_Mutation_p.S594F|MSH5_ENST00000395853.1_Missense_Mutation_p.S251F																							GTGCCCAACTCCACAGAATGT	0.542000													265	400					0	0	0.003610	0	0
ACAA1	30	broad.mit.edu	37	3	38169316	38169316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38169316C>T	ENST00000333167.8	-	7	759	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.R44Q|ACAA1_ENST00000301810.7_Missense_Mutation_p.R163Q|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.R155Q	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	196					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTGCTTCTCCCGTGAAATGCC	0.502000													14	52					0	0	0.004007	0	0
COL4A3	1285	broad.mit.edu	37	2	228128652	228128652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228128652G>A	ENST00000396578.3	+	21	1469	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	436	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGACCTCCAGGACCGCCAGGT	0.587000													13	29					0	0	0.002450	0	0
MYH14	79784	broad.mit.edu	37	19	50812353	50812353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:50812353G>A	ENST00000440075.2	+	42	5926	c.5879G>A	c.(5878-5880)aGg>aAg	p.R1960K	MYH14_ENST00000601313.1_Missense_Mutation_p.R1960K|MYH14_ENST00000598205.1_Missense_Mutation_p.R1927K|MYH14_ENST00000596571.1_Missense_Mutation_p.R1919K|MYH14_ENST00000425460.1_Missense_Mutation_p.R1927K|MYH14_ENST00000376970.2_Missense_Mutation_p.R1952K|MYH14_ENST00000262269.8_Missense_Mutation_p.R1960K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1919					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCGCCGGAGGCTGCAGCGT	0.622000													19	48					0	0	0.007413	0	0
CD1E	913	broad.mit.edu	37	1	158325175	158325175	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158325175C>T	ENST00000444681.2	+	2	437	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CD1E_ENST00000368161.3_Silent_p.F147F|CD1E_ENST00000434258.1_Silent_p.F145F|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Silent_p.F147F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Silent_p.F147F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Silent_p.F147F|CD1E_ENST00000452291.2_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	147					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGTCAGATTTCCTGAGTTTCC	0.468000													29	101					0	0	0.007291	0	0
SERBP1	26135	broad.mit.edu	37	1	67880961	67880961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:67880961G>A	ENST00000370994.4	-	7	1109	c.995C>T	c.(994-996)tCt>tTt	p.S332F	SERBP1_ENST00000361219.6_Missense_Mutation_p.S338F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S353F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S347F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	353					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTCCAGCTGAGACGTTATATC	0.517000													28	31					0	0	0.001786	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601588	58601588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58601588G>A	ENST00000240727.6	-	2	446	c.47C>T	c.(46-48)gCc>gTc	p.A16V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A72V|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A16V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCCGGCGGGGCTGGGGAGCT	0.627000													14	60					0	0	0.006122	0	0
RRS1	23212	broad.mit.edu	37	8	67342116	67342116	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:67342116G>T	ENST00000320270.2	+	1	854	c.750G>T	c.(748-750)aaG>aaT	p.K250N		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	250					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTCCGGCAAGAAAAGGAAGT	0.597000													11	34					9.31168e-06	1.50177e-05	0.001855	1	0
KLK7	5650	broad.mit.edu	37	19	51483678	51483678	+	Missense_Mutation	SNP	G	G	A	rs149466250	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:51483678G>A	ENST00000391807.1	-	4	388	c.287C>T	c.(286-288)tCg>tTg	p.S96L	KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000597707.1_Missense_Mutation_p.S24L|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.S96L	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	96	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GAATGACTTCGAGGCCTTGAT	0.557000													16	36					0	0	0.006122	0	0
MIB1	57534	broad.mit.edu	37	18	19429261	19429261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:19429261C>T	ENST00000261537.6	+	17	2762	c.2498C>T	c.(2497-2499)cCa>cTa	p.P833L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	833					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTTTTGGTCCATGTGGACAT	0.393000													45	105					0	0	0.003610	0	0
DDI1	414301	broad.mit.edu	37	11	103907792	103907792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:103907792G>A	ENST00000302259.3	+	1	485	c.242G>A	c.(241-243)gGa>gAa	p.G81E	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACAATGTGGGACCTCGGGCT	0.607000													81	85					0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123419176	123419176	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:123419176G>A	ENST00000360772.3	-	19	3517	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	MYLK_ENST00000475616.1_Silent_p.L1047L|MYLK_ENST00000360304.3_Silent_p.L1047L|MYLK_ENST00000359169.1_Silent_p.L1047L|MYLK_ENST00000346322.5_Silent_p.L978L			Q15746	MYLK_HUMAN	myosin light chain kinase	1047	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGGGCTTCAGGGTCTCGGCA	0.547000													152	135					0	0	0.003610	0	0
F2RL1	2150	broad.mit.edu	37	5	76128740	76128740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:76128740G>A	ENST00000296677.4	+	2	514	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	103					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTTCTTTTCCGAACTAAGAAG	0.478000													450	233					0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071103	240071103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:240071103G>A	ENST00000255380.4	+	5	1131	c.352G>A	c.(352-354)Ggg>Agg	p.G118R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	118					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCTGATTATCGGGGTCATTTC	0.478000													15	58					0	0	0.004007	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749403	62749403	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62749403G>A	ENST00000377871.3	-	4	974	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SLC22A6_ENST00000458333.2_Silent_p.L236L|SLC22A6_ENST00000360421.4_Silent_p.L236L|SLC22A6_ENST00000421062.2_Silent_p.L236L|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	236					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L236L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACCAGCCAGGAGGAACTGGC	0.592000													15	15					0	0	0.002450	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871204	8871204	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:8871204G>A	ENST00000256707.3	-	30	5143	c.4962C>T	c.(4960-4962)tcC>tcT	p.S1654S	KIDINS220_ENST00000418530.1_Silent_p.S1555S|KIDINS220_ENST00000427284.1_Silent_p.S1635S|KIDINS220_ENST00000473731.1_Silent_p.S1635S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1654					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTGCATTCGGAAGGGCTTT	0.517000													31	43					0	0	0.002096	0	0
MSH3	4437	broad.mit.edu	37	5	80037355	80037355	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:80037355C>T	ENST00000265081.6	+	11	1721	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	547					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCTGGAAATCCTACAGAATC	0.333000								Mismatch excision repair (MMR)					13	76					0	0	0.002450	0	0
ITIH4	3700	broad.mit.edu	37	3	52858519	52858519	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52858519G>A	ENST00000266041.4	-	8	1035	c.939C>T	c.(937-939)atC>atT	p.I313I	ITIH4_ENST00000485816.1_Silent_p.I313I|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Silent_p.I313I|ITIH4_ENST00000434759.3_Silent_p.I225I|ITIH4_ENST00000406595.1_Silent_p.I313I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	313	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TACTGAAGACGATGAGGTTGA	0.577000													32	25					0	0	0.004289	0	0
PIK3R1	5295	broad.mit.edu	37	5	67586659	67586659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:67586659C>T	ENST00000336483.5	+	1	195	c.103C>T	c.(103-105)Cca>Tca	p.P35S	PIK3R1_ENST00000274335.5_Intron|PIK3R1_ENST00000521381.1_Intron|PIK3R1_ENST00000320694.8_Intron|PIK3R1_ENST00000396611.1_Intron|PIK3R1_ENST00000521657.1_Intron	NM_181504.3	NP_852556.2	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	305	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATGGACCCACCAGGTAATAC	0.328000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			7	40					0	0	0.004482	0	0
OR2L8	391190	broad.mit.edu	37	1	248112235	248112235	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248112235T>C	ENST00000357191.3	+	1	76	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGACCTTTTCTTCTTCATTCT	0.393000													122	76					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:52321203C>T	ENST00000356297.4	-	17	3081	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000													6	10					0	0	0.001168	0	0
NUP153	9972	broad.mit.edu	37	6	17649490	17649490	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:17649490G>A	ENST00000262077.2	-	12	1436	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	NUP153_ENST00000537253.1_Silent_p.I510I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	479					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAGAACTGGTGATCGGTAGAG	0.373000													12	85					0	0	0.001368	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917379	65917379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65917379G>A	ENST00000261892.6	+	2	1248	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SLC24A1_ENST00000399033.4_Missense_Mutation_p.G321R|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G321R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G321R|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G321R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G321R	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	321					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTCTGAGGGGCAGGTGAC	0.567000													42	45					0	0	0.006230	0	0
ULBP3	79465	broad.mit.edu	37	6	150387223	150387223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:150387223C>T	ENST00000367339.1	-	2	192	c.164G>A	c.(163-165)aGc>aAc	p.S55N	ULBP3_ENST00000438272.2_Missense_Mutation_p.S55N			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	55	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCACCTGGCTCTGGACCTC	0.463000													51	17					0	0	0.003610	0	0
CACNA1D	776	broad.mit.edu	37	3	53757543	53757543	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:53757543C>T	ENST00000288139.3	+	14	1927	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	CACNA1D_ENST00000422281.2_Silent_p.F583F|CACNA1D_ENST00000350061.5_Silent_p.F583F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	583					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGCATATTTCGTCTCTCTTT	0.488000													41	132					0	0	0.002222	0	0
FGF8	2253	broad.mit.edu	37	10	103530315	103530315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:103530315G>A	ENST00000347978.2	-	5	588	c.419C>T	c.(418-420)gCg>gTg	p.A140V	FGF8_ENST00000346714.3_Missense_Mutation_p.A129V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.A158V|FGF8_ENST00000320185.2_Missense_Mutation_p.A169V	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	158					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ATTCTGCAGCGCTGTGTAGTT	0.622000													10	41					0	0	0.000978	0	0
TRPC4	7223	broad.mit.edu	37	13	38320211	38320211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38320211C>T	ENST00000379705.3	-	3	1617	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.D254N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D254N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379681.3_Missense_Mutation_p.D254N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D254N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	254	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCAGTAGGTCCTTAGCAAAT	0.413000													29	46					0	0	0.002096	0	0
CHD3	1107	broad.mit.edu	37	17	7806292	7806292	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7806292C>T	ENST00000380358.4	+	22	3586	c.3585C>T	c.(3583-3585)acC>acT	p.T1195T	CHD3_ENST00000330494.7_Silent_p.T1136T|CHD3_ENST00000358181.4_Silent_p.T1136T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1136	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCCTGTCCACCCGAGCTGGGG	0.547000													13	48					0	0	0.001855	0	0
TAL2	6887	broad.mit.edu	37	9	108425076	108425076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:108425076C>T	ENST00000334077.3	+	1	339	c.299C>T	c.(298-300)tCa>tTa	p.S100L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CAGGTTCCTTCACCTGGTCCA	0.572000			T	TRB@	T-ALL								11	7					0	0	0.000978	0	0
FAM111B	374393	broad.mit.edu	37	11	58893522	58893522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58893522G>A	ENST00000343597.3	+	4	2143	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	FAM111B_ENST00000411426.1_Missense_Mutation_p.G621D|FAM111B_ENST00000529618.1_Missense_Mutation_p.G621D	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	651							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGGTCCTCAGGCTCCCCAGTG	0.398000													31	29					0	0	0.002096	0	0
FAM47A	158724	broad.mit.edu	37	X	34150306	34150306	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:34150306G>A	ENST00000346193.3	-	1	141	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	30								p.F30F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCACTTCGCGAAGCACTTGG	0.617000													46	7					0	0	0.003610	0	0
CD164L2	388611	broad.mit.edu	37	1	27706630	27706630	+	Silent	SNP	G	G	A	rs145796710	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:27706630G>A	ENST00000374027.3	-	5	492	c.429C>T	c.(427-429)atC>atT	p.I143I	CD164L2_ENST00000374030.1_Silent_p.I143I	NM_207397.2	NP_997280.1	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	143						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGACACCTCCGATAAAGCTGG	0.612000													25	42					0	0	0.004656	0	0
SLC38A1	81539	broad.mit.edu	37	12	46582833	46582833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:46582833C>T	ENST00000398637.5	-	17	2078	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	SLC38A1_ENST00000549049.1_Missense_Mutation_p.G462R|SLC38A1_ENST00000439706.1_Missense_Mutation_p.G462R|SLC38A1_ENST00000546893.1_Missense_Mutation_p.G462R	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	462					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AACAACACCCCCAGGCCCAAG	0.483000													19	48					0	0	0.001882	0	0
LDB2	9079	broad.mit.edu	37	4	16590354	16590354	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:16590354C>T	ENST00000502640.1	-	4	658	c.510G>A	c.(508-510)ccG>ccA	p.P170P	LDB2_ENST00000503178.2_Silent_p.P46P|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Silent_p.P170P|LDB2_ENST00000515064.1_Silent_p.P170P|LDB2_ENST00000441778.2_Silent_p.P170P			O43679	LDB2_HUMAN	LIM domain binding 2	170							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGATGCTTCTCGGGACTAACT	0.388000													19	27					0	0	0.001882	0	0
DNAH2	146754	broad.mit.edu	37	17	7682739	7682739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7682739C>T	ENST00000572933.1	+	36	7180	c.5720C>T	c.(5719-5721)cCt>cTt	p.P1907L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P1907L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1907	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCATGAATCCTGGTAGGTGG	0.537000													12	17					0	0	0.001855	0	0
GALP	85569	broad.mit.edu	37	19	56688529	56688529	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:56688529C>T	ENST00000357330.2	+	2	134	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	GALP_ENST00000590002.1_Silent_p.L18L|GALP_ENST00000440823.1_Silent_p.L18L	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	18					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTTGCTGAGCCTGGCAGAGAC	0.622000													7	29					0	0	0.004482	0	0
NEB	4703	broad.mit.edu	37	2	152534195	152534195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:152534195C>T	ENST00000427231.2	-	34	3860	c.3658G>A	c.(3658-3660)Ggt>Agt	p.G1220S	NEB_ENST00000603639.1_Missense_Mutation_p.G1220S|NEB_ENST00000604864.1_Missense_Mutation_p.G1220S|NEB_ENST00000409198.1_Missense_Mutation_p.G1220S|NEB_ENST00000172853.10_Missense_Mutation_p.G1220S|NEB_ENST00000397345.3_Missense_Mutation_p.G1220S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1220					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)		AGAGCATCACCGGCCTTTTTA	0.453000													52	177					0	0	0.003610	0	0
DZIP1L	199221	broad.mit.edu	37	3	137781670	137781670	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137781670G>A	ENST00000327532.2	-	16	2654	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	764						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACCAGGCAGGGACCCTGGGTT	0.597000													90	251					0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130408083	130408083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:130408083C>T	ENST00000370904.1	-	25	4732	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W1288*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W1283*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W1274*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1283					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCACTTCTTCCACTCTATGG	0.507000													57	67					0	0	0.003610	0	0
IL1R1	3554	broad.mit.edu	37	2	102782592	102782592	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:102782592T>G	ENST00000410023.1	+	6	824	c.506T>G	c.(505-507)cTt>cGt	p.L169R	IL1R1_ENST00000424272.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409329.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409288.1_Missense_Mutation_p.L169R|IL1R1_ENST00000233946.3_Missense_Mutation_p.L169R			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	169	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CCTCTACTTCTTGACAATATA	0.398000													23	17					0	0	0.003330	0	0
TOX2	84969	broad.mit.edu	37	20	42694442	42694442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42694442G>A	ENST00000358131.5	+	6	1205	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	TOX2_ENST00000341197.3_Missense_Mutation_p.G351S|TOX2_ENST00000372999.1_Missense_Mutation_p.G309S|TOX2_ENST00000435864.2_Missense_Mutation_p.G229S|TOX2_ENST00000423191.1_Missense_Mutation_p.G309S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCATGCCAGGCCTGGCCTC	0.652000													103	96					0	0	0.003610	0	0
GPC5	2262	broad.mit.edu	37	13	93518683	93518683	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:93518683G>A	ENST00000377067.3	+	8	2082	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	570						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TACTTCCCGGGATTTGGTAAC	0.433000													29	34					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9085046	9085046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9085046C>T	ENST00000397910.4	-	1	6972	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2257	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCAGTATCAGGGGAGGGG	0.463000													17	14					0	0	0.006122	0	0
CEP97	79598	broad.mit.edu	37	3	101446231	101446231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:101446231C>T	ENST00000341893.3	+	3	943	c.191C>T	c.(190-192)tCa>tTa	p.S64L	CEP97_ENST00000327230.4_Missense_Mutation_p.S64L|CEP97_ENST00000494050.1_Missense_Mutation_p.S64L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	64						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACAGTTATCAGTAGCTAAT	0.348000													18	54					0	0	0.001216	0	0
PHF2	5253	broad.mit.edu	37	9	96429433	96429433	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:96429433C>T	ENST00000359246.4	+	17	2626	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	753					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ATGCCAGAGTCAAGAAGGAGA	0.642000													14	17					0	0	0.002450	0	0
T	6862	broad.mit.edu	37	6	166571986	166571986	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:166571986G>A	ENST00000296946.2	-	9	1593	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	T_ENST00000366871.3_Silent_p.F317F	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	375					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCCCCGGAAGAACTGGGCCC	0.701000									Chordoma, Familial Clustering of				20	1					0	0	0.007413	0	0
TLL2	7093	broad.mit.edu	37	10	98155732	98155732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:98155732G>A	ENST00000357947.3	-	12	1655	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	477	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATAGTTGGGAGATTGAATCTG	0.498000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0.007291	0	0
FSCN3	29999	broad.mit.edu	37	7	127236431	127236431	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:127236431C>T	ENST00000265825.5	+	3	1110	c.891C>T	c.(889-891)ttC>ttT	p.F297F	FSCN3_ENST00000420086.2_Silent_p.F163F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	297						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTCCTTGTTCCAGTTTGAAT	0.542000													37	225					0	0	0.004878	0	0
MUSK	4593	broad.mit.edu	37	9	113547100	113547100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113547100C>T	ENST00000416899.2	+	10	1492	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000374448.4_Missense_Mutation_p.P464S|MUSK_ENST00000189978.5_Missense_Mutation_p.P464S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	464					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TACAGCATTCCCACCAATGAC	0.348000													20	28					0	0	0.001216	0	0
USP29	57663	broad.mit.edu	37	19	57641478	57641478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57641478G>A	ENST00000254181.4	+	4	1889	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	USP29_ENST00000598197.1_Missense_Mutation_p.E479K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	479					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTCTTTAAAGAAGAAGAGCT	0.373000													40	53					0	0	0.006999	0	0
ITPKC	80271	broad.mit.edu	37	19	41235202	41235202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:41235202C>T	ENST00000263370.2	+	3	1384	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	451						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGCTGCGACCTTTCGTGCC	0.557000													16	35					0	0	0.001216	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644272	45644272	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:45644272G>A	ENST00000427229.2	+	0	443																											CCAAATCAGGGAAATTCATCT	0.373000													13	19					0	0	0.001855	0	0
PRSS50	29122	broad.mit.edu	37	3	46758961	46758961	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46758961G>A	ENST00000460241.1	-	7	1943	c.273C>T	c.(271-273)ttC>ttT	p.F91F	PRSS50_ENST00000315170.7_Silent_p.F91F			Q9UI38	TSP50_HUMAN	protease, serine, 50	91					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGAAACTGGGAATTGGGTCT	0.607000													14	41					0	0	0.007413	0	0
OR12D3	81797	broad.mit.edu	37	6	29342252	29342252	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:29342252C>T	ENST00000396806.3	-	1	816	c.813G>A	c.(811-813)cgG>cgA	p.R271R	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGGCCATTATCCGGTCCTGAA	0.463000													16	72					0	0	0.003163	0	0
SLC5A11	115584	broad.mit.edu	37	16	24881266	24881266	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:24881266C>T	ENST00000347898.3	+	4	874	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SLC5A11_ENST00000539472.1_Silent_p.F20F|SLC5A11_ENST00000424767.2_Silent_p.F84F|SLC5A11_ENST00000567758.1_Silent_p.F84F|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Silent_p.F20F|SLC5A11_ENST00000565769.1_Silent_p.F20F|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000569071.1_Silent_p.F20F	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	84					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GTGGACATTTCATTGGCCTGG	0.488000													22	39					0	0	0.004656	0	0
PTCD2	79810	broad.mit.edu	37	5	71631620	71631620	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71631620G>A	ENST00000380639.5	+	6	563		c.e6-1		PTCD2_ENST00000536805.1_Splice_Site|PTCD2_ENST00000503868.1_Splice_Site|PTCD2_ENST00000543322.1_Splice_Site|PTCD2_ENST00000460837.2_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ACTTTTGGCAGGTGCTTTGCA	0.408000													37	17					0	0	0.006999	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456851	25456851	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25456851C>T	ENST00000424208.1	+	0	2482				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AGCTCAGGCCCTTCCTGGCCC	0.617000													24	21					0	0	0.002299	0	0
CELSR1	9620	broad.mit.edu	37	22	46932282	46932282	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:46932282G>A	ENST00000262738.3	-	1	785	c.786C>T	c.(784-786)acC>acT	p.T262T	CELSR1_ENST00000395964.1_Silent_p.T262T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	262	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGAGGATGAGGGTGCCCGCCG	0.667000													56	21					0	0	0.003610	0	0
SLC34A1	6569	broad.mit.edu	37	5	176821091	176821091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176821091G>A	ENST00000324417.5	+	10	1160	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	SLC34A1_ENST00000513614.1_Intron	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	357					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTGCTGGCAGGATCCCTGGT	0.602000													38	218					0	0	0.002852	0	0
OR2T6	254879	broad.mit.edu	37	1	248551537	248551537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248551537C>T	ENST00000355728.2	+	1	628	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			GCTGCTGATCCCCTTCTCGGT	0.532000													19	53					0	0	0.001523	0	0
CILP	8483	broad.mit.edu	37	15	65490910	65490910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65490910G>A	ENST00000261883.4	-	9	1880	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	572					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTTTTCCGACGAAGCATCTTG	0.507000													32	41					0	0	0.002836	0	0
GPR137	56834	broad.mit.edu	37	11	64056833	64056833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64056833C>T	ENST00000411458.1	+	9	1452	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P417L|GPR137_ENST00000438980.2_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	417						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTGCCGTCCCCCTAGGATGGG	0.652000													33	33					0	0	0.003271	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:185802718C>T	ENST00000302277.6	+	4	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	865						intracellular	zinc ion binding	p.I865I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCAAAAATCGAAAGGAACT	0.358000													17	23					0	0	0.007413	0	0
MICA	100507436	broad.mit.edu	37	6	31379747	31379747	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:31379747C>G	ENST00000449934.2	+	4	691	c.637C>G	c.(637-639)Cgc>Ggc	p.R213G	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	213	Ig-like C1-type.				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAATGTCACCCGCAGCGAGGC	0.572000													41	24					0	0	0.003610	0	0
LBP	3929	broad.mit.edu	37	20	36999435	36999435	+	Silent	SNP	C	C	T	rs146457097	byFrequency	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:36999435C>T	ENST00000217407.2	+	11	1364	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	401					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCACTGGGTTCCTGAAGCCAG	0.527000													52	232					0	0	0.003610	0	0
ZNF416	55659	broad.mit.edu	37	19	58084958	58084958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:58084958G>A	ENST00000196489.3	-	4	536	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	105	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CATGTCACAGGATTGAATCTT	0.522000													25	28					0	0	0.003330	0	0
GPR78	27201	broad.mit.edu	37	4	8588793	8588793	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:8588793C>T	ENST00000382487.4	+	3	1212	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	265					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCGGAGCTCGTGCCCTTCG	0.637000													6	8					0	0	0.001168	0	0
CILP	8483	broad.mit.edu	37	15	65489927	65489927	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:65489927G>A	ENST00000261883.4	-	9	2863	c.2697C>T	c.(2695-2697)ctC>ctT	p.L899L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	899					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACATGCCCGGAGGTTCTCAA	0.532000													29	44					0	0	0.007291	0	0
ARRDC2	27106	broad.mit.edu	37	19	18120704	18120704	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:18120704G>A	ENST00000222250.4	+	5	848	c.705G>A	c.(703-705)caG>caA	p.Q235Q	ARRDC2_ENST00000379656.2_Silent_p.Q230Q	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	235										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CCCGAAAGCAGAAACGGGCAG	0.706000													20	32					0	0	0.007413	0	0
DAOA	267012	broad.mit.edu	37	13	106124949	106124949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:106124949G>A	ENST00000375936.3	+	3	242	c.196G>A	c.(196-198)Gag>Aag	p.E66K	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	66						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GAGAAGGCATGAGGACGGCTA	0.413000													14	7					0	0	0.001855	0	0
HERC1	8925	broad.mit.edu	37	15	64067531	64067531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:64067531G>A	ENST00000443617.2	-	2	379	c.292C>T	c.(292-294)Cca>Tca	p.P98S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	98					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCGGCAAATGGGGAATCTGAA	0.458000													25	29					0	0	0.002780	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725570	3725570	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:3725570G>A	ENST00000254963.2	+	5	433	c.288G>A	c.(286-288)ccG>ccA	p.P96P	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	96							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCGGAGACCCGGGCGTGGCCC	0.632000													22	11					0	0	0.001882	0	0
KNDC1	85442	broad.mit.edu	37	10	135032539	135032539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:135032539G>A	ENST00000304613.3	+	28	4826	c.4805G>A	c.(4804-4806)tGg>tAg	p.W1602*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.W1604*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1602	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTTCAGGCCTGGAGAATTCTG	0.657000													13	13					0	0	0.001855	0	0
EPPK1	83481	broad.mit.edu	37	8	144947005	144947005	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:144947005C>T	ENST00000525985.1	-	2	488	c.417G>A	c.(415-417)aaG>aaA	p.K139K				P58107	EPIPL_HUMAN	epiplakin 1	139						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACAACCTCCTTCCCGATGG	0.677000													6	22					0	0	0.001984	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921091	12921091	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:12921091C>T	ENST00000240189.2	+	4	969	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	294										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGAACCCCTTGGAGAACT	0.458000													21	59					0	0	0.003330	0	0
ODF2	4957	broad.mit.edu	37	9	131254717	131254717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:131254717C>T	ENST00000303890.5	+	17	2062	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	ODF2_ENST00000434106.2_Missense_Mutation_p.P517S|ODF2_ENST00000351030.3_Missense_Mutation_p.P512S|ODF2_ENST00000546203.1_Missense_Mutation_p.P498S|ODF2_ENST00000393533.2_Missense_Mutation_p.P517S|ODF2_ENST00000372791.3_Missense_Mutation_p.P498S|ODF2_ENST00000448249.3_Missense_Mutation_p.P436S|ODF2_ENST00000372807.5_Missense_Mutation_p.P512S|ODF2_ENST00000372814.3_Missense_Mutation_p.P561S|ODF2_ENST00000372796.4_Missense_Mutation_p.P517S|ODF2_ENST00000444119.2_Missense_Mutation_p.P493S	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	517					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCTTTGCTCCAATGGAGGA	0.507000													15	36					0	0	0.006122	0	0
NOMO1	23420	broad.mit.edu	37	16	14947412	14947412	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:14947412A>C	ENST00000287667.7	+	8	995	c.824A>C	c.(823-825)gAa>gCa	p.E275A	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	275						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTCCAGAGAAGATGGCTCG	0.517000													106	123					0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153029980	153029980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:153029980G>A	ENST00000285900.5	+	4	894	c.551G>A	c.(550-552)gGa>gAa	p.G184E	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.G194E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G115E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G104E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G184E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G194E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	184					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAGAGGAGGGATACCGGATG	0.512000													20	85					0	0	0.002299	0	0
DSP	1832	broad.mit.edu	37	6	7583607	7583607	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7583607A>G	ENST00000379802.3	+	24	6453	c.6112A>G	c.(6112-6114)Aaa>Gaa	p.K2038E	DSP_ENST00000418664.2_Missense_Mutation_p.K1439E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2038	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAGAGAAAGAAATTAATCAG	0.488000													36	79					0	0	0.004289	0	0
ZNF878	729747	broad.mit.edu	37	19	12155424	12155424	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:12155424G>A	ENST00000602107.1	-	5	932	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.F264F|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	264					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						TGGGACAATTGAAGGCTTTAT	0.408000													34	21					0	0	0.002445	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139298	93139298	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:93139298G>A	ENST00000344636.3	+	5	430	c.246G>A	c.(244-246)ctG>ctA	p.L82L	PLEKHG7_ENST00000549856.1_Silent_p.L82L	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	82	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CCTACTGCCTGAACTATTCAG	0.403000													56	16					0	0	0.003610	0	0
RADIL	55698	broad.mit.edu	37	7	4839353	4839353	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:4839353C>T	ENST00000399583.3	-	14	3217	c.3030G>A	c.(3028-3030)ccG>ccA	p.P1010P	RADIL_ENST00000538469.1_Silent_p.P770P|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1010	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGGCTGCCCGGGAGCAGGG	0.716000													12	3					0	0	0.002450	0	0
SI	6476	broad.mit.edu	37	3	164776809	164776809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:164776809C>T	ENST00000264382.3	-	12	1402	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	447	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTGTGTTTCCCCTCTCATA	0.353000										HNSCC(35;0.089)			11	17					0	0	0.001855	0	0
MKI67	4288	broad.mit.edu	37	10	129911697	129911697	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129911697G>A	ENST00000368654.3	-	8	2025	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	MKI67_ENST00000368653.3_Silent_p.I190I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	550					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCACCTTGATGATTTTCTTCA	0.458000													39	95					0	0	0.007835	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248039313G>A	ENST00000366481.3	+	6	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	328	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCCTGAGCGATTTGACACA	0.602000													33	23					0	0	0.002445	0	0
MED12L	116931	broad.mit.edu	37	3	151094947	151094947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:151094947G>A	ENST00000474524.1	+	28	4230	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1258R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1398					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGACAGAATGGAATAAAGAC	0.368000													8	29					0	0	0.000978	0	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:1168853G>A	ENST00000308624.5	+	8	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000													81	76					0	0	0.003610	0	0
ROR1	4919	broad.mit.edu	37	1	64643679	64643679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:64643679C>T	ENST00000371079.1	+	9	2330	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	ROR1_ENST00000545203.1_Missense_Mutation_p.S103F	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGAGTAAGTCCTTGCTGCCC	0.453000													22	39					0	0	0.002780	0	0
CAMK2A	815	broad.mit.edu	37	5	149602733	149602733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149602733G>A	ENST00000348628.6	-	17	1917	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	CAMK2A_ENST00000398376.3_Missense_Mutation_p.H429Y|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	418					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGGATGTGGGGATTCAGG	0.652000													9	71					0	0	0.000978	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:19378093G>A	ENST00000550708.1	+	1	572	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000													28	402					0	0	0.003610	0	0
LONP2	83752	broad.mit.edu	37	16	48381495	48381495	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:48381495G>A	ENST00000285737.4	+	13	2109	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	LONP2_ENST00000535754.1_Silent_p.V628V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	672					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCATGTTCGTGGAGGCGAGTC	0.547000													31	16					0	0	0.003755	0	0
GRIK3	2899	broad.mit.edu	37	1	37356674	37356674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:37356674C>T	ENST00000373091.3	-	2	155	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	GRIK3_ENST00000373093.4_Missense_Mutation_p.G47S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	47					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCGTTGGGGCCGTCCGCATAC	0.512000													47	52					0	0	0.003610	0	0
BAZ2A	11176	broad.mit.edu	37	12	57011244	57011244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57011244G>A	ENST00000179765.5	-	2	270	c.71C>T	c.(70-72)tCt>tTt	p.S24F	BAZ2A_ENST00000551812.1_Missense_Mutation_p.S26F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S26F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S24F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	26					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGAGGAAGGAGAGGGTTTCAG	0.557000													4	49					0	0	0.000602	0	0
SCN11A	11280	broad.mit.edu	37	3	38968311	38968311	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38968311G>A	ENST00000450244.1	-	4	798	c.600C>T	c.(598-600)tcC>tcT	p.S200S	SCN11A_ENST00000456224.3_Silent_p.S200S|SCN11A_ENST00000302328.3_Silent_p.S200S|SCN11A_ENST00000444237.2_Silent_p.S200S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	200					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAATGACAATGGAGTCCAGCC	0.398000													27	121					0	0	0.006320	0	0
PIGR	5284	broad.mit.edu	37	1	207112646	207112646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:207112646G>A	ENST00000356495.4	-	3	389	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	69	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCTCCGAGGAGATGAGGGT	0.587000													8	40					0	0	0.000673	0	0
GCOM1	145781	broad.mit.edu	37	15	57896505	57896505	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:57896505G>A	ENST00000574161.1	+	2	233	c.114G>A	c.(112-114)gaG>gaA	p.E38E	GCOM1_ENST00000380561.2_Silent_p.E38E|GCOM1_ENST00000396180.1_Silent_p.E38E|GCOM1_ENST00000587652.1_Silent_p.E38E|MYZAP_ENST00000267853.5_Silent_p.E38E|GCOM1_ENST00000380569.2_Silent_p.E38E|GCOM1_ENST00000380568.3_Silent_p.E38E|GCOM1_ENST00000572390.1_Silent_p.E38E|GCOM1_ENST00000380560.2_Silent_p.E38E|MYZAP_ENST00000380565.4_Silent_p.E38E|POLR2M_ENST00000380563.2_5'UTR	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		38					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TACCTCCTGAGAGTCCAGTTC	0.493000													128	152					0	0	0.003610	0	0
KRT74	121391	broad.mit.edu	37	12	52967412	52967412	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52967412G>A	ENST00000549343.1	-	1	188	c.150C>T	c.(148-150)ctC>ctT	p.L50L	KRT74_ENST00000305620.2_Silent_p.L50L			Q7RTS7	K2C74_HUMAN	keratin 74	50	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAAGGCTATAGAGGCTCCGAC	0.612000													12	62					0	0	0.000978	0	0
SAGE1	55511	broad.mit.edu	37	X	134990381	134990381	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:134990381G>A	ENST00000535938.1	+	11	1460	c.1293G>A	c.(1291-1293)agG>agA	p.R431R	SAGE1_ENST00000370709.3_Silent_p.R431R|SAGE1_ENST00000324447.3_Silent_p.R431R|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	431										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGAGTACCAGGGATCAGTGTA	0.398000													38	6					0	0	0.003214	0	0
ZP4	57829	broad.mit.edu	37	1	238049117	238049117	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:238049117G>A	ENST00000366570.4	-	7	1067	c.909C>T	c.(907-909)ctC>ctT	p.L303L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	303	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTGGTGGGAGAGTGAAAA	0.502000													15	64					0	0	0.004007	0	0
TRIM60	166655	broad.mit.edu	37	4	165961360	165961360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:165961360G>A	ENST00000512596.1	+	3	352	c.136G>A	c.(136-138)Gat>Aat	p.D46N	TRIM60_ENST00000341062.5_Missense_Mutation_p.D46N|TRIM60_ENST00000508504.1_Missense_Mutation_p.D46N	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	46						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATCCTGGAAGGATCTAGATGA	0.493000													30	81					0	0	0.001786	0	0
OTOL1	131149	broad.mit.edu	37	3	161214732	161214732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:161214732C>T	ENST00000327928.4	+	1	137	c.137C>T	c.(136-138)cCa>cTa	p.P46L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	46						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCTAAAGCCATCCAGTGGC	0.443000													30	20					0	0	0.006320	0	0
TPTE2	93492	broad.mit.edu	37	13	20024470	20024470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:20024470C>T	ENST00000400230.2	-	12	861	c.817G>A	c.(817-819)Gat>Aat	p.D273N	TPTE2_ENST00000255310.6_Missense_Mutation_p.D196N|TPTE2_ENST00000382978.1_Missense_Mutation_p.D233N|TPTE2_ENST00000400103.2_Missense_Mutation_p.D162N|TPTE2_ENST00000390680.2_Missense_Mutation_p.D196N|TPTE2_ENST00000382977.4_Missense_Mutation_p.D273N|TPTE2_ENST00000382975.4_Missense_Mutation_p.D233N|TPTE2_ENST00000457266.2_Missense_Mutation_p.D162N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	273	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGCTTAGGATCATAAGCTCTT	0.299000													34	61					0	0	0.005524	0	0
RASGRP1	10125	broad.mit.edu	37	15	38782889	38782889	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38782889C>T	ENST00000310803.5	-	17	2437	c.2259_splice	c.e17-1	p.E754_splice	RASGRP1_ENST00000539159.1_Splice_Site_p.E706_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.E805_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.E719_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.G590_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	754	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTATTTATTTCCTAAAGGGAA	0.343000													10	56					0	0	0.000673	0	0
FGFBP3	143282	broad.mit.edu	37	10	93668634	93668634	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:93668634C>T	ENST00000311575.5	-	2	256	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	31					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				TGCTAGCCGCCCCTTTCTCCC	0.716000													4	9					0	0	0.001168	0	0
SENP2	59343	broad.mit.edu	37	3	185337194	185337194	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:185337194T>C	ENST00000296257.5	+	13	1590	c.1350T>C	c.(1348-1350)ggT>ggC	p.G450G	SENP2_ENST00000427465.2_Silent_p.G274G|SENP2_ENST00000545472.1_Silent_p.G440G	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	450	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGTCTGGGGGTTACCAAGCAG	0.393000													278	249					0	0	0.003610	0	0
PHF20	51230	broad.mit.edu	37	20	34446251	34446251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:34446251G>A	ENST00000374012.3	+	5	497	c.368G>A	c.(367-369)gGa>gAa	p.G123E	PHF20_ENST00000481202.1_Intron|PHF20_ENST00000439301.1_Missense_Mutation_p.G123E			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TTTTATGATGGAGTAGTTCAG	0.303000													39	75					0	0	0.002222	0	0
PRDM1	639	broad.mit.edu	37	6	106553680	106553680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:106553680C>T	ENST00000369096.4	+	5	1879	c.1645C>T	c.(1645-1647)Ctc>Ttc	p.L549F	PRDM1_ENST00000369091.2_Missense_Mutation_p.L513F|PRDM1_ENST00000369089.3_Missense_Mutation_p.L415F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	549					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGCCATGAATCTCATTAAAAA	0.552000			"""D, N, Mis, F, S"""		DLBCL								21	4					0	0	0.001882	0	0
DGKK	139189	broad.mit.edu	37	X	50130633	50130633	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50130633C>T	ENST00000376025.2	-	0	2096							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAAAATCTTCCACAGCTGAAC	0.408000													26	5					0	0	0.007291	0	0
FOXN1	8456	broad.mit.edu	37	17	26856124	26856124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:26856124G>A	ENST00000226247.2	+	4	741	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	FOXN1_ENST00000579795.1_Missense_Mutation_p.G238S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	238					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCGCCAGGTGGTGGCAGCTA	0.577000													10	56					0	0	0.000673	0	0
TP53BP1	7158	broad.mit.edu	37	15	43784542	43784542	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43784542G>A	ENST00000263801.3	-	2	369	c.117C>T	c.(115-117)caC>caT	p.H39H	TP53BP1_ENST00000382039.3_Silent_p.H44H|TP53BP1_ENST00000382044.4_Silent_p.H44H|TP53BP1_ENST00000450115.2_Silent_p.H44H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	39					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCATACTGAAGTGAGAACCAG	0.418000								Other conserved DNA damage response genes					38	94					0	0	0.006230	0	0
CIDECP	152302	broad.mit.edu	37	3	10059673	10059673	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:10059673G>A	ENST00000432401.1	-	0	505																											CTGTGGCATCGAGGAGCTGCT	0.607000													7	32					0	0	0.001984	0	0
TNIK	23043	broad.mit.edu	37	3	170879094	170879094	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:170879094C>T	ENST00000436636.2	-	11	1325	c.981G>A	c.(979-981)gaG>gaA	p.E327E	TNIK_ENST00000460047.1_Silent_p.E327E|TNIK_ENST00000488470.1_Silent_p.E327E|TNIK_ENST00000369326.5_Silent_p.E327E|TNIK_ENST00000357327.5_Silent_p.E327E|TNIK_ENST00000341852.6_Silent_p.E327E|TNIK_ENST00000284483.8_Silent_p.E327E|TNIK_ENST00000538048.1_Silent_p.E327E|TNIK_ENST00000475336.1_Silent_p.E327E|TNIK_ENST00000470834.1_Silent_p.E327E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	327	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCTTCTTCCTCACTTCCAC	0.448000													17	35					0	0	0.006122	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324070	25324070	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:25324070C>T	ENST00000549804.2	+	0	1305																											TTGGGAGATCCCTGGAGATGG	0.512000													3	4					0	0	0.004672	0	0
MSMB	4477	broad.mit.edu	37	10	51555799	51555799	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:51555799C>T	ENST00000358559.2	+	2	159	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MSMB_ENST00000298239.6_Silent_p.F24F|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	24						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						CATGCTATTTCATACCTAATG	0.438000													10	30					0	0	0.000978	0	0
OGFR	11054	broad.mit.edu	37	20	61445075	61445075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61445075G>A	ENST00000370468.3	+	8	1386	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E	OGFR_ENST00000290291.6_3'UTR|OGFR_ENST00000370461.1_3'UTR			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	0					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGCTGCTGCGGGCTCCCCTCA	0.657000													17	18					0	0	0.001216	0	0
LYST	1130	broad.mit.edu	37	1	235866166	235866166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:235866166G>A	ENST00000389794.3	-	45	10429	c.10255C>T	c.(10255-10257)Cat>Tat	p.H3419Y	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H3419Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3419	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTCACATGGGCCATGTGG	0.522000													66	221					0	0	0.003610	0	0
GINS2	51659	broad.mit.edu	37	16	85721087	85721087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:85721087G>A	ENST00000253462.3	-	2	284	c.184C>T	c.(184-186)Cct>Tct	p.P62S		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	62					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CACTCTGGAGGGAGCAGGCGA	0.597000													17	63					0	0	0.001523	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162268	33162268	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:33162268C>T	ENST00000510327.1	-	0	346																											GTTTCTCTTTCCAGCCAGCGC	0.463000													15	13					0	0	0.003163	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894484	78894484	+	Missense_Mutation	SNP	G	G	T	rs72648887		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:78894484G>T	ENST00000326828.5	-	5	884	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167Q	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTAATCAAACGGGAAGTAGGT	0.488000													6	185					0.00307968	0.00492749	0.003080	1	0
TRPM2	7226	broad.mit.edu	37	21	45798897	45798897	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45798897C>T	ENST00000397928.1	+	8	1477	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	TRPM2_ENST00000397932.2_Silent_p.T344T|TRPM2_ENST00000300482.5_Silent_p.T344T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.T344T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	344						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACAACGCCACCACCAACGGCA	0.632000													25	39					0	0	0.005443	0	0
POLR2A	5430	broad.mit.edu	37	17	7405248	7405248	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7405248C>T	ENST00000322644.6	+	15	2778	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	793					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGCAGAACGTCGAGGGCAAGC	0.512000													29	25					0	0	0.004289	0	0
COL5A3	50509	broad.mit.edu	37	19	10092762	10092762	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:10092762G>T	ENST00000264828.3	-	32	2524	c.2439C>A	c.(2437-2439)ccC>ccA	p.P813P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	813	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTATGGGTCCCAGGG	0.542000													13	38					9.31168e-06	1.50177e-05	0.001855	1	0
KNOP1	400506	broad.mit.edu	37	16	19718265	19718265	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19718265C>T	ENST00000219837.7	-	5	1422	c.1344G>A	c.(1342-1344)agG>agA	p.R448R	KNOP1_ENST00000568230.1_Silent_p.R127R|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		TGGAAGCGTTCCTGTCAATGT	0.507000													53	173					0	0	0.003610	0	0
OLFM2	93145	broad.mit.edu	37	19	9968153	9968153	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9968153C>T	ENST00000264833.4	-	4	551	c.366G>A	c.(364-366)ctG>ctA	p.L122L	OLFM2_ENST00000590841.1_Silent_p.L44L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	122						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCTGTCCTTCAGCTCCTGTG	0.557000													9	24					0	0	0.006214	0	0
OR4D2	124538	broad.mit.edu	37	17	56247806	56247806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:56247806C>T	ENST00000545221.1	+	1	790	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCCTTCACTCCATTCCCTAT	0.547000													45	86					0	0	0.003610	0	0
OR13C9	286362	broad.mit.edu	37	9	107380476	107380476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:107380476C>T	ENST00000259362.1	-	1	9	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GTTTGGTTTTCCCATTCCATT	0.308000													14	15					0	0	0.004007	0	0
UTS2R	2837	broad.mit.edu	37	17	80332317	80332317	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:80332317G>A	ENST00000313135.2	+	1	165	c.117G>A	c.(115-117)ccG>ccA	p.P39P		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	39						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGGCCAGCCCGACCGAGCCCA	0.716000													8	8					0	0	0.000673	0	0
SLC38A4	55089	broad.mit.edu	37	12	47163181	47163181	+	Missense_Mutation	SNP	G	G	A	rs142179678		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:47163181G>A	ENST00000447411.1	-	14	1536	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P444S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	444					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGTCGTTTGGGAAATAACAGT	0.348000													20	72					0	0	0.001882	0	0
RABEPK	10244	broad.mit.edu	37	9	127975692	127975692	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:127975692C>T	ENST00000373544.1	+	5	421	c.255C>T	c.(253-255)ccC>ccT	p.P85P	RABEPK_ENST00000373538.3_Silent_p.P85P|RABEPK_ENST00000394125.4_Silent_p.P85P|RABEPK_ENST00000394124.4_Silent_p.P85P|RABEPK_ENST00000259460.8_Intron			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	85					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GCCTCTTGCCCCGGTATGAAC	0.478000													25	71					0	0	0.003954	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778497	5778497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5778497C>T	ENST00000381624.3	+	22	2268	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	736						integral to membrane											ATCCTGGGGTCCGTTTGGCTG	0.572000													20	41					0	0	0.001523	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202140	22202140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:22202140G>A	ENST00000344041.6	-	13	1156	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	RAPGEF5_ENST00000401957.2_Nonsense_Mutation_p.Q132*	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	132					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTTTGCCTTGATACTTCTTA	0.338000													14	70					0	0	0.001855	0	0
CSF1	1435	broad.mit.edu	37	1	110466433	110466433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:110466433C>T	ENST00000329608.6	+	6	1581	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P397L|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	397					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCAGAGACCCCCCGGAGCCA	0.662000													14	25					0	0	0.004007	0	0
EVX2	344191	broad.mit.edu	37	2	176948122	176948122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:176948122G>A	ENST00000308618.4	-	1	519	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGGCCCCCGGGGGAGCGAAG	0.687000													7	9					0	0	0.001984	0	0
TACR1	6869	broad.mit.edu	37	2	75425727	75425727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:75425727G>A	ENST00000305249.4	-	1	1099	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TACR1_ENST00000409848.3_Missense_Mutation_p.P112S	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	112					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCGGCGATGGGAAAGAAGTTG	0.498000													20	61					0	0	0.001882	0	0
BATF3	55509	broad.mit.edu	37	1	212870361	212870361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:212870361C>T	ENST00000243440.1	-	2	359	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	46					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		AGCAGCAACTCGGTTTTTTTC	0.557000													41	19					0	0	0.002522	0	0
GALNT6	11226	broad.mit.edu	37	12	51753045	51753045	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:51753045G>A	ENST00000543196.2	-	7	1444	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	GALNT6_ENST00000356317.3_Silent_p.S413S			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	413					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGTGTGGGGGCTCTTGGTCC	0.557000													44	31					0	0	0.003610	0	0
ACER1	125981	broad.mit.edu	37	19	6312490	6312490	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:6312490G>A	ENST00000301452.4	-	2	191	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	38						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GCCCGAAGATGAAGAAGGGGA	0.557000													23	79					0	0	0.002780	0	0
MYH15	22989	broad.mit.edu	37	3	108107886	108107886	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:108107886G>A	ENST00000273353.3	-	39	5582	c.5526C>T	c.(5524-5526)atC>atT	p.I1842I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1842						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CACTGCGACGGATTTCACCCT	0.537000													29	77					0	0	0.002096	0	0
HYAL4	23553	broad.mit.edu	37	7	123509273	123509273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:123509273C>T	ENST00000223026.4	+	3	1584	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	HYAL4_ENST00000476325.1_Missense_Mutation_p.L316F	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	316					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTATTTTTCCTTTCTAAGGT	0.383000													11	23					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179400315	179400315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179400315C>T	ENST00000589042.1	-	358	101251	c.101027G>A	c.(101026-101028)gGa>gAa	p.G33676E	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G24611E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24803E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G32035E|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G24736E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31108E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32035	Ig-like 148.						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)			CTGATCAATTCCAAATCTGTT	0.423000													17	37					0	0	0.007413	0	0
CHRDL1	91851	broad.mit.edu	37	X	109964648	109964648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:109964648G>A	ENST00000218054.4	-	5	605	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	CHRDL1_ENST00000372045.1_Missense_Mutation_p.R131W|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R137W|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R137W|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R138W	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	131	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGTTGCCGATTCTGAAAG	0.483000													75	91					0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19455470	19455470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19455470C>T	ENST00000396229.2	+	4	1605	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	TMC5_ENST00000381414.4_Missense_Mutation_p.L286F|TMC5_ENST00000541464.1_Missense_Mutation_p.L286F|TMC5_ENST00000542583.2_Missense_Mutation_p.L286F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	286						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGTGGGCAGTCTTTGGGGAGA	0.498000													46	47					0	0	0.003610	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616170	140616170	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140616170C>T	ENST00000526308.1	+	0	2233					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTCCCAGGCCCAGGCCGACTC	0.692000													18	102					0	0	0.007413	0	0
MKI67	4288	broad.mit.edu	37	10	129902173	129902173	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:129902173T>C	ENST00000368654.3	-	13	8306	c.7931A>G	c.(7930-7932)aAa>aGa	p.K2644R	MKI67_ENST00000368653.3_Missense_Mutation_p.K2284R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2644	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCAATACTTTGATGCCCTC	0.502000													29	49					0	0	0.007291	0	0
TRHDE	29953	broad.mit.edu	37	12	73012702	73012702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:73012702G>A	ENST00000261180.4	+	13	2314	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	740					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TATTCCTCTGGAGATTATCAG	0.388000													89	60					0	0	0.003610	0	0
GKAP1	80318	broad.mit.edu	37	9	86354623	86354623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:86354623G>A	ENST00000376371.2	-	13	1490	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	GKAP1_ENST00000376365.3_Nonsense_Mutation_p.Q313*|GKAP1_ENST00000376362.1_5'UTR	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	364					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CACCTACACTGGTCGGATTCA	0.333000													12	33					0	0	0.000978	0	0
RORA	6095	broad.mit.edu	37	15	60907165	60907165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:60907165C>T	ENST00000309157.4	-	2	268	c.199G>A	c.(199-201)Gat>Aat	p.D67N	RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000558235.1_RNA	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	70	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGGCTCCATCCCAGTTTATG	0.468000													14	50					0	0	0.003163	0	0
SCN8A	6334	broad.mit.edu	37	12	52200906	52200906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52200906C>T	ENST00000354534.5	+	27	5814	c.5636C>T	c.(5635-5637)tCc>tTc	p.S1879F	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1838F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1879					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCAATCCTTCCAAAGTGTCT	0.572000													42	103					0	0	0.006999	0	0
STMN2	11075	broad.mit.edu	37	8	80567214	80567214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:80567214G>A	ENST00000220876.7	+	4	779	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	STMN2_ENST00000518111.1_Missense_Mutation_p.E133K|STMN2_ENST00000518491.1_Missense_Mutation_p.E122K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	133					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GATGGCGGAGGAAAAGCTGAT	0.468000													11	11					0	0	0.001368	0	0
GRM3	2913	broad.mit.edu	37	7	86394864	86394864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:86394864C>T	ENST00000361669.2	+	2	1502	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Nonsense_Mutation_p.Q133*|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.Q135*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	135					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTATGCCATTCAAGAAAACAT	0.433000													26	74					0	0	0.005443	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632000													43	76					0	0	0.003610	0	0
COL20A1	57642	broad.mit.edu	37	20	61938856	61938856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:61938856C>T	ENST00000422202.1	+	5	600	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	COL20A1_ENST00000435874.1_Missense_Mutation_p.R178C|COL20A1_ENST00000326996.6_Missense_Mutation_p.R171C|COL20A1_ENST00000358894.6_Missense_Mutation_p.R171C			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	171					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCCAGTTCCGCTGCCTGCC	0.682000													18	17					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13793771	13793771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13793771C>T	ENST00000265104.4	-	49	8181	c.8077G>A	c.(8077-8079)Gag>Aag	p.E2693K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2693	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGTGAACTCCCCAGGCTTC	0.443000									Kartagener syndrome				88	43					0	0	0.003610	0	0
NAGLU	4669	broad.mit.edu	37	17	40693186	40693186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40693186C>T	ENST00000225927.2	+	5	1084	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	328						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TCCTACCTTGCCGCAGCCACC	0.572000													34	52					0	0	0.003755	0	0
DNAH5	1767	broad.mit.edu	37	5	13823447	13823447	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13823447C>T	ENST00000265104.4	-	40	6716	c.6612G>A	c.(6610-6612)ttG>ttA	p.L2204L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2204					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTTCAATCAAACTCAAAA	0.368000									Kartagener syndrome				80	31					0	0	0.003610	0	0
TEX10	54881	broad.mit.edu	37	9	103088589	103088589	+	Silent	SNP	G	G	A	rs150703426		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:103088589G>A	ENST00000374902.4	-	9	2150	c.1974C>T	c.(1972-1974)caC>caT	p.H658H	TEX10_ENST00000535814.1_Silent_p.H661H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	658						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCTACCTCATGTGCAGTATCC	0.428000													11	17					0	0	0.001368	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063187	17063187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:17063187C>T	ENST00000262096.8	+	7	1195	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	167						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GTTGGATTTTCAAATTATAAG	0.333000													58	84					0	0	0.003610	0	0
ARAP3	64411	broad.mit.edu	37	5	141051852	141051852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141051852C>T	ENST00000239440.4	-	10	1467	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R	ARAP3_ENST00000513878.1_Missense_Mutation_p.G130R|ARAP3_ENST00000508305.1_Missense_Mutation_p.G390R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	468	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAGCACCCCCAGACTCGGCT	0.627000													12	63					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668309	176668309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:176668309G>A	ENST00000367662.3	+	8	3984	c.2820G>A	c.(2818-2820)atG>atA	p.M940I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	940					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTACCACATGAACATGACGG	0.592000													18	73					0	0	0.001216	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382018	41382018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:41382018G>A	ENST00000377801.3	-	2	796	c.722C>T	c.(721-723)tCg>tTg	p.S241L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S241L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	241					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S241L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TATAAAAAACGATCCCTTCTT	0.507000													54	37					0	0	0.003610	0	0
LRCH4	4034	broad.mit.edu	37	7	100179430	100179430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100179430G>A	ENST00000310300.6	-	4	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	190					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTCCTCCGGACATTGAGG	0.582000													32	69					0	0	0.002836	0	0
TBL3	10607	broad.mit.edu	37	16	2025811	2025811	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:2025811C>T	ENST00000568546.1	+	11	1118	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	330					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCCCGCAGTTCGCTGGCTACA	0.612000													34	76					0	0	0.006999	0	0
SPG11	80208	broad.mit.edu	37	15	44876092	44876092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:44876092G>A	ENST00000261866.7	-	30	5802	c.5786C>T	c.(5785-5787)cCa>cTa	p.P1929L	SPG11_ENST00000558319.1_Missense_Mutation_p.P1929L|SPG11_ENST00000535302.2_Missense_Mutation_p.P1929L|SPG11_ENST00000427534.2_Missense_Mutation_p.P1929L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1929					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATGGATCTCTGGGTGCAGATC	0.493000													20	38					0	0	0.001523	0	0
UNC13B	10497	broad.mit.edu	37	9	35398937	35398937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:35398937C>T	ENST00000378495.3	+	32	3955	c.3733C>T	c.(3733-3735)Cgg>Tgg	p.R1245W	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1257W|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1245W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1245					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCAGGTTCGGGGCACAGG	0.577000													7	24					0	0	0.001984	0	0
FAM27L	284123	broad.mit.edu	37	17	21825560	21825560	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:21825560C>T	ENST00000426869.3	+	0	264					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tcaggcctgcccggagggtgt	0.637000													11	41					0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443000													19	325					0	0	0.001882	0	0
PCDH20	64881	broad.mit.edu	37	13	61986204	61986204	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:61986204G>A	ENST00000409186.1	-	5	4133	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	PCDH20_ENST00000409204.4_Silent_p.L676L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	649	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCACCACAGAGAGGGCGACCC	0.448000													26	20					0	0	0.003330	0	0
KRT71	112802	broad.mit.edu	37	12	52939367	52939367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52939367G>A	ENST00000267119.5	-	8	1411	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	448	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACAGGGGAGGGAAATTCTCCT	0.418000													54	25					0	0	0.003610	0	0
RAB11B	9230	broad.mit.edu	37	19	8464857	8464857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:8464857C>T	ENST00000328024.6	+	2	369	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.R51C	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTTCGCCACCCGCAGCATCCA	0.662000													12	29					0	0	0.001855	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601919	58601919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58601919G>A	ENST00000287275.1	-	6	1258	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.P290S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	290						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TATTTCTTGGGGGTGCATTTC	0.363000													10	21					0	0	0.000978	0	0
ZNF479	90827	broad.mit.edu	37	7	57193792	57193792	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:57193792G>A	ENST00000331162.4	-	4	465	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCAGACAGGTGATCAAGTCTG	0.363000													115	61					0	0	0.003610	0	0
CMTR2	55783	broad.mit.edu	37	16	71319424	71319424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:71319424G>A	ENST00000338099.5	-	3	736	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Q134*			Q8IYT2	FTSJ1_HUMAN		134						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCCATTCTGAAAAGCTTCC	0.393000													17	35					0	0	0.004007	0	0
MBNL1	4154	broad.mit.edu	37	3	152173353	152173353	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:152173353C>A	ENST00000324210.5	+	7	1903	c.984C>A	c.(982-984)ccC>ccA	p.P328P	MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Silent_p.P328P|MBNL1_ENST00000545754.1_Silent_p.P260P|MBNL1_ENST00000493459.1_Silent_p.P289P|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Silent_p.P328P|MBNL1_ENST00000485509.1_Intron	NM_021038.3	NP_066368.2	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	338					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCATGACACCCGCTACAAGTG	0.408000													6	119					0.00307968	0.00492749	0.003080	1	0
RBAK	57786	broad.mit.edu	37	7	5104889	5104889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:5104889G>A	ENST00000396912.1	+	5	2321	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.G601E	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	601	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TACGAATGTGGAAAATTCTTC	0.393000													35	23					0	0	0.004289	0	0
COL17A1	1308	broad.mit.edu	37	10	105815715	105815715	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:105815715C>T	ENST00000353479.5	-	18	1802	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	COL17A1_ENST00000369733.3_Silent_p.R504R|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	504	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCTCCTGATCCTCTCCAGCT	0.597000													25	81					0	0	0.006320	0	0
FAM98B	283742	broad.mit.edu	37	15	38757496	38757496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:38757496C>T	ENST00000397609.2	+	3	279	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	FAM98B_ENST00000491535.1_Missense_Mutation_p.L82F	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	82						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAGCTTCCAGCTTGAGATAAG	0.308000													12	23					0	0	0.001855	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740983	96740983	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96740983G>A	ENST00000260682.6	+	7	1017	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCAGAAACCGGAGCCCCTGCA	0.493000													32	81					0	0	0.003755	0	0
OR6C76	390326	broad.mit.edu	37	12	55820236	55820236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:55820236G>A	ENST00000328314.3	+	1	199	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCTCCTTGGAAATTTCATT	0.398000													23	340					0	0	0.001882	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517128	158517128	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158517128G>A	ENST00000302617.3	-	1	767	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCATGGAATAGAAGAGAATTA	0.502000													67	29					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124380826	124380826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124380826G>A	ENST00000338354.3	+	41	5257	c.5151G>A	c.(5149-5151)tgG>tgA	p.W1717*	DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1717*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1089*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1707*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1707*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1089*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1717	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTACCTGTGGAGCTGCCCCC	0.622000													55	55					0	0	0.003610	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:52249761G>A	ENST00000595042.1	-	3	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_ENST00000304748.4_Missense_Mutation_p.R163C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	163					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000													20	49					0	0	0.002780	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777443	95777443	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:95777443C>T	ENST00000414645.2	+	9	1002	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	301						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ACATATTTTCCCTCTTTCTGG	0.294000													209	181					0	0	0.003610	0	0
OR2T34	127068	broad.mit.edu	37	1	248737510	248737510	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248737510G>A	ENST00000328782.2	-	1	570	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			GAGTCTCACAGAAAAAACTCA	0.512000													27	89					0	0	0.003271	0	0
RNF39	80352	broad.mit.edu	37	6	30043030	30043030	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30043030G>A	ENST00000244360.6	-	1	634	c.537C>T	c.(535-537)ccC>ccT	p.P179P	RNF39_ENST00000376751.3_Silent_p.P179P	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	179						cytoplasm	zinc ion binding										AGCCCATGGTGGGGATGCGCC	0.716000													10	20					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9048748	9048748	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9048748G>A	ENST00000397910.4	-	5	33086	c.32883C>T	c.(32881-32883)acC>acT	p.T10961T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10963	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAAGGTGTGGTCTCTGGTT	0.498000													23	53					0	0	0.003954	0	0
ETFA	2108	broad.mit.edu	37	15	76578774	76578774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:76578774G>A	ENST00000557943.1	-	6	580	c.500C>T	c.(499-501)tCt>tTt	p.S167F	ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Missense_Mutation_p.S63F|ETFA_ENST00000560816.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.S118F	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	167					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TCCACGGACAGAAAACACTTT	0.383000													13	39					0	0	0.003163	0	0
NUP214	8021	broad.mit.edu	37	9	134073810	134073810	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:134073810C>T	ENST00000359428.5	+	29	5073	c.4929C>T	c.(4927-4929)tcC>tcT	p.S1643S	NUP214_ENST00000411637.2_Silent_p.S1633S|NUP214_ENST00000451030.1_Silent_p.S1644S|NUP214_ENST00000483497.2_Silent_p.S469S			P35658	NU214_HUMAN	nucleoporin 214kDa	1643	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGGCTCATCCGTCTTTGCTC	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								25	84					0	0	0.005443	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440255	104440255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:104440255C>T	ENST00000372582.1	+	3	937	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R61C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	61	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R61C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTTATATTCGTACCAACTA	0.473000													30	3					0	0	0.001786	0	0
PELO	53918	broad.mit.edu	37	5	52096729	52096729	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:52096729C>T	ENST00000274311.2	+	2	1486	c.501C>T	c.(499-501)atC>atT	p.I167I	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	167					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGTGAACATCCCTAGGAAAA	0.567000													61	41					0	0	0.003610	0	0
LIFR	3977	broad.mit.edu	37	5	38523666	38523666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:38523666G>A	ENST00000263409.4	-	5	578	c.416C>T	c.(415-417)cCa>cTa	p.P139L	LIFR_ENST00000453190.2_Missense_Mutation_p.P139L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	139					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGATCTCTGGAGTATCTGG	0.348000			T	PLAG1	salivary adenoma								10	79					0	0	0.000978	0	0
ADK	132	broad.mit.edu	37	10	75960564	75960564	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:75960564C>T	ENST00000372734.3	+	2	244	c.57C>T	c.(55-57)atC>atT	p.I19I	ADK_ENST00000541550.1_Silent_p.I19I|ADK_ENST00000539909.1_Silent_p.I36I|ADK_ENST00000286621.2_Silent_p.I36I	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	36					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TGCTTGACATCTCTGCTGTAG	0.303000													15	15					0	0	0.007413	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597196	18597196	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:18597196C>T	ENST00000546162.2	+	0	936					NR_003569.1																						AGAGAAAACTCCTCAGAAGAA	0.557000													33	21					0	0	0.001951	0	0
PARD3B	117583	broad.mit.edu	37	2	206166390	206166390	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:206166390G>A	ENST00000406610.2	+	18	2802	c.2595G>A	c.(2593-2595)agG>agA	p.R865R	PARD3B_ENST00000351153.1_Silent_p.R796R|PARD3B_ENST00000462231.1_Silent_p.R865R|PARD3B_ENST00000358768.2_Silent_p.R803R|PARD3B_ENST00000349953.3_Silent_p.R865R	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	865	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		atccagaaaggaaaataaaga	0.418000													13	10					0	0	0.001368	0	0
C7	730	broad.mit.edu	37	5	40962209	40962209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:40962209C>T	ENST00000313164.9	+	13	2043	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	562					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACATTGCTTTCCTTTGTCTTT	0.333000													4	4					0	0	0.000248	0	0
OR5B3	441608	broad.mit.edu	37	11	58170843	58170843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58170843C>T	ENST00000309403.2	-	1	39	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGTTAGTCCTAGAAGAATG	0.388000													33	45					0	0	0.005524	0	0
CPM	1368	broad.mit.edu	37	12	69264142	69264142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:69264142G>A	ENST00000551568.1	-	5	529	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	CPM_ENST00000338356.3_Missense_Mutation_p.P157S|CPM_ENST00000546373.1_Missense_Mutation_p.P157S	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	157					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAAGCATCGGGGAAATTTCGA	0.398000													25	190					0	0	0.006320	0	0
TCTA	6988	broad.mit.edu	37	3	49449976	49449976	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:49449976C>T	ENST00000273590.3	+	1	338	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	39						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGACCCTCTTCAAGCTGCTGC	0.647000													57	68					0	0	0.003610	0	0
NOTUM	147111	broad.mit.edu	37	17	79916234	79916234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:79916234C>T	ENST00000409678.3	-	5	952	c.569G>A	c.(568-570)gGg>gAg	p.G190E		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	190						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGATGAAGCCCCGCTCCAAAC	0.642000													7	47					0	0	0.006214	0	0
OR11L1	391189	broad.mit.edu	37	1	248005013	248005013	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:248005013G>A	ENST00000355784.2	-	1	241	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCTGGAGGAACATGTACA	0.547000													8	23					0	0	0.003080	0	0
MRVI1	10335	broad.mit.edu	37	11	10655561	10655561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:10655561C>T	ENST00000547195.1	-	2	510	c.10G>A	c.(10-12)Gat>Aat	p.D4N	MRVI1_ENST00000552103.1_Missense_Mutation_p.D4N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D86N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D95N|MRVI1_ENST00000558540.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.D4N|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.D86N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D95N|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.D86N|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_Intron	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	86					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAAGTGGCATCCCCAGTCAGG	0.507000													11	4					0	0	0.000978	0	0
FAM126B	285172	broad.mit.edu	37	2	201862171	201862171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:201862171G>A	ENST00000418596.2	-	8	810	c.623C>T	c.(622-624)tCc>tTc	p.S208F	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	208						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTCTCACCTGGAACCCATCCG	0.353000													22	32					0	0	0.003954	0	0
RBM14	10432	broad.mit.edu	37	11	66392846	66392846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:66392846C>T	ENST00000310137.4	+	2	1638	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	500	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCTATGGTGCCGCAGCAGCC	0.617000													8	62					0	0	0.004482	0	0
MYH4	4622	broad.mit.edu	37	17	10364338	10364338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10364338C>T	ENST00000255381.2	-	12	1152	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	348	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCACCTTTTCATCAGCAGTG	0.488000													25	65					0	0	0.006320	0	0
ITGAX	3687	broad.mit.edu	37	16	31382989	31382989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31382989G>A	ENST00000268296.4	+	17	2165	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	ITGAX_ENST00000562522.1_Missense_Mutation_p.D682N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	682					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTGGCCCTCGACCCTGGCCG	0.607000													15	45					0	0	0.001216	0	0
MFAP3	4238	broad.mit.edu	37	5	153433112	153433112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:153433112C>T	ENST00000436816.1	+	3	1147	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	MFAP3_ENST00000322602.5_Nonsense_Mutation_p.Q310*|MFAP3_ENST00000439768.2_Nonsense_Mutation_p.Q164*	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	310						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGAACAAGGCCAGGAAATAGC	0.448000													15	62					0	0	0.004007	0	0
AGAP3	116988	broad.mit.edu	37	7	150841005	150841005	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:150841005T>C	ENST00000397238.2	+	18	2711	c.2711T>C	c.(2710-2712)cTg>cCg	p.L904P	AGAP3_ENST00000463381.1_Missense_Mutation_p.L573P	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	868					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTGCTGAGCTGCACCGTAGT	0.622000													15	92					0	0	0.003163	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819474	31819474	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:31819474C>T	ENST00000382902.1	-	5	782	c.690G>A	c.(688-690)cgG>cgA	p.R230R	OTUD7A_ENST00000307050.4_Silent_p.R230R			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	230	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGAGAGCTTTCCGTAACACCA	0.567000													80	80					0	0	0.003610	0	0
NAB2	4665	broad.mit.edu	37	12	57485152	57485152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57485152C>T	ENST00000300131.3	+	2	706	c.328C>T	c.(328-330)Cca>Tca	p.P110S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.P110S|NAB2_ENST00000342556.6_Missense_Mutation_p.P110S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	110	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCCACCAATCCAGGGCTCTT	0.592000													31	354					0	0	0.002445	0	0
AGAP11	119385	broad.mit.edu	37	10	88769434	88769434	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:88769434C>T	ENST00000444431.1	+	0	4034				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACATGGCTCCCGTGAGGAGG	0.672000													66	52					0	0	0.003610	0	0
NR2C1	7181	broad.mit.edu	37	12	95451609	95451609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:95451609G>A	ENST00000333003.5	-	6	920	c.590C>T	c.(589-591)tCt>tTt	p.S197F	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.S197F|NR2C1_ENST00000330677.7_Missense_Mutation_p.S197F	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	197					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACAGTTGGAAGATTTTTCTCG	0.348000													25	43					0	0	0.004656	0	0
CCNYL2	414194	broad.mit.edu	37	10	42947111	42947111	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:42947111G>A	ENST00000483242.3	-	0	643					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGGTCAGAAGGGTTGGGCTCC	0.358000													3	11					0	0	0.004672	0	0
MGAM	8972	broad.mit.edu	37	7	141800622	141800622	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:141800622T>C	ENST00000475668.2	+	68	7949	c.7895T>C	c.(7894-7896)tTc>tCc	p.F2632S	MGAM_ENST00000549489.2_Missense_Mutation_p.F1736S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1736					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCATGGGCTTCAAAATTGCC	0.478000													8	34					0	0	0.004482	0	0
DENND4B	9909	broad.mit.edu	37	1	153906740	153906740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:153906740G>A	ENST00000361217.4	-	19	3230	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	938										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCTGGCGCTGAAGAGGGCGA	0.612000													7	4					0	0	0.004482	0	0
ZNF208	7757	broad.mit.edu	37	19	22157589	22157589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:22157589G>A	ENST00000397126.4	-	4	395	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Nonsense_Mutation_p.Q83*	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAAAGATCTTGAGCAAAATGA	0.294000													9	28					0	0	0.006214	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582839	61582839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:61582839C>T	ENST00000238508.3	+	2	154	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTCTTTTCTTCCTGGAGCATC	0.458000													18	64					0	0	0.007413	0	0
EDNRA	1909	broad.mit.edu	37	4	148407109	148407109	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:148407109C>T	ENST00000324300.5	+	2	791	c.276C>T	c.(274-276)atC>atT	p.I92I	EDNRA_ENST00000339690.5_Silent_p.I92I|EDNRA_ENST00000358556.4_Silent_p.I92I|EDNRA_ENST00000506066.1_Silent_p.I92I|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	92					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTATTTTCATCGTGGGAATGG	0.443000													42	48					0	0	0.003610	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526564	71526564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:71526564C>T	ENST00000393330.2	-	10	1037	c.485G>A	c.(484-486)gGa>gAa	p.G162E	TSPAN8_ENST00000247829.3_Missense_Mutation_p.G162E|TSPAN8_ENST00000552128.1_Missense_Mutation_p.G79E|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G162E			P19075	TSN8_HUMAN	tetraspanin 8	162					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AAAATTATTTCCCCAATCAGC	0.368000													125	793					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183978	19183978	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:19183978C>T	ENST00000375371.3	-	2	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	110					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542000													20	31					0	0	0.004656	0	0
LINC00477	144360	broad.mit.edu	37	12	24736652	24736652	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24736652G>A	ENST00000483544.1	-	0	450					NR_029451.2																						TGCTCAGTGGGGAAGGAGGGT	0.567000													15	72					0	0	0.004990	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085767	42085767	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:42085767G>A	ENST00000407170.2	+	4	915	c.102G>A	c.(100-102)gtG>gtA	p.V34V	CEACAM21_ENST00000187608.9_Silent_p.V162V|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Silent_p.V162V			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	162						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AGGGCTCCGTGGTCCTGACCT	0.532000													13	31					0	0	0.002450	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158590148C>T	ENST00000368148.3	-	44	6409	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2074K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000													7	44					0	0	0.004482	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73848969G>A	ENST00000523207.1	+	3	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000													59	55					0	0	0.003610	0	0
TRMT10B	158234	broad.mit.edu	37	9	37777687	37777687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:37777687C>T	ENST00000297994.3	+	9	999	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TRMT10B_ENST00000377753.2_Missense_Mutation_p.R225W|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R252W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R217W|RP11-613M10.9_ENST00000540557.1_Intron	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		CTATATTCTTCGGAACTCAGT	0.483000													10	17					0	0	0.006214	0	0
MBOAT7	79143	broad.mit.edu	37	19	54691087	54691087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54691087G>A	ENST00000245615.1	-	4	769	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.P97S|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	97					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGGGCGTGGGAGTGGGCAGG	0.657000													4	11					0	0	0.000248	0	0
CLTCL1	8218	broad.mit.edu	37	22	19230400	19230400	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:19230400G>A	ENST00000263200.10	-	4	651	c.579C>T	c.(577-579)ccC>ccT	p.P193P	CLTCL1_ENST00000427926.1_Silent_p.P193P|CLTCL1_ENST00000353891.5_Silent_p.P193P	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	193	Globular terminal domain.			P -> H (in Ref. 1; AAC50494).	anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGCCTTCTATGGGTTGTGAAA	0.478000			T	?	ALCL								19	42					0	0	0.006122	0	0
KMT2D	8085	broad.mit.edu	37	12	49436535	49436535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49436535G>A	ENST00000301067.7	-	26	5770	c.5771C>T	c.(5770-5772)cCc>cTc	p.P1924L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGAAGAAAGGGCCTCTGCAG	0.547000													30	74					0	0	0.002445	0	0
SYN1	6853	broad.mit.edu	37	X	47466349	47466349	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47466349G>A	ENST00000295987.7	-	3	646	c.522C>T	c.(520-522)gtC>gtT	p.V174V	SYN1_ENST00000340666.4_Silent_p.V174V	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	174	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTCACCGCACGACCTTCACCC	0.507000													14	2					0	0	0.004007	0	0
EFNA5	1946	broad.mit.edu	37	5	106717056	106717056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:106717056G>A	ENST00000333274.6	-	5	868	c.587C>T	c.(586-588)gCc>gTc	p.A196V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.A169V	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	196					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGATGGCTCGGCTGACTCATG	0.488000													34	19					0	0	0.003755	0	0
HIRA	7290	broad.mit.edu	37	22	19348765	19348765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:19348765G>A	ENST00000263208.5	-	17	2336	c.2080C>T	c.(2080-2082)Ctc>Ttc	p.L694F	HIRA_ENST00000541063.1_Missense_Mutation_p.L650F|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.L650F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	694	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTTACCTGGAGGGTGAATGCT	0.547000													47	5					0	0	0.003610	0	0
MRPS27	23107	broad.mit.edu	37	5	71533937	71533937	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:71533937G>A	ENST00000261413.5	-	5	339	c.300C>T	c.(298-300)aaC>aaT	p.N100N	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Silent_p.N114N|MRPS27_ENST00000457646.4_Silent_p.N44N|MRPS27_ENST00000515404.1_Silent_p.N44N	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	100						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GGTACCAGCAGTTGGGGCTGT	0.403000													41	17					0	0	0.007835	0	0
ITGAE	3682	broad.mit.edu	37	17	3661105	3661105	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:3661105C>T	ENST00000263087.4	-	9	1013	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	305	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCACCATGACCTTGGATGCCT	0.532000													41	88					0	0	0.003214	0	0
PSD3	23362	broad.mit.edu	37	8	18413763	18413763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:18413763C>T	ENST00000440756.2	-	15	2992	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N	PSD3_ENST00000327040.8_Missense_Mutation_p.D962N|PSD3_ENST00000286485.8_Missense_Mutation_p.D428N|PSD3_ENST00000523619.1_Missense_Mutation_p.D897N|PSD3_ENST00000428502.2_Missense_Mutation_p.D291N			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	963					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATCGACGTCCTTGGCTTTG	0.473000													45	33					0	0	0.003610	0	0
CPA1	1357	broad.mit.edu	37	7	130023288	130023288	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:130023288C>T	ENST00000011292.3	+	5	690	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CPA1_ENST00000484324.1_Silent_p.S92S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	180	Substrate binding.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCATCCATTCCCGGGAGTGGG	0.617000													17	52					0	0	0.001882	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224001	43224001	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:43224001C>T	ENST00000255226.6	+	10	2043	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC14A2_ENST00000586448.1_Silent_p.F409F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	409						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCATCTTCCTGCTCCTGA	0.542000													33	94					0	0	0.003755	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784215	90784215	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:90784215C>T	ENST00000558017.1	+	4	495	c.75C>T	c.(73-75)acC>acT	p.T25T	GDPGP1_ENST00000329600.6_Silent_p.T25T	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	25					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCAGGCAAACCATTCCTGACT	0.483000													34	159					0	0	0.006230	0	0
ANKRD26	22852	broad.mit.edu	37	10	27306649	27306649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:27306649G>A	ENST00000376087.4	-	30	4453	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1446F|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L987F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1429						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCTCTTGAAGAATTTGGTTC	0.333000													12	23					0	0	0.001368	0	0
OR2A25	392138	broad.mit.edu	37	7	143771784	143771784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:143771784C>T	ENST00000408898.2	+	1	510	c.472C>T	c.(472-474)Cat>Tat	p.H158Y		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGCCCTTGTCCATCTAGTGTT	0.453000													35	209					0	0	0.003271	0	0
LRRN2	10446	broad.mit.edu	37	1	204587761	204587761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:204587761C>T	ENST00000367175.1	-	1	3572	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	LRRN2_ENST00000367177.3_Missense_Mutation_p.E454K|LRRN2_ENST00000367176.3_Missense_Mutation_p.E454K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	454	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity	p.E454K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGTAGATCTCGGGTTCGGGT	0.647000													35	17					0	0	0.002222	0	0
TRIM31	11074	broad.mit.edu	37	6	30075851	30075851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30075851C>T	ENST00000376734.3	-	6	987	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	TRIM31_ENST00000540829.1_Missense_Mutation_p.G288R|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	288						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTAGGCTCCCTGTGATGGAG	0.433000													35	18					0	0	0.004289	0	0
TOX2	84969	broad.mit.edu	37	20	42697297	42697297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:42697297C>T	ENST00000358131.5	+	8	1646	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	TOX2_ENST00000341197.3_Missense_Mutation_p.P498S|TOX2_ENST00000372999.1_Missense_Mutation_p.P456S|TOX2_ENST00000435864.2_Missense_Mutation_p.P376S|TOX2_ENST00000423191.1_Missense_Mutation_p.P456S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCCTGCTCCCCAGGGACAA	0.632000													20	18					0	0	0.001882	0	0
OR4F5	79501	broad.mit.edu	37	1	69517	69517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:69517G>A	ENST00000335137.3	+	1	427	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTCACATGGGGAATTGGCTT	0.473000													40	125					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	21970176	21970176	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:21970176C>T	ENST00000261200.4	-	31	3836	c.3837G>A	c.(3835-3837)gtG>gtA	p.V1279V	ABCC9_ENST00000261201.4_Silent_p.V1279V|ABCC9_ENST00000345162.2_Silent_p.V1243V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1279					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCACCTTCTTCACTGCACCCA	0.358000													34	89					0	0	0.007835	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215639	20215639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:20215639C>T	ENST00000331723.1	+	1	53	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGGCCTATCATCTTCTTGG	0.363000													22	265					0	0	0.003330	0	0
ALPPL2	251	broad.mit.edu	37	2	233274533	233274533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:233274533C>T	ENST00000295453.3	+	11	1602	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	517					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCGTTGCTTCCTCTGCTGGCA	0.746000													7	0					0	0	0.003080	0	0
F13B	2165	broad.mit.edu	37	1	197009744	197009744	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:197009744A>G	ENST00000367412.1	-	11	1903	c.1860T>C	c.(1858-1860)acT>acC	p.T620T	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	620	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAGCTGGATAAGTATCTCCTC	0.323000													50	24					0	0	0.003610	0	0
NAT14	57106	broad.mit.edu	37	19	55997951	55997951	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55997951C>T	ENST00000205194.4	+	3	552	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAT14_ENST00000592719.1_Intron|NAT14_ENST00000591590.1_3'UTR|NAT14_ENST00000587400.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	83	N-acetyltransferase.				positive regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	integral to membrane|nucleus	DNA binding|N-acetyltransferase activity			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		GCCTGCGGGCCCGATGGGGCT	0.756000													6	10					0	0	0.001984	0	0
MYO1E	4643	broad.mit.edu	37	15	59497637	59497637	+	Silent	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:59497637A>G	ENST00000288235.4	-	15	1977	c.1578T>C	c.(1576-1578)ctT>ctC	p.L526L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	526	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATCCATAAAAAGCACATCCC	0.378000													30	146					0	0	0.004289	0	0
SLC7A11	23657	broad.mit.edu	37	4	139153492	139153492	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:139153492A>C	ENST00000280612.5	-	3	728	c.449T>G	c.(448-450)aTt>aGt	p.I150S		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	150					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TGGTTCCAGAATGTAGCGTCC	0.368000													40	28					0	0	0.002852	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4566771C>T	ENST00000360213.1	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCATCTTCCTTGCCATGG	0.522000													40	16					0	0	0.002852	0	0
TECPR1	25851	broad.mit.edu	37	7	97874210	97874210	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97874210G>T	ENST00000447648.2	-	4	694	c.395C>A	c.(394-396)cCc>cAc	p.P132H	TECPR1_ENST00000379795.3_Missense_Mutation_p.P132H|TECPR1_ENST00000542604.1_Missense_Mutation_p.P53H			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	132						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTCTCAGTGGGTTCACCTCC	0.642000													17	35					1.2644e-06	2.04217e-06	0.001523	1	0
ALS2	57679	broad.mit.edu	37	2	202603418	202603418	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202603418A>C	ENST00000264276.6	-	12	2764	c.2392T>G	c.(2392-2394)Ttc>Gtc	p.F798V	ALS2_ENST00000457679.2_Missense_Mutation_p.F110V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	798	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAAGCTGGAATCCTCCCATA	0.388000													8	14					0	0	0.000673	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764449	140764449	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140764449C>T	ENST00000518325.1	+	1	1983	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACACTCACCGTGGCTGTGG	0.642000													9	36					0	0	0.006214	0	0
ADAM19	8728	broad.mit.edu	37	5	156946919	156946919	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156946919G>A	ENST00000257527.4	-	6	606	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.F178F|ADAM19_ENST00000517905.1_Silent_p.F176F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	176					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGTGCTCGAACCCACAGT	0.557000													17	145					0	0	0.004990	0	0
AMER1	139285	broad.mit.edu	37	X	63411267	63411267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:63411267G>A	ENST00000330258.3	-	2	2172	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	AMER1_ENST00000374869.3_Missense_Mutation_p.R634C|AMER1_ENST00000403336.1_Missense_Mutation_p.R634C	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCTCTACAACGAACCTCTCGG	0.612000													23	3					0	0	0.002780	0	0
NCOR2	9612	broad.mit.edu	37	12	124857021	124857021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:124857021G>A	ENST00000356219.3	-	21	2509	c.2354C>T	c.(2353-2355)cCa>cTa	p.P785L	NCOR2_ENST00000404121.2_Missense_Mutation_p.P338L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P785L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P767L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P768L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P767L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	785	Pro-rich.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCGGTGGTGGGGTGGGTGG	0.736000													6	10					0	0	0.001168	0	0
DNAH17	8632	broad.mit.edu	37	17	76498986	76498986	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76498986G>A	ENST00000389840.5	-	32	5176	c.5052C>T	c.(5050-5052)atC>atT	p.I1684I	DNAH17_ENST00000585328.1_Silent_p.I1685I|DNAH17-AS1_ENST00000598378.1_3'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTAGTCCAGGATCCACTGCT	0.622000													15	44					0	0	0.004990	0	0
C1RL	51279	broad.mit.edu	37	12	7252584	7252584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7252584C>T	ENST00000266542.4	-	4	621	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	C1RL_ENST00000544702.1_Missense_Mutation_p.G177S|C1RL_ENST00000545280.1_Missense_Mutation_p.G61S	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	177					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTCAGAGCCCCTGCTGGCC	0.597000													4	25					0	0	0.000248	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956109	32956109	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:32956109G>A	ENST00000321639.5	+	5	1282	c.954G>A	c.(952-954)agG>agA	p.R318R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	318						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCAAGCGGAGGATCATGTGGC	0.612000													57	93					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29994971	29994971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:29994971C>T	ENST00000308893.4	+	13	2451	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TAOK2_ENST00000416441.2_Nonsense_Mutation_p.R297*|TAOK2_ENST00000279394.3_Nonsense_Mutation_p.R470*|TAOK2_ENST00000543033.1_Nonsense_Mutation_p.R470*	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.R470R(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCCACCATCCGAACCGCCTC	0.587000													57	154					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115222291	115222291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:115222291G>A	ENST00000369538.3	-	6	940	c.893C>T	c.(892-894)tCc>tTc	p.S298F	AMPD1_ENST00000520113.2_Missense_Mutation_p.S302F|AMPD1_ENST00000353928.6_Missense_Mutation_p.S269F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	269					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTGGAACTTGGAGGAGAGGAA	0.413000													24	75					0	0	0.005443	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:10934997C>T	ENST00000298232.7	-	14	1109	c.741_splice	c.e14-1	p.E248_splice	TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				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)		CGCACAACTTCCTAAAAAAGA	0.333000													11	67					0	0	0.002450	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871644	15871644	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:15871644G>A	ENST00000595525.1	+	0	460				CYP4F24P_ENST00000587443.2_RNA																							GCAGAGAAGGGAATAAAAGCC	0.567000													5	54					0	0	0.000602	0	0
ADAM28	10863	broad.mit.edu	37	8	24199169	24199169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:24199169G>A	ENST00000265769.4	+	16	1839	c.1729G>A	c.(1729-1731)Gga>Aga	p.G577R	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G324R	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	577	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCCCTGGAAAGGACGGATAGT	0.428000													41	24					0	0	0.001951	0	0
TRAF4	9618	broad.mit.edu	37	17	27071154	27071154	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:27071154C>T	ENST00000262395.5	+	1	153	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TRAF4_ENST00000444415.3_Silent_p.F8F|TRAF4_ENST00000262396.6_Silent_p.F8F	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	8					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACTACAAGTTCCTGGAGAAGC	0.716000													10	16					0	0	0.000673	0	0
SCN10A	6336	broad.mit.edu	37	3	38770042	38770042	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38770042C>T	ENST00000449082.2	-	15	2630	c.2631G>A	c.(2629-2631)ggG>ggA	p.G877G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	877					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCACCAGGTTCCCTAGCACCA	0.498000													25	14					0	0	0.006320	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140515442C>T	ENST00000231134.5	+	1	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		142	Cadherin 2.				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)			TCCTAAAAATCCCAGAGAGCA	0.438000													38	64					0	0	0.007835	0	0
POSTN	10631	broad.mit.edu	37	13	38171377	38171377	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:38171377C>T	ENST00000379747.4	-	2	279	c.162G>A	c.(160-162)aaG>aaA	p.K54K	POSTN_ENST00000541179.1_Silent_p.K54K|POSTN_ENST00000379743.4_Silent_p.K54K|POSTN_ENST00000541481.1_Silent_p.K54K|POSTN_ENST00000379749.4_Silent_p.K54K|POSTN_ENST00000379742.4_Silent_p.K54K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	54	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAGTATTTCTTTTTGGTGC	0.353000													8	20					0	0	0.006214	0	0
CRNN	49860	broad.mit.edu	37	1	152382958	152382958	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152382958C>T	ENST00000271835.3	-	3	662	c.600G>A	c.(598-600)agG>agA	p.R200R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	200	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGATTCCTCTTGCCTT	0.542000													141	180					0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107869489	107869489	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:107869489A>C	ENST00000328300.6	+	36	3400	c.3156A>C	c.(3154-3156)caA>caC	p.Q1052H	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1052H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1052	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACAACCTGGCTCCC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				31	12					0	0	0.002836	0	0
KRT72	140807	broad.mit.edu	37	12	52981575	52981575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:52981575C>T	ENST00000293745.2	-	7	1235	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KRT72_ENST00000398066.3_Missense_Mutation_p.D196N|KRT72_ENST00000537672.2_Missense_Mutation_p.D384N|KRT72_ENST00000354310.4_Missense_Mutation_p.D342N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	384	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCCCGGGCATCTTTCAGGGCG	0.642000													17	64					0	0	0.004990	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563781	20563781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20563781C>T	ENST00000202677.6	-	20	2762	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	874					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTATTCAGTTCTGGGTCTTCC	0.488000													8	56					0	0	0.004482	0	0
EPHA7	2045	broad.mit.edu	37	6	94120701	94120701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:94120701C>T	ENST00000369303.4	-	3	534	c.350G>A	c.(349-351)gGa>gAa	p.G117E	EPHA7_ENST00000369297.1_Missense_Mutation_p.G117E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	117						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTGCAAGTTCCCAGTACTCC	0.383000													39	14					0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	70889126	70889126	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:70889126G>A	ENST00000393567.2	-	73	12498	c.12348C>T	c.(12346-12348)ttC>ttT	p.F4116F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4116										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAAAAATCGAACCCCTGCT	0.542000													50	57					0	0	0.003610	0	0
PDHX	8050	broad.mit.edu	37	11	34991824	34991824	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:34991824C>T	ENST00000448838.3	+	7	1152	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PDHX_ENST00000227868.4_Silent_p.L319L|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	319					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TAGGCAAGATCTGGTCAAAGG	0.303000													16	6					0	0	0.001216	0	0
FRYL	285527	broad.mit.edu	37	4	48563556	48563556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:48563556G>A	ENST00000537810.1	-	33	4398	c.3794C>T	c.(3793-3795)tCt>tTt	p.S1265F	FRYL_ENST00000507711.1_Missense_Mutation_p.S1265F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.S1265F|FRYL_ENST00000358350.4_Missense_Mutation_p.S1265F			O94915	FRYL_HUMAN	FRY-like	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGAAACAGAATAGAGATG	0.438000													21	19					0	0	0.001523	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909860	7909860	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7909860C>T	ENST00000254854.4	+	4	1356	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	402					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCCCCCATTCGTGCTGCTAG	0.667000													8	32					0	0	0.003080	0	0
SOCS5	9655	broad.mit.edu	37	2	46987053	46987053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:46987053C>T	ENST00000306503.5	+	2	1556	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	SOCS5_ENST00000394861.2_Missense_Mutation_p.P462S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	462	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATAAAGATCCCAGTTCGTG	0.433000													49	30					0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700301	136700301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:136700301C>T	ENST00000445907.2	+	3	1217	c.689C>T	c.(688-690)cCc>cTc	p.P230L	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P230L|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P230L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P230L|CHRM2_ENST00000397608.3_Missense_Mutation_p.P230L|CHRM2_ENST00000320658.5_Missense_Mutation_p.P230L|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	230					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AACCAAGACCCCGTTTCTCCA	0.488000													4	37					0	0	0.000602	0	0
C20orf197	284756	broad.mit.edu	37	20	58645808	58645808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:58645808G>A	ENST00000313426.1	+	4	532	c.226G>A	c.(226-228)Gga>Aga	p.G76R		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	76										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GAAGATAGAGGGACTTCTGCA	0.468000													26	33					0	0	0.006320	0	0
CDCP1	64866	broad.mit.edu	37	3	45134801	45134801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:45134801C>T	ENST00000296129.1	-	6	1729	c.1595G>A	c.(1594-1596)gGt>gAt	p.G532D		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	532	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CACCGTCAGACCCTGCCTGGA	0.502000													24	44					0	0	0.006320	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228884867C>T	ENST00000392056.3	-	7	749	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E235K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	235						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTATATTTTCATAATCTAGT	0.343000													25	36					0	0	0.006320	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517266	26517266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:26517266C>T	ENST00000456354.2	+	1	215	c.148C>T	c.(148-150)Cac>Tac	p.H50Y		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	50					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTACCATTCACGAGTCCTA	0.627000													7	10					0	0	0.006214	0	0
PDILT	204474	broad.mit.edu	37	16	20384349	20384349	+	Silent	SNP	G	G	A	rs145263436		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:20384349G>A	ENST00000302451.4	-	6	1025	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	259					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.I259I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTTGTATTCGATCACAAAAT	0.443000													47	45					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325873	79325873	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:79325873G>A	ENST00000428286.1	-	8	1440	c.240C>T	c.(238-240)tcC>tcT	p.S80S	PRUNE2_ENST00000376718.3_Silent_p.S439S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	439					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCTCTCCTTGGATGAGCGGC	0.572000													9	13					0	0	0.006214	0	0
ASIC4	55515	broad.mit.edu	37	2	220396617	220396617	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:220396617G>A	ENST00000358078.4	+	2	1115	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	ASIC4_ENST00000347842.3_Silent_p.R367R|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	367						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCATCTGGAGGGAGACAAGTA	0.667000													29	38					0	0	0.001512	0	0
SVEP1	79987	broad.mit.edu	37	9	113170290	113170290	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:113170290G>A	ENST00000401783.2	-	38	7926	c.7590C>T	c.(7588-7590)ctC>ctT	p.L2530L	SVEP1_ENST00000297826.5_Silent_p.L456L|SVEP1_ENST00000374469.1_Silent_p.L2507L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2530	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGACCTTCGAGCCGAAAGC	0.493000													5	13					0	0	0.000602	0	0
GPR128	84873	broad.mit.edu	37	3	100348442	100348442	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:100348442G>A	ENST00000273352.3	+	2	384	c.115_splice	c.e2-1	p.G39_splice		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	39					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTTTCTTTAGGAAAATCTACT	0.408000													9	28					0	0	0.004482	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993706	45993706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45993706C>T	ENST00000400374.3	+	1	101	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	24						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GACTCTTGCTCCGACTCCTGG	0.682000													23	92					0	0	0.005443	0	0
RGS4	5999	broad.mit.edu	37	1	163042204	163042204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:163042204C>T	ENST00000421743.2	+	3	515	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RGS4_ENST00000531057.1_Missense_Mutation_p.R22W|RGS4_ENST00000367909.6_Missense_Mutation_p.R22W|RGS4_ENST00000367908.4_Missense_Mutation_p.R22W|RGS4_ENST00000527809.1_Missense_Mutation_p.R4W|RGS4_ENST00000367906.3_Missense_Mutation_p.R4W|RGS4_ENST00000491263.1_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	22	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TATGAAACATCGGCTAGGTTT	0.378000													8	30					0	0	0.004482	0	0
DDX11	1663	broad.mit.edu	37	12	31254895	31254895	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:31254895C>T	ENST00000407793.2	+	21	2432	c.2181C>T	c.(2179-2181)ggC>ggT	p.G727G	DDX11_ENST00000545668.1_Silent_p.G727G|DDX11_ENST00000228264.6_Silent_p.G701G|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.G727G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	727					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCCTGCTGGGCCGTCTGGCTG	0.637000										Multiple Myeloma(12;0.14)			8	9					0	0	0.001368	0	0
ZNF474	133923	broad.mit.edu	37	5	121488633	121488633	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:121488633G>A	ENST00000296600.4	+	2	1331	c.948G>A	c.(946-948)caG>caA	p.Q316Q	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	316						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CAAAATATCAGAATTTGAATT	0.438000													35	9					0	0	0.003755	0	0
AASS	10157	broad.mit.edu	37	7	121773576	121773576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:121773576C>T	ENST00000393376.1	-	1	300	c.205G>A	c.(205-207)Gat>Aat	p.D69N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.D69N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	69	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCACCTTATCATGAATGGCC	0.423000													13	72					0	0	0.001855	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361735	105361735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:105361735C>T	ENST00000297581.2	+	2	1004	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	319					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCTGCTGTATCGGCTCATTTT	0.483000													53	160					0	0	0.003610	0	0
ZNF618	114991	broad.mit.edu	37	9	116812253	116812253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:116812253C>T	ENST00000288466.7	+	14	2491	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*	ZNF618_ENST00000374126.5_Nonsense_Mutation_p.Q891*|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGATCTCTTCCAGTACTGGTC	0.577000													26	33					0	0	0.003954	0	0
ZNF425	155054	broad.mit.edu	37	7	148815384	148815384	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:148815384G>A	ENST00000378061.2	-	2	207	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	25	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTTCTCCAGGATCTCCCACT	0.393000													76	158					0	0	0.003610	0	0
FABP2	2169	broad.mit.edu	37	4	120241921	120241921	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:120241921G>A	ENST00000274024.3	-	2	431	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	48							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						CTTTGACTGTGAATTTATTTC	0.358000													25	22					0	0	0.003954	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998981	27998981	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:27998981G>A	ENST00000441525.1	-	1	585	c.471C>T	c.(469-471)gtC>gtT	p.V157V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	157										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GAGCAGTAAGGACTTGCCAGC	0.562000													13	2					0	0	0.001855	0	0
DIAPH3	81624	broad.mit.edu	37	13	60565337	60565337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:60565337G>A	ENST00000400324.4	-	12	1536	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	DIAPH3_ENST00000400320.1_Missense_Mutation_p.S393F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S428F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S439F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S439F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.S369F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	439	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGAAGAATAGAAATAAAATA	0.294000													7	38					0	0	0.001984	0	0
HTR1A	3350	broad.mit.edu	37	5	63256644	63256644	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:63256644G>A	ENST00000323865.3	-	1	1136	c.903C>T	c.(901-903)tcC>tcT	p.S301S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	301					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTGCTCTTTGGAGTTGCCCA	0.642000													7	31					0	0	0.003080	0	0
CCNB3	85417	broad.mit.edu	37	X	50052425	50052425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:50052425C>T	ENST00000376042.1	+	6	1554	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S419F|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	419					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGCCATTGTCCATTAAAGAA	0.473000													51	7					0	0	0.003610	0	0
ZNF669	79862	broad.mit.edu	37	1	247263852	247263852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247263852G>A	ENST00000343381.6	-	4	1391	c.1219C>T	c.(1219-1221)Ctc>Ttc	p.L407F	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.L321F	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTTTCGTGGAGGTGAAGGGAA	0.428000													86	40					0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	97981487	97981487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:97981487C>T	ENST00000370192.3	-	13	1635	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	512					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AACGGAAGCTCCATATTGTGA	0.363000													7	12					0	0	0.001984	0	0
CYFIP2	26999	broad.mit.edu	37	5	156810362	156810362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:156810362C>T	ENST00000347377.6	+	28	3633	c.3202C>T	c.(3202-3204)Cct>Tct	p.P1068S	CYFIP2_ENST00000318218.6_Missense_Mutation_p.P1093S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.P767S|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P1042S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P1068S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.P872S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P993S|CTB-47B11.3_ENST00000508443.1_RNA|CTB-47B11.3_ENST00000520658.1_RNA	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1093					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGGGGACCCCTCAGGTACC	0.542000													39	280					0	0	0.002222	0	0
DDN	23109	broad.mit.edu	37	12	49390542	49390542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:49390542C>T	ENST00000421952.2	-	2	2138	c.2117G>A	c.(2116-2118)gGa>gAa	p.G706E		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	706	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCCTATTTCCCTGTTGGGT	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	19					0	0	0.003755	0	0
RFWD2	64326	broad.mit.edu	37	1	175958589	175958589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:175958589G>A	ENST00000367669.3	-	16	2270	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RFWD2_ENST00000308769.8_Missense_Mutation_p.R562C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	586					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGTGTTACGAAGATCATAG	0.348000													9	55					0	0	0.004482	0	0
JAG2	3714	broad.mit.edu	37	14	105618332	105618332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:105618332G>A	ENST00000331782.3	-	7	1385	c.982C>T	c.(982-984)Cct>Tct	p.P328S	JAG2_ENST00000347004.2_Missense_Mutation_p.P328S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	328	EGF-like 3.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TACTGGTCAGGCTCGGCGTTG	0.657000													10	24					0	0	0.000673	0	0
NETO1	81832	broad.mit.edu	37	18	70526247	70526247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:70526247C>T	ENST00000327305.6	-	4	940	c.283G>A	c.(283-285)Gag>Aag	p.E95K	NETO1_ENST00000299430.2_Missense_Mutation_p.E94K|NETO1_ENST00000397929.1_Missense_Mutation_p.E94K|NETO1_ENST00000583169.1_Missense_Mutation_p.E95K|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	95	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATTTGCACTCCCAAGACGGT	0.388000													15	44					0	0	0.002450	0	0
BCAT1	586	broad.mit.edu	37	12	24989496	24989496	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:24989496G>A	ENST00000261192.7	-	8	1378	c.852C>T	c.(850-852)atC>atT	p.I284I	BCAT1_ENST00000539282.1_Silent_p.I296I|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Silent_p.I223I|BCAT1_ENST00000539780.1_Silent_p.I247I|BCAT1_ENST00000538118.1_Silent_p.I283I	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	284					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGAAGAATGATGCCATCTA	0.418000													13	7					0	0	0.002450	0	0
DOCK4	9732	broad.mit.edu	37	7	111584865	111584865	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:111584865C>T	ENST00000428084.1	-	10	1117		c.e10+1		DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000437633.1_Splice_Site			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTTATACCTACCGATTCGGAT	0.403000													28	49					0	0	0.001786	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839562	100839562	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:100839562G>A	ENST00000223114.4	-	6	943	c.777C>T	c.(775-777)ctC>ctT	p.L259L	MOGAT3_ENST00000440203.2_Silent_p.L259L|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	259					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAAGCCCATGAGCTTCTTGA	0.567000													36	4					0	0	0.004289	0	0
C11orf40	143501	broad.mit.edu	37	11	4598922	4598922	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4598922G>A	ENST00000307616.1	-	1	128	c.129C>T	c.(127-129)acC>acT	p.T43T		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	43										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ttggcttcagggtcagcagct	0.557000													43	14					0	0	0.006999	0	0
RTN1	6252	broad.mit.edu	37	14	60212431	60212431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:60212431C>T	ENST00000267484.5	-	2	1345	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	337					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTTACCTGTTCCAGAAGATGG	0.438000													27	41					0	0	0.001786	0	0
GALNT15	117248	broad.mit.edu	37	3	16261495	16261495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:16261495C>T	ENST00000339732.5	+	8	2106	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	GALNT15_ENST00000437509.1_Missense_Mutation_p.P535S	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGTGTTGGCTCCTTGCAGTGA	0.547000													78	64					0	0	0.003610	0	0
FAM105A	54491	broad.mit.edu	37	5	14601342	14601342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:14601342G>A	ENST00000274217.3	+	3	365	c.245G>A	c.(244-246)aGa>aAa	p.R82K		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	82										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TATCTGCAGAGAAAATTCAAA	0.299000													6	48					0	0	0.003080	0	0
MOXD1	26002	broad.mit.edu	37	6	132645139	132645139	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:132645139G>A	ENST00000367963.3	-	7	1162	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	MOXD1_ENST00000336749.3_Silent_p.F280F|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	348					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGATGGTATGGAAGAGGCTCA	0.488000													19	32					0	0	0.007413	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818558	23818558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:23818558G>A	ENST00000354772.3	-	4	952	c.449C>T	c.(448-450)tCc>tTc	p.S150F	SLC22A17_ENST00000397260.3_Missense_Mutation_p.S39F|SLC22A17_ENST00000397267.1_Missense_Mutation_p.S150F|SLC22A17_ENST00000206544.8_Missense_Mutation_p.S150F|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	150					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCTGTGGAGGAGCCTGCAGC	0.607000													12	15					0	0	0.000978	0	0
DPF3	8110	broad.mit.edu	37	14	73190401	73190401	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:73190401C>T	ENST00000541685.1	-	5	477	c.465G>A	c.(463-465)ggG>ggA	p.G155G	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Silent_p.G155G|DPF3_ENST00000546183.1_Silent_p.G165G	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	155					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCATTCCCTTCTTCTA	0.403000													55	23					0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149510823	149510823	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:149510823C>T	ENST00000378016.2	+	0	10108							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCTGGACCTGCTGACCGG	0.697000													39	4					0	0	0.006230	0	0
SEMA3B	7869	broad.mit.edu	37	3	50312345	50312345	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:50312345G>A	ENST00000418948.1	+	0	1663							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGCTCCTGGAGGAGCTGCA	0.662000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	15					0	0	0.003163	0	0
PKP4	8502	broad.mit.edu	37	2	159530252	159530252	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:159530252C>T	ENST00000389757.3	+	18	3113	c.2988C>T	c.(2986-2988)gaC>gaT	p.D996D	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.D996D	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	996					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AATATCGGGACCTCCGGAGCA	0.398000										HNSCC(62;0.18)			14	18					0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882609	228882609	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:228882609C>T	ENST00000392056.3	-	7	3007	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	SPHKAP_ENST00000344657.5_Silent_p.G987G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	987						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGGTCCCGCTCCCCTGGCTCT	0.532000													18	36					0	0	0.001523	0	0
THSD7B	80731	broad.mit.edu	37	2	138330034	138330034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:138330034G>A	ENST00000409968.1	+	17	3509	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1083N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1114N					thrombospondin, type I, domain containing 7B									p.D1083N(1)|p.D1114N(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGCAACCAGGATGAAATTCC	0.453000													11	18					0	0	0.000673	0	0
DNAH17	8632	broad.mit.edu	37	17	76491083	76491083	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:76491083G>A	ENST00000389840.5	-	39	6082	c.5958C>T	c.(5956-5958)ttC>ttT	p.F1986F	DNAH17_ENST00000585328.1_Silent_p.F1995F|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGTGATGAACTTCCTGG	0.597000													14	9					0	0	0.004007	0	0
RFX2	5990	broad.mit.edu	37	19	5997073	5997073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:5997073C>T	ENST00000303657.5	-	16	2160	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	RFX2_ENST00000359161.3_Missense_Mutation_p.E671K|RFX2_ENST00000592546.1_Missense_Mutation_p.E646K|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCCTCACCTCTCCCATCACA	0.672000													26	26					0	0	0.007291	0	0
IQCA1	79781	broad.mit.edu	37	2	237233422	237233422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:237233422C>T	ENST00000409907.3	-	19	2652	c.2378G>A	c.(2377-2379)tGg>tAg	p.W793*	IQCA1_ENST00000431676.2_Nonsense_Mutation_p.W752*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.W790*			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	793							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGGCATACCAGTTCTGAAA	0.418000													6	5					0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161005	233161005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:233161005C>T	ENST00000258229.8	-	26	4726	c.4492G>A	c.(4492-4494)Gaa>Aaa	p.E1498K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E150K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1498						integral to membrane		p.E1498Q(1)		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)				TGCGTGATTTCCCAGGTGAGC	0.612000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	132					0	0	0.002096	0	0
KLF17	128209	broad.mit.edu	37	1	44595756	44595756	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44595756G>A	ENST00000372299.3	+	2	871	c.813G>A	c.(811-813)ggG>ggA	p.G271G	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	271					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CTCAGGAAGGGACTGGTAGAA	0.562000													20	25					0	0	0.001882	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517586	75517586	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:75517586C>T	ENST00000318622.4	+	5	1220	c.591C>T	c.(589-591)agC>agT	p.S197S	RHBDD2_ENST00000428119.1_Silent_p.S197S|RHBDD2_ENST00000006777.6_Silent_p.S338S|RHBDD2_ENST00000468304.1_3'UTR	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	338						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTGTGAACAGCCCTGGCACGG	0.622000													128	70					0	0	0.003610	0	0
COG1	9382	broad.mit.edu	37	17	71197773	71197773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:71197773C>T	ENST00000299886.4	+	7	1887	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	603					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ACAGGATGCCCTCAACAGTGC	0.572000													4	23					0	0	0.000248	0	0
HCN4	10021	broad.mit.edu	37	15	73615779	73615779	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:73615779C>T	ENST00000261917.3	-	8	3648	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	885					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCACAGGCCCCGGGGGGTG	0.667000													6	14					0	0	0.001168	0	0
ERN2	10595	broad.mit.edu	37	16	23706640	23706640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:23706640C>T	ENST00000256797.4	-	15	1993	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	ERN2_ENST00000457008.2_Missense_Mutation_p.E509K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	561	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTGAACTTCCCGCCGAACC	0.642000													4	6					0	0	0.000602	0	0
LMTK3	114783	broad.mit.edu	37	19	49001172	49001172	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:49001172G>A	ENST00000600059.1	-	11	3381	c.3154C>T	c.(3154-3156)Ctg>Ttg	p.L1052L	LMTK3_ENST00000270238.3_Silent_p.L1081L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTCTCTCCAGAGAGGTCTCT	0.706000													3	2					0	0	0.004672	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993841	140993841	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:140993841C>T	ENST00000285879.4	+	4	937	c.651C>T	c.(649-651)tcC>tcT	p.S217S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	217							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCCCCTGAGAGAA	0.493000										HNSCC(15;0.026)			80	56					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55538772	55538772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538772G>A	ENST00000220676.1	+	4	2478	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	777					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAACCAAAAGAAAATCTAGA	0.299000													13	31					0	0	0.002450	0	0
PIAS3	10401	broad.mit.edu	37	1	145578202	145578202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:145578202G>A	ENST00000393045.2	+	2	255	c.165G>A	c.(163-165)atG>atA	p.M55I	PIAS3_ENST00000369298.1_Missense_Mutation_p.M55I|PIAS3_ENST00000369299.3_Missense_Mutation_p.M46I	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	55					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGTCCAGATGAAGATCAAAG	0.587000													119	57					0	0	0.003610	0	0
MS4A14	84689	broad.mit.edu	37	11	60184081	60184081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:60184081C>T	ENST00000300187.6	+	5	1917	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	MS4A14_ENST00000395005.2_Missense_Mutation_p.S530F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S435F|MS4A14_ENST00000531783.1_Missense_Mutation_p.S580F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	547	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAGGCACTCCGTAGATAAG	0.453000													27	20					0	0	0.001512	0	0
BEST3	144453	broad.mit.edu	37	12	70048913	70048913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:70048913C>T	ENST00000330891.5	-	10	2007	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	BEST3_ENST00000553096.1_Missense_Mutation_p.G488E|BEST3_ENST00000488961.1_Missense_Mutation_p.G381E|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	594						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCCCAGGAATCCCGGAAGACT	0.507000													120	30					0	0	0.003610	0	0
BRINP1	1620	broad.mit.edu	37	9	121929812	121929812	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:121929812G>A	ENST00000265922.3	-	8	2297	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		612					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGACCGTCTCGAAAAATGTTT	0.552000													24	84					0	0	0.003330	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058541	152058541	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:152058541G>A	ENST00000368806.1	-	3	1681	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	539							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTCTGTGTGAATGGTGACT	0.527000													25	90					0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6700950	6700950	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6700950G>A	ENST00000309577.6	-	21	3295	c.3132C>T	c.(3130-3132)gcC>gcT	p.A1044A	CHD4_ENST00000357008.2_Silent_p.A1044A|CHD4_ENST00000544040.1_Silent_p.A1037A|CHD4_ENST00000544484.1_Silent_p.A1041A			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1044					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTCTGATTAGGGCACTGCCAT	0.438000													8	21					0	0	0.003080	0	0
KAT2A	2648	broad.mit.edu	37	17	40266928	40266928	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:40266928G>A	ENST00000225916.5	-	13	2054	c.2001C>T	c.(1999-2001)atC>atT	p.I667I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	667					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTTCTTGATGATGTGGGACA	0.552000													56	90					0	0	0.003610	0	0
DGUOK	1716	broad.mit.edu	37	2	74173931	74173931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:74173931C>T	ENST00000264093.4	+	3	426	c.341C>T	c.(340-342)tCc>tTc	p.S114F	DGUOK_ENST00000356837.6_Missense_Mutation_p.S92F|DGUOK_ENST00000348222.1_Missense_Mutation_p.S114F|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	114					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGACATTTTCCTTTTTGAGC	0.507000													12	37					0	0	0.000978	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216017	149216017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:149216017C>T	ENST00000309241.5	+	8	2031	c.1999C>T	c.(1999-2001)Cac>Tac	p.H667Y	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.H628Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.H667Y|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.H603Y	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	667					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTCCTGTCCCACCTGCGACA	0.642000													15	76					0	0	0.002450	0	0
DOCK4	9732	broad.mit.edu	37	7	111430560	111430560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:111430560G>A	ENST00000428084.1	-	31	3540	c.3268C>T	c.(3268-3270)Cat>Tat	p.H1090Y	DOCK4_ENST00000437633.1_Missense_Mutation_p.H1090Y			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1090					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCATATCATGAAAAATTGGA	0.483000													20	55					0	0	0.002299	0	0
TEAD4	7004	broad.mit.edu	37	12	3129854	3129854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:3129854C>T	ENST00000359864.2	+	9	828	c.638C>T	c.(637-639)cCa>cTa	p.P213L	TEAD4_ENST00000358409.2_Missense_Mutation_p.P170L|TEAD4_ENST00000397122.2_Missense_Mutation_p.P84L	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	213					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCGGCACCCCCATGGCAGGGC	0.662000													8	43					0	0	0.004482	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825463	64825463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64825463G>A	ENST00000358658.3	-	3	391	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	NAALADL1_ENST00000355369.2_Missense_Mutation_p.P122S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P122S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P122S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P122S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P122S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	122					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCAGTGGGGCCCACTGTT	0.652000													23	68					0	0	0.004656	0	0
GAB4	128954	broad.mit.edu	37	22	17445721	17445721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:17445721G>A	ENST00000400588.1	-	8	1518	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	471										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGAGATGGGGTGTTGGGAG	0.572000													14	52					0	0	0.004007	0	0
SF3A3	10946	broad.mit.edu	37	1	38435130	38435130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:38435130G>A	ENST00000373019.4	-	14	2132	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	SF3A3_ENST00000448721.2_Missense_Mutation_p.P340S	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	393					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCAGTAGGGAATAGGCTAA	0.413000													27	29					0	0	0.007291	0	0
RDH12	145226	broad.mit.edu	37	14	68191281	68191281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:68191281G>A	ENST00000551171.1	+	4	484	c.160G>A	c.(160-162)Gag>Aag	p.E54K	RDH12_ENST00000267502.3_Missense_Mutation_p.E54K|RDH12_ENST00000539142.1_Missense_Mutation_p.E54K	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	54					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CATTGGCAAGGAGACGGCCAG	0.557000													11	15					0	0	0.000673	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37440991	37440991	+	Missense_Mutation	SNP	C	C	T	rs45515098		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37440991C>T	ENST00000374660.1	+	12	1580	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P494L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P494L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	550						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATCCGATGTTCCCA	0.294000													26	26					0	0	0.006320	0	0
NACA	4666	broad.mit.edu	37	12	57111330	57111330	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57111330G>A	ENST00000454682.1	-	3	4265	c.3984C>T	c.(3982-3984)ccC>ccT	p.P1328P	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCTTTGGGGGGTGGGGTAC	0.632000			T	BCL6	NHL								22	116					0	0	0.005443	0	0
IDI2	91734	broad.mit.edu	37	10	1066776	1066776	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:1066776C>T	ENST00000277517.1	-	4	361	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	99	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CGATGGCATCCTTTTCTTCCA	0.522000													12	6					0	0	0.000978	0	0
RARS	5917	broad.mit.edu	37	5	167920929	167920929	+	Missense_Mutation	SNP	C	C	T	rs145783542		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:167920929C>T	ENST00000231572.3	+	4	454	c.400C>T	c.(400-402)Cca>Tca	p.P134S	RARS_ENST00000538719.1_Intron	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	134					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAAGTTAATCCAAGAGAAAT	0.358000													9	49					0	0	0.001855	0	0
ZNF180	7733	broad.mit.edu	37	19	44981195	44981195	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:44981195G>A	ENST00000221327.4	-	5	1784	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ZNF180_ENST00000391956.4_Silent_p.S476S|ZNF180_ENST00000592529.1_Silent_p.S474S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383000													16	43					0	0	0.004007	0	0
CTSO	1519	broad.mit.edu	37	4	156858553	156858553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156858553G>A	ENST00000433477.3	-	5	704	c.635C>T	c.(634-636)tCt>tTt	p.S212F		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	212					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TGAAAATCCAGAATGTGAACC	0.294000													10	21					0	0	0.000978	0	0
CASR	846	broad.mit.edu	37	3	121981248	121981248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:121981248G>A	ENST00000498619.1	+	4	1804	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	CASR_ENST00000296154.5_Missense_Mutation_p.E456K|CASR_ENST00000490131.1_Missense_Mutation_p.E456K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	456					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGAAAGTTGAGGCGTGGCA	0.463000													19	49					0	0	0.002299	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686096	108686096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:108686096C>T	ENST00000397688.2	-	3	1007	c.638G>A	c.(637-639)aGc>aAc	p.S213N	CMKLR1_ENST00000552995.1_Missense_Mutation_p.S213N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S215N|CMKLR1_ENST00000312143.7_Missense_Mutation_p.S215N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S215N	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	215					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CATGTGCCGGCTATACCCCAC	0.557000													26	9					0	0	0.005443	0	0
SYK	6850	broad.mit.edu	37	9	93650881	93650881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:93650881G>A	ENST00000375754.4	+	13	1955	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	SYK_ENST00000375747.1_Missense_Mutation_p.D580N|SYK_ENST00000375746.1_Missense_Mutation_p.D603N|SYK_ENST00000375751.4_Missense_Mutation_p.D580N	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	603	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.D580H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAGATGTACGATCTCATGAA	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								4	7					0	0	0.000248	0	0
CTDSP2	10106	broad.mit.edu	37	12	58217423	58217423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:58217423C>T	ENST00000398073.2	-	8	1081	c.778G>A	c.(778-780)Gac>Aac	p.D260N	CTDSP2_ENST00000547701.1_Missense_Mutation_p.D108N|CTDSP2_ENST00000548823.1_Missense_Mutation_p.D87N	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	260					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GTGTAGACGTCCTCTGCTCCG	0.597000													86	16					0	0	0.003610	0	0
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:72423533G>A	ENST00000359373.5	-	6	1679	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_ENST00000393605.3_Silent_p.D36D|ARAP1_ENST00000426523.1_Silent_p.D31D|ARAP1_ENST00000393609.3_Silent_p.D276D|ARAP1_ENST00000455638.2_Silent_p.D276D|ARAP1_ENST00000429686.1_Silent_p.D31D|ARAP1_ENST00000334211.8_Silent_p.D31D			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	276					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						CCCCTTGGTCGTCCCCAGACA	0.682000													86	195					0	0	0.003610	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386159	44386159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:44386159C>T	ENST00000335430.6	+	8	770	c.593C>T	c.(592-594)tCa>tTa	p.S198L	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.F330F|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.F314F|ST3GAL3_ENST00000361746.4_Silent_p.F345F|ST3GAL3_ENST00000372372.2_Silent_p.F314F|ST3GAL3_ENST00000347631.2_Silent_p.F291F|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361400.4_Silent_p.F260F|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Silent_p.F330F|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.F245F|ST3GAL3_ENST00000361392.4_Silent_p.F276F|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000262915.3_Silent_p.F345F|ST3GAL3_ENST00000372374.2_Silent_p.F245F			Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	0					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ACCCATATTTCATCCAGGAGG	0.577000													19	37					0	0	0.007413	0	0
LRRK1	79705	broad.mit.edu	37	15	101595334	101595334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:101595334C>T	ENST00000284395.5	+	28	4629	c.4229C>T	c.(4228-4230)tCg>tTg	p.S1410L	LRRK1_ENST00000388948.3_Missense_Mutation_p.S1413L|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1413	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TACGGGATTTCGAGGCAGTCA	0.522000													38	38					0	0	0.007835	0	0
ESM1	11082	broad.mit.edu	37	5	54281313	54281313	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:54281313G>A	ENST00000381405.4	-	1	178	c.33C>T	c.(31-33)ctC>ctT	p.L11L	ESM1_ENST00000381403.4_Silent_p.L11L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	11					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTGCAGGCACGAGGAGCGTGG	0.602000													5	43					0	0	0.000602	0	0
PTPRD	5789	broad.mit.edu	37	9	8501060	8501060	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:8501060C>T	ENST00000381196.4	-	21	2366		c.e21-1		PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGACGGCTCTTATTTTGGT	0.383000										TSP Lung(15;0.13)			4	4					0	0	0.000248	0	0
RASA3	22821	broad.mit.edu	37	13	114766341	114766341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:114766341G>A	ENST00000334062.7	-	19	1931	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RASA3_ENST00000389544.4_Missense_Mutation_p.R572C	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	604	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTGGTCAAGCGAAACCATCTC	0.537000													37	20					0	0	0.002852	0	0
CASR	846	broad.mit.edu	37	3	122003000	122003000	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:122003000C>T	ENST00000498619.1	+	7	2667	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	CASR_ENST00000296154.5_Silent_p.F733F|CASR_ENST00000490131.1_Silent_p.F733F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	733					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCACCTTCATGCAGATTG	0.577000													15	34					0	0	0.003163	0	0
SLC25A28	81894	broad.mit.edu	37	10	101372327	101372327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:101372327G>A	ENST00000370495.4	-	3	578	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	184					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.H184N(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GCTGCATCATGAAGTAATGTT	0.498000											OREG0020433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	87					0	0	0.003271	0	0
KDM4D	55693	broad.mit.edu	37	11	94731674	94731674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:94731674C>T	ENST00000335080.5	+	3	1970	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	KDM4D_ENST00000536741.1_Missense_Mutation_p.H380Y	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	380					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCCTTCCCACTGGGCCCG	0.632000													15	13					0	0	0.002450	0	0
CEP170B	283638	broad.mit.edu	37	14	105355926	105355926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:105355926C>T	ENST00000453495.1	+	13	4045	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	CEP170B_ENST00000556508.1_Missense_Mutation_p.P1202S|CEP170B_ENST00000418279.1_Intron|CEP170B_ENST00000414716.3_Intron					centrosomal protein 170B																		CCACGGCTCCCCCAAACACAC	0.667000													9	8					0	0	0.006214	0	0
KIF5A	3798	broad.mit.edu	37	12	57971510	57971510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57971510G>A	ENST00000455537.2	+	21	2589	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R683Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	772					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTACGAGCGACATGAGCAG	0.498000													8	95					0	0	0.004482	0	0
PSD3	23362	broad.mit.edu	37	8	18413764	18413764	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:18413764C>T	ENST00000440756.2	-	15	2991	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K	PSD3_ENST00000327040.8_Silent_p.K961K|PSD3_ENST00000286485.8_Silent_p.K427K|PSD3_ENST00000523619.1_Silent_p.K896K|PSD3_ENST00000428502.2_Silent_p.K290K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	962					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CATCGACGTCCTTGGCTTTGA	0.473000													43	34					0	0	0.003610	0	0
TIMM44	10469	broad.mit.edu	37	19	7998811	7998811	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7998811G>A	ENST00000270538.3	-	6	889	c.621C>T	c.(619-621)ctC>ctT	p.L207L		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	207					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTCTCTTCCGGAGTCGCTGGG	0.617000													12	40					0	0	0.001368	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:54805757G>A	ENST00000306858.7	+	5	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	663										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAAAGGCGAAGTTTCCCG	0.343000													82	50					0	0	0.003610	0	0
PRMT7	54496	broad.mit.edu	37	16	68386189	68386189	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:68386189C>T	ENST00000339507.5	+	15	2282	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	PRMT7_ENST00000449359.3_Silent_p.S434S|PRMT7_ENST00000348497.4_Silent_p.S336S|PRMT7_ENST00000441236.1_Silent_p.S434S			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	484					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TCACTACCAGCCTGCTGCCGT	0.637000													15	44					0	0	0.007413	0	0
KIRREL	55243	broad.mit.edu	37	1	158063217	158063217	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:158063217C>T	ENST00000368172.1	+	8	1014	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	KIRREL_ENST00000359209.6_Silent_p.L520L|KIRREL_ENST00000360089.4_Silent_p.L356L|KIRREL_ENST00000392272.2_Silent_p.L417L|KIRREL_ENST00000416935.2_Silent_p.L420L|KIRREL_ENST00000368173.3_Silent_p.L536L			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	520	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TATTCTTCCTCTACCGGCGCC	0.602000													22	94					0	0	0.001882	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605484	209605484	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:209605484C>T	ENST00000384891.1	+	0	7					NR_029622.1																						AGAAAAAGATCCTCAGACAAT	0.507000													6	34					0	0	0.001984	0	0
MARCO	8685	broad.mit.edu	37	2	119748191	119748191	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:119748191G>C	ENST00000541757.1	+	14	1236	c.856G>C	c.(856-858)Gga>Cga	p.G286R	MARCO_ENST00000327097.4_Missense_Mutation_p.G364R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	364	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGAAGAAAAGGAGAATCAGG	0.458000													15	33					0	0	0.001216	0	0
BRSK1	84446	broad.mit.edu	37	19	55816924	55816924	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55816924C>T	ENST00000309383.1	+	16	2137	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	BRSK1_ENST00000590333.1_Silent_p.I636I|BRSK1_ENST00000326848.7_Silent_p.I315I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	620					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCAGCAGCATCAAAGCAGACA	0.557000													59	226					0	0	0.003610	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926862	43926862	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:43926862C>T	ENST00000282406.4	+	8	875	c.765C>T	c.(763-765)acC>acT	p.T255T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	255						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCATCAAACCCCTTGTGGCT	0.443000													161	132					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128484222	128484222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:128484222G>A	ENST00000325888.8	+	20	3355	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1032K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1032					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						CATGCCCCCGGAGGAGGGGCC	0.662000													24	28					0	0	0.002780	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707874	26707874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr22:26707874G>A	ENST00000529632.2	+	8	2018	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E381K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E608K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E608K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E381K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	608	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCATCATCGAATGCATCAA	0.592000													162	20					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74004206	74004206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74004206C>T	ENST00000301607.3	-	22	5333	c.5080G>A	c.(5080-5082)Ggg>Agg	p.G1694R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1716R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1694	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGTCCTTCCCCGTCTCGGGT	0.617000													21	68					0	0	0.001882	0	0
SCN5A	6331	broad.mit.edu	37	3	38620979	38620979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:38620979G>A	ENST00000413689.1	-	18	3429	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	SCN5A_ENST00000414099.2_Missense_Mutation_p.S1079F|SCN5A_ENST00000425664.1_Missense_Mutation_p.S1079F|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1078F|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1078F|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1078F|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1079F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1079					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACAGGCTGGGATTCCTGCTG	0.647000													12	17					0	0	0.003163	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657494	72657494	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:72657494C>T	ENST00000425256.1	-	0	2417					NR_002164.1																						ttctggtattcccaccttgtc	0.507000													83	175					0	0	0.003610	0	0
ZFP14	57677	broad.mit.edu	37	19	36831728	36831728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:36831728G>A	ENST00000270001.7	-	5	1115	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCACCAAAATGAATTTTCTGA	0.403000													11	51					0	0	0.000978	0	0
PCDH12	51294	broad.mit.edu	37	5	141324995	141324995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:141324995C>T	ENST00000231484.3	-	4	4716	c.3506G>A	c.(3505-3507)gGg>gAg	p.G1169E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1169					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCAGTCCCCGTCTTTCC	0.617000													10	11					0	0	0.000978	0	0
CNGA3	1261	broad.mit.edu	37	2	99012539	99012539	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:99012539G>A	ENST00000393504.1	+	8	1323	c.906G>A	c.(904-906)agG>agA	p.R302R	CNGA3_ENST00000436404.2_Silent_p.R284R|CNGA3_ENST00000272602.2_Silent_p.R302R|CNGA3_ENST00000409937.1_Silent_p.R306R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	302					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATATGTTCAGGATTGGGAACT	0.468000													50	33					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13900349C>T	ENST00000265104.4	-	15	2329	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome				8	49					0	0	0.004482	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43018724	43018724	+	RNA	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:43018724G>A	ENST00000473592.1	-	0	2529																											TCCAATTTGAGGATCACTTCT	0.428000													10	17					0	0	0.000673	0	0
F2	2147	broad.mit.edu	37	11	46747446	46747446	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:46747446C>T	ENST00000311907.5	+	7	653	c.597C>T	c.(595-597)tcC>tcT	p.S199S	F2_ENST00000530231.1_Silent_p.S199S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	199		Cleavage; by thrombin.			activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CTCCACGCTCCGAAGGCTCCA	0.612000													47	7					0	0	0.003610	0	0
FZD7	8324	broad.mit.edu	37	2	202900514	202900514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:202900514C>T	ENST00000286201.1	+	1	1205	c.1144C>T	c.(1144-1146)Cac>Tac	p.H382Y		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	382					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCAGTACTTCCACCTGGCCGC	0.652000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0.004482	0	0
CCDC173	129881	broad.mit.edu	37	2	170537609	170537609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:170537609C>T	ENST00000447353.1	-	2	307	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CATGCTGCTTCTCTTGTCAAC	0.428000													26	62					0	0	0.001512	0	0
NFAT5	10725	broad.mit.edu	37	16	69727437	69727437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:69727437C>T	ENST00000349945.1	+	14	4979	c.3427C>T	c.(3427-3429)Cca>Tca	p.P1143S	NFAT5_ENST00000393742.2_Missense_Mutation_p.P1143S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1237S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P1219S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P1236S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1143S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1219					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGCTCCCTTCCACCTAATCC	0.522000													17	65					0	0	0.001523	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867998	30867998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:30867998G>A	ENST00000251071.5	-	15	3295	c.2545C>T	c.(2545-2547)Ccc>Tcc	p.P849S	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P848S|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P515S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P793S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P799S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	849					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTAGGTCTGGGAAACACATTC	0.438000													25	44					0	0	0.005443	0	0
DHX34	9704	broad.mit.edu	37	19	47856917	47856917	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:47856917C>T	ENST00000328771.4	+	2	979	c.630C>T	c.(628-630)acC>acT	p.T210T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	210	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGGCGTGCACCCAGCCCCGGC	0.637000													6	20					0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55538384	55538384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:55538384G>A	ENST00000220676.1	+	4	2090	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	648					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTAATTAATGAATTTGCTCA	0.348000													11	20					0	0	0.000673	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102468007	102468007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:102468007C>T	ENST00000360184.4	+	21	4695	c.4531C>T	c.(4531-4533)Ccg>Tcg	p.P1511S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1511	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGCTCTCTCCGTATTACAA	0.502000													21	10					0	0	0.001523	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:247875172C>T	ENST00000302084.2	-	1	933	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000													25	98					0	0	0.001786	0	0
USP5	8078	broad.mit.edu	37	12	6973281	6973281	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:6973281C>T	ENST00000229268.8	+	17	2218	c.2166C>T	c.(2164-2166)ccC>ccT	p.P722P	USP5_ENST00000389231.5_Silent_p.P699P	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	722	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGCCGACCCCCCTCCTGAGG	0.627000													14	78					0	0	0.001855	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152613	50152613	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:50152613C>T	ENST00000284509.6	-	28	3498	c.3357G>A	c.(3355-3357)cgG>cgA	p.R1119R	ATP8B4_ENST00000559829.1_Silent_p.R1119R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1119					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCTGCGGGTCCGAGGCCTTC	0.498000													24	48					0	0	0.002299	0	0
TMEM202	338949	broad.mit.edu	37	15	72691003	72691003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:72691003C>T	ENST00000341689.3	+	2	145	c.91C>T	c.(91-93)Cct>Tct	p.P31S	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	31						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GCCTACCGTCCCTGCCAAGAA	0.532000													27	36					0	0	0.001512	0	0
DMBT1	1755	broad.mit.edu	37	10	124402907	124402907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:124402907C>T	ENST00000338354.3	+	53	7341	c.7235C>T	c.(7234-7236)cCt>cTt	p.P2412L	DMBT1_ENST00000368909.3_Missense_Mutation_p.P2412L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P1132L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1784L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2402L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2402L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1784L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2412					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAGAGGAGCCTCGGTAGGTG	0.612000													3	12					0	0	0.004672	0	0
SMR3A	26952	broad.mit.edu	37	4	71232589	71232589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:71232589C>T	ENST00000226460.4	+	3	379	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	95	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACACTCTCTTCCTCCTCCTTA	0.532000													23	39					0	0	0.006320	0	0
C16orf89	146556	broad.mit.edu	37	16	5110325	5110325	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:5110325C>T	ENST00000315997.5	-	3	672	c.471G>A	c.(469-471)gaG>gaA	p.E157E	C16orf89_ENST00000350219.4_Silent_p.E195E|C16orf89_ENST00000474471.3_Silent_p.E157E|C16orf89_ENST00000472572.3_Silent_p.E157E|C16orf89_ENST00000422873.1_Silent_p.E195E|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	157						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CGTCACTTCTCTCCTCTGAGA	0.602000													15	22					0	0	0.006122	0	0
AKAP3	10566	broad.mit.edu	37	12	4737890	4737890	+	Silent	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4737890G>T	ENST00000545990.2	-	5	702	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	AKAP3_ENST00000228850.1_Silent_p.R60R	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTTTGAACCGAACATCTTGG	0.502000													6	26					0.00116845	0.00187356	0.001168	1	0
TTLL10	254173	broad.mit.edu	37	1	1117796	1117796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:1117796G>A	ENST00000379290.1	+	10	1059	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TTLL10_ENST00000379288.3_Missense_Mutation_p.E223K|TTLL10_ENST00000379289.1_Missense_Mutation_p.E296K			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	296	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTCAAACACGAGAGAGAGGC	0.622000													27	21					0	0	0.002096	0	0
CUX1	1523	broad.mit.edu	37	7	101926061	101926061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:101926061G>A	ENST00000437600.4	+	22	2306	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.A654T|CUX1_ENST00000425244.2_Missense_Mutation_p.A608T|CUX1_ENST00000393824.3_Missense_Mutation_p.A615T|CUX1_ENST00000547394.2_Missense_Mutation_p.A638T	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A654T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCTTCTGCGCCAAGAAGTG	0.662000													7	42					0	0	0.000673	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413575	61413575	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:61413575C>T	ENST00000395348.3	-	5	1845	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G	SLC16A9_ENST00000395347.1_Silent_p.G403G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	403					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACCCTAGGATCCCAGAAAGCA	0.413000													13	48					0	0	0.001855	0	0
TIMM44	10469	broad.mit.edu	37	19	7997560	7997560	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7997560G>A	ENST00000270538.3	-	9	1207	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	313					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCAGAAACCGGTCCTTGTCAA	0.637000													17	41					0	0	0.007413	0	0
DSP	1832	broad.mit.edu	37	6	7581653	7581653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:7581653G>A	ENST00000379802.3	+	23	5571	c.5230G>A	c.(5230-5232)Gat>Aat	p.D1744N	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1744	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCGGACAGTGATAAAAATGC	0.502000													28	154					0	0	0.006320	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478219	42478219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:42478219G>A	ENST00000434000.1	-	9	1274	c.992C>T	c.(991-993)cCc>cTc	p.P331L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P409L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	409						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTAGAAAGGGAAAATTAGG	0.428000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	98					0	0	0.001216	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802354	128802354	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:128802354C>T	ENST00000289407.4	+	3	389	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	94						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CATCTGCCTCCTGCAGACGGT	0.617000													8	53					0	0	0.004482	0	0
TAP2	6891	broad.mit.edu	37	6	32797178	32797178	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:32797178G>A	ENST00000374897.2	-	11	2062	c.1932_splice	c.e11+1	p.A644_splice	TAP2_ENST00000452392.2_Splice_Site_p.A644_splice|TAP2_ENST00000374899.4_Splice_Site_p.A644_splice	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	644	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGTACTCACGGCCTGCTCGCA	0.622000													12	4					0	0	0.001855	0	0
ZNF678	339500	broad.mit.edu	37	1	227843247	227843247	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:227843247C>T	ENST00000343776.4	+	4	1641	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.P487P			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	487					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAGAGAAACCCTACAAATGTA	0.363000													32	13					0	0	0.002096	0	0
SNTG1	54212	broad.mit.edu	37	8	51306823	51306823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:51306823G>A	ENST00000522124.1	+	3	686	c.25G>A	c.(25-27)Gag>Aag	p.E9K	SNTG1_ENST00000518864.1_Missense_Mutation_p.E9K|SNTG1_ENST00000276467.5_Missense_Mutation_p.E9K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E9K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	9					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGCCTGTGAGGAGGTGAGTAC	0.443000													17	27					0	0	0.007413	0	0
LRTM1	57408	broad.mit.edu	37	3	54958747	54958747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:54958747G>A	ENST00000273286.5	-	2	665	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92F|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	168						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGGCATGGATTCCAGGAG	0.478000													18	54					0	0	0.007413	0	0
OGDHL	55753	broad.mit.edu	37	10	50952095	50952095	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:50952095G>A	ENST00000374103.4	-	14	1891	c.1806C>T	c.(1804-1806)acC>acT	p.T602T	OGDHL_ENST00000432695.1_Silent_p.T393T|OGDHL_ENST00000419399.1_Silent_p.T545T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	602					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCCGATGTGGGTGAGCATGT	0.617000													18	21					0	0	0.001216	0	0
KCNB2	9312	broad.mit.edu	37	8	73849858	73849858	+	Silent	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:73849858C>A	ENST00000523207.1	+	3	2856	c.2268C>A	c.(2266-2268)ctC>ctA	p.L756L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	756					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTACCATCCTCTTAGAAGAAA	0.607000													6	113					0.00307968	0.00492749	0.003080	1	0
CCDC62	84660	broad.mit.edu	37	12	123285920	123285920	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:123285920C>T	ENST00000253079.6	+	9	1571	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CCDC62_ENST00000537566.1_Silent_p.L170L|CCDC62_ENST00000392441.4_Silent_p.L409L|CCDC62_ENST00000392440.2_Silent_p.L170L	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	409						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACACAACCTCCCTTGGTCTC	0.418000													12	5					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21225520	21225520	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21225520C>T	ENST00000233242.1	-	29	12901	c.12774G>A	c.(12772-12774)agG>agA	p.R4258R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4258					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTATGTTTCCTTAACTCGA	0.368000													138	424					0	0	0.003610	0	0
GPR4	2828	broad.mit.edu	37	19	46095087	46095087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:46095087G>A	ENST00000323040.4	-	2	982	c.38C>T	c.(37-39)tCg>tTg	p.S13L	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	13						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GTCCACGCGCGAGTCCACGTG	0.687000													11	34					0	0	0.002450	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097711	43097711	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:43097711C>A	ENST00000244336.5	-	2	507	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	136	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGAACTGGCCAGTTACTTCT	0.512000													7	110					0.000157383	0.000253028	0.003080	1	0
C20orf26	26074	broad.mit.edu	37	20	20037323	20037323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:20037323G>A	ENST00000245957.5	+	2	102	c.26G>A	c.(25-27)gGa>gAa	p.G9E	C20orf26_ENST00000451767.2_Missense_Mutation_p.G9E|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.G9E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	9										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTCCAAGAGGAAAGGTAGAA	0.358000													34	33					0	0	0.004289	0	0
ADCY8	114	broad.mit.edu	37	8	131826339	131826339	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:131826339G>T	ENST00000286355.5	-	14	4981	c.2889C>A	c.(2887-2889)ttC>ttA	p.F963L	ADCY8_ENST00000377928.3_Missense_Mutation_p.F832L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTTCTCTAGGAAATGGCGGG	0.522000										HNSCC(32;0.087)			23	55					3.01185e-09	4.87633e-09	0.003954	1	0
DNAH5	1767	broad.mit.edu	37	5	13914702	13914702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:13914702C>T	ENST00000265104.4	-	10	1351	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	416	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCGGTTCCATTATTGGT	0.358000									Kartagener syndrome				42	35					0	0	0.002852	0	0
GCKR	2646	broad.mit.edu	37	2	27730125	27730125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27730125C>T	ENST00000264717.2	+	13	1153	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	GCKR_ENST00000424318.2_Missense_Mutation_p.L174F	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	364	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCGTGGCTTTCTCATTGGTGA	0.493000													187	137					0	0	0.003610	0	0
NGLY1	55768	broad.mit.edu	37	3	25781208	25781208	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:25781208G>A	ENST00000428257.1	-	5	848	c.741C>T	c.(739-741)aaC>aaT	p.N247N	NGLY1_ENST00000417874.2_Silent_p.N205N|NGLY1_ENST00000280700.5_Silent_p.N247N|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000396649.3_Silent_p.N247N	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	247					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGCACAAAACGTTATTCACCC	0.418000													46	54					0	0	0.003610	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15124054	15124054	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:15124054G>A	ENST00000253699.3	-	9	1273	c.660C>T	c.(658-660)ccC>ccT	p.P220P	ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Silent_p.P220P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	220	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGACACTGTTGGGTGACTGGC	0.602000													26	17					0	0	0.007291	0	0
RBP3	5949	broad.mit.edu	37	10	48388736	48388736	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:48388736G>A	ENST00000224600.4	-	1	2255	c.2142C>T	c.(2140-2142)ccC>ccT	p.P714P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	714	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGTGGTGGGGGTGCTTCCT	0.632000													10	31					0	0	0.000978	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651255	156651255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:156651255G>A	ENST00000296518.7	+	10	2154	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E649K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E649K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E649K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.E391K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E649K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	649					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTCCCTAGTGAAATCCCCGG	0.403000													41	46					0	0	0.002852	0	0
FBXL7	23194	broad.mit.edu	37	5	15928222	15928222	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:15928222C>T	ENST00000504595.1	+	3	832	c.351C>T	c.(349-351)ctC>ctT	p.L117L	FBXL7_ENST00000329673.7_Silent_p.L105L|FBXL7_ENST00000510662.1_Silent_p.L70L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	117	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TAGACCGGCTCCCGGACCACT	0.692000													9	3					0	0	0.000978	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495124	96495124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96495124G>A	ENST00000285979.6	+	9	1595	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D407N|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGACCCAAAGGATATTGACAT	0.498000													73	77					0	0	0.003610	0	0
RNASEL	6041	broad.mit.edu	37	1	182544605	182544605	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:182544605G>A	ENST00000367559.3	-	7	2401	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	RNASEL_ENST00000444138.1_Silent_p.F716F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	716	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGTTTGGGGGAAATGCTTTC	0.473000													23	81					0	0	0.002780	0	0
CD163L1	283316	broad.mit.edu	37	12	7527914	7527914	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:7527914G>A	ENST00000313599.3	-	11	3021	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P	CD163L1_ENST00000416109.2_Silent_p.P998P|CD163L1_ENST00000396630.1_Silent_p.P988P			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	988	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATGGATACAGGGAGGTGCTC	0.443000													4	23					0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	G	A	rs146377316		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:21230565G>A	ENST00000233242.1	-	26	9302	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3059					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3059C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGAAAACGAACTTTCAAA	0.403000													123	376					0	0	0.003610	0	0
LILRB5	10990	broad.mit.edu	37	19	54760539	54760539	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:54760539C>T	ENST00000450632.1	-	3	245	c.168G>A	c.(166-168)gaG>gaA	p.E56E	LILRB5_ENST00000449561.2_Silent_p.E56E|LILRB5_ENST00000345866.6_Silent_p.E56E|LILRB5_ENST00000316219.5_Silent_p.E56E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGGTACTCCTCAGTCTCCA	0.627000													34	112					0	0	0.004289	0	0
GTF3C1	2975	broad.mit.edu	37	16	27473718	27473718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:27473718G>A	ENST00000356183.4	-	36	6029	c.6014C>T	c.(6013-6015)gCc>gTc	p.A2005V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1980V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2005						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTACAGCATGGCCTCCATCAT	0.632000													11	5					0	0	0.000673	0	0
MYH3	4621	broad.mit.edu	37	17	10533018	10533018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:10533018G>A	ENST00000583535.1	-	40	5779	c.5692C>T	c.(5692-5694)Cga>Tga	p.R1898*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.R1898*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1898					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGAGCCTTTCGGAATTTGGTG	0.527000													12	35					0	0	0.001368	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731861	96731861	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:96731861G>A	ENST00000260682.6	+	6	832	c.819_splice	c.e6-1	p.E274_splice		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	274					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCATTCCTAGGAAAAGCACAA	0.353000													29	47					0	0	0.007291	0	0
CKMT1A	548596	broad.mit.edu	37	15	43991269	43991269	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:43991269C>T	ENST00000413453.2	+	9	1760	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Silent_p.V412V			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	412					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CCACACCTGTCATCCACACCA	0.502000													46	67					0	0	0.003610	0	0
AIRE	326	broad.mit.edu	37	21	45710883	45710883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:45710883G>A	ENST00000355347.4	+	1	194	c.194G>A	c.(193-195)aGa>aAa	p.R65K	AIRE_ENST00000329347.4_Missense_Mutation_p.R65K|AIRE_ENST00000291582.5_Intron			O43918	AIRE_HUMAN	autoimmune regulator	263	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTACCCAGAGATGCTGCTGG	0.602000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				24	107					0	0	0.003954	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317575	103317575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:103317575G>A	ENST00000233969.2	+	8	1775	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	545						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGATTCGGGAAAACCAACC	0.318000													19	32					0	0	0.006122	0	0
DUXA	503835	broad.mit.edu	37	19	57666704	57666704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:57666704G>A	ENST00000554048.2	-	5	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTTTTTCTCTGGAGAAGTAAT	0.393000													19	54					0	0	0.002299	0	0
LDLR	3949	broad.mit.edu	37	19	11227540	11227540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:11227540C>T	ENST00000558518.1	+	12	1898	c.1711C>T	c.(1711-1713)Ctc>Ttc	p.L571F	LDLR_ENST00000545707.1_Missense_Mutation_p.L444F|LDLR_ENST00000557933.1_Missense_Mutation_p.L571F|LDLR_ENST00000535915.1_Missense_Mutation_p.L530F|LDLR_ENST00000558013.1_Missense_Mutation_p.L571F|LDLR_ENST00000455727.2_Missense_Mutation_p.L403F	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	571					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTAGATCTCCTCAGTGGCCG	0.577000													82	188					0	0	0.003610	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802353	128802353	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:128802353C>T	ENST00000289407.4	+	3	388	c.279C>T	c.(277-279)ctC>ctT	p.L93L		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACATCTGCCTCCTGCAGACGG	0.612000													7	53					0	0	0.003080	0	0
AOX1	316	broad.mit.edu	37	2	201485379	201485379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:201485379G>A	ENST00000374700.2	+	17	1952	c.1711G>A	c.(1711-1713)Ggc>Agc	p.G571S	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	571					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACAGAATATAGGCCCAAAGCA	0.403000													7	15					0	0	0.003080	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607014	58607014	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:58607014G>A	ENST00000287275.1	-	2	462	c.72C>T	c.(70-72)tcC>tcT	p.S24S	GLYATL2_ENST00000532258.1_Silent_p.S24S|GLYATL2_ENST00000533636.1_Intron	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	24						mitochondrion	glycine N-acyltransferase activity	p.S24>?(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTACCTTTATGGATTCAGGGA	0.438000													15	50					0	0	0.006122	0	0
SYNJ1	8867	broad.mit.edu	37	21	34004071	34004071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:34004071G>A	ENST00000382491.3	-	28	3939	c.3815C>T	c.(3814-3816)cCa>cTa	p.P1272L	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1358L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1319L|SYNJ1_ENST00000357345.3_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1319	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AATCTTTAATGGTGATTCTCT	0.393000													9	14					0	0	0.006214	0	0
MYL3	4634	broad.mit.edu	37	3	46904814	46904814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:46904814G>A	ENST00000395869.1	-	1	118	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	MYL3_ENST00000292327.4_Missense_Mutation_p.P23S			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	23					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGAGGTGCGGGAGCTGGAGCT	0.597000													21	58					0	0	0.001882	0	0
UROC1	131669	broad.mit.edu	37	3	126229580	126229580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:126229580G>A	ENST00000290868.2	-	2	237	c.184C>T	c.(184-186)Cca>Tca	p.P62S	UROC1_ENST00000383579.3_Missense_Mutation_p.P62S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	62					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCAAACTCTGGGGCCAGCAGC	0.607000													9	23					0	0	0.006214	0	0
FOXJ2	55810	broad.mit.edu	37	12	8201356	8201356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8201356G>A	ENST00000162391.3	+	8	2434	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R430Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	430					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ATGGTGAATCGGCTCAATTGG	0.428000													17	97					0	0	0.001523	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035215	184035215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:184035215C>T	ENST00000342981.4	+	4	668	c.254C>T	c.(253-255)tCc>tTc	p.S85F	EIF4G1_ENST00000352767.3_Missense_Mutation_p.S92F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S85F|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S45F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S85F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S92F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S45F|EIF4G1_ENST00000427845.1_5'UTR|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S92F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	85					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGCTGGATCCCAAGTAATG	0.657000													25	59					0	0	0.004656	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488527	84488527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:84488527G>A	ENST00000416219.2	+	21	2173	c.2084G>A	c.(2083-2085)gGg>gAg	p.G695E	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G695E|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	695					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGGCAGACAGGGACGGACGTC	0.562000													12	46					0	0	0.001855	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300270	99300270	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:99300270T>C	ENST00000408927.3	+	5	577	c.464T>C	c.(463-465)tTg>tCg	p.L155S	RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L156S|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L156S|RAP1GDS1_ENST00000380158.4_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	155							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAGAAGCTCTTGACTGTCTTT	0.403000			T	NUP98	T-ALL								33	26					0	0	0.007835	0	0
LRIT2	340745	broad.mit.edu	37	10	85984534	85984534	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:85984534G>A	ENST00000372113.4	-	2	452	c.447C>T	c.(445-447)ttC>ttT	p.F149F	LRIT2_ENST00000538192.1_Silent_p.F149F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	149						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGCTGACCAAGAATTGAAGAG	0.532000													41	49					0	0	0.007835	0	0
PDZD7	79955	broad.mit.edu	37	10	102789776	102789776	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:102789776G>A	ENST00000370215.3	-	2	426	c.201C>T	c.(199-201)gtC>gtT	p.V67V	PDZD7_ENST00000470414.1_Silent_p.V67V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	67						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGATGAGGATGACGCGTCCCA	0.647000													22	64					0	0	0.003330	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													27	14					0	0	0.007291	0	0
DNAH2	146754	broad.mit.edu	37	17	7644283	7644283	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7644283C>T	ENST00000572933.1	+	11	3122	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	DNAH2_ENST00000389173.2_Silent_p.L554L|DNAH2_ENST00000570791.1_Silent_p.L636L|DNAH2_ENST00000082259.3_Silent_p.L636L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	554	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCACATCCTCCGGCGTCGCA	0.612000													40	33					0	0	0.007835	0	0
SHC4	399694	broad.mit.edu	37	15	49118249	49118249	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:49118249G>A	ENST00000332408.4	-	12	2240	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	SHC4_ENST00000396535.3_Silent_p.I361I|SHC4_ENST00000537958.1_Silent_p.I318I	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	604	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAGAGGAGATGATTGGCAAAC	0.373000													48	56					0	0	0.003610	0	0
JAG2	3714	broad.mit.edu	37	14	105618331	105618331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr14:105618331G>A	ENST00000331782.3	-	7	1386	c.983C>T	c.(982-984)cCt>cTt	p.P328L	JAG2_ENST00000347004.2_Missense_Mutation_p.P328L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	328	EGF-like 3.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTACTGGTCAGGCTCGGCGTT	0.652000													10	24					0	0	0.000673	0	0
ZNF630	57232	broad.mit.edu	37	X	47918761	47918761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:47918761G>A	ENST00000276054.4	-	5	1632	c.698C>T	c.(697-699)tCc>tTc	p.S233F	ZNF630_ENST00000442455.3_Missense_Mutation_p.S343F|ZNF630_ENST00000409324.3_Missense_Mutation_p.S357F|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGACTTCTGGGAGAAAGCTTT	0.438000													16	11					0	0	0.003163	0	0
RPH3AL	9501	broad.mit.edu	37	17	63695	63695	+	Missense_Mutation	SNP	C	C	T	rs142240545		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:63695C>T	ENST00000323434.8	-	9	1406	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	RPH3AL_ENST00000331302.7_Missense_Mutation_p.R299Q|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R270Q	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	299					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		AGCGGGGGCTCGTCCAGGTGT	0.622000													8	22					0	0	0.003080	0	0
CSN2	1447	broad.mit.edu	37	4	70823296	70823296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:70823296G>A	ENST00000353151.3	-	5	382	c.371C>T	c.(370-372)cCc>cTc	p.P124L		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTCAAAAAAGGGTATCGTTGG	0.478000													18	35					0	0	0.004990	0	0
SFXN2	118980	broad.mit.edu	37	10	104486897	104486897	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104486897C>T	ENST00000369893.4	+	3	482	c.315C>T	c.(313-315)ttC>ttT	p.F105F	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	105					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCACGGGCTTCATGCTCCAGT	0.557000													14	43					0	0	0.003163	0	0
UTP14C	9724	broad.mit.edu	37	13	52604614	52604614	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52604614C>T	ENST00000521776.2	+	2	2407	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	558					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AACTGATCAACCTACAGAACT	0.502000													25	35					0	0	0.003330	0	0
LMOD3	56203	broad.mit.edu	37	3	69168514	69168514	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:69168514A>G	ENST00000420581.2	-	2	1171	c.992T>C	c.(991-993)aTg>aCg	p.M331T	LMOD3_ENST00000475434.1_Missense_Mutation_p.M331T|LMOD3_ENST00000489031.1_Missense_Mutation_p.M331T	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	331						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAGACACCTCATGATGGCCAC	0.453000													64	208					0	0	0.003610	0	0
PRB4	5545	broad.mit.edu	37	12	11461663	11461663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:11461663C>T	ENST00000279575.1	-	3	287	c.254G>A	c.(253-255)gGa>gAa	p.G85E	PRB4_ENST00000445719.2_Missense_Mutation_p.G85E|PRB4_ENST00000535904.1_Missense_Mutation_p.G85E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	85	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.612000										HNSCC(22;0.051)			37	302					0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201039492	201039492	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:201039492G>A	ENST00000362061.3	-	17	2494	c.2268C>T	c.(2266-2268)ccC>ccT	p.P756P	CACNA1S_ENST00000367338.3_Silent_p.P756P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	756					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACGTGGTCGGGGGCTCAGCG	0.582000													22	96					0	0	0.002780	0	0
ANO10	55129	broad.mit.edu	37	3	43618494	43618494	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:43618494G>A	ENST00000292246.3	-	6	1022	c.852C>T	c.(850-852)ccC>ccT	p.P284P	ANO10_ENST00000396091.3_Silent_p.P218P|ANO10_ENST00000414522.2_Silent_p.P284P|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Silent_p.P173P	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	284					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATCCTGGCCGGGGCTCCTCAA	0.532000													20	38					0	0	0.001882	0	0
DOK3	79930	broad.mit.edu	37	5	176931115	176931115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176931115G>A	ENST00000501403.2	-	6	1541	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	DOK3_ENST00000357198.4_Missense_Mutation_p.R454W|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGCAGCCGCCGGTACTGGGCC	0.682000													18	5					0	0	0.001216	0	0
SOX30	11063	broad.mit.edu	37	5	157078476	157078476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:157078476G>A	ENST00000265007.6	-	1	952	c.611C>T	c.(610-612)cCg>cTg	p.P204L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P204L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	204					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGCTGCCGGGCTTTTGCC	0.657000													27	112					0	0	0.002096	0	0
IGSF22	283284	broad.mit.edu	37	11	18735851	18735851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18735851C>T	ENST00000513874.1	-	13	1910	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	591								p.E591K(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACTTTCCGTGCCCTTG	0.562000													27	3					0	0	0.005443	0	0
PIGL	9487	broad.mit.edu	37	17	16221109	16221109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:16221109C>T	ENST00000225609.5	+	6	564	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	PIGL_ENST00000395844.3_Missense_Mutation_p.S172L|PIGL_ENST00000581006.1_Intron	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	183					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GCTCACGCTTCAGTCTGTGAA	0.537000													26	55					0	0	0.007291	0	0
STOM	2040	broad.mit.edu	37	9	124110310	124110310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:124110310G>A	ENST00000286713.2	-	6	660	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	STOM_ENST00000538954.1_Missense_Mutation_p.R164C|AL161784.1_ENST00000594963.1_Missense_Mutation_p.27_27insQ|STOM_ENST00000347359.2_Intron	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	215					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CGGGCCTCGCGGGACGCTTCT	0.423000													20	75					0	0	0.001882	0	0
SNX19	399979	broad.mit.edu	37	11	130785480	130785480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:130785480G>A	ENST00000265909.4	-	1	924	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R119C|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	119	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTCACGGAACGGTACCAAGAT	0.542000													14	6					0	0	0.002450	0	0
DSC3	1825	broad.mit.edu	37	18	28574254	28574254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:28574254G>A	ENST00000360428.4	-	16	2658	c.2578C>T	c.(2578-2580)Cca>Tca	p.P860S	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	860					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAACCAGCTGGAGATCCTCTT	0.388000													16	38					0	0	0.007413	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366040	64366040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:64366040G>A	ENST00000377574.1	+	5	1630	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	SLC22A12_ENST00000377567.2_Missense_Mutation_p.G187S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.G261S|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G74S|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G187S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	295					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCTGGATTGGGGCCTGCAGGA	0.657000													5	5					0	0	0.001168	0	0
RGS22	26166	broad.mit.edu	37	8	101076105	101076105	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:101076105C>T	ENST00000360863.6	-	8	1085	c.891G>A	c.(889-891)aaG>aaA	p.K297K	RGS22_ENST00000523287.1_Silent_p.K116K|RGS22_ENST00000523437.1_Silent_p.K285K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	297					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCCTGTTTCTTTTCAAGGT	0.358000													41	42					0	0	0.007835	0	0
PDE1C	5137	broad.mit.edu	37	7	31855735	31855735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:31855735G>A	ENST00000396184.3	-	16	1820	c.1616C>T	c.(1615-1617)gCt>gTt	p.A539V	PDE1C_ENST00000396193.1_Missense_Mutation_p.A599V|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A539V|PDE1C_ENST00000396182.2_Missense_Mutation_p.A539V|PDE1C_ENST00000396191.1_Missense_Mutation_p.A539V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	539					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGCCAGGCGAGCCTTTTCCTC	0.512000													61	123					0	0	0.003610	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025676	176025676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:176025676G>A	ENST00000303991.4	-	2	1337	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	387						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGACACAGGACGCCCCTC	0.527000													8	62					0	0	0.006214	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589383	136589383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:136589383C>T	ENST00000531224.1	-	10	2566	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E770K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E599K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E770K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E772K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E770K|BCLAF1_ENST00000031135.9_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	772					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTCTTTCCTTCTTACTC	0.388000													20	65					0	0	0.003954	0	0
LAMP5	24141	broad.mit.edu	37	20	9496670	9496670	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr20:9496670C>T	ENST00000246070.2	+	3	753	c.261C>T	c.(259-261)atC>atT	p.I87I	LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	87						integral to membrane											AGGCCGATATCGCATTGACCC	0.652000													3	3					0	0	0.000248	0	0
ZNF677	342926	broad.mit.edu	37	19	53741139	53741139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:53741139G>A	ENST00000333952.4	-	5	1006	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ZNF677_ENST00000598513.1_Missense_Mutation_p.H281Y			Q86XU0	ZN677_HUMAN	zinc finger protein 677	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H281Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATTCTCTGATGATTAGTGAGG	0.398000													24	75					0	0	0.002299	0	0
FDXR	2232	broad.mit.edu	37	17	72862330	72862330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:72862330G>A	ENST00000455107.2	-	6	714	c.298C>T	c.(298-300)Cct>Tct	p.P100S	FDXR_ENST00000581530.1_Missense_Mutation_p.P144S|FDXR_ENST00000582944.1_Missense_Mutation_p.P136S|FDXR_ENST00000293195.5_Missense_Mutation_p.P144S|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.P175S|FDXR_ENST00000420580.2_Missense_Mutation_p.P104S|FDXR_ENST00000544854.1_Missense_Mutation_p.P92S|FDXR_ENST00000583917.1_Missense_Mutation_p.P145S|FDXR_ENST00000442102.2_Missense_Mutation_p.P187S			P22570	ADRO_HUMAN	ferredoxin reductase	144					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTCACCAGGAATTTCCAGG	0.647000													28	37					0	0	0.002096	0	0
COL23A1	91522	broad.mit.edu	37	5	177675236	177675236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:177675236C>T	ENST00000390654.3	-	20	1526	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	390	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCCTTCTCCCCCTTGAGGCC	0.642000													55	19					0	0	0.003610	0	0
WRAP53	55135	broad.mit.edu	37	17	7604071	7604071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:7604071C>T	ENST00000316024.5	+	4	3003	c.655C>T	c.(655-657)Cga>Tga	p.R219*	WRAP53_ENST00000431639.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000457584.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000534050.1_Nonsense_Mutation_p.R186*			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	219					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCTGTCCTTCGAATGGTGGA	0.532000													30	101					0	0	0.002836	0	0
RLTPR	146206	broad.mit.edu	37	16	67682024	67682024	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:67682024C>T	ENST00000334583.6	+	14	1469	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	RLTPR_ENST00000545661.1_Silent_p.L381L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	381										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGACACTGCCCTGGACACTGT	0.672000													4	19					0	0	0.000602	0	0
TCF23	150921	broad.mit.edu	37	2	27373113	27373113	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:27373113G>A	ENST00000296096.5	+	2	475	c.345G>A	c.(343-345)ttG>ttA	p.L115L		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	115	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCAAGTTGGACGTGCTGG	0.706000													31	56					0	0	0.002445	0	0
RPL18A	6142	broad.mit.edu	37	19	17972995	17972995	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:17972995C>T	ENST00000600147.1	+	3	327	c.291C>T	c.(289-291)taC>taT	p.Y97Y	RPL18A_ENST00000599870.1_Silent_p.Y68Y|RPL18A_ENST00000222247.5_Silent_p.Y97Y|RPL18A_ENST00000599898.1_Silent_p.Y58Y			Q02543	RL18A_HUMAN	ribosomal protein L18a	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ACCGGGAATACCGGGACCTGA	0.612000													25	75					0	0	0.003954	0	0
NEK5	341676	broad.mit.edu	37	13	52667313	52667313	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:52667313T>C	ENST00000355568.4	-	13	1224	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	362							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AAGTTGAGCATAATAATAATC	0.378000													22	32					0	0	0.003330	0	0
LGR5	8549	broad.mit.edu	37	12	71960659	71960659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:71960659C>T	ENST00000266674.5	+	11	1348	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	LGR5_ENST00000536515.1_Missense_Mutation_p.T274I|LGR5_ENST00000540815.2_Missense_Mutation_p.T322I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	346						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTCCTCAAACCGTCTGCAAT	0.408000													141	974					0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24705212	24705212	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:24705212C>T	ENST00000396475.2	+	8	1088	c.789C>T	c.(787-789)agC>agT	p.S263S	MPP6_ENST00000222644.4_Silent_p.S263S|MPP6_ENST00000409761.1_Silent_p.S151S	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	263	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TCTAGGCTAGCCATGTAAAAG	0.408000													31	94					0	0	0.001786	0	0
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:4869969G>A	ENST00000322101.2	-	1	545	c.470C>T	c.(469-471)tCt>tTt	p.S157F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGAAAAGAAATGGCCAG	0.552000													56	15					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10467498	10467498	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:10467498C>T	ENST00000382483.3	-	4	4333	c.4110G>A	c.(4108-4110)gaG>gaA	p.E1370E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1370					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGCACCCCCTCTTCTTGCA	0.478000													75	28					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42281537	42281537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:42281537G>A	ENST00000282030.5	+	2	522	c.226G>A	c.(226-228)Gac>Aac	p.D76N	SETBP1_ENST00000426838.4_Missense_Mutation_p.D76N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	76						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCCAACGCGGACAGTGAGAA	0.547000									Schinzel-Giedion syndrome				39	34					0	0	0.001951	0	0
TBX18	9096	broad.mit.edu	37	6	85446677	85446677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:85446677G>A	ENST00000369663.5	-	8	1887	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	517					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S517F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGTATTATAGGAACCCTGATG	0.478000													37	68					0	0	0.007835	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785507	1785507	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:1785507G>A	ENST00000539485.1	-	26	3617	c.3384C>T	c.(3382-3384)gtC>gtT	p.V1128V	ATP8B3_ENST00000525591.1_Silent_p.V1081V|ATP8B3_ENST00000310127.6_Silent_p.V1118V			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1118					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCACCACGACCGCAAAGG	0.632000													19	10					0	0	0.001882	0	0
HPS5	11234	broad.mit.edu	37	11	18303642	18303642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:18303642C>T	ENST00000396253.3	-	21	3304	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.V948M|HPS5_ENST00000537258.1_Missense_Mutation_p.V169M|HPS5_ENST00000349215.3_Missense_Mutation_p.V1062M	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1062						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACATTCTCCACATTGATGGGG	0.542000									Hermansky-Pudlak syndrome				42	12					0	0	0.002222	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690488	77690488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:77690488T>A	ENST00000521891.2	+	4	3586	c.3138T>A	c.(3136-3138)taT>taA	p.Y1046*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y1020*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y1020*|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y1020*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1020						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)			AATCCTGCTATTACTACTGTG	0.493000										HNSCC(33;0.089)			52	42					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179577252	179577252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:179577252C>T	ENST00000589042.1	-	95	27621	c.27397G>A	c.(27397-27399)Ggt>Agt	p.G9133S	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8816S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7889S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8816	Ig-like 74.						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)			GTGAATGTACCCTCTAGGATC	0.388000													6	15					0	0	0.001168	0	0
NDC80	10403	broad.mit.edu	37	18	2590052	2590052	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr18:2590052C>T	ENST00000261597.4	+	10	1088	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	302	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGAAGGCTTCCTTACAAGGAG	0.323000													9	17					0	0	0.006214	0	0
ZNF99	7652	broad.mit.edu	37	19	22939917	22939917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:22939917C>T	ENST00000397104.3	-	6	2413	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCACATTCTCCACATTTGTA	0.383000													23	54					0	0	0.003954	0	0
EVPL	2125	broad.mit.edu	37	17	74015058	74015058	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:74015058C>T	ENST00000301607.3	-	11	1474	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	EVPL_ENST00000586740.1_Silent_p.Q407Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	407	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTTTCTTCGCTGTGGCAGAG	0.682000													7	15					0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36873271	36873271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:36873271C>T	ENST00000301807.6	-	21	7918	c.6021G>A	c.(6019-6021)atG>atA	p.M2007I	TRANK1_ENST00000428977.2_Missense_Mutation_p.M2007I|TRANK1_ENST00000429976.2_Missense_Mutation_p.M2557I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2557					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGGGCAGTCCATGCTCATGA	0.577000													17	47					0	0	0.007413	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806465	97806465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:97806465C>T	ENST00000358642.2	+	1	449	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTAAGTATTTCATATGTAATT	0.388000													38	120					0	0	0.007835	0	0
ZNF462	58499	broad.mit.edu	37	9	109689644	109689644	+	Missense_Mutation	SNP	C	C	T	rs149174145		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:109689644C>T	ENST00000277225.5	+	3	3740	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1151S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1151					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGACAGGCTCCTCCCACAGC	0.547000													30	41					0	0	0.001786	0	0
ABCA12	26154	broad.mit.edu	37	2	215820086	215820086	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:215820086C>T	ENST00000272895.7	-	43	6453		c.e43-1		ABCA12_ENST00000389661.4_Splice_Site|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTGCATACCTGCAGGTTAA	0.458000													4	15					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482170	37482170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:37482170G>A	ENST00000374660.1	+	33	2886	c.2787G>A	c.(2785-2787)atG>atA	p.M929I	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M810I|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M810I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	984						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGATGGACATGCAAACTTTCA	0.294000													11	38					0	0	0.001368	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790621	137790621	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:137790621G>A	ENST00000327532.2	-	12	1841	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.V493V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	493						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTCCCGCTGGACTCTCAGCA	0.517000													74	160					0	0	0.003610	0	0
MS4A6A	64231	broad.mit.edu	37	11	59947394	59947394	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:59947394G>A	ENST00000528851.1	-	3	332	c.192C>T	c.(190-192)atC>atT	p.I64I	MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000412309.2_Silent_p.I92I|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000532169.1_Silent_p.I64I|MS4A6A_ENST00000420732.2_Silent_p.I64I|MS4A6A_ENST00000323961.3_Silent_p.I64I|MS4A6A_ENST00000530839.1_Silent_p.I64I|MS4A6A_ENST00000529054.1_Silent_p.I92I|MS4A6A_ENST00000426738.2_Intron			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	64						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCCAAAATGATCCCCAAGC	0.433000													4	20					0	0	0.000602	0	0
NTRK1	4914	broad.mit.edu	37	1	156848978	156848978	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156848978C>T	ENST00000368196.3	+	14	1972	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	NTRK1_ENST00000524377.1_Silent_p.L624L|NTRK1_ENST00000392302.2_Silent_p.L588L|NTRK1_ENST00000358660.3_Silent_p.L621L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	624	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCCCCTGGGTCTGGGGCAGCT	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			24	8					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000													46	32					0	0	0.002222	0	0
ZNF445	353274	broad.mit.edu	37	3	44488420	44488420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:44488420G>A	ENST00000425708.2	-	7	3084	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	ZNF445_ENST00000396077.2_Nonsense_Mutation_p.Q915*			P59923	ZN445_HUMAN	zinc finger protein 445	915					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGTTTCCTCTGGTGACTGGAA	0.493000													42	30					0	0	0.003214	0	0
IQCH	64799	broad.mit.edu	37	15	67571772	67571772	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:67571772C>T	ENST00000335894.4	+	4	375	c.309C>T	c.(307-309)ttC>ttT	p.F103F	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.F103F	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	103										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATTTATTTTCCCTCAGGAAT	0.343000													9	48					0	0	0.000673	0	0
OR1L8	138881	broad.mit.edu	37	9	125330481	125330481	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:125330481G>A	ENST00000304865.2	-	1	357	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CATAGGAGATGGTCTTCTTTT	0.453000													26	47					0	0	0.006320	0	0
INPP4A	3631	broad.mit.edu	37	2	99155368	99155368	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:99155368C>T	ENST00000074304.5	+	9	987	c.594C>T	c.(592-594)gtC>gtT	p.V198V	INPP4A_ENST00000545415.1_Silent_p.V198V|INPP4A_ENST00000409540.3_Silent_p.V198V|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.V198V|INPP4A_ENST00000409016.3_Silent_p.V198V|INPP4A_ENST00000523221.1_Silent_p.V198V	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	198					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTCTTCCTGTCGATGAGAGCT	0.428000													5	15					0	0	0.003080	0	0
NACA	4666	broad.mit.edu	37	12	57113260	57113260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:57113260G>A	ENST00000454682.1	-	3	2335	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTGGTTTTTAGGAGCTAAAGA	0.493000			T	BCL6	NHL								13	101					0	0	0.001368	0	0
UNG	7374	broad.mit.edu	37	12	109537051	109537051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:109537051C>T	ENST00000336865.2	+	2	579	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	UNG_ENST00000242576.2_Nonsense_Mutation_p.Q133*	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	133					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ACCCCCACACCAAGTCTTCAC	0.343000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				20	17					0	0	0.001216	0	0
LHFP	10186	broad.mit.edu	37	13	40175210	40175210	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr13:40175210C>T	ENST00000379589.3	-	2	606	c.144G>A	c.(142-144)cgG>cgA	p.R48R		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	48						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ATGAGCACCTCCGGAAGGTAC	0.562000			T	HMGA2	lipoma								29	95					0	0	0.003755	0	0
RAB40C	57799	broad.mit.edu	37	16	675979	675979	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:675979C>T	ENST00000535977.1	+	6	645	c.423C>T	c.(421-423)gcC>gcT	p.A141A	RAB40C_ENST00000248139.3_Silent_p.A141A|RAB40C_ENST00000538492.1_Silent_p.A141A|RAB40C_ENST00000539661.1_Silent_p.A141A	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	141					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CGGAGCAGGCCCGCGCGTACG	0.622000													10	24					0	0	0.000673	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042758	193042758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:193042758C>T	ENST00000342358.4	-	14	1686	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	523					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAGTGGGCTCCATGGCACAG	0.522000													36	67					0	0	0.002836	0	0
ABCF1	23	broad.mit.edu	37	6	30546139	30546139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:30546139C>T	ENST00000326195.8	+	5	470	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	ABCF1_ENST00000376545.3_Missense_Mutation_p.P120S|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	120					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CGCCCCAAAACCCCGCGGAGG	0.493000													12	70					0	0	0.003163	0	0
ACE	1636	broad.mit.edu	37	17	61571337	61571337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61571337C>T	ENST00000577647.1	+	10	1514	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	ACE_ENST00000428043.1_Missense_Mutation_p.P1064L|ACE_ENST00000413513.3_Missense_Mutation_p.P490L|ACE_ENST00000290863.6_Missense_Mutation_p.P490L|ACE_ENST00000290866.4_Missense_Mutation_p.P1064L|ACE_ENST00000421982.2_Missense_Mutation_p.P310L|ACE_ENST00000490216.2_Missense_Mutation_p.P490L			P12821	ACE_HUMAN	angiotensin I converting enzyme	1064	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTTTATCCCCTTCAGCTAC	0.542000													11	61					0	0	0.001368	0	0
PAN2	9924	broad.mit.edu	37	12	56722378	56722378	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:56722378G>A	ENST00000425394.2	-	3	706	c.330C>T	c.(328-330)tcC>tcT	p.S110S	PAN2_ENST00000548043.1_Silent_p.S110S|PAN2_ENST00000440411.3_Silent_p.S110S|PAN2_ENST00000257931.5_Silent_p.S110S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	110					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACTTGAAAGGATGAGTAGC	0.507000													10	164					0	0	0.001368	0	0
CLDN4	1364	broad.mit.edu	37	7	73245539	73245539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:73245539C>T	ENST00000435050.1	+	2	2688	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CLDN4_ENST00000431918.1_Missense_Mutation_p.S3F|CLDN4_ENST00000340958.2_Missense_Mutation_p.S3F			O14493	CLD4_HUMAN	claudin 4	3					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ACAATGGCCTCCATGGGGCTA	0.657000													63	31					0	0	0.003610	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:214878736C>T	ENST00000331683.5	+	13	1557	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000													32	44					0	0	0.002836	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985652	142985652	+	Silent	SNP	T	T	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:142985652T>C	ENST00000316549.6	-	16	2038	c.1830A>G	c.(1828-1830)aaA>aaG	p.K610K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	610					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTGAAGCTTTCTGGTCCA	0.512000													46	53					0	0	0.003610	0	0
CTSE	1510	broad.mit.edu	37	1	206325396	206325396	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:206325396G>A	ENST00000361052.3	+	5	754	c.636G>A	c.(634-636)caG>caA	p.Q212Q	CTSE_ENST00000432969.2_Silent_p.Q132Q|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Silent_p.Q207Q|CTSE_ENST00000358184.2_Silent_p.Q207Q			P14091	CATE_HUMAN	cathepsin E	212					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGATGGCTCAGAACCTGGTGG	0.483000													37	18					0	0	0.006230	0	0
TANC2	26115	broad.mit.edu	37	17	61497945	61497945	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:61497945C>T	ENST00000424789.2	+	25	4606	c.4602C>T	c.(4600-4602)tcC>tcT	p.S1534S	TANC2_ENST00000389520.4_Silent_p.S1544S|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1534							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCCCTTCCCCTCTCCGGA	0.597000													8	19					0	0	0.003080	0	0
CCL21	6366	broad.mit.edu	37	9	34710039	34710039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr9:34710039G>A	ENST00000259607.2	-	1	82	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	CCL21_ENST00000378792.1_Missense_Mutation_p.L9F	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	9					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGGATAAGGAGGCTCAGAGCC	0.607000													6	4					0	0	0.001984	0	0
AHNAK	79026	broad.mit.edu	37	11	62291528	62291528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr11:62291528G>A	ENST00000378024.4	-	5	10635	c.10361C>T	c.(10360-10362)cCa>cTa	p.P3454L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3454					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTGACTTCTGGTGCCTTAAT	0.413000													19	85					0	0	0.001216	0	0
FAM179A	165186	broad.mit.edu	37	2	29222229	29222229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:29222229C>T	ENST00000379558.4	+	4	673	c.322C>T	c.(322-324)Cct>Tct	p.P108S	FAM179A_ENST00000403861.2_Missense_Mutation_p.P108S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	108							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGCTCCTCCCTTCTCCGGA	0.607000													3	13					0	0	0.004672	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553298	140553298	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:140553298C>T	ENST00000231137.3	+	1	1056	c.882C>T	c.(880-882)atC>atT	p.I294I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		294	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTTCAAATCAATCCAACAT	0.423000													15	79					0	0	0.002450	0	0
ECE1	1889	broad.mit.edu	37	1	21560127	21560127	+	Missense_Mutation	SNP	C	C	T	rs66535909		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:21560127C>T	ENST00000415912.2	-	14	1671	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	ECE1_ENST00000264205.6_Missense_Mutation_p.E529K|ECE1_ENST00000374893.6_Missense_Mutation_p.E532K|ECE1_ENST00000357071.4_Missense_Mutation_p.E520K|ECE1_ENST00000436918.2_Missense_Mutation_p.E532K	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	532					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATGGCATTTTCAAAGTAGAGG	0.527000													24	30					0	0	0.003954	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376722	8376722	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:8376722C>T	ENST00000538603.1	-	5	771	c.213G>A	c.(211-213)ccG>ccA	p.P71P	FAM90A1_ENST00000307435.6_Silent_p.P71P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	71							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCCAAAGTTCGGTGGAACCA	0.552000													10	79					0	0	0.006214	0	0
ZIC1	7545	broad.mit.edu	37	3	147131198	147131198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:147131198G>A	ENST00000282928.4	+	3	1933	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	402	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCTGGCTACGAATCCTCCAC	0.612000													43	41					0	0	0.003610	0	0
MSLN	10232	broad.mit.edu	37	16	814721	814721	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:814721C>T	ENST00000566549.1	+	6	792	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MSLN_ENST00000563941.1_Silent_p.F125F|MSLN_ENST00000382862.3_Silent_p.F125F|MSLN_ENST00000545450.2_Silent_p.F125F			Q13421	MSLN_HUMAN	mesothelin	125					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGCTGCTATTCCTCAAGTAGG	0.692000													24	71					0	0	0.003330	0	0
TMC7	79905	broad.mit.edu	37	16	19049269	19049269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:19049269C>T	ENST00000421369.3	+	8	1307	c.749C>T	c.(748-750)tCt>tTt	p.S250F	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.S360F|TMC7_ENST00000304381.5_Missense_Mutation_p.S360F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	360						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGCATTTACTCTTTGAGACTG	0.393000													18	60					0	0	0.001216	0	0
ZNF34	80778	broad.mit.edu	37	8	145999287	145999287	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:145999287G>A	ENST00000429371.2	-	6	1137	c.984C>T	c.(982-984)tcC>tcT	p.S328S	ZNF34_ENST00000343459.4_Silent_p.S349S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GATAAATCAGGGAAGAGTAGG	0.512000													11	25					0	0	0.000673	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815015	106815015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:106815015G>A	ENST00000407775.2	+	8	2955	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	ZFPM2_ENST00000517361.1_Missense_Mutation_p.R770Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R770Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R633Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAAGCGAACGAAACAGCCCT	0.458000													7	13					0	0	0.003080	0	0
MMP16	4325	broad.mit.edu	37	8	89086840	89086840	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr8:89086840G>A	ENST00000286614.6	-	7	1496	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	405	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCTTTAAAGAACACAAAAT	0.393000													18	24					0	0	0.001882	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069125	102069125	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:102069125C>T	ENST00000549145.1	+	26	2983	c.2883C>T	c.(2881-2883)gtC>gtT	p.V961V	MYBPC1_ENST00000545503.2_Silent_p.V930V|MYBPC1_ENST00000541119.1_Silent_p.V918V|MYBPC1_ENST00000536007.1_Silent_p.V911V|MYBPC1_ENST00000452455.2_Silent_p.V948V|MYBPC1_ENST00000441232.1_Silent_p.V948V|MYBPC1_ENST00000392934.3_Silent_p.V917V|MYBPC1_ENST00000361466.2_Silent_p.V955V|MYBPC1_ENST00000361685.2_Silent_p.V955V|MYBPC1_ENST00000360610.2_Silent_p.V948V|MYBPC1_ENST00000547405.1_Silent_p.V904V|MYBPC1_ENST00000553190.1_Silent_p.V930V|MYBPC1_ENST00000547509.1_Silent_p.V916V|MYBPC1_ENST00000551300.1_Silent_p.V831V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.V948V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	948	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGAAAATGTCGCTCTCACAT	0.478000													15	11					0	0	0.006122	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186534	79186534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:79186534C>T	ENST00000331268.5	+	11	1085	c.881C>T	c.(880-882)tCc>tTc	p.S294F	MORF4L1_ENST00000379535.4_Missense_Mutation_p.S280F|MORF4L1_ENST00000558502.1_Missense_Mutation_p.S167F|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000426013.2_Missense_Mutation_p.S255F|MORF4L1_ENST00000558746.1_Missense_Mutation_p.S228F|MORF4L1_ENST00000559345.1_Missense_Mutation_p.S167F	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	294	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GCACCCATGTCCCAGGTGTAT	0.393000													64	84					0	0	0.003610	0	0
TTC7A	57217	broad.mit.edu	37	2	47288087	47288087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:47288087G>A	ENST00000319190.5	+	19	2700	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	TTC7A_ENST00000394850.2_Missense_Mutation_p.G802S|TTC7A_ENST00000409245.1_Missense_Mutation_p.G744S|TTC7A_ENST00000263737.6_Missense_Mutation_p.G424S	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	778							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAACCCAGATGGCGTGCGCAT	0.627000													4	14					0	0	0.000248	0	0
DNAH1	25981	broad.mit.edu	37	3	52394378	52394378	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:52394378C>T	ENST00000420323.2	+	28	4884	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1541	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCTGAGTTCATCTATGGCT	0.567000													19	19					0	0	0.002299	0	0
ASMTL	8623	broad.mit.edu	37	X	1551204	1551204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chrX:1551204G>A	ENST00000534940.1	-	6	518	c.293C>T	c.(292-294)tCc>tTc	p.S98F	ASMTL_ENST00000381317.3_Missense_Mutation_p.S156F|ASMTL_ENST00000416733.2_Missense_Mutation_p.S80F|ASMTL_ENST00000381333.4_Missense_Mutation_p.S140F|ASMTL_ENST00000463763.1_5'UTR	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	156	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCTCCTCGGACAGCTCCGA	0.637000													14	3					0	0	0.004007	0	0
KCNA6	3742	broad.mit.edu	37	12	4920740	4920740	+	Silent	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:4920740C>T	ENST00000433855.1	+	1	2399	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	KCNA6_ENST00000280684.3_Silent_p.S511S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	511						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGAGACCCAGCTACCTTCCTA	0.612000										HNSCC(72;0.22)			29	15					0	0	0.007291	0	0
LOC442028	442028	broad.mit.edu	37	2	95601090	95601090	+	RNA	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:95601090C>T	ENST00000568768.1	-	0	157																											CTTCAAGACTCTCTTGTAAAT	0.353000													14	13					0	0	0.003163	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274311	39274311	+	Missense_Mutation	SNP	T	T	C	rs425755	by1000genomes	TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr17:39274311T>C	ENST00000391413.2	-	1	295	c.257A>G	c.(256-258)aAg>aGg	p.K86R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	86	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.K86R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCTTGCAGCAGCT	0.657000													4	46					0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54307230	54307230	+	Silent	SNP	G	G	A			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr15:54307230G>A	ENST00000545554.1	+	1	2130	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	UNC13C_ENST00000260323.11_Silent_p.E710E|UNC13C_ENST00000537900.1_Silent_p.E710E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	710					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGACTCAGAGAGCTACGACT	0.413000													17	20					0	0	0.004990	0	0
NES	10763	broad.mit.edu	37	1	156640912	156640912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr1:156640912C>T	ENST00000368223.3	-	4	3200	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1023	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCAGGCCTCTCTGCTCTTT	0.657000													186	75					0	0	0.003610	0	0
REP15	387849	broad.mit.edu	37	12	27849697	27849697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:27849697C>T	ENST00000310791.2	+	1	270	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	68						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					CACTTTCTGCCAAGAAAAGGG	0.453000													21	31					0	0	0.002299	0	0
ERLEC1	27248	broad.mit.edu	37	2	54042070	54042070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:54042070delG	ENST00000185150.4	+	13	1509	c.1378delG	c.(1378-1380)ggfs	p.G460fs	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Frame_Shift_Del_p.G434fs|ERLEC1_ENST00000378239.5_Frame_Shift_Del_p.G406fs|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	460					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATATATTCTTGGGGTAAGTTA	0.299													24	34	---	---	---	---					
DPP10	57628	broad.mit.edu	37	2	116066879	116066879	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:116066879delT	ENST00000410059.1	+	2	605	c.125delT	c.(124-126)atfs	p.I42fs	DPP10_ENST00000393147.2_Frame_Shift_Del_p.I46fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.I35fs|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	42	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGCTGGTGATTTTAGTTGTA	0.393													34	36	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241700192	241700193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr2:241700192_241700193insG	ENST00000498729.2	-	25	2579_2580	c.2333_2334insC	c.(2332-2334)cgafs	p.R778fs	KIF1A_ENST00000320389.7_Frame_Shift_Ins_p.R769fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	769					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGCGGCCTCTGGGGGCAGCAG	0.634													4	9	---	---	---	---					
DHX30	22907	broad.mit.edu	37	3	47884677	47884677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:47884677delG	ENST00000446256.2	+	10	1326	c.754delG	c.(754-756)ttfs	p.V252fs	DHX30_ENST00000457607.1_Frame_Shift_Del_p.V319fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.V263fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.V291fs	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	291						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGACCTTTGTTGCCAAAGG	0.562													25	58	---	---	---	---					
ABHD6	57406	broad.mit.edu	37	3	58256707	58256707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr3:58256707delA	ENST00000478253.1	+	6	940	c.439delA	c.(439-441)ccfs	p.T147fs	ABHD6_ENST00000295962.4_Frame_Shift_Del_p.T147fs			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	147						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCTGGTAGGCACCTCCATGGG	0.502													34	37	---	---	---	---					
GPR125	166647	broad.mit.edu	37	4	22389418	22389418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:22389418delA	ENST00000334304.5	-	19	4145	c.3876delT	c.(3874-3876)atfs	p.I1292fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1292					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CATTGCTTTTAATTGGTCCAT	0.448													30	29	---	---	---	---					
RNF175	285533	broad.mit.edu	37	4	154649461	154649461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr4:154649461delA	ENST00000347063.4	-	4	671	c.299delT	c.(298-300)tafs	p.L100fs	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	100						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGTATAATTTTATCGT	0.458													64	60	---	---	---	---					
ERAP2	64167	broad.mit.edu	37	5	96225054	96225055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:96225054_96225055insC	ENST00000510309.1	+	4	1137_1138	c.1015_1016insC	c.(1015-1017)ttgfs	p.L339fs	ERAP2_ENST00000379904.4_Intron|ERAP2_ENST00000437043.3_Intron|CTD-2260A17.2_ENST00000501338.1_Intron			Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	0					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGCTCATAAAACTTGCTTTGAT	0.332													18	77	---	---	---	---					
PGGT1B	5229	broad.mit.edu	37	5	114548115	114548125	+	Frame_Shift_Del	DEL	ACATTCTCTGA	ACATTCTCTGA	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr5:114548115_114548125delACATTCTCTGA	ENST00000419445.1	-	9	1128_1138	c.1108_1118delTCAGAGAATGT	c.(1108-1119)afs	p.SENV370fs	PGGT1B_ENST00000379615.3_Frame_Shift_Del_p.SENV293fs	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	370					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GGAGATATGTACATTCTCTGAGCATTGTTTA	0.412													33	86	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													7	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)agg>ag	p.RL10del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	10					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
GBF1	8729	broad.mit.edu	37	10	104126880	104126881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr10:104126880_104126881insT	ENST00000369983.3	+	20	2729_2730	c.2469_2470insT	c.(2467-2472)tgtttcfs	p.CF823fs		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	823	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S825fs*25(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCGATGCCTGCTTTTCCCTGGC	0.485													76	63	---	---	---	---					
EIF2S3L	0	broad.mit.edu	37	12	10658943	10658943	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:10658943delG	ENST00000322446.3	+	1	743	c.442delG	c.(442-444)gtfs	p.G148fs	EIF2S3L_ENST00000538173.1_Frame_Shift_Del_p.G148fs																lung(8)	8						TATGCTGAACGGTGCAGCAGT	0.458													45	25	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40668769	40668769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:40668769delA	ENST00000298910.7	+	16	1973	c.1915delA	c.(1915-1917)agfs	p.K639fs	LRRK2_ENST00000343742.2_Frame_Shift_Del_p.K639fs	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	639					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACCGATTTAAGGATGTTGC	0.368													15	40	---	---	---	---					
OTOGL	283310	broad.mit.edu	37	12	80747264	80747264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr12:80747264delC	ENST00000458043.2	+	45	5546	c.5540delC	c.(5539-5541)gcfs	p.A1847fs	OTOGL_ENST00000547103.1_Frame_Shift_Del_p.A1835fs	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCACATTCAGCCCAGTGCATT	0.408													7	5	---	---	---	---					
ITGAX	3687	broad.mit.edu	37	16	31388365	31388365	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr16:31388365delG	ENST00000268296.4	+	22	2791	c.2670delG	c.(2668-2670)ctfs	p.L890fs	ITGAX_ENST00000562522.1_Frame_Shift_Del_p.L890fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	890					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGCTGTCCTGGGAGACCGGC	0.602													24	64	---	---	---	---					
STXBP2	6813	broad.mit.edu	37	19	7705879	7705879	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:7705879delA	ENST00000441779.2	+	6	489	c.452delA	c.(451-453)tcfs	p.Y151fs	STXBP2_ENST00000221283.5_Frame_Shift_Del_p.Y140fs|STXBP2_ENST00000414284.2_Frame_Shift_Del_p.Y137fs|CTD-3214H19.4_ENST00000595866.1_3'UTR	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	140					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCTCCCCTACGAGGCCCAG	0.627													17	52	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9362720	9362721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:9362720_9362721insT	ENST00000456448.1	+	1	1115_1116	c.1001_1002insT	c.(1000-1002)cttfs	p.L334fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCTCCATCCTTTTTGTTATA	0.441													23	15	---	---	---	---					
EPS8L1	54869	broad.mit.edu	37	19	55597515	55597515	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr19:55597515delC	ENST00000201647.6	+	16	1661	c.1605delC	c.(1603-1605)tafs	p.Y535fs	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.Y408fs|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.Y221fs|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.Y471fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	535	Pro-rich.|SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACACCCTACCCCGGACCCC	0.632													12	92	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-EE-A2MS-06A-11D-A197-08	TCGA-EE-A2MS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b733112-76b6-455c-b41e-345acccb10de	3ee595d3-1187-4455-9715-b86e0e8e71a2	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													3	4	---	---	---	---					
