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
KRT18P55	284085	broad.mit.edu	37	17	26604229	26604229	+	RNA	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:26604229C>A	ENST00000577198.1	-	0	732					NR_028334.1																						ACATGGAGATCCGGGAACCAG	0.632000													22	52					2.89027e-11	3.72068e-11	0.014323	1	0
FGD3	89846	broad.mit.edu	37	9	95797636	95797636	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:95797636G>T	ENST00000375482.3	+	18	2439	c.1943G>T	c.(1942-1944)cGc>cTc	p.R648L	FGD3_ENST00000416701.2_Missense_Mutation_p.R647L|FGD3_ENST00000538555.1_Missense_Mutation_p.R251L|FGD3_ENST00000337352.6_Missense_Mutation_p.R648L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	648	PH 2.				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	p.R648L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGCTGCCCCGCACCATCCCT	0.682000													8	18					5.18039e-06	5.82161e-06	0.003080	1	0
TLR4	7099	broad.mit.edu	37	9	120475067	120475067	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:120475067G>A	ENST00000355622.6	+	3	762	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G181S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	221					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	p.G221S(1)		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						TATCCAACCAGGTGCATTTAA	0.358000													26	118					0	0	0.021523	0	0
EFCAB14	9813	broad.mit.edu	37	1	47150235	47150235	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:47150235C>T	ENST00000371933.3	-	9	2090	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14_ENST00000544071.1_Missense_Mutation_p.E308K	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14									p.E372K(1)									TGGAGTTTCTCTCTTAGCTTG	0.428000													4	159					0	0	0.014758	0	0
FBXL7	23194	broad.mit.edu	37	5	15928571	15928571	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:15928571G>C	ENST00000504595.1	+	3	1181	c.700G>C	c.(700-702)Gtg>Ctg	p.V234L	FBXL7_ENST00000510662.1_Missense_Mutation_p.V187L|FBXL7_ENST00000329673.7_Missense_Mutation_p.V222L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	234					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.V234L(1)		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						CTTTGATGTGGTGTCCCTCTG	0.562000													17	93					0	0	0.006122	0	0
WTAP	9589	broad.mit.edu	37	6	160176455	160176455	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:160176455G>T	ENST00000358372.4	+	8	2760	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	335					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.G335W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACTCAGTGCGGGGTATGAAAG	0.483000													37	76					9.45814e-24	1.51068e-23	0.021022	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181682	128181682	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:128181682G>T	ENST00000469083.1	-	2	2964	c.407C>A	c.(406-408)gCa>gAa	p.A136E	DNAJB8_ENST00000319153.3_Missense_Mutation_p.A136E			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	136					protein folding		heat shock protein binding|unfolded protein binding	p.A136E(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCAAAGCCTGCCGAGAAGGC	0.592000													17	27					1.33834e-09	1.63733e-09	0.007413	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281044	49281044	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr13:49281044T>A	ENST00000282018.3	+	1	94	c.91T>A	c.(91-93)Tgc>Agc	p.C31S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	31					immune response	integral to membrane|plasma membrane		p.C31S(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAGCAGGAACTGCACAATTGA	0.383000													62	131					0	0	0.014410	0	0
PCNT	5116	broad.mit.edu	37	21	47836156	47836156	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr21:47836156C>T	ENST00000359568.5	+	30	6431	c.6324C>T	c.(6322-6324)agC>agT	p.S2108S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2108					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.S2108I(1)		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)					TGTTGGAGAGCAGCTGGAGTG	0.507000													22	55					0	0	0.021523	0	0
RND3	390	broad.mit.edu	37	2	151328209	151328209	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:151328209G>T	ENST00000375734.2	-	4	664	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RND3_ENST00000409557.1_Missense_Mutation_p.L10M|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.L139M	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	139					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.L139M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TCTGTCCGCAGATCAGACTTG	0.403000													25	143					9.04412e-07	1.02639e-06	0.024334	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146818081	146818081	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:146818081G>C	ENST00000361727.3	+	6	1281	c.765G>C	c.(763-765)caG>caC	p.Q255H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	255	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q255H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAGCAACCAGCTTGGCCCCA	0.493000										HNSCC(39;0.1)			24	45					0	0	0.008361	0	0
DDX4	54514	broad.mit.edu	37	5	55059013	55059013	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:55059013G>T	ENST00000505374.1	+	5	308	c.216G>T	c.(214-216)gaG>gaT	p.E72D	DDX4_ENST00000353507.5_Missense_Mutation_p.E72D|DDX4_ENST00000354991.5_Missense_Mutation_p.E72D|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Missense_Mutation_p.E72D|SLC38A9_ENST00000504880.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	72	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E72D(1)		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)				ATGCTGGTGAGTGTAATAAGC	0.328000													17	85					3.32936e-07	3.80341e-07	0.006122	1	0
SULT4A1	25830	broad.mit.edu	37	22	44221895	44221895	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr22:44221895C>T	ENST00000330884.4	-	7	961	c.841G>A	c.(841-843)Gac>Aac	p.D281N	SULT4A1_ENST00000540422.1_Missense_Mutation_p.D168N	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	281					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AAATAAAAGTCAAACGTGAGG	0.413000													61	148					0	0	0.014410	0	0
EPHA6	285220	broad.mit.edu	37	3	96533570	96533570	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:96533570T>A	ENST00000389672.5	+	1	141	c.103T>A	c.(103-105)Tgc>Agc	p.C35S	EPHA6_ENST00000470610.2_Missense_Mutation_p.C35S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C35S(1)		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						TGGACCCTCGTGCCCTGTTCC	0.716000													3	17					0	0	0.004672	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520848	175520848	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:175520848G>T	ENST00000454872.1	+	14	2373	c.2245G>T	c.(2245-2247)Gct>Tct	p.A749S		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	749					proteolysis	integral to membrane	peptidase activity	p.A749S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACTTATAGAGGCTTGGGAACA	0.398000													12	41					2.61681e-11	3.38128e-11	0.020292	1	0
IL16	3603	broad.mit.edu	37	15	81517840	81517840	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:81517840G>C	ENST00000394660.2	+	2	460	c.100G>C	c.(100-102)Ggc>Cgc	p.G34R	IL16_ENST00000302987.4_Missense_Mutation_p.G34R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	34					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.G34R(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGTGATGATGGCTCTAGCCC	0.507000													23	64					0	0	0.016522	0	0
FAT3	120114	broad.mit.edu	37	11	92531675	92531675	+	Silent	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:92531675A>T	ENST00000298047.6	+	9	5513	c.5496A>T	c.(5494-5496)gcA>gcT	p.A1832A	FAT3_ENST00000409404.2_Silent_p.A1832A|FAT3_ENST00000525166.1_Silent_p.A1682A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1832	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1832A(2)		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)				GTACAGGTGCAATCAGAACAA	0.483000										TCGA Ovarian(4;0.039)			9	29					0	0	0.010729	0	0
ADCY1	107	broad.mit.edu	37	7	45743342	45743342	+	Silent	SNP	C	C	T	rs147203781		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:45743342C>T	ENST00000297323.7	+	16	2737	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	905					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.D905D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCGACTTTGACGAGGTGAGGC	0.562000													33	61					0	0	0.019004	0	0
OBSCN	84033	broad.mit.edu	37	1	228482069	228482069	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:228482069C>T	ENST00000570156.2	+	47	12709	c.12635C>T	c.(12634-12636)tCg>tTg	p.S4212L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S902L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S3783L|OBSCN_ENST00000422127.1_Missense_Mutation_p.S3783L|OBSCN_ENST00000359599.6_Missense_Mutation_p.S2630L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S902L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3255	Ig-like 43.				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	p.S3783L(1)|p.S4066L(1)|p.S3967L(1)|p.S3837L(1)		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)				GGGGAGTACTCGTGTGTGTGC	0.602000													40	162					0	0	0.008740	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451272	25451272	+	RNA	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:25451272G>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGGGCCAGTGTGCGTCAGCC	0.632000													14	28					9.31168e-06	1.03965e-05	0.016723	1	0
ALLC	55821	broad.mit.edu	37	2	3743913	3743913	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:3743913G>T	ENST00000252505.3	+	9	878	c.716G>T	c.(715-717)aGg>aTg	p.R239M	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	258							allantoicase activity	p.R239M(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACTGCAAGAAGGCTGGACCGG	0.348000										HNSCC(21;0.051)			13	15					1.5842e-08	1.87174e-08	0.016723	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776737	77776737	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:77776737C>T	ENST00000521891.2	+	11	11235	c.10787C>T	c.(10786-10788)gCt>gTt	p.A3596V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3551V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3547V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3570V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3547						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A3580V(1)		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)			GAAGTGAAGGCTAAGCCTGCT	0.428000										HNSCC(33;0.089)			14	38					0	0	0.028581	0	0
TTF1	7270	broad.mit.edu	37	9	135278199	135278199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:135278199C>A	ENST00000334270.2	-	2	49	c.10G>T	c.(10-12)Gaa>Taa	p.E4*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	4	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.E4*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTGCTTGATTCTCCTTCCATT	0.378000													11	84					0.00316338	0.00333751	0.024245	1	0
PCDH17	27253	broad.mit.edu	37	13	58298880	58298880	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr13:58298880G>T	ENST00000377918.3	+	4	2958	c.2932G>T	c.(2932-2934)Gtt>Ttt	p.V978F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	978					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V978F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGTACCTACAGTTGAAGCTAA	0.448000													33	102					1.99505e-19	3.03213e-19	0.012213	1	0
ZNF521	25925	broad.mit.edu	37	18	22804736	22804736	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:22804736C>T	ENST00000361524.3	-	4	3294	c.3146G>A	c.(3145-3147)gGg>gAg	p.G1049E	ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049E|ZNF521_ENST00000584787.1_Missense_Mutation_p.G829E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.G1049E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTGCAGACCCATTCCCTGT	0.522000			T	PAX5	ALL								13	67					0	0	0.020292	0	0
TRIM45	80263	broad.mit.edu	37	1	117660813	117660813	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:117660813C>T	ENST00000256649.4	-	2	1591	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	TRIM45_ENST00000369464.3_Silent_p.R355R|TRIM45_ENST00000369461.3_Silent_p.R298R	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	355						cytoplasm|nucleus	zinc ion binding	p.R355R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGTTCAGCTTCCTGAGCCGTT	0.517000													60	77					0	0	0.014410	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880394	22880394	+	Silent	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:22880394A>G	ENST00000276431.4	-	9	1397	c.1113T>C	c.(1111-1113)gcT>gcC	p.A371A	TNFRSF10B_ENST00000347739.3_Silent_p.A342A|TNFRSF10B_ENST00000542226.1_Silent_p.A191A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	371	Death.				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	p.A371A(1)		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)		CCTCAGCTTTAGCCACCTTTA	0.547000													3	137					0	0	0.004672	0	0
LAMB1	3912	broad.mit.edu	37	7	107605017	107605017	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:107605017C>G	ENST00000393561.1	-	12	1934	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	LAMB1_ENST00000222399.6_Missense_Mutation_p.E560Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.E560Q			P07942	LAMB1_HUMAN	laminin, beta 1	560	Laminin IV type B.				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	p.E560Q(1)|p.E560K(1)		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)	TTGGCTTCCTCCGCTTCATAG	0.532000													68	92					0	0	0.014410	0	0
PGM5	5239	broad.mit.edu	37	9	71114208	71114208	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:71114208G>A	ENST00000396396.1	+	10	1774	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	515					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.V515V(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCAGTGGTGTGCGGGCCACCC	0.577000													67	97					0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207696984	207696984	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:207696984C>T	ENST00000367049.4	+	5	516	c.516C>T	c.(514-516)atC>atT	p.I172I	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.I172I|CR1_ENST00000400960.2_Silent_p.I172I|CR1_ENST00000367051.1_Intron|CR1_ENST00000367053.1_Silent_p.I172I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	172	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			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						CCCCCACCATCACCAATGGAG	0.438000													24	109					0	0	0.016522	0	0
AGMO	392636	broad.mit.edu	37	7	15601460	15601460	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:15601460G>T	ENST00000342526.3	-	1	180	c.11C>A	c.(10-12)cCa>cAa	p.P4Q		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	4					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.P4Q(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTGGGCTTCTGGGTTCTTCAT	0.458000													33	59					6.90743e-12	9.13051e-12	0.017118	1	0
TMEM5	10329	broad.mit.edu	37	12	64202608	64202608	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:64202608G>A	ENST00000537373.1	+	6	1236	c.288G>A	c.(286-288)gtG>gtA	p.V96V	TMEM5_ENST00000261234.6_Silent_p.V356V	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	356						integral to plasma membrane		p.V356V(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGAAGACGTGATGACAGCTG	0.493000													44	60					0	0	0.011902	0	0
LARP1	23367	broad.mit.edu	37	5	154183157	154183157	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:154183157C>A	ENST00000336314.4	+	13	2084	c.2060C>A	c.(2059-2061)gCc>gAc	p.A687D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	764							protein binding|RNA binding	p.A764D(1)|p.A687D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCACCATCGCCCGCTCTCTA	0.592000													11	51					0.00136819	0.00146138	0.013537	1	0
WDR88	126248	broad.mit.edu	37	19	33639782	33639782	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:33639782C>T	ENST00000361680.2	+	5	723	c.645C>T	c.(643-645)gaC>gaT	p.D215D	WDR88_ENST00000355868.3_Silent_p.D215D			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	215								p.D215D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCATAATGGACGCCGAGAACA	0.498000													51	61					0	0	0.014410	0	0
SFXN2	118980	broad.mit.edu	37	10	104489099	104489099	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:104489099C>G	ENST00000369893.4	+	5	622	c.455C>G	c.(454-456)aCa>aGa	p.T152R		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	152				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 2).	iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	p.T152R(1)		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)		TCCTACTTCACAGCCACAACC	0.632000											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	0.021523	0	0
GABRB3	2562	broad.mit.edu	37	15	26793116	26793116	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:26793116G>T	ENST00000541819.2	-	10	1516	c.1414C>A	c.(1414-1416)Ctg>Atg	p.L472M	GABRB3_ENST00000545868.1_Missense_Mutation_p.L331M|GABRB3_ENST00000400188.3_Missense_Mutation_p.L345M|GABRB3_ENST00000311550.5_Missense_Mutation_p.L416M|GABRB3_ENST00000299267.4_Missense_Mutation_p.L416M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	416					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.L416M(2)|p.L472M(1)		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)	CTGTCCCCCAGGAATCGCCCA	0.498000													24	82					4.72057e-08	5.53945e-08	0.021523	1	0
MKI67	4288	broad.mit.edu	37	10	129905763	129905763	+	Silent	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:129905763A>G	ENST00000368654.3	-	13	4716	c.4341T>C	c.(4339-4341)agT>agC	p.S1447S	MKI67_ENST00000368653.3_Silent_p.S1087S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1447	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.S1447S(1)		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)				TACCAGTTACACTTGCTGCTG	0.493000													95	260					0	0	0.014410	0	0
MARCH10	162333	broad.mit.edu	37	17	60802397	60802397	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:60802397G>T	ENST00000544856.2	-	8	2381	c.2003C>A	c.(2002-2004)cCa>cAa	p.P668Q	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.P707Q|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.P669Q|MARCH10_ENST00000311269.5_Missense_Mutation_p.P669Q|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	669							ligase activity|zinc ion binding	p.P669Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTTGCTTGGGGAACCCCC	0.537000													15	105					1.99824e-07	2.30566e-07	0.004990	1	0
HOXB3	3213	broad.mit.edu	37	17	46627830	46627830	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:46627830C>T	ENST00000470495.1	-	2	2609	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.G388R|HOXB3_ENST00000489475.1_Missense_Mutation_p.G315R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.G315R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G388R|HOXB3_ENST00000490677.1_Missense_Mutation_p.G254R|HOXB3_ENST00000311626.4_Missense_Mutation_p.G388R|HOXB3_ENST00000460160.1_Missense_Mutation_p.G256R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G256R			P14651	HXB3_HUMAN	homeobox B3	388					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G388R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGGGCGCCCCGTTGTAGTCC	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	103					0	0	0.010504	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182490	140182490	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:140182490G>A	ENST00000522353.2	+	1	1708	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V570M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.V570M(2)		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)			GATGCCTCGGGTGGGTGGCAT	0.687000													22	95					0	0	0.012319	0	0
IGDCC4	57722	broad.mit.edu	37	15	65702515	65702515	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:65702515C>A	ENST00000352385.2	-	3	773		c.e3+1			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral to membrane|plasma membrane		p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGCACTCACCGAGGCTCCT	0.577000													29	40					1.30988e-24	2.13164e-24	0.010818	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858739	149858739	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:149858739G>T	ENST00000331380.2	+	1	215	c.215G>T	c.(214-216)cGg>cTg	p.R72L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	72					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R72L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AACGCGGCTCGGGACAACAAG	0.662000													4	112					0.00909568	0.00948039	0.009096	1	0
KIAA1210	57481	broad.mit.edu	37	X	118222823	118222823	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:118222823C>A	ENST00000402510.2	-	11	2369	c.2370G>T	c.(2368-2370)ggG>ggT	p.G790G		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	790								p.G790G(1)|p.G614G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGAACCATCCCCCTCCTCAG	0.458000													14	19					2.35188e-11	3.05037e-11	0.006122	1	0
GPLD1	2822	broad.mit.edu	37	6	24467399	24467399	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:24467399C>T	ENST00000230036.1	-	8	759	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	217						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.E217K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCTTACATTTCTAAGAACTGG	0.368000													8	87					0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10440622	10440622	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:10440622C>A	ENST00000245503.5	-	16	2209	c.1825G>T	c.(1825-1827)Gtt>Ttt	p.V609F	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V609F|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.V609F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	609	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	p.V609F(1)		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						TACAGTCCAACCACGGTCTCA	0.493000													87	150					2.13026e-44	3.78835e-44	0.014410	1	0
NID2	22795	broad.mit.edu	37	14	52505531	52505531	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:52505531C>A	ENST00000216286.5	-	9	2190	c.2191G>T	c.(2191-2193)Gcc>Tcc	p.A731S	NID2_ENST00000541773.1_Missense_Mutation_p.A678S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	731	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.A731S(1)		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)					TTATACAAGGCAAAGACCCGG	0.507000													24	93					1.55811e-20	2.41053e-20	0.008361	1	0
USH2A	7399	broad.mit.edu	37	1	216595449	216595449	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:216595449T>A	ENST00000366943.2	-	2	616	c.230A>T	c.(229-231)cAg>cTg	p.Q77L	USH2A_ENST00000307340.3_Missense_Mutation_p.Q77L|USH2A_ENST00000366942.3_Missense_Mutation_p.Q77L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	77					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q77L(1)		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)		GGTACAGAACTGAATACTTTC	0.493000										HNSCC(13;0.011)			20	74					0	0	0.010504	0	0
OR51B2	79345	broad.mit.edu	37	11	5345219	5345219	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:5345219G>C	ENST00000328813.2	-	1	363	c.309C>G	c.(307-309)caC>caG	p.H103Q	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H103Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAAGGGAGTGAATAAAGT	0.463000													40	66					0	0	0.025465	0	0
TTN	7273	broad.mit.edu	37	2	179404270	179404270	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:179404270G>T	ENST00000589042.1	-	352	98746	c.98522C>A	c.(98521-98523)gCc>gAc	p.A32841D	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23901D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A31200D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30273D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A23968D|TTN_ENST00000460472.2_Missense_Mutation_p.A23776D|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31200							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A23901D(1)|p.A30271D(1)|p.A23776D(1)|p.A23968D(1)|p.A30273D(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)			ATACCAGGCGGCTTTAGGCAC	0.498000													65	147					2.72187e-29	4.64873e-29	0.014410	1	0
EPHA5	2044	broad.mit.edu	37	4	66467674	66467674	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:66467674C>A	ENST00000273854.3	-	3	1195	c.595G>T	c.(595-597)Gtc>Ttc	p.V199F	EPHA5_ENST00000511294.1_Missense_Mutation_p.V199F|EPHA5_ENST00000354839.4_Missense_Mutation_p.V199F|EPHA5_ENST00000432638.2_Missense_Mutation_p.V199F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	199					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V199F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACATCTCTGACCTCTGTATTC	0.383000										TSP Lung(17;0.13)			26	113					9.04412e-07	1.02639e-06	0.024334	1	0
PROKR1	10887	broad.mit.edu	37	2	68882018	68882018	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:68882018G>T	ENST00000303786.3	+	3	912	c.492G>T	c.(490-492)ctG>ctT	p.L164L	PROKR1_ENST00000394342.2_Silent_p.L164L			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	164						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.L164L(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGGTATCTGGCTATTGTCC	0.493000													17	83					1.02788e-11	1.34326e-11	0.004990	1	0
OC90	729330	broad.mit.edu	37	8	133045310	133045310	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:133045310C>G	ENST00000262283.5	-	15	1570	c.1471G>C	c.(1471-1473)Gat>Cat	p.D491H	OC90_ENST00000254627.3_Missense_Mutation_p.D279H|OC90_ENST00000603859.1_Missense_Mutation_p.D279H|OC90_ENST00000443356.2_Missense_Mutation_p.D295H			Q02509	OC90_HUMAN	otoconin 90	295					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.D253H(1)|p.D491H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCCTCAGGATCATTTTCAACA	0.493000													7	15					0	0	0.003080	0	0
PCDH7	5099	broad.mit.edu	37	4	30726120	30726120	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:30726120C>A	ENST00000361762.2	+	1	4084	c.3076C>A	c.(3076-3078)Cca>Aca	p.P1026T	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1026T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1026					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P979T(1)|p.P1026T(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGATCTACCACCAGCCAACAC	0.463000													15	72					1.33834e-09	1.63733e-09	0.007413	1	0
GNAZ	2781	broad.mit.edu	37	22	23438217	23438217	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr22:23438217G>T	ENST00000248996.4	+	2	1001	c.335G>T	c.(334-336)gGc>gTc	p.G112V	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	112						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.G112V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCGCTGACGGGCCCCGCTGAG	0.692000													48	66					3.85841e-42	6.72299e-42	0.014410	1	0
GPX5	2880	broad.mit.edu	37	6	28501750	28501750	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:28501750C>A	ENST00000412168.2	+	5	561	c.472C>A	c.(472-474)Cat>Aat	p.H158N	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	158					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.H158N(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CTCCTGTCCTCATCCCTCTGA	0.463000													75	361					2.08937e-45	3.75434e-45	0.014410	1	0
DHX8	1659	broad.mit.edu	37	17	41601039	41601039	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:41601039C>T	ENST00000262415.3	+	23	3559	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1163						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.R1163C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAATACATGCGTGAAGTTAC	0.527000													45	75					0	0	0.014410	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:105538144G>A	ENST00000332180.5	+	21	2177	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	697					endosome transport	WASH complex		p.R697L(2)|p.R697Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTGGATGACCGAAACCCTTTC	0.373000													69	116					0	0	0.014410	0	0
UNC5C	8633	broad.mit.edu	37	4	96123907	96123907	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:96123907A>G	ENST00000453304.1	-	12	2459	c.2111T>C	c.(2110-2112)cTg>cCg	p.L704P		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	704	Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.L704P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGTGTCATCCAGACAGTAGAC	0.597000													26	28					0	0	0.007291	0	0
NRCAM	4897	broad.mit.edu	37	7	107800925	107800925	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:107800925C>A	ENST00000379028.3	-	31	3949	c.3479G>T	c.(3478-3480)cGg>cTg	p.R1160L	NRCAM_ENST00000425651.2_Missense_Mutation_p.R1160L|NRCAM_ENST00000351718.4_Missense_Mutation_p.R1039L|NRCAM_ENST00000413765.2_Missense_Mutation_p.R1036L|NRCAM_ENST00000379022.4_Missense_Mutation_p.R1160L|NRCAM_ENST00000379024.4_Missense_Mutation_p.R1048L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1160					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	p.R1039L(1)|p.R1160L(1)		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						ATCCACCTGCCGGCTTGCCAT	0.453000													16	35					1.55795e-14	2.17608e-14	0.012319	1	0
SETBP1	26040	broad.mit.edu	37	18	42618602	42618602	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:42618602G>T	ENST00000282030.5	+	5	4449	c.4153G>T	c.(4153-4155)Gca>Tca	p.A1385S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1385						nucleus	DNA binding	p.A1385S(1)|p.A1331S(1)		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)		TGCTGCATCTGCAGCAACGTC	0.522000									Schinzel-Giedion syndrome				26	43					1.08312e-15	1.54412e-15	0.009535	1	0
ST18	9705	broad.mit.edu	37	8	53079524	53079524	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:53079524C>T	ENST00000276480.7	-	11	1775	c.1092G>A	c.(1090-1092)agG>agA	p.R364R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R364R(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)				ACTTGGTCTCCCTCTTTTCAG	0.527000													58	126					0	0	0.014410	0	0
CPA1	1357	broad.mit.edu	37	7	130025024	130025024	+	Nonsense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:130025024C>G	ENST00000011292.3	+	8	975	c.825C>G	c.(823-825)taC>taG	p.Y275*	CPA1_ENST00000484324.1_Nonsense_Mutation_p.Y187*	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	275					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Y275*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CGGAGACTTACCACGGCAAGT	0.557000													19	42					0	0	0.018920	0	0
PCNT	5116	broad.mit.edu	37	21	47836155	47836155	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr21:47836155G>T	ENST00000359568.5	+	30	6430	c.6323G>T	c.(6322-6324)aGc>aTc	p.S2108I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2108					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.S2108I(1)		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)					CTGTTGGAGAGCAGCTGGAGT	0.512000													22	55					3.28513e-13	4.47972e-13	0.021523	1	0
SPRR2G	6706	broad.mit.edu	37	1	153122400	153122400	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:153122400G>T	ENST00000368748.4	-	2	225	c.187C>A	c.(187-189)Ccc>Acc	p.P63T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	63					keratinization	cornified envelope|cytoplasm		p.P63T(1)		endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGCAGGGTGGGTATGGT	0.532000													39	79					1.83081e-24	2.96539e-24	0.014410	1	0
FOXP2	93986	broad.mit.edu	37	7	114271723	114271723	+	Silent	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:114271723T>A	ENST00000393500.3	+	12	1333	c.513T>A	c.(511-513)ccT>ccA	p.P171P	FOXP2_ENST00000393489.3_Silent_p.P154P|FOXP2_ENST00000360232.4_Silent_p.P246P|FOXP2_ENST00000378237.3_Silent_p.P246P|FOXP2_ENST00000403559.4_Silent_p.P263P|FOXP2_ENST00000393494.2_Silent_p.P246P|FOXP2_ENST00000393491.3_Silent_p.P154P|FOXP2_ENST00000393498.2_Silent_p.P225P|FOXP2_ENST00000390668.3_Silent_p.P270P|FOXP2_ENST00000350908.4_Silent_p.P246P|FOXP2_ENST00000408937.3_Silent_p.P271P			O15409	FOXP2_HUMAN	forkhead box P2	246	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.P271P(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCATTCCACCTGGCCAGGCAG	0.502000													27	39					0	0	0.010818	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786413	128786413	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:128786413C>A	ENST00000529694.1	+	3	1423	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	KCNJ5_ENST00000338350.4_Missense_Mutation_p.N349K|KCNJ5_ENST00000533599.1_Missense_Mutation_p.N349K	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	349					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.N349K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGACTACAACACCTTCCATG	0.572000													90	146					4.25105e-50	7.75985e-50	0.014410	1	0
STRN	6801	broad.mit.edu	37	2	37121062	37121062	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:37121062C>A	ENST00000263918.4	-	7	918	c.910G>T	c.(910-912)Gca>Tca	p.A304S	STRN_ENST00000379213.2_Missense_Mutation_p.A292S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	304					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.A304S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CCATCGCCTGCACTTCTAGAT	0.413000													86	221					3.10062e-51	5.68997e-51	0.014410	1	0
HAUS6	54801	broad.mit.edu	37	9	19082957	19082957	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:19082957C>A	ENST00000380502.3	-	8	1251	c.784G>T	c.(784-786)Gtt>Ttt	p.V262F	HAUS6_ENST00000380496.1_Missense_Mutation_p.V126F	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	262					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.V262F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TATTGGTTAACAAGACTAAGG	0.358000													8	72					0.000157383	0.000169679	0.003080	1	0
PHF20L1	51105	broad.mit.edu	37	8	133858080	133858080	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:133858080C>T	ENST00000395386.2	+	21	3265	c.2966C>T	c.(2965-2967)gCa>gTa	p.A989V	PHF20L1_ENST00000220847.7_Missense_Mutation_p.A376V|PHF20L1_ENST00000395390.2_Missense_Mutation_p.A964V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	989							nucleic acid binding|zinc ion binding	p.A989V(1)|p.A963V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATCCTCTTGCAAGATTGCCC	0.423000													25	87					0	0	0.008361	0	0
SNX9	51429	broad.mit.edu	37	6	158363843	158363843	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:158363843G>T	ENST00000392185.3	+	18	1932	c.1761G>T	c.(1759-1761)caG>caT	p.Q587H		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	587	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.Q587H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGCTGAGGCAGGCCCTCAGCC	0.453000													15	62					9.16793e-09	1.10207e-08	0.004990	1	0
MYO7B	4648	broad.mit.edu	37	2	128324318	128324318	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:128324318A>G	ENST00000389524.4	+	5	439	c.386A>G	c.(385-387)gAg>gGg	p.E129G	MYO7B_ENST00000409816.2_Missense_Mutation_p.E129G|MYO7B_ENST00000428314.1_Missense_Mutation_p.E129G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	129	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.E129G(2)		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)		CATATGGGCGAGCTGCCCCCG	0.587000													12	34					0	0	0.010729	0	0
ABCF2	10061	broad.mit.edu	37	7	150918751	150918751	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:150918751C>A	ENST00000287844.2	-	7	943	c.834G>T	c.(832-834)ttG>ttT	p.L278F	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Missense_Mutation_p.L278F	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	278	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	p.L278F(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACGAGGACCAAGATGCGCT	0.458000													88	172					7.83748e-43	1.38663e-42	0.014410	1	0
GABRG1	2565	broad.mit.edu	37	4	46043115	46043115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:46043115C>A	ENST00000295452.4	-	9	1455	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	430					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.G430*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGTATCCTTCCTTCCCTCCAA	0.433000													19	118					2.32416e-17	3.41206e-17	0.014323	1	0
PCDHA5	56143	broad.mit.edu	37	5	140201397	140201397	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:140201397C>A	ENST00000529859.1	+	1	37	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.L13I|PCDHA5_ENST00000378126.3_Missense_Mutation_p.L13I	NM_018908.2	NP_061731.1												p.L13I(2)		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)			GGGATCCCGGCTCCTGCTGCT	0.517000													15	86					8.60227e-14	1.18711e-13	0.028581	1	0
ADAM18	8749	broad.mit.edu	37	8	39564357	39564357	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:39564357C>A	ENST00000265707.5	+	18	1996	c.1951C>A	c.(1951-1953)Cca>Aca	p.P651T	ADAM18_ENST00000379866.1_Missense_Mutation_p.P627T|ADAM18_ENST00000541111.1_Missense_Mutation_p.P65T|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	651	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P651T(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACATAGACCTCCAGATTGTAA	0.348000													11	35					1.5842e-08	1.87174e-08	0.016723	1	0
FRG1	2483	broad.mit.edu	37	4	190882991	190882991	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:190882991G>A	ENST00000226798.4	+	8	866	c.644G>A	c.(643-645)aGc>aAc	p.S215N		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	215					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.S215N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATTTCAGAGCTTCCAAGAC	0.294000													5	231					0	0	0.013537	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882166	43882166	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:43882166G>A	ENST00000443950.2	-	3	1653	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000544000.1_Silent_p.Y389Y	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537000													59	85					0	0	0.014410	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079179	15079179	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:15079179C>A	ENST00000598504.1	-	6	1843	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	SLC1A6_ENST00000544886.2_Missense_Mutation_p.G162W|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G162W|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G162W	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	162					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.G162W(1)		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)	CGGTGCAGCCCCTCCTTGGAG	0.562000													8	20					1.99824e-07	2.30566e-07	0.004990	1	0
JADE1	79960	broad.mit.edu	37	4	129793096	129793096	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:129793096A>C	ENST00000226319.6	+	11	2488	c.2208A>C	c.(2206-2208)aaA>aaC	p.K736N	PHF17_ENST00000452328.2_Missense_Mutation_p.K724N|PHF17_ENST00000512960.1_Missense_Mutation_p.K736N	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		736					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	p.K736N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGCAGTCAAAGTGCCTACAA	0.557000													8	50					0	0	0.008291	0	0
E2F1	1869	broad.mit.edu	37	20	32267639	32267639	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr20:32267639C>T	ENST00000343380.5	-	3	633	c.494G>A	c.(493-495)cGg>cAg	p.R165Q		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	165	Leucine-zipper.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R165Q(2)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						ATAGATGCGCCGCTTCTGCAC	0.587000													53	73					0	0	0.014410	0	0
GCK	2645	broad.mit.edu	37	7	44189441	44189441	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:44189441C>T	ENST00000403799.3	-	6	1066	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GCK_ENST00000395796.3_Silent_p.V198V|GCK_ENST00000345378.2_Silent_p.V200V|GCK_ENST00000437084.1_Silent_p.V182V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	199					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.V199V(1)|p.V200V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCATTGCCACCACATCCATTT	0.587000													24	44					0	0	0.021523	0	0
USP13	8975	broad.mit.edu	37	3	179399708	179399708	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:179399708G>T	ENST00000263966.3	+	2	682	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	USP13_ENST00000496897.1_Missense_Mutation_p.A6S|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	71					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A71S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TACATTTTTGGCCTTTGGAAG	0.423000													94	217					9.45097e-43	1.66356e-42	0.014410	1	0
FUK	197258	broad.mit.edu	37	16	70503108	70503108	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:70503108G>A	ENST00000288078.6	+	10	1069	c.837G>A	c.(835-837)gaG>gaA	p.E279E	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.E311E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	279						cytoplasm	ATP binding|fucokinase activity	p.E279E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGACCAGGGAGGACTTCCTGG	0.602000													56	131					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113169069	113169069	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:113169069C>A	ENST00000401783.2	-	38	9147	c.8811G>T	c.(8809-8811)tgG>tgT	p.W2937C	SVEP1_ENST00000297826.5_Missense_Mutation_p.W863C|SVEP1_ENST00000374469.1_Missense_Mutation_p.W2914C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2937	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.W2940C(1)		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						TCTCTGCATCCCAGTTGCCAT	0.488000													119	193					7.79072e-45	1.39264e-44	0.014410	1	0
PCNX	22990	broad.mit.edu	37	14	71443750	71443750	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:71443750G>T	ENST00000304743.2	+	6	1142	c.696G>T	c.(694-696)ttG>ttT	p.L232F	PCNX_ENST00000439984.3_Missense_Mutation_p.L232F|PCNX_ENST00000238570.5_Missense_Mutation_p.L232F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	232						integral to membrane		p.L232F(1)		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)		GACAGGACTTGCCAAGGGACT	0.483000													21	43					4.96729e-08	5.78958e-08	0.008871	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		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						CCTCGTGGAAATTGATGAAAT	0.617000													4	63					0	0	0.009096	0	0
VCAN	1462	broad.mit.edu	37	5	82836722	82836722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:82836722G>T	ENST00000265077.3	+	8	8465	c.7900G>T	c.(7900-7902)Gaa>Taa	p.E2634*	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1647*|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2634	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2633_E2634>D*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAACTGAGGAAACATTTGA	0.423000													34	141					2.05212e-20	3.16063e-20	0.023175	1	0
PXDN	7837	broad.mit.edu	37	2	1668737	1668737	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:1668737G>T	ENST00000252804.4	-	11	1451	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	467	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T467T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TACCTCCCTTGGTCCAGGCGA	0.622000													4	14					2.56e-06	2.89574e-06	0.009096	1	0
OR8J3	81168	broad.mit.edu	37	11	55904317	55904317	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:55904317C>A	ENST00000301529.1	-	1	877	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCATTATTCCTCAGGCTGTA	0.358000													37	79					1.15505e-17	1.71764e-17	0.009718	1	0
TRO	7216	broad.mit.edu	37	X	54949684	54949684	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:54949684A>G	ENST00000173898.7	+	3	831	c.719A>G	c.(718-720)aAt>aGt	p.N240S	TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.N240S|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.N240S|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	240					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.N240S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAAATTACCAATGAGACAGCC	0.512000													8	4					0	0	0.004482	0	0
LILRA1	11024	broad.mit.edu	37	19	55107243	55107243	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|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	267	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	p.L268I(1)		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)		ACTTCCTCCAGCTCCCTGGCC	0.607000													47	60					0	0	0.014410	0	0
OR6C68	403284	broad.mit.edu	37	12	55886519	55886519	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:55886519C>A	ENST00000379662.1	+	1	373	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.R120S|RP11-110A12.2_ENST00000555138.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R125S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						GTCATATGATCGCTATGTGGC	0.373000													46	70					4.0306e-16	5.81823e-16	0.014410	1	0
DVL3	1857	broad.mit.edu	37	3	183885808	183885808	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:183885808A>T	ENST00000313143.3	+	13	1701	c.1453A>T	c.(1453-1455)Acc>Tcc	p.T485S	DVL3_ENST00000431765.1_Missense_Mutation_p.T468S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	485	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.T485S(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAACAAGATCACCTTCTCCGA	0.577000													57	86					0	0	0.014410	0	0
AP3B1	8546	broad.mit.edu	37	5	77409635	77409635	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:77409635C>T	ENST00000255194.6	-	19	2365	c.2190G>A	c.(2188-2190)cgG>cgA	p.R730R	AP3B1_ENST00000519295.1_Silent_p.R681R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	730	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	p.R730R(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGCCTGACTCCCGTCCACTCT	0.453000									Hermansky-Pudlak syndrome				18	195					0	0	0.008871	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454083	37454083	+	Splice_Site	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:37454083G>T	ENST00000374660.1	+	18	1995	c.1896_splice	c.e18+1	p.E632_splice	ANKRD30A_ENST00000602533.1_Splice_Site_p.E632_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.E632_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	688						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E632D(1)		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						GGGATACTGAGGTACTGTGTG	0.328000													12	42					2.27111e-07	2.61178e-07	0.013537	1	0
FRG1B	284802	broad.mit.edu	37	20	29632625	29632625	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr20:29632625G>A	ENST00000278882.3	+	8	820	c.440G>A	c.(439-441)aGc>aAc	p.S147N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S147N														p.S147N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAATTTCAGAGCTTCCAAGAC	0.299000													13	883					0	0	0.016522	0	0
COL6A3	1293	broad.mit.edu	37	2	238244913	238244913	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:238244913G>A	ENST00000295550.4	-	40	9282	c.8830C>T	c.(8830-8832)Cct>Tct	p.P2944S	COL6A3_ENST00000472056.1_Missense_Mutation_p.P2337S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2738S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2744S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2743S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2738S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2944	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P2944S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGCTACAGGCTTCGCTGCC	0.627000													7	13					0	0	0.028581	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299261	186299261	+	Silent	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:186299261A>G	ENST00000439351.1	+	6	1487	c.558A>G	c.(556-558)caA>caG	p.Q186Q	DNAJB11_ENST00000265028.3_Silent_p.Q186Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	186					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.Q186Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGCGCTTCCAAATGACCCAGG	0.502000													49	89					0	0	0.014410	0	0
SLC4A9	83697	broad.mit.edu	37	5	139742048	139742048	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:139742048G>T	ENST00000230993.6	+	6	845	c.810G>T	c.(808-810)ctG>ctT	p.L270L	SLC4A9_ENST00000432095.2_Silent_p.L246L|SLC4A9_ENST00000506545.1_Silent_p.L246L|SLC4A9_ENST00000506757.2_Silent_p.L246L|SLC4A9_ENST00000507527.1_Silent_p.L270L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	270						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.L270L(2)|p.L244L(1)		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)			GCCTTCTCCTGGGCCCCTGTA	0.612000													41	79					1.15183e-24	1.88333e-24	0.009718	1	0
SH3TC1	54436	broad.mit.edu	37	4	8230363	8230363	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:8230363A>T	ENST00000539824.1	+	12	3088	c.2714A>T	c.(2713-2715)cAc>cTc	p.H905L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.H981L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	981							binding	p.H981L(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGATGGGCCACGTGGAGAGT	0.647000													9	7					0	0	0.006214	0	0
SORCS3	22986	broad.mit.edu	37	10	107012615	107012615	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:107012615C>A	ENST00000369701.3	+	23	3415	c.3188C>A	c.(3187-3189)cCc>cAc	p.P1063H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1063						integral to membrane	neuropeptide receptor activity	p.P1063H(1)		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)		ATTCTTCCACCCAAGAACCTG	0.517000													34	114					6.50621e-10	8.07426e-10	0.013726	1	0
TRPV5	56302	broad.mit.edu	37	7	142612698	142612698	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:142612698C>T	ENST00000265310.1	-	9	1511	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	388					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G388E(1)		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)					CACCAGCTCCCCCACCAGCCT	0.542000													10	35					0	0	0.013537	0	0
PTPRK	5796	broad.mit.edu	37	6	128388674	128388674	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:128388674C>A	ENST00000368227.3	-	12	2513	c.2147G>T	c.(2146-2148)aGt>aTt	p.S716I	PTPRK_ENST00000368210.3_Missense_Mutation_p.S716I|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Missense_Mutation_p.S716I|PTPRK_ENST00000368226.4_Missense_Mutation_p.S716I|PTPRK_ENST00000532331.1_Missense_Mutation_p.S716I|PTPRK_ENST00000368213.5_Missense_Mutation_p.S716I|PTPRK_ENST00000368207.3_Missense_Mutation_p.S716I|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	716					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S716I(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTCTCCACACTGCTCATCGC	0.473000													22	49					5.26018e-13	7.14473e-13	0.012319	1	0
THSD4	79875	broad.mit.edu	37	15	72063533	72063533	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:72063533G>T	ENST00000355327.3	+	17	3034	c.2900G>T	c.(2899-2901)tGt>tTt	p.C967F	THSD4_ENST00000261862.6_Missense_Mutation_p.C967F|THSD4_ENST00000357769.4_Missense_Mutation_p.C607F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	967	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity	p.C967F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTCAGGACTGTGTCCCTGAA	0.453000													41	157					1.22674e-20	1.91505e-20	0.008740	1	0
INPP5F	22876	broad.mit.edu	37	10	121551579	121551579	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:121551579G>T	ENST00000369081.1	+	3	473	c.355G>T	c.(355-357)Gca>Tca	p.A119S	INPP5F_ENST00000361976.2_Intron|INPP5F_ENST00000369083.3_Intron			Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	0							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)		AGCAGGGTTTGCACTTGGGAA	0.507000													8	241					0.00307968	0.00325917	0.003080	1	0
LYZL2	119180	broad.mit.edu	37	10	30915049	30915049	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:30915049G>T	ENST00000375318.2	-	3	477	c.421C>A	c.(421-423)Cac>Aac	p.H141N		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.H141N(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGGCGACGTGGCAGTGGTTG	0.557000													38	106					9.62906e-15	1.35593e-14	0.025465	1	0
PYHIN1	149628	broad.mit.edu	37	1	158911926	158911926	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:158911926A>G	ENST00000368140.1	+	5	984	c.739A>G	c.(739-741)Aca>Gca	p.T247A	PYHIN1_ENST00000392254.2_Missense_Mutation_p.T247A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T238A|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T238A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	247	HIN-200.				cell cycle	nuclear speck		p.T247A(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGCTACGCAGACACAGTTCTT	0.323000													28	82					0	0	0.024334	0	0
HSD17B4	3295	broad.mit.edu	37	5	118824886	118824886	+	Splice_Site	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:118824886G>T	ENST00000504811.1	+	10	881		c.e10-1		HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.?(2)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CTTTATTTCAGATCTTGTGGA	0.358000													21	119					1.01871e-10	1.29688e-10	0.008871	1	0
LCP2	3937	broad.mit.edu	37	5	169701312	169701312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:169701312G>T	ENST00000046794.5	-	6	932	c.317C>A	c.(316-318)tCg>tAg	p.S106*		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	106					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.S106*(2)		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)		CACAAAGGACGACCAGCCCCC	0.537000													6	18					3.59834e-05	3.96622e-05	0.021553	1	0
PCNX	22990	broad.mit.edu	37	14	71502801	71502801	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:71502801A>G	ENST00000304743.2	+	19	4240	c.3794A>G	c.(3793-3795)gAc>gGc	p.D1265G	PCNX_ENST00000439984.3_Missense_Mutation_p.D1154G|PCNX_ENST00000238570.5_Missense_Mutation_p.D1265G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1265						integral to membrane		p.D1265G(1)		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)		TTACAGTCTGACCTGGTAGTA	0.318000													80	208					0	0	0.014410	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													3	120					0	0	0.004672	0	0
ZNF750	79755	broad.mit.edu	37	17	80789581	80789581	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:80789581G>A	ENST00000269394.3	-	2	1583	c.750C>T	c.(748-750)caC>caT	p.H250H	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	250						intracellular	zinc ion binding	p.H250H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGCCAGCCCGTGCTCTGTGT	0.562000													9	86					0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103480084	103480084	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:103480084T>C	ENST00000358392.2	-	13	1908	c.1591A>G	c.(1591-1593)Att>Gtt	p.I531V	COL11A1_ENST00000370096.3_Missense_Mutation_p.I519V|COL11A1_ENST00000512756.1_Missense_Mutation_p.I403V|COL11A1_ENST00000353414.4_Missense_Mutation_p.I480V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	519	Triple-helical region.				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	p.I519V(1)|p.I531V(1)		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)		TGCTGAAGAATAGCTTGAGCC	0.423000													19	36					0	0	0.018920	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168506	50168506	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:50168506G>T	ENST00000284509.6	-	25	3137	c.2996C>A	c.(2995-2997)gCc>gAc	p.A999D	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A999D	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	999					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	p.A999D(1)		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)		CAAAGATGTGGCCATGGTAAC	0.438000													21	71					6.44725e-10	8.02997e-10	0.014323	1	0
C9orf173	441476	broad.mit.edu	37	9	140146898	140146898	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:140146898G>A	ENST00000388931.3	+	4	439	c.413G>A	c.(412-414)gGc>gAc	p.G138D	C9orf173_ENST00000412566.1_Missense_Mutation_p.G138D	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	138								p.G138D(1)		kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GAGGGCGGTGGCCGCAGGGCA	0.622000													6	20					0	0	0.021553	0	0
VSX1	30813	broad.mit.edu	37	20	25059410	25059410	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr20:25059410G>A	ENST00000376707.3	-	3	716	c.682C>T	c.(682-684)Cca>Tca	p.P228S	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P228S(1)		central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACTGAATGTGGGAATGACACG	0.517000													47	245					0	0	0.014410	0	0
GREB1	9687	broad.mit.edu	37	2	11733003	11733003	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:11733003C>A	ENST00000381486.2	+	11	1747	c.1447C>A	c.(1447-1449)Ccg>Acg	p.P483T	GREB1_ENST00000234142.5_Missense_Mutation_p.P483T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	483						integral to membrane		p.P483K(1)		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)		GCAGGCGCCGCCGCAGCCCTT	0.726000													4	3					4.096e-09	4.97577e-09	0.021553	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618080	77618080	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:77618080C>G	ENST00000521891.2	+	2	2205	c.1757C>G	c.(1756-1758)gCc>gGc	p.A586G	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A586G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A586G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A586G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	586						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A586G(1)		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)			GACAGTTCAGCCACTCCTCAC	0.587000										HNSCC(33;0.089)			41	64					0	0	0.027894	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606934	82606934	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:82606934T>C	ENST00000518568.1	-	1	1475	c.274A>G	c.(274-276)Act>Gct	p.T92A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	92						integral to membrane	bile acid:sodium symporter activity	p.T92A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TCTTCATCAGTCACCAGATTT	0.368000													83	192					0	0	0.014410	0	0
KDM3B	51780	broad.mit.edu	37	5	137721771	137721771	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:137721771G>T	ENST00000314358.5	+	7	1041	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	281					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	p.G281W(1)		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						AAGCATAGAGGGGAAAGATGG	0.423000													62	146					7.50695e-29	1.27581e-28	0.014410	1	0
SYNPO	11346	broad.mit.edu	37	5	150028579	150028579	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:150028579C>T	ENST00000394243.1	+	3	1848	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	SYNPO_ENST00000519664.1_Missense_Mutation_p.P248S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P248S|SYNPO_ENST00000522122.1_Missense_Mutation_p.P492S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	492					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	p.P492S(1)|p.P248S(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCAGGCGCCAGGGGGCAC	0.637000													40	99					0	0	0.014410	0	0
LGR6	59352	broad.mit.edu	37	1	202287787	202287787	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:202287787T>C	ENST00000367278.3	+	18	2445	c.2356T>C	c.(2356-2358)Tac>Cac	p.Y786H	LGR6_ENST00000439764.2_Missense_Mutation_p.Y647H|LGR6_ENST00000255432.7_Missense_Mutation_p.Y734H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	786						integral to membrane|plasma membrane	protein-hormone receptor activity	p.Y786H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGGGCTCCTCTACTGTCCCGT	0.652000													38	154					0	0	0.013114	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170270	90170270	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:90170270C>G	ENST00000333209.3	-	2	1510	c.992G>C	c.(991-993)aGa>aCa	p.R331T		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	331								p.R331T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGACGGATCTGCTCTCGAC	0.547000													16	72					0	0	0.004990	0	0
EFHB	151651	broad.mit.edu	37	3	19974919	19974919	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:19974919G>C	ENST00000295824.9	-	1	753	c.592C>G	c.(592-594)Caa>Gaa	p.Q198E	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.Q68E	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.Q198E(1)|p.Q196E(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCCTCGGCTTGGGTTAGTCCA	0.463000													23	120					0	0	0.016522	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783392	115783392	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:115783392G>A	ENST00000343348.6	-	19	2797	c.2010C>T	c.(2008-2010)gtC>gtT	p.V670V	SEMA6A_ENST00000257414.8_Silent_p.V687V|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.V49V|SEMA6A_ENST00000282394.6_Silent_p.V147V|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.V97V|SEMA6A_ENST00000510263.1_Silent_p.V670V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	670					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.V670V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGACGCAGTAGACGGTGATGC	0.617000													18	27					0	0	0.014323	0	0
KIF2B	84643	broad.mit.edu	37	17	51900917	51900917	+	Missense_Mutation	SNP	G	G	T	rs149901637		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:51900917G>T	ENST00000268919.4	+	1	679	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	175					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A175S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTAGACGCGCCCTCGATGT	0.552000													37	80					1.49673e-21	2.36868e-21	0.025465	1	0
HK3	3101	broad.mit.edu	37	5	176314590	176314590	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:176314590C>A	ENST00000292432.5	-	11	1553	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	488	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.A488S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|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)			CGGAATGGGGCCAGGGTCTCC	0.662000													16	56					7.07596e-05	7.72534e-05	0.006122	1	0
TRIM60	166655	broad.mit.edu	37	4	165961514	165961514	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:165961514G>T	ENST00000512596.1	+	3	506	c.290G>T	c.(289-291)tGt>tTt	p.C97F	TRIM60_ENST00000341062.5_Missense_Mutation_p.C97F|TRIM60_ENST00000508504.1_Missense_Mutation_p.C97F	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	97						intracellular	zinc ion binding	p.C97F(1)		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)		AATGCCATGTGTGAAAAACAC	0.428000													20	67					1.96292e-10	2.47156e-10	0.010504	1	0
ACE	1636	broad.mit.edu	37	17	61574261	61574261	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:61574261G>T	ENST00000577647.1	+	13	1929	c.1884G>T	c.(1882-1884)aaG>aaT	p.K628N	ACE_ENST00000290866.4_Missense_Mutation_p.K1202N|ACE_ENST00000421982.2_Missense_Mutation_p.K407N|ACE_ENST00000490216.2_Missense_Mutation_p.K628N|ACE_ENST00000428043.1_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.K587N|ACE_ENST00000290863.6_Missense_Mutation_p.K628N			P12821	ACE_HUMAN	angiotensin I converting enzyme	1202	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	p.K628N(1)|p.K1202N(1)		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)	GCTACTTCAAGCCGCTGCTGG	0.652000													6	12					0.0215528	0.0223294	0.021553	1	0
DNAI1	27019	broad.mit.edu	37	9	34500817	34500817	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:34500817G>T	ENST00000242317.4	+	11	1170	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	333					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.L333L(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCAAGCGCCTGTCCGTCACTG	0.532000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					3.59834e-05	3.96622e-05	0.021553	1	0
NCAPG2	54892	broad.mit.edu	37	7	158468325	158468325	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:158468325C>T	ENST00000409339.3	-	12	1283	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	NCAPG2_ENST00000275830.10_Silent_p.P182P|NCAPG2_ENST00000356309.3_Silent_p.P390P|NCAPG2_ENST00000409423.1_Silent_p.P390P|NCAPG2_ENST00000449727.2_Silent_p.P390P			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	390					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.P390P(1)		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)		AACGGACCATCGGGTAAGGAT	0.448000													17	95					0	0	0.012319	0	0
RHOH	399	broad.mit.edu	37	4	40245040	40245040	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:40245040G>T	ENST00000381799.4	+	3	758	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	RHOH_ENST00000505618.1_Missense_Mutation_p.D12Y	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	12					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	p.D12Y(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTTGGTGGGCGACTCTGCTGT	0.582000													28	50					8.16721e-17	1.1889e-16	0.010818	1	0
OR52A5	390054	broad.mit.edu	37	11	5153632	5153632	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:5153632G>A	ENST00000307388.1	-	1	240	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P81S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACATTTTGGGAAGAATGCAG	0.378000													42	67					0	0	0.011902	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685455	125685455	+	Silent	SNP	G	G	T	rs149056465	byFrequency	TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:125685455G>T	ENST00000371126.1	-	1	1379	c.1137C>A	c.(1135-1137)gcC>gcA	p.A379A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	379								p.A379A(2)		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						GGAATTTCTGGGCCCGGACGT	0.632000													21	36					4.26978e-12	5.68754e-12	0.018920	1	0
NCOR1	9611	broad.mit.edu	37	17	16068459	16068459	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:16068459C>T	ENST00000268712.3	-	5	709	c.452G>A	c.(451-453)gGc>gAc	p.G151D	NCOR1_ENST00000395851.1_Missense_Mutation_p.G151D|NCOR1_ENST00000395848.1_Missense_Mutation_p.G42D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	151	Interaction with ZBTB33 and HEXIM1.				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	p.G151D(1)		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)		TTCATGTTTGCCTCCGAATGC	0.373000													10	238					0	0	0.008871	0	0
AOC1	26	broad.mit.edu	37	7	150554475	150554475	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:150554475A>G	ENST00000493429.1	+	4	1501	c.917A>G	c.(916-918)cAc>cGc	p.H306R	AOC1_ENST00000416793.2_Missense_Mutation_p.H306R|AOC1_ENST00000467291.1_Missense_Mutation_p.H306R|AOC1_ENST00000360937.4_Missense_Mutation_p.H306R					amine oxidase, copper containing 1									p.H306R(1)									GTCCAGCCCCACGGCCCTCGC	0.692000													8	12					0	0	0.010729	0	0
PTPRD	5789	broad.mit.edu	37	9	8339047	8339047	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:8339047C>A	ENST00000381196.4	-	40	5797	c.5253_splice	c.e40-1	p.E1752_splice	PTPRD_ENST00000397606.3_Splice_Site_p.E1345_splice|PTPRD_ENST00000397611.3_Splice_Site_p.E1342_splice|PTPRD_ENST00000397617.3_Splice_Site_p.E1345_splice|PTPRD_ENST00000540109.1_Splice_Site_p.E1752_splice|PTPRD_ENST00000537002.1_Splice_Site_p.E1342_splice|PTPRD_ENST00000360074.4_Splice_Site_p.E1739_splice|PTPRD_ENST00000486161.1_Splice_Site_p.E1345_splice|PTPRD_ENST00000356435.5_Splice_Site_p.E1752_splice|PTPRD_ENST00000355233.5_Splice_Site_p.E1346_splice|PTPRD_ENST00000358503.5_Splice_Site_p.E1730_splice	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1752	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1752*(2)|p.E1223*(1)|p.E1346*(1)		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)		TGACATTTCTCCTAAAAGGAG	0.358000										TSP Lung(15;0.13)			15	33					0.006122	0.00641973	0.006122	1	0
FBN2	2201	broad.mit.edu	37	5	127627262	127627262	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:127627262G>T	ENST00000508053.1	-	55	7225	c.6251C>A	c.(6250-6252)cCc>cAc	p.P2084H	FBN2_ENST00000262464.4_Missense_Mutation_p.P2084H			P35556	FBN2_HUMAN	fibrillin 2	2084	EGF-like 35; calcium-binding.				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	p.P2084H(2)		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)		AAAGCCAGGGGGGCAGAGGCA	0.438000													28	171					6.07407e-21	9.56875e-21	0.007291	1	0
JADE2	23338	broad.mit.edu	37	5	133914427	133914427	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:133914427C>T	ENST00000395003.1	+	11	1972	c.1793C>T	c.(1792-1794)aCc>aTc	p.T598I	PHF15_ENST00000361895.2_Missense_Mutation_p.T599I|PHF15_ENST00000282605.4_Missense_Mutation_p.T642I|PHF15_ENST00000402835.1_3'UTR	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		598					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.T598I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGGCCGCACCCGCCTGCCT	0.652000													9	28					0	0	0.008291	0	0
ARMC3	219681	broad.mit.edu	37	10	23287106	23287106	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:23287106C>T	ENST00000298032.5	+	11	1289	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	ARMC3_ENST00000409983.3_Missense_Mutation_p.P402L|ARMC3_ENST00000409049.3_Missense_Mutation_p.P402L|ARMC3_ENST00000376528.4_Missense_Mutation_p.P139L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	402							binding	p.P402L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTATTGATCCATTAATAAAC	0.418000													7	33					0	0	0.001984	0	0
ADAM30	11085	broad.mit.edu	37	1	120436737	120436737	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:120436737C>A	ENST00000369400.1	-	1	2381	c.2223G>T	c.(2221-2223)caG>caT	p.Q741H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	741	5 X 9 AA approximate repeats.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q741H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TAGATTCTTCCTGTACAGTTT	0.368000													10	296					2.74318e-10	3.44144e-10	0.006214	1	0
MYOT	9499	broad.mit.edu	37	5	137217708	137217708	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:137217708C>A	ENST00000239926.4	+	6	1104	c.730C>A	c.(730-732)Cag>Aag	p.Q244K	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.Q60K|MYOT_ENST00000515645.1_Missense_Mutation_p.Q129K	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	244	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.Q244K(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATGCAATCCAGGAGAAATT	0.378000													27	140					7.53681e-25	1.23819e-24	0.006320	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819835	159819835	+	RNA	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:159819835G>A	ENST00000497452.1	-	0	517																		p.L217L(1)									TTGAATTATGGGCCCTACGGT	0.408000													21	87					0	0	0.014323	0	0
TECRL	253017	broad.mit.edu	37	4	65194246	65194246	+	Silent	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:65194246A>G	ENST00000381210.3	-	3	425	c.315T>C	c.(313-315)ggT>ggC	p.G105G	TECRL_ENST00000507440.1_Silent_p.G105G	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	105					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.G105G(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTAGCTGCAGACCAACTCGAG	0.313000													19	56					0	0	0.012319	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881280	142881280	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:142881280C>T	ENST00000446620.1	+	1	769	c.769C>T	c.(769-771)Cac>Tac	p.H257Y		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	257					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.H257Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CATGGAGGCTCACATGGGGGC	0.493000													54	103					0	0	0.014410	0	0
SYT15	83849	broad.mit.edu	37	10	46961994	46961994	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:46961994C>A	ENST00000374323.3	-	7	1988	c.1401G>T	c.(1399-1401)gcG>gcT	p.A467A	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374321.4_Silent_p.A414A			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	414						integral to membrane|plasma membrane		p.A414A(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCGGCAGAGCGCATGCCAGC	0.657000													25	135					3.70037e-05	4.0657e-05	0.009535	1	0
CLUH	23277	broad.mit.edu	37	17	2597328	2597328	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:2597328G>A	ENST00000570628.1	-	19	3085	c.2980C>T	c.(2980-2982)Ctg>Ttg	p.L994L	CLUH_ENST00000435359.1_Silent_p.L994L|CLUH_ENST00000538975.1_Silent_p.L994L|CLUH_ENST00000575014.1_Silent_p.L927L					clustered mitochondria (cluA/CLU1) homolog									p.L995L(2)									CCCTCCTTCAGGAAGCCTGCA	0.652000													14	46					0	0	0.004990	0	0
ZNF624	57547	broad.mit.edu	37	17	16526384	16526384	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:16526384G>A	ENST00000311331.7	-	6	1907	c.1816C>T	c.(1816-1818)Cac>Tac	p.H606Y		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H606Y(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTCCAGTGTGAATTCTCTGA	0.383000													145	263					0	0	0.014410	0	0
LANCL2	55915	broad.mit.edu	37	7	55467749	55467749	+	Silent	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:55467749G>C	ENST00000254770.2	+	4	1208	c.630G>C	c.(628-630)ctG>ctC	p.L210L	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	210					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.L210L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TACTGTACCTGAACACAGAGA	0.478000													67	113					0	0	0.014410	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579150	44579150	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:44579150C>T	ENST00000289547.4	-	2	901	c.846G>A	c.(844-846)ccG>ccA	p.P282P	NPC1L1_ENST00000381160.3_Silent_p.P282P|NPC1L1_ENST00000423141.1_Silent_p.P282P|NPC1L1_ENST00000546276.1_Silent_p.P282P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	282					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.P282P(1)		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)	CCAGACTGCCCGGCATCTGGC	0.622000													15	65					0	0	0.007413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884754	228884754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:228884754G>T	ENST00000392056.3	-	7	862	c.816C>A	c.(814-816)taC>taA	p.Y272*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Y272*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	272						cytoplasm	protein binding	p.Y272*(2)		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)		ATTTGTTGATGTATTTGTCTT	0.423000													143	346					1.91924e-68	3.57912e-68	0.014410	1	0
OR13G1	441933	broad.mit.edu	37	1	247836300	247836300	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:247836300G>T	ENST00000359688.2	-	1	65	c.44C>A	c.(43-45)aCc>aAc	p.T15N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T15N(1)		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)			AGGCTTTTTGGTGAGGCCCAG	0.398000													86	104					8.34767e-46	1.50782e-45	0.014410	1	0
CSMD3	114788	broad.mit.edu	37	8	113484912	113484912	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:113484912C>A	ENST00000297405.5	-	32	5547	c.5303G>T	c.(5302-5304)gGt>gTt	p.G1768V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1664V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1768V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1728V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1768	CUB 10.					integral to membrane|plasma membrane		p.G1728V(1)|p.G1768V(1)		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						GCCTTCTGAACCTGTTGAACG	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	71					5.8336e-16	8.35101e-16	0.015359	1	0
PPT2	9374	broad.mit.edu	37	6	32130715	32130715	+	Silent	SNP	T	T	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:32130715T>G	ENST00000324816.6	+	9	1465	c.897T>G	c.(895-897)ccT>ccG	p.P299P	PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Silent_p.P299P|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000375137.2_Silent_p.P299P|PPT2_ENST00000361568.2_Silent_p.P305P|PPT2_ENST00000395523.1_Silent_p.P299P			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	299					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.P305P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GCATTGAACCTTGGCTCTCCT	0.567000													100	284					0	0	0.014410	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601981	58601981	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:58601981T>C	ENST00000287275.1	-	6	1196	c.806A>G	c.(805-807)cAg>cGg	p.Q269R	GLYATL2_ENST00000532258.1_Missense_Mutation_p.Q269R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	269						mitochondrion	glycine N-acyltransferase activity	p.Q269R(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)	GTTCAGTGCCTGTAGGCTTTT	0.383000													16	100					0	0	0.006122	0	0
EPHB1	2047	broad.mit.edu	37	3	134967276	134967276	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:134967276C>G	ENST00000398015.3	+	14	2985	c.2615C>G	c.(2614-2616)gCg>gGg	p.A872G	EPHB1_ENST00000493838.1_Missense_Mutation_p.A433G	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A872G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCCGGTTTGCGGAGATTGTC	0.587000													8	26					0	0	0.010729	0	0
CRIP3	401262	broad.mit.edu	37	6	43275371	43275371	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:43275371C>A	ENST00000372569.3	-	4	311	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000274990.4_Missense_Mutation_p.G103C	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	103						cytoplasm	zinc ion binding	p.G103C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGGGGGAGGCCAGTCCTTGGC	0.642000													63	109					1.65906e-26	2.79207e-26	0.014410	1	0
MRFAP1	93621	broad.mit.edu	37	4	6642869	6642869	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:6642869G>A	ENST00000320912.4	+	2	933	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	MRFAP1_ENST00000382581.4_Missense_Mutation_p.A94T|MRFAP1_ENST00000507420.1_Missense_Mutation_p.A94T	NM_001272053.1	NP_001258982.1	Q9Y605	MOFA1_HUMAN	Morf4 family associated protein 1	94						nucleus|perinuclear region of cytoplasm	protein binding	p.A94T(1)		lung(1)	1						GGGCCGGGCGGCCAAGAGGTG	0.637000													16	74					0	0	0.004990	0	0
IL1F10	84639	broad.mit.edu	37	2	113831983	113831983	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:113831983G>A	ENST00000393197.2	+	2	531	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	IL1F10_ENST00000341010.2_Missense_Mutation_p.C37Y|IL1F10_ENST00000337569.3_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	37						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.C37Y(1)		endometrium(1)|lung(6)|ovary(1)	8						GCAGACAACTGCTGTGCAGGT	0.542000													4	34					0	0	0.014758	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069150	6069150	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:6069150G>T	ENST00000381095.3	-	2	985	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	NLGN4X_ENST00000381092.1_Missense_Mutation_p.L120M|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L120M|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L120M|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L120M	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	120					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.L120M(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTCATGCAGTAAGGATCTC	0.493000													35	59					1.47197e-15	2.08983e-15	0.007835	1	0
CFHR1	3078	broad.mit.edu	37	1	196794714	196794714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:196794714G>T	ENST00000320493.5	+	2	254	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.E56*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	56	Sushi 1.				complement activation	extracellular space		p.E56*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TTACTCCTGTGAATATAATTT	0.358000													43	64					9.85913e-13	1.33388e-12	0.009718	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080244	70080244	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:70080244G>C	ENST00000446444.1	-	1	205	c.197C>G	c.(196-198)cCc>cGc	p.P66R	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	66					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P66R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCATCATTGGGATCAAAAAG	0.378000													65	123					0	0	0.014410	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090871	238090871	+	RNA	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:238090871A>T	ENST00000450451.1	+	0	2377					NR_027247.2																						CCCAATGGCCAGGTCATCACC	0.522000													13	10					0	0	0.020292	0	0
TNR	7143	broad.mit.edu	37	1	175334162	175334162	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:175334162C>A	ENST00000367674.1	-	12	3279	c.2571G>T	c.(2569-2571)gtG>gtT	p.V857V	TNR_ENST00000263525.2_Silent_p.V857V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	857	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V857V(1)		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)					TGATGGAGCCCACAATGGGCT	0.502000													39	119					4.01344e-20	6.15394e-20	0.014410	1	0
PLXNA4	91584	broad.mit.edu	37	7	131831381	131831381	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:131831381C>A	ENST00000359827.3	-	28	5905	c.4943G>T	c.(4942-4944)gGa>gTa	p.G1648V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1648V			Q9HCM2	PLXA4_HUMAN	plexin A4	1648						integral to membrane|intracellular|plasma membrane		p.G1648V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCTTGACTCCACTCTCCAG	0.587000													132	254					1.95558e-62	3.62729e-62	0.014410	1	0
GPLD1	2822	broad.mit.edu	37	6	24466972	24466972	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:24466972C>T	ENST00000230036.1	-	10	867	c.757G>A	c.(757-759)Gat>Aat	p.D253N	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	253						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.D253N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATGCCATATCATCCAGTCCT	0.373000													4	119					0	0	0.014758	0	0
MYH2	4620	broad.mit.edu	37	17	10435205	10435205	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:10435205C>A	ENST00000245503.5	-	22	2826	c.2441_splice	c.e22-1	p.R814_splice	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.R814_splice|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	814	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R814S(1)		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						AGATGGCCTCCCTGAAATTTA	0.428000													28	130					1.55811e-20	2.41053e-20	0.008361	1	0
HERPUD2	64224	broad.mit.edu	37	7	35733804	35733804	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:35733804G>A	ENST00000396081.1	-	1	941	c.137C>T	c.(136-138)cCt>cTt	p.P46L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.P46L	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	46	Ubiquitin-like.				response to unfolded protein	integral to membrane		p.P46L(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGGTTTGCTAGGGTAAACGTT	0.473000													45	177					0	0	0.011902	0	0
VCAN	1462	broad.mit.edu	37	5	82836721	82836721	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:82836721G>C	ENST00000265077.3	+	8	8464	c.7899G>C	c.(7897-7899)gaG>gaC	p.E2633D	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1646D|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2633	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2633_E2634>D*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTTAACTGAGGAAACATTTG	0.418000													34	139					0	0	0.023175	0	0
LONP2	83752	broad.mit.edu	37	16	48304118	48304118	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:48304118C>G	ENST00000285737.4	+	7	1267	c.1174C>G	c.(1174-1176)Cta>Gta	p.L392V	LONP2_ENST00000535754.1_Missense_Mutation_p.L348V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	392					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	p.L392V(1)		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						GGCCAAGACTCTAGGTCGAGA	0.468000													3	175					0	0	0.004672	0	0
IL20RA	53832	broad.mit.edu	37	6	137323091	137323091	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:137323091C>T	ENST00000367748.1	-	6	1519	c.933G>A	c.(931-933)caG>caA	p.Q311Q	IL20RA_ENST00000541547.1_Silent_p.Q373Q|IL20RA_ENST00000316649.5_Silent_p.Q422Q			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	422						integral to membrane	receptor activity	p.Q422Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ACACCTCCTCCTGCAAACTGA	0.507000													34	77					0	0	0.012213	0	0
OR13D1	286365	broad.mit.edu	37	9	107457008	107457008	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:107457008C>A	ENST00000318763.5	+	1	349	c.306C>A	c.(304-306)gaC>gaA	p.D102E		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D102E(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CATTCTTGGACATCTGTTACA	0.418000													154	336					1.51657e-79	2.85911e-79	0.014410	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76501258	76501258	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:76501258A>T	ENST00000307431.8	+	11	1875	c.1490A>T	c.(1489-1491)gAc>gTc	p.D497V	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D501V|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D425V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D449V|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	498	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D497V(1)|p.D473V(1)|p.D425V(1)		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						GGTTGTCCTGACAAAAGCTTT	0.363000													15	29					0	0	0.004990	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108969	90108969	+	RNA	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:90108969C>T	ENST00000390271.2	+	0	260																											TCTCAGGGGTCCCCTCGAGGT	0.507000													18	83					0	0	0.010504	0	0
ERN1	2081	broad.mit.edu	37	17	62175545	62175545	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:62175545C>T	ENST00000433197.2	-	2	206	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	37					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T37T(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTCCATCCAGCGTTGACACAA	0.423000													24	92					0	0	0.016522	0	0
SNX29	92017	broad.mit.edu	37	16	12571716	12571716	+	Splice_Site	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:12571716G>T	ENST00000566228.1	+	19	2247	c.2178_splice	c.e19+1	p.K726_splice	SNX29_ENST00000323433.4_Splice_Site_p.K341_splice|SNX29_ENST00000306030.3_Splice_Site_p.K341_splice	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	341					cell communication		phosphatidylinositol binding	p.K341N(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTGGAAACAAGGTACCATCCC	0.453000													10	20					5.16669e-11	6.62642e-11	0.010729	1	0
STAB1	23166	broad.mit.edu	37	3	52546617	52546617	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:52546617G>T	ENST00000321725.6	+	28	3061	c.2985G>T	c.(2983-2985)ctG>ctT	p.L995L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	995	FAS1 3.				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	p.L995L(1)		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)		CTTAGGAGCTGGAGGCAAATG	0.562000													20	41					1.64293e-13	2.25822e-13	0.018920	1	0
DSG1	1828	broad.mit.edu	37	18	28906930	28906930	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:28906930G>A	ENST00000257192.4	+	3	390	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	60	Cadherin 1.				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	p.E60K(1)		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)			AGCCTGTCGTGAAGGTGAAGA	0.388000													26	155					0	0	0.012213	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421979	62421979	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr20:62421979C>T	ENST00000245663.4	-	2	282	c.132G>A	c.(130-132)gcG>gcA	p.A44A	ZBTB46_ENST00000302995.2_Silent_p.A44A|ZBTB46_ENST00000395104.1_Silent_p.A44A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	44	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A44A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTTCTTGTGCGCCTTGAAGA	0.647000													3	43					0	0	0.004672	0	0
NTRK1	4914	broad.mit.edu	37	1	156834152	156834152	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:156834152C>A	ENST00000368196.3	+	2	339	c.219C>A	c.(217-219)atC>atA	p.I73I	NTRK1_ENST00000524377.1_Silent_p.I73I|NTRK1_ENST00000392302.2_Silent_p.I43I|NTRK1_ENST00000358660.3_Silent_p.I73I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	73					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	p.I43I(1)|p.I73I(1)		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)	ACAGCTACATCGAGAACCAGC	0.592000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			39	42					1.30998e-17	1.93967e-17	0.023175	1	0
KEAP1	9817	broad.mit.edu	37	19	10602719	10602719	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:10602719T>A	ENST00000171111.5	-	3	1406	c.859A>T	c.(859-861)Aag>Tag	p.K287*	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.K287*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.K287*(1)		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)			ATCTCGCACTTCTGCAGCTGC	0.627000													26	28					0	0	0.008361	0	0
CDK5R2	8941	broad.mit.edu	37	2	219824752	219824752	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:219824752G>T	ENST00000302625.4	+	1	376	c.210G>T	c.(208-210)gtG>gtT	p.V70V	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	70					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	p.V70V(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGCCTGGTGGCCGCGTCCG	0.692000													11	10					1.5842e-08	1.87174e-08	0.016723	1	0
VNN2	8875	broad.mit.edu	37	6	133073695	133073695	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:133073695A>G	ENST00000326499.6	-	4	855	c.731T>C	c.(730-732)cTt>cCt	p.L244P	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.L191P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	244	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.L244P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGCTGTCAAAAGGGGCAAAAC	0.423000													3	188					0	0	0.004672	0	0
IARS2	55699	broad.mit.edu	37	1	220307795	220307795	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:220307795G>T	ENST00000366922.1	+	15	2004	c.1673G>T	c.(1672-1674)gGt>gTt	p.G558V	IARS2_ENST00000302637.5_Missense_Mutation_p.G630V			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.G630V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGCTCGGGGGTTGGTTTCAG	0.393000													31	100					6.1244e-12	8.12661e-12	0.007835	1	0
OR5B3	441608	broad.mit.edu	37	11	58170161	58170161	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:58170161G>T	ENST00000309403.2	-	1	721	c.722C>A	c.(721-723)tCt>tAt	p.S241Y		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241Y(1)		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)				AATGAAATGAGAGGCACAGGT	0.443000													26	97					1.1804e-14	1.65543e-14	0.021523	1	0
SPP2	6694	broad.mit.edu	37	2	234975197	234975197	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:234975197G>T	ENST00000168148.3	+	5	553	c.465G>T	c.(463-465)ttG>ttT	p.L155F	SPP2_ENST00000373368.1_Missense_Mutation_p.L155F	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	155					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.L155F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GGGACATGTTGGGATCTCATA	0.308000													56	142					4.29146e-36	7.43996e-36	0.014410	1	0
MROH2B	133558	broad.mit.edu	37	5	41049501	41049501	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:41049501G>T	ENST00000399564.4	-	14	1832	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	MROH2B_ENST00000506092.2_Missense_Mutation_p.A16E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.A461E(1)									TGTGTATTCTGCAGGTACCAC	0.468000													5	39					8.12818e-05	8.81831e-05	0.001984	1	0
INPPL1	3636	broad.mit.edu	37	11	71949145	71949145	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:71949145G>T	ENST00000541756.1	+	27	3816	c.2886G>T	c.(2884-2886)tgG>tgT	p.W962C	INPPL1_ENST00000538751.1_Missense_Mutation_p.W962C|INPPL1_ENST00000298229.2_Missense_Mutation_p.W1204C			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1204	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.W1204C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAGTGCCTGGCTGCGGGCCA	0.706000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	11					0.00244969	0.00260045	0.020292	1	0
LDLR	3949	broad.mit.edu	37	19	11230871	11230871	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:11230871A>T	ENST00000558518.1	+	13	2136	c.1949A>T	c.(1948-1950)gAg>gTg	p.E650V	LDLR_ENST00000455727.2_Missense_Mutation_p.E482V|LDLR_ENST00000535915.1_Missense_Mutation_p.E609V|LDLR_ENST00000545707.1_Missense_Mutation_p.E523V|LDLR_ENST00000558013.1_Missense_Mutation_p.E650V|LDLR_ENST00000557933.1_Missense_Mutation_p.E650V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	650					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.E650V(1)|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)	CTGTCCCCAGAGGATATGGTT	0.502000													26	21					0	0	0.027356	0	0
RYR2	6262	broad.mit.edu	37	1	237843841	237843841	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:237843841G>T	ENST00000366574.2	+	62	9298	c.8981G>T	c.(8980-8982)gGa>gTa	p.G2994V	RYR2_ENST00000360064.6_Missense_Mutation_p.G2992V|RYR2_ENST00000542537.1_Missense_Mutation_p.G2978V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2994	Modulator (Potential).				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	p.G2992V(1)		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)			TGCTCTGGAGGACATGCTTCC	0.373000													8	29					0.000157383	0.000169679	0.003080	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443901	5443901	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:5443901G>A	ENST00000300778.4	+	1	561	c.471G>A	c.(469-471)gcG>gcA	p.A157A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157A(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTTCTGGCGGTTCTTCCCT	0.527000													11	291					0	0	0.008740	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002465	69002465	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:69002465C>A	ENST00000295381.3	+	2	593	c.174C>A	c.(172-174)tcC>tcA	p.S58S	ARHGAP25_ENST00000467265.1_Silent_p.S58S|ARHGAP25_ENST00000544262.1_Silent_p.S32S|ARHGAP25_ENST00000409202.3_Silent_p.S58S|ARHGAP25_ENST00000409220.1_Silent_p.S51S|ARHGAP25_ENST00000497079.1_Silent_p.S51S|ARHGAP25_ENST00000409030.3_Silent_p.S51S|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	58	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S58S(1)|p.S51S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGCAGAGGTCCATCGTGAAGA	0.587000													48	247					3.21987e-24	5.19091e-24	0.014410	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935925	151935925	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:151935925C>A	ENST00000393902.3	-	3	809	c.242G>T	c.(241-243)aGc>aTc	p.S81I	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S81I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	81								p.S81I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGGATTGGCTCCAGAGAGG	0.612000													19	10					5.45024e-15	7.70628e-15	0.018920	1	0
SLC6A17	388662	broad.mit.edu	37	1	110734729	110734729	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:110734729G>T	ENST00000331565.4	+	7	1485	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	334					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.A334S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTCGATGCCGCCCTGGTGTC	0.537000													18	26					4.59853e-10	5.74816e-10	0.027356	1	0
NRF1	4899	broad.mit.edu	37	7	129348982	129348982	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:129348982G>T	ENST00000393232.1	+	6	791	c.674G>T	c.(673-675)gGg>gTg	p.G225V	NRF1_ENST00000393231.3_Missense_Mutation_p.G225V|NRF1_ENST00000539636.1_Missense_Mutation_p.G64V|NRF1_ENST00000311967.2_Missense_Mutation_p.G225V|NRF1_ENST00000223190.4_Missense_Mutation_p.G225V|NRF1_ENST00000353868.4_Missense_Mutation_p.G225V|NRF1_ENST00000393230.2_Missense_Mutation_p.G225V	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	225					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.G225V(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCTGGGGGAAAGAAAGC	0.527000													135	306					2.74189e-85	5.19753e-85	0.014410	1	0
RAD54B	25788	broad.mit.edu	37	8	95390503	95390503	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:95390503T>C	ENST00000336148.5	-	14	2544	c.2420A>G	c.(2419-2421)gAa>gGa	p.E807G		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	p.E807G(1)		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)			TTTAAGTTCTTCTACTGAAAA	0.378000								Direct reversal of damage;Homologous recombination					17	37					0	0	0.028581	0	0
GTPBP10	85865	broad.mit.edu	37	7	90003668	90003668	+	Splice_Site	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:90003668G>T	ENST00000222511.6	+	6	657	c.591_splice	c.e6+1	p.Q197_splice	GTPBP10_ENST00000257659.8_Splice_Site_p.Q118_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	197					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	p.Q197H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ATTTCAAACAGGTAGGTATTT	0.313000													30	58					5.77227e-19	8.73436e-19	0.008361	1	0
OR10J3	441911	broad.mit.edu	37	1	159284326	159284326	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:159284326C>T	ENST00000332217.5	-	1	123	c.124G>A	c.(124-126)Ggc>Agc	p.G42S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G42S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATCACATTGCCAGAGAGAGTC	0.468000													106	338					0	0	0.014410	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178542	32178542	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:32178542C>A	ENST00000375023.3	-	18	2990	c.2852G>T	c.(2851-2853)gGg>gTg	p.G951V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	951	EGF-like 24.				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.G951V(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						GCAGAGATACCCACTGGGCTG	0.607000													37	126					9.73076e-26	1.62179e-25	0.027894	1	0
ART5	116969	broad.mit.edu	37	11	3661436	3661436	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:3661436A>G	ENST00000397068.3	-	2	615	c.223T>C	c.(223-225)Tgg>Cgg	p.W75R	ART5_ENST00000359918.4_Missense_Mutation_p.W75R|ART5_ENST00000397067.3_Missense_Mutation_p.W75R	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	75						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.W75R(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCCTCCCAGGTCTCCTGG	0.577000													21	73					0	0	0.018920	0	0
AKT3	10000	broad.mit.edu	37	1	243809238	243809238	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:243809238C>T	ENST00000366539.1	-	5	586	c.386G>A	c.(385-387)gGa>gAa	p.G129E	AKT3_ENST00000263826.5_Missense_Mutation_p.G129E|AKT3_ENST00000336199.5_Missense_Mutation_p.G129E|AKT3_ENST00000366540.1_Missense_Mutation_p.G129E			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	129					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.G129E(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCTTCCTCTCCTATATTATC	0.393000													7	176					0	0	0.004482	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													4	165					0	0	0.009096	0	0
SCN3A	6328	broad.mit.edu	37	2	165984179	165984179	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:165984179C>T	ENST00000360093.3	-	18	3846	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1070K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1119K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1119						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1070K(1)|p.E1119K(1)		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)	CTGCTGAACTCTTCAGTATTT	0.358000													16	107					0	0	0.004990	0	0
SC5D	6309	broad.mit.edu	37	11	121174140	121174140	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:121174140C>T	ENST00000264027.4	+	2	430	c.56C>T	c.(55-57)cCa>cTa	p.P19L	SC5D_ENST00000392789.2_Missense_Mutation_p.P19L|SC5D_ENST00000534230.1_Missense_Mutation_p.P19L	NM_006918.4	NP_008849.2			sterol-C5-desaturase									p.P19L(1)									TACGTGTATCCAGCCACATGG	0.388000													21	122					0	0	0.018920	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560052	44560052	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:44560052C>A	ENST00000332567.4	-	1	1936	c.1584G>T	c.(1582-1584)acG>acT	p.T528T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	528	Activation domain (By similarity).|Interacting with Elongin BC complex (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.T528T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTGGCGCAGCGTCGGCACCT	0.612000													19	129					5.61819e-17	8.21303e-17	0.027356	1	0
ZNF404	342908	broad.mit.edu	37	19	44377779	44377779	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:44377779A>T	ENST00000587539.1	-	3	586	c.587T>A	c.(586-588)tTt>tAt	p.F196Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.F194Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F194Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATAAAACCTAAAGGCCTTCTC	0.373000													35	47					0	0	0.015359	0	0
OR7A17	26333	broad.mit.edu	37	19	14991993	14991993	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:14991993T>A	ENST00000327462.2	-	1	271	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M59L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAGAAGTACATGGGGGTGTGG	0.498000													29	31					0	0	0.010818	0	0
OR10J5	127385	broad.mit.edu	37	1	159504984	159504984	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:159504984C>A	ENST00000334857.2	-	1	858	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V272F(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ACTGAGAGAACAAGGTCTTTT	0.488000													41	133					7.53189e-24	1.20861e-23	0.007835	1	0
MRPL35	51318	broad.mit.edu	37	2	86437740	86437740	+	Silent	SNP	C	C	T	rs1052060		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:86437740C>T	ENST00000337109.4	+	4	550	c.516C>T	c.(514-516)taC>taT	p.Y172Y	MRPL35_ENST00000605125.1_3'UTR|MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	172					translation	mitochondrial ribosome	structural constituent of ribosome	p.Y172Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GAAACTGGTACGTTGATGATC	0.373000													34	73					0	0	0.025465	0	0
VENTX	27287	broad.mit.edu	37	10	135051638	135051638	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:135051638G>A	ENST00000325980.9	+	1	731	c.220G>A	c.(220-222)Gcg>Acg	p.A74T		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	74					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A74T(1)		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)		AAATCTGCCTGCGCCGGAGAG	0.726000													5	17					0	0	0.021553	0	0
OR8B8	26493	broad.mit.edu	37	11	124310257	124310257	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:124310257C>A	ENST00000328064.2	-	1	797	c.725G>T	c.(724-726)aGc>aTc	p.S242I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TATGTGGGAGCTGCAGGTGCT	0.488000													30	135					1.88708e-17	2.78224e-17	0.008361	1	0
GPR148	344561	broad.mit.edu	37	2	131486901	131486901	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:131486901G>T	ENST00000309926.4	+	1	259	c.177G>T	c.(175-177)ctG>ctT	p.L59L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	59				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L59L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAAGCCTGCTGGCTGCAGCCA	0.642000													7	30					5.50884e-06	6.17061e-06	0.013537	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													6	194					0	0	0.003080	0	0
LRFN5	145581	broad.mit.edu	37	14	42356688	42356688	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:42356688C>A	ENST00000554171.1	+	5	3292	c.860C>A	c.(859-861)cCt>cAt	p.P287H	LRFN5_ENST00000298119.4_Missense_Mutation_p.P287H|LRFN5_ENST00000554120.1_Missense_Mutation_p.P287H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	287	Ig-like.					integral to membrane		p.P287H(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)		TGTGAGCCTCCTCTCATTACT	0.498000										HNSCC(30;0.082)			54	137					5.22555e-25	8.62591e-25	0.014410	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560065	44560065	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:44560065A>C	ENST00000332567.4	-	1	1923	c.1571T>G	c.(1570-1572)cTc>cGc	p.L524R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	524	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.L524R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGCACCTGGAGCTGGCAGGC	0.612000													18	129					0	0	0.008361	0	0
GPR112	139378	broad.mit.edu	37	X	135431775	135431775	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:135431775C>T	ENST00000394143.1	+	6	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_ENST00000412101.1_Silent_p.D1765D|GPR112_ENST00000287534.4_Silent_p.D1907D|GPR112_ENST00000394141.1_Silent_p.D1765D|GPR112_ENST00000370652.1_Silent_p.D1970D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1970D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGCTGACGTTAAGCACA	0.413000													5	103					0	0	0.014758	0	0
NUP93	9688	broad.mit.edu	37	16	56875616	56875616	+	Splice_Site	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:56875616G>T	ENST00000564887.1	+	19	2480		c.e19-1		NUP93_ENST00000308159.5_Splice_Site|NUP93_ENST00000569842.1_Splice_Site|NUP93_ENST00000542526.1_Splice_Site	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.?(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCTCTATGTAGATCAGGCACA	0.517000													39	206					1.22674e-20	1.91505e-20	0.008740	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791330	50791330	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:50791330C>T	ENST00000263046.4	+	3	485	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Silent_p.L98L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	98	Gln/Pro-rich (transactivation domain).				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	p.L98L(1)		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)					CCTGAACCCACTGCACCAGCC	0.682000													25	41					0	0	0.006320	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406232	33406232	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:33406232C>T	ENST00000418600.2	+	9	1524	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R416W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R475W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	475	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	p.R460W(1)|p.R475W(1)		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						TGAGGTAGACCGGTTCATGGA	0.498000													33	226					0	0	0.021022	0	0
KIF25	3834	broad.mit.edu	37	6	168434609	168434609	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:168434609G>C	ENST00000443060.2	+	5	606	c.215G>C	c.(214-216)aGc>aCc	p.S72T	KIF25_ENST00000351261.3_Missense_Mutation_p.S72T|KIF25_ENST00000354419.2_Missense_Mutation_p.S72T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	72	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.S72T(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCGGAAAGAGCTATACCATG	0.517000													26	65					0	0	0.027356	0	0
ALOX15	246	broad.mit.edu	37	17	4536594	4536594	+	Missense_Mutation	SNP	C	C	A	rs61099320		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:4536594C>A	ENST00000570836.1	-	11	1361	c.1265G>T	c.(1264-1266)gGg>gTg	p.G422V	ALOX15_ENST00000293761.3_Missense_Mutation_p.G422V|ALOX15_ENST00000574640.1_Missense_Mutation_p.G383V|ALOX15_ENST00000545513.1_Missense_Mutation_p.G444V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	422	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.G422V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTGGCCTCCCCCACCAGTGCT	0.587000													17	35					4.96729e-08	5.78958e-08	0.008871	1	0
ZNF521	25925	broad.mit.edu	37	18	22805482	22805482	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:22805482G>A	ENST00000361524.3	-	4	2548	c.2400C>T	c.(2398-2400)tgC>tgT	p.C800C	ZNF521_ENST00000538137.2_Silent_p.C800C|ZNF521_ENST00000584787.1_Silent_p.C580C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	800					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.C800C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGTGATGTGGCATTGCAGCT	0.463000			T	PAX5	ALL								50	140					0	0	0.014410	0	0
CYP27C1	339761	broad.mit.edu	37	2	127952938	127952938	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:127952938A>G	ENST00000335247.7	-	5	822	c.692T>C	c.(691-693)gTc>gCc	p.V231A	CYP27C1_ENST00000409327.1_Missense_Mutation_p.V231A	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	231						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V231A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAGAGCTCTGACCAGCGGGAC	0.527000													28	54					0	0	0.008361	0	0
MMP16	4325	broad.mit.edu	37	8	89086945	89086945	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:89086945G>T	ENST00000286614.6	-	7	1391	c.1110C>A	c.(1108-1110)aaC>aaA	p.N370K	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	370	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.N370K(1)		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						TCACCCTGTTGTTTCTCACTC	0.498000													54	124					2.69953e-25	4.47759e-25	0.014410	1	0
PRLHR	2834	broad.mit.edu	37	10	120353661	120353661	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:120353661C>T	ENST00000239032.2	-	2	1234	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	PRLHR_ENST00000369169.1_Missense_Mutation_p.V366I	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	366	Required for interaction with GRIP1, GRIP2 and PICK1.				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.V366I(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACCACGCTGACGGTCATATTC	0.582000													19	63					0	0	0.012319	0	0
COX16	51241	broad.mit.edu	37	14	70793067	70793067	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:70793067T>A	ENST00000389912.6	-	4	447	c.304A>T	c.(304-306)Aag>Tag	p.K102*	COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)									p.K102*(1)		large_intestine(1)|lung(2)	3						GTCTTAGTCTTAAGGCTTTCT	0.348000													3	9					0	0	0.004672	0	0
CFC1	55997	broad.mit.edu	37	2	131356232	131356232	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:131356232G>T	ENST00000259216.4	-	3	492	c.230C>A	c.(229-231)tCc>tAc	p.S77Y		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	77					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane		p.S77Y(1)		endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GAAAGCCCGGGAGTAGGGGAG	0.607000													9	66					3.32936e-07	3.80341e-07	0.006122	1	0
CDH24	64403	broad.mit.edu	37	14	23523778	23523778	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:23523778C>T	ENST00000397359.3	-	5	980	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	CDH24_ENST00000267383.5_Missense_Mutation_p.G241S|CDH24_ENST00000554034.1_Missense_Mutation_p.G241S|CDH24_ENST00000487137.2_Missense_Mutation_p.G241S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	241	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	p.G241S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTAGTGCTGCCTGACAGCCCC	0.607000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	43					0	0	0.008871	0	0
ERBB3	2065	broad.mit.edu	37	12	56479039	56479039	+	Silent	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:56479039A>T	ENST00000411731.2	+	3	659	c.495A>T	c.(493-495)ccA>ccT	p.P165P	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000267101.3_Intron	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	0					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P165P(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATGATGACCCAAGACTGCTCA	0.587000													17	31					0	0	0.007413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882330	228882330	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:228882330G>T	ENST00000392056.3	-	7	3286	c.3240C>A	c.(3238-3240)gcC>gcA	p.A1080A	SPHKAP_ENST00000344657.5_Silent_p.A1080A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1080						cytoplasm	protein binding	p.A1080A(2)		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)		CGCAGCTGGAGGCCTTCAGCC	0.612000													17	32					4.35082e-09	5.24836e-09	0.010504	1	0
FANCD2	2177	broad.mit.edu	37	3	10106488	10106488	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:10106488C>T	ENST00000287647.3	+	23	2190	c.2097C>T	c.(2095-2097)ctC>ctT	p.L699L	FANCD2_ENST00000419585.1_Silent_p.L699L|FANCD2_ENST00000383807.1_Silent_p.L699L|FANCD2_ENST00000383806.1_Silent_p.L699L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	699					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.L699L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCATAAACCTCCTGCCGCTGC	0.463000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				37	102					0	0	0.007835	0	0
OR2M4	26245	broad.mit.edu	37	1	248402357	248402357	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:248402357A>T	ENST00000306687.1	+	1	127	c.127A>T	c.(127-129)Att>Ttt	p.I43F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I43F(1)		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)			GATGGAAAATATTTCCATGGT	0.483000													71	228					0	0	0.014410	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310714	61310714	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:61310714C>T	ENST00000341074.5	-	2	213	c.98G>A	c.(97-99)aGc>aAc	p.S33N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S33N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S33N(1)		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						TGATGTGATGCTGATAGGGGA	0.423000													83	164					0	0	0.014410	0	0
NALCN	259232	broad.mit.edu	37	13	101777019	101777019	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr13:101777019A>T	ENST00000251127.6	-	18	2213	c.2132T>A	c.(2131-2133)gTt>gAt	p.V711D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	711						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.V711D(1)		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)					GATGCTGAAAACAGACTTGCG	0.333000													64	161					0	0	0.014410	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088847	220088847	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:220088847G>T	ENST00000366926.3	-	4	1563	c.1402C>A	c.(1402-1404)Caa>Aaa	p.Q468K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q223K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	468					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.Q468K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTAAGACTTTGTCCGTGGTCA	0.443000													220	261					2.02462e-70	3.79617e-70	0.014410	1	0
GBA3	57733	broad.mit.edu	37	4	22748924	22748924	+	RNA	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:22748924G>T	ENST00000511446.1	+	0	295				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.D98Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTAGGAATTGATTATTACAA	0.333000													16	146					0.00400662	0.00421429	0.028581	1	0
SUSD5	26032	broad.mit.edu	37	3	33194357	33194357	+	Silent	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:33194357C>A	ENST00000309558.3	-	5	2184	c.1767G>T	c.(1765-1767)ctG>ctT	p.L589L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	589					cell adhesion	integral to membrane	hyaluronic acid binding	p.L589L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCACACCTGCCAGGAGCAGCA	0.622000													16	31					1.96292e-10	2.47156e-10	0.010504	1	0
FNDC7	163479	broad.mit.edu	37	1	109271373	109271373	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:109271373C>G	ENST00000370017.3	+	8	1766	c.1489C>G	c.(1489-1491)Ctg>Gtg	p.L497V	FNDC7_ENST00000271311.2_Missense_Mutation_p.L498V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	498	Fibronectin type-III 6.					extracellular region		p.L264V(1)|p.L497V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGAGAAAGGACTGTATCAGTG	0.522000													28	44					0	0	0.017118	0	0
ADCY8	114	broad.mit.edu	37	8	131833668	131833668	+	Splice_Site	SNP	T	T	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:131833668T>C	ENST00000286355.5	-	13	4768		c.e13-2		ADCY8_ENST00000377928.3_Splice_Site	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						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	p.?(1)		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)			AGGAAATCTCTGTTGGAAGAA	0.443000										HNSCC(32;0.087)			17	27					0	0	0.028581	0	0
RC3H1	149041	broad.mit.edu	37	1	173953758	173953758	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:173953758C>A	ENST00000367696.2	-	3	583		c.e3-1		RC3H1_ENST00000367694.2_Splice_Site|RC3H1_ENST00000258349.4_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTCAGGGACCTGGAGGCCAA	0.368000													42	48					2.51966e-14	3.50517e-14	0.014410	1	0
DRD5	1816	broad.mit.edu	37	4	9784739	9784739	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:9784739C>G	ENST00000304374.2	+	1	1482	c.1086C>G	c.(1084-1086)aaC>aaG	p.N362K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	362					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.N362K(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATGCCTTCAACGCCGACTTTC	0.602000													26	54					0	0	0.024334	0	0
INHBA	3624	broad.mit.edu	37	7	41729879	41729879	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:41729879G>C	ENST00000242208.4	-	3	896	c.650C>G	c.(649-651)aCc>aGc	p.T217S	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.T217S|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	217					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.T217S(1)|p.T217I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACATGCCAGGTGCTCTTCCG	0.582000										TSP Lung(11;0.080)			19	40					0	0	0.010504	0	0
ZNF862	643641	broad.mit.edu	37	7	149545230	149545230	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:149545230G>T	ENST00000223210.4	+	4	893	c.648G>T	c.(646-648)cgG>cgT	p.R216R		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R216R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGGCAGCCCGGTTCCGGAGCA	0.602000													8	58					1.33987e-11	1.74436e-11	0.008291	1	0
NEUROD4	58158	broad.mit.edu	37	12	55421178	55421178	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:55421178C>G	ENST00000242994.3	+	2	1333	c.955C>G	c.(955-957)Cat>Gat	p.H319D		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	319					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.H319D(1)		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						CTACCCCCATCATGGTATTGG	0.443000													284	371					0	0	0.014410	0	0
GREB1	9687	broad.mit.edu	37	2	11733004	11733004	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:11733004C>A	ENST00000381486.2	+	11	1748	c.1448C>A	c.(1447-1449)cCg>cAg	p.P483Q	GREB1_ENST00000234142.5_Missense_Mutation_p.P483Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	483						integral to membrane		p.P483K(1)		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)		CAGGCGCCGCCGCAGCCCTTC	0.726000													4	4					4.096e-09	4.97577e-09	0.021553	1	0
PAXBP1	94104	broad.mit.edu	37	21	34117919	34117919	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr21:34117919G>A	ENST00000331923.4	-	12	2223	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	PAXBP1_ENST00000290178.4_Silent_p.T678T	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.T678T(1)									TTTCCACAATGGTAGGTAGTA	0.378000													65	180					0	0	0.014410	0	0
BTNL9	153579	broad.mit.edu	37	5	180477326	180477326	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:180477326T>A	ENST00000327705.9	+	4	924	c.693T>A	c.(691-693)aaT>aaA	p.N231K	BTNL9_ENST00000515271.1_Missense_Mutation_p.N162K|BTNL9_ENST00000376841.2_Missense_Mutation_p.N231K|BTNL9_ENST00000376842.3_Missense_Mutation_p.N231K	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	231						integral to membrane		p.N231K(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-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)			CCATCCAGAATCTCCTCTTGA	0.522000													48	91					0	0	0.014410	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													6	189					0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668278	176668278	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:176668278C>A	ENST00000367662.3	+	8	3953	c.2789C>A	c.(2788-2790)gCc>gAc	p.A930D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	930					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.A930D(1)		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						AGCTTACAGGCCTGGAGCCCT	0.557000													38	146					4.14481e-20	6.32725e-20	0.025465	1	0
FAM71C	196472	broad.mit.edu	37	12	100042185	100042185	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:100042185C>A	ENST00000324341.1	+	1	655	c.233C>A	c.(232-234)cCc>cAc	p.P78H	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	78								p.P78H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CGCACCAGCCCCTGCCTCACA	0.542000													37	46					2.9001e-28	4.90458e-28	0.014410	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291456	5291456	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:5291456C>G	ENST00000357006.4	-	4	1089	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E251Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14									p.E251Q(1)									GGTGTCTGTTCATCTTTCACT	0.498000													23	91					0	0	0.016522	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541745	133541745	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:133541745C>A	ENST00000409261.1	-	14	3012	c.2639G>T	c.(2638-2640)aGc>aTc	p.S880I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S880I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	880							protein binding	p.S880I(1)		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						GTCCCTCCTGCTGGGCATCCT	0.567000													17	104					2.94398e-08	3.46646e-08	0.007413	1	0
SLC9C2	284525	broad.mit.edu	37	1	173478718	173478718	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:173478718G>T	ENST00000367714.3	-	24	3450	c.3028C>A	c.(3028-3030)Ctt>Att	p.L1010I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1010					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.L1010I(1)									TCATCAATAAGACTTGATTCA	0.284000													11	13					6.40141e-05	7.01107e-05	0.010729	1	0
PARD3B	117583	broad.mit.edu	37	2	205986568	205986568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:205986568C>T	ENST00000406610.2	+	8	1267	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R354*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R354*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R354*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R354*	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	354					cell cycle|cell division	endomembrane system|tight junction		p.R354*(2)|p.R355*(1)		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)		CAAGAGTCCCCGAGTACCAAG	0.458000													22	51					0	0	0.006320	0	0
ZRANB3	84083	broad.mit.edu	37	2	136033319	136033319	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr2:136033319C>T	ENST00000401392.1	-	9	1185	c.973G>A	c.(973-975)Gct>Act	p.A325T	ZRANB3_ENST00000536680.1_Missense_Mutation_p.A325T|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A325T			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	325	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.A325T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TCCTTTACAGCACCTGCCTAA	0.303000													5	12					0	0	0.021553	0	0
C11orf35	256329	broad.mit.edu	37	11	558709	558709	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:558709T>G	ENST00000329451.3	-	3	278	c.216A>C	c.(214-216)gaA>gaC	p.E72D	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	72								p.E72D(1)		NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATCTCCAGTTCTCGCTGTC	0.662000													4	15					0	0	0.014758	0	0
ABCC11	85320	broad.mit.edu	37	16	48249206	48249206	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:48249206A>T	ENST00000394747.1	-	7	1350	c.1001T>A	c.(1000-1002)gTc>gAc	p.V334D	ABCC11_ENST00000353782.5_Missense_Mutation_p.V334D|ABCC11_ENST00000356608.2_Missense_Mutation_p.V334D|ABCC11_ENST00000537808.1_Missense_Mutation_p.V334D|ABCC11_ENST00000394748.1_Missense_Mutation_p.V334D	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	334	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V334D(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGGTCGCTGACCTCAGATGT	0.453000													16	44					0	0	0.024245	0	0
LOC101928344	101928344	broad.mit.edu	37	1	243251439	243251439	+	RNA	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:243251439T>A	ENST00000417964.1	-	0	663																											aaaaaaaaaaTTCCTTTGGGA	0.458000													3	7					0	0	0.004672	0	0
OR2M4	26245	broad.mit.edu	37	1	248402564	248402564	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:248402564T>A	ENST00000306687.1	+	1	334	c.334T>A	c.(334-336)Tgt>Agt	p.C112S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112S(1)		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)			TGGAGCTGAATGTTTCTTGTT	0.453000													4	169					0	0	0.014758	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574291	140574291	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:140574291C>T	ENST00000239446.4	+	1	2350	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		722					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A722A(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGGCGGCCTCGGTGGGTC	0.662000													41	46					0	0	0.014410	0	0
ZNF184	7738	broad.mit.edu	37	6	27419486	27419486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:27419486C>A	ENST00000211936.6	-	6	2136	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.E618*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E618*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACCACACTCAGCACACTCA	0.403000													115	152					3.41951e-42	5.98848e-42	0.014410	1	0
OLFML1	283298	broad.mit.edu	37	11	7531000	7531000	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:7531000C>A	ENST00000329293.3	+	3	1184	c.790C>A	c.(790-792)Cac>Aac	p.H264N	OLFML1_ENST00000530135.1_Missense_Mutation_p.H264N|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	264	Olfactomedin-like.					extracellular region		p.H264N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTTTACCAGCACTCCCCCTC	0.512000													20	53					4.35082e-09	5.24836e-09	0.010504	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3591921	3591921	+	Splice_Site	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:3591921T>A	ENST00000550383.1	-	8	1074	c.887_splice	c.e8+1	p.R296_splice	P2RX5_ENST00000552276.1_Splice_Site_p.R295_splice|P2RX5_ENST00000435558.1_Splice_Site_p.R296_splice|P2RX5_ENST00000552050.1_Splice_Site_p.R236_splice|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Splice_Site_p.R295_splice|P2RX5_ENST00000551178.1_Splice_Site_p.R271_splice|P2RX5_ENST00000345901.3_Splice_Site_p.R272_splice|P2RX5_ENST00000225328.5_Splice_Site_p.R296_splice														p.R296*(1)									AGCGGTTACCTGAAGTTGTAC	0.527000													11	100					0	0	0.016723	0	0
SF3B2	10992	broad.mit.edu	37	11	65827268	65827268	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:65827268G>T	ENST00000528302.1	+	12	1420	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	SF3B2_ENST00000322535.6_Missense_Mutation_p.D473Y			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	473					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.D473Y(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTCGGCCCGATGTCGTGGA	0.552000													24	54					5.45727e-16	7.84482e-16	0.008361	1	0
VPS13C	54832	broad.mit.edu	37	15	62232961	62232961	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:62232961T>A	ENST00000261517.5	-	47	5559	c.5486A>T	c.(5485-5487)gAc>gTc	p.D1829V	VPS13C_ENST00000395896.4_Missense_Mutation_p.D1829V|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1786V|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1786V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1829					protein localization			p.D1829V(2)		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						AATTTCAATGTCATTTTGTGG	0.328000													9	58					0	0	0.004482	0	0
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					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)				CCTTTCAAGTGTAAGTCCACA	0.522000													7	411					1.12685e-05	1.25408e-05	0.004482	1	0
RP1	6101	broad.mit.edu	37	8	55539921	55539921	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:55539921C>A	ENST00000220676.1	+	4	3627	c.3479C>A	c.(3478-3480)aCa>aAa	p.T1160K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1160					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	p.T1160K(1)		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)			TCTTCAGAAACACTTGCATTG	0.423000													55	134					4.17328e-34	7.1631e-34	0.014410	1	0
PRKCI	5584	broad.mit.edu	37	3	170011269	170011269	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr3:170011269C>A	ENST00000295797.4	+	14	1695	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	464	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.Q455K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAACCCTGACCAGAACACAGA	0.423000													14	77					2.62699e-14	3.6398e-14	0.024245	1	0
AKT3	10000	broad.mit.edu	37	1	243663046	243663046	+	Nonstop_Mutation	SNP	T	T	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:243663046T>G	ENST00000336199.5	-	13	1462	c.1397A>C	c.(1396-1398)tAa>tCa	p.*466S	SDCCAG8_ENST00000366541.3_Intron|AKT3_ENST00000366540.1_Nonstop_Mutation_p.*466S|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Intron	NM_181690.2	NP_859029.1	Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	0	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.*466S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TACTTTTTATTATTTTTTCCA	0.328000													23	103					0	0	0.024334	0	0
PSG11	5680	broad.mit.edu	37	19	43528992	43528992	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:43528992G>T	ENST00000401740.1	-	2	384	c.281C>A	c.(280-282)gCa>gAa	p.A94E	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94E|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region		p.A94G(1)|p.A94E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCCACTGTATGCCGGTCCATA	0.438000													89	198					1.17562e-51	2.16893e-51	0.014410	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216113	140216113	+	Silent	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:140216113G>T	ENST00000525929.1	+	1	2145	c.2145G>T	c.(2143-2145)ctG>ctT	p.L715L	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L715L	NM_018910.2	NP_061733.1												p.L715L(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)			TGCTTACCCTGCTGCTGTACA	0.612000													23	110					1.12875e-08	1.35215e-08	0.006320	1	0
OLIG3	167826	broad.mit.edu	37	6	137814889	137814889	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:137814889G>C	ENST00000367734.2	-	1	642	c.419C>G	c.(418-420)tCc>tGc	p.S140C		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S140C(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTCCTCCAGGGAGCTGGTGAG	0.652000													17	58					0	0	0.014323	0	0
QRFPR	84109	broad.mit.edu	37	4	122261765	122261765	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr4:122261765C>A	ENST00000394427.2	-	2	752	c.340_splice	c.e2-1	p.G114_splice	QRFPR_ENST00000334383.5_Splice_Site_p.G114_splice	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	114						plasma membrane	neuropeptide Y receptor activity	p.G114V(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATGAAAGCACCTGCAGTAAG	0.413000													5	66					0.000602214	0.00064523	0.014758	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72138121	72138121	+	Silent	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:72138121A>G	ENST00000555818.1	+	8	2889	c.2541A>G	c.(2539-2541)ccA>ccG	p.P847P	SIPA1L1_ENST00000358550.2_Silent_p.P847P|SIPA1L1_ENST00000537413.1_Silent_p.P322P|SIPA1L1_ENST00000381232.3_Silent_p.P847P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	847					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.P847P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGTCTAAGCCATATCCAGGAG	0.507000													30	45					0	0	0.012213	0	0
PRKDC	5591	broad.mit.edu	37	8	48701799	48701799	+	Splice_Site	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:48701799C>A	ENST00000314191.2	-	76	10724	c.10667_splice	c.e76-1	p.R3556_splice	PRKDC_ENST00000338368.3_Splice_Site_p.R3556_splice|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3557					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.R3556S(1)|p.R3557S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACTTTTAATCCTATTTAAAA	0.254000								Non-homologous end-joining					10	16					0.000442599	0.000475691	0.006214	1	0
CEP128	145508	broad.mit.edu	37	14	80971348	80971348	+	Silent	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:80971348G>A	ENST00000555265.1	-	24	3463	c.3088C>T	c.(3088-3090)Ctg>Ttg	p.L1030L	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Silent_p.L1030L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1030						centriole|spindle pole		p.L1030L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAACCTTCCAGAAAGGTTCTG	0.423000													13	27					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113421166	113421166	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:113421166G>A	ENST00000297405.5	-	33	5735	c.5491C>T	c.(5491-5493)Ctc>Ttc	p.L1831F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1727F|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1791F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1831	CUB 10.					integral to membrane|plasma membrane		p.L1831F(1)|p.L1791F(1)		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						GATCCTGAGAGGGAAGATAAC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			79	201					0	0	0.014410	0	0
ADCY2	108	broad.mit.edu	37	5	7521012	7521012	+	Splice_Site	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:7521012G>C	ENST00000338316.4	+	3	659	c.570_splice	c.e3+1	p.Q190_splice		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	190				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	p.Q190H(1)		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						TGGTCTGGCAGGTGGGTGCAC	0.607000													28	82					0	0	0.007291	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	16					0	0	0.016723	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3805981	3805981	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr12:3805981C>G	ENST00000440314.2	-	4	658	c.185G>C	c.(184-186)tGt>tCt	p.C62S	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.C62S|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.C62S	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	62	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	p.C62S(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTCAGCATCACAGGTCTGAAA	0.567000													48	73					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3038645	3038645	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:3038645G>T	ENST00000520002.1	-	38	6270	c.5715C>A	c.(5713-5715)caC>caA	p.H1905Q	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.H1905Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.H1905Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.H1904Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.H1904Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.H1904Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.H1905Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1905	CUB 11.					integral to membrane		p.H1904Q(1)|p.H1633Q(1)		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)		TGTATTCCAGGTGGAAACCAG	0.398000													12	28					0.00244969	0.00260045	0.020292	1	0
MAGEB16	139604	broad.mit.edu	37	X	35820648	35820648	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chrX:35820648C>T	ENST00000399989.1	+	2	614	c.335C>T	c.(334-336)gCt>gTt	p.A112V	MAGEB16_ENST00000399987.1_Missense_Mutation_p.A112V|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A144V|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A112V|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A112V	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	112								p.A279V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCGCAGATGCTCTCGACCAG	0.433000													8	7					0	0	0.004482	0	0
LILRA1	11024	broad.mit.edu	37	19	55107244	55107244	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:55107244C>A	ENST00000251372.3	+	6	984	c.802C>A	c.(802-804)Ctc>Atc	p.L268I	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|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	268	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	p.L268I(1)		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)		CTTCCTCCAGCTCCCTGGCCC	0.602000													47	62					3.68337e-26	6.16876e-26	0.014410	1	0
FKBP6	8468	broad.mit.edu	37	7	72756838	72756838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:72756838G>T	ENST00000252037.4	+	8	994	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	FKBP6_ENST00000413573.2_Nonsense_Mutation_p.E279*|FKBP6_ENST00000431982.2_Nonsense_Mutation_p.E304*	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	309					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.E309*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TAAAGAGAAAGAAATGTGGCA	0.522000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	142					7.69131e-47	1.39658e-46	0.014410	1	0
RNF152	220441	broad.mit.edu	37	18	59483586	59483586	+	Silent	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr18:59483586C>T	ENST00000312828.3	-	2	1210	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	37					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.V37V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCTGCAGGCACACTGAACAGC	0.617000													33	48					0	0	0.025465	0	0
CEP128	145508	broad.mit.edu	37	14	81304608	81304608	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr14:81304608C>A	ENST00000555265.1	-	11	1239	c.864G>T	c.(862-864)ttG>ttT	p.L288F	CEP128_ENST00000216517.6_Missense_Mutation_p.L288F|CEP128_ENST00000281129.3_Missense_Mutation_p.L288F			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	288						centriole|spindle pole		p.L288F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAGATAGCTCCAATTCCTGTT	0.338000													23	95					1.10923e-09	1.37163e-09	0.016522	1	0
SH3TC2	79628	broad.mit.edu	37	5	148406827	148406827	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr5:148406827A>T	ENST00000538184.1	-	7	1997	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q	SH3TC2_ENST00000515425.1_Missense_Mutation_p.L823Q|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L816Q|SH3TC2_ENST00000394358.2_Missense_Mutation_p.L708Q			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	823							binding	p.L708Q(1)|p.L823Q(1)		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)			CAGGGAGCATAGCAGTGGCTC	0.557000													40	217					0	0	0.008740	0	0
MSANTD3	91283	broad.mit.edu	37	9	103213106	103213106	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:103213106A>G	ENST00000395067.2	+	3	957	c.686A>G	c.(685-687)gAg>gGg	p.E229G	MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Intron|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3									p.E229G(1)		endometrium(2)|lung(2)	4						ATAGAGCGAGAGTGTGAGATG	0.398000													21	47					0	0	0.012319	0	0
OR12D2	26529	broad.mit.edu	37	6	29364696	29364696	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr6:29364696G>C	ENST00000383555.2	+	1	281	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V74L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTACTCTACGGTGACACTGCC	0.458000													36	132					0	0	0.008740	0	0
OR51G1	79324	broad.mit.edu	37	11	4944840	4944840	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr11:4944840C>A	ENST00000321961.2	-	1	797	c.730G>T	c.(730-732)Gtc>Ttc	p.V244F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V244F(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATGAGAGACACAGGTGTTG	0.542000													42	59					3.05275e-18	4.5593e-18	0.013114	1	0
LAMB4	22798	broad.mit.edu	37	7	107708514	107708514	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr7:107708514C>T	ENST00000388781.3	-	19	2476	c.2393G>A	c.(2392-2394)tGc>tAc	p.C798Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.C798Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.C798Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	798	Laminin EGF-like 6.				cell adhesion	basement membrane		p.C798Y(1)		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						CCTGTCACAGCAGCGCCCGAC	0.567000													32	171					0	0	0.015359	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735015	37735015	+	Silent	SNP	A	A	T			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr8:37735015A>T	ENST00000330843.4	-	2	438	c.426T>A	c.(424-426)atT>atA	p.I142I	RAB11FIP1_ENST00000522727.1_5'UTR|RAB11FIP1_ENST00000287263.4_Silent_p.I142I|RAB11FIP1_ENST00000524118.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	142					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.I142I(1)		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)			TGTCAACCTCAATTTCTCCTC	0.428000													65	132					0	0	0.014410	0	0
S1PR1	1901	broad.mit.edu	37	1	101705235	101705236	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:101705235_101705236insCC	ENST00000305352.6	+	2	1070_1071	c.695_696insCC	c.(694-696)acgfs	p.T232fs		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	232					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AGGACTCGGAGCCGCCGCCTGA	0.545													29	78	---	---	---	---					
OR6F1	343169	broad.mit.edu	37	1	247876030	247876030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr1:247876030delG	ENST00000302084.2	-	1	75	c.28delC	c.(28-30)agfs	p.Q10fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	10					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)			AGAAAGTCCTGGGGCAGAGTT	0.453													113	143	---	---	---	---					
MELK	9833	broad.mit.edu	37	9	36665487	36665488	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr9:36665487_36665488delTA	ENST00000543751.1	+	13	1366_1367	c.1221_1222delTA	c.(1219-1224)tttgfs	p.FM407fs	MELK_ENST00000536329.1_Frame_Shift_Del_p.FM368fs|MELK_ENST00000545008.1_Frame_Shift_Del_p.FM368fs|MELK_ENST00000541717.1_Frame_Shift_Del_p.FM398fs|MELK_ENST00000538311.1_Frame_Shift_Del_p.FM245fs|MELK_ENST00000536987.1_Frame_Shift_Del_p.FM308fs|MELK_ENST00000298048.2_Frame_Shift_Del_p.FM439fs|MELK_ENST00000536860.1_Frame_Shift_Del_p.FM391fs	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	439						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAGAGTACTTTATGTTTCCTGA	0.356													14	100	---	---	---	---					
ZNF503-AS1	253264	broad.mit.edu	37	10	77089193	77089196	+	RNA	DEL	CTTT	CTTT	-	rs71024539		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr10:77089193_77089196delCTTT	ENST00000416398.1	+	0	262				RP11-399K21.11_ENST00000418818.2_lincRNA	NR_038223.1																						tccttccttcctttctttctttct	0.397													2	4	---	---	---	---					
NEDD4	4734	broad.mit.edu	37	15	56243739	56243739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr15:56243739delA	ENST00000435532.3	-	3	358	c.168delT	c.(166-168)ctfs	p.L56fs		NM_006154.2	NP_006145.2	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	0					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GCACACTTGTAAGAACTCCAT	0.264													2	4	---	---	---	---					
RP11-19N8.2	0	broad.mit.edu	37	16	33030488	33030489	+	RNA	INS	-	-	GAAG			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:33030488_33030489insGAAG	ENST00000567619.1	-	0	499																											aaggaaggaaagaaggaaggaa	0.426													3	5	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													2	4	---	---	---	---					
ABCA8	10351	broad.mit.edu	37	17	66903951	66903951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr17:66903951delG	ENST00000269080.2	-	16	2225	c.2088delC	c.(2086-2088)gcfs	p.A696fs	ABCA8_ENST00000586539.1_Frame_Shift_Del_p.A736fs|ABCA8_ENST00000430352.2_Frame_Shift_Del_p.A736fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	696						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)					CTGATAATTTGGCATCAGGGA	0.313													14	40	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207021	1207028	+	Frame_Shift_Del	DEL	CAGCCGCG	CAGCCGCG	-	rs121913324		TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr19:1207021_1207028delCAGCCGCG	ENST00000326873.7	+	1	1282_1289	c.109_116delCAGCCGCG	c.(109-117)cfs	p.QPR37fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	37					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Q37*(13)|p.?(3)|p.Q37L(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCATCTACCAGCCGCGCCGCAAGCGG	0.639	Q37*(A549_LUNG)|Q37*(NCIH460_LUNG)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			10	26	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885	by1000genomes	TCGA-73-4677-01A-01D-1265-08	TCGA-73-4677-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c03165-d534-425e-8370-d1f557b82fa2	65f2f212-22a1-432a-917b-61201c1b1866	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390									B melanoma antigen family, member 2															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)		TGACTGAGATGTAAGTTGTTGG	0.446													7	632	---	---	---	---