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
HLA-DQB2	3120	broad.mit.edu	37	6	32726907	32726907	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32726907C>T	ENST00000435145.2	-	3	427	c.364_splice	c.e3-1	p.V122_splice	HLA-DQB2_ENST00000437316.2_Splice_Site_p.V122_splice|HLA-DQB2_ENST00000411527.1_Splice_Site_p.V122_splice			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	122					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CTGTGGGCTCCACTGAGGGCA	0.542000													4	29					0	0	0.000602214	0	0
RANBP2	5903	broad.mit.edu	37	2	109384509	109384509	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:109384509C>T	ENST00000283195.6	+	20	7640	c.7514C>T	c.(7513-7515)cCa>cTa	p.P2505L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2505					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACAACACCAAAAGCAGTG	0.383000													104	176					0	0	0.000781405	0	0
PANK4	55229	broad.mit.edu	37	1	2452592	2452592	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:2452592C>T	ENST00000378466.3	-	3	382	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	PANK4_ENST00000435556.3_Missense_Mutation_p.G124R	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	124					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.G124W(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCCCGCCCCCGGTCGCCTGG	0.532000													30	93					0	0	0.00111076	0	0
XPO4	64328	broad.mit.edu	37	13	21436885	21436885	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:21436885G>A	ENST00000400602.2	-	3	323	c.288C>T	c.(286-288)ttC>ttT	p.F96F	XPO4_ENST00000255305.6_Silent_p.F96F|XPO4_ENST00000490513.1_5'UTR	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	96					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGTTAAAAGGAATGTTCGCA	0.428000													57	125					0	0	0.000781405	0	0
C9orf117	286207	broad.mit.edu	37	9	130475123	130475123	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:130475123G>A	ENST00000373295.2	+	7	1313	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Missense_Mutation_p.E74K	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	425										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCCCCACCAGGAGTCACAGTC	0.612000													8	11					0	0	0.000157383	0	0
FOXK1	221937	broad.mit.edu	37	7	4794141	4794141	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:4794141C>T	ENST00000328914.4	+	3	798	c.798C>T	c.(796-798)taC>taT	p.Y266Y	FOXK1_ENST00000446823.1_Silent_p.Y103Y	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	266					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCTCCAGTTACCGCTTTGTGC	0.622000													14	43					0	0	0.00121646	0	0
CWF19L2	143884	broad.mit.edu	37	11	107197668	107197668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:107197668G>A	ENST00000282251.5	-	18	2680	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	885							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGTCATATGGTTTCCACCAC	0.388000													8	26					0	0	0.000157383	0	0
CPA4	51200	broad.mit.edu	37	7	129950821	129950821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:129950821G>A	ENST00000222482.4	+	9	1016	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CPA4_ENST00000493259.1_Missense_Mutation_p.E226K|CPA4_ENST00000445470.2_Missense_Mutation_p.E297K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	330					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATGCCGAGGAACTCGTGAG	0.572000													51	82					0	0	0.000781405	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113513	117113513	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:117113513G>A	ENST00000310357.3	-	6	2594	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.S787F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.S683F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	858					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CACACTATGGGAAGAATAACT	0.443000													6	19					0	0	0.00116845	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386245	65386245	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65386245C>T	ENST00000355703.3	+	6	1951	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	471						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGAGGGCCCCCCATGGGGCT	0.662000													8	11					0	0	0.000442599	0	0
RHBDF1	64285	broad.mit.edu	37	16	112806	112806	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:112806G>A	ENST00000262316.6	-	6	904	c.762C>T	c.(760-762)ttC>ttT	p.F254F	RHBDF1_ENST00000454039.2_Silent_p.F254F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	254					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCTCATCGGGGAAATCAGTTG	0.622000													15	56					0	0	0.00074312	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													17	41					0	0	0.000566183	0	0
GINM1	116254	broad.mit.edu	37	6	149901026	149901026	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:149901026C>T	ENST00000367419.5	+	5	607	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		GGGGAGTACTCAGACATTCAA	0.348000													31	40					0	0	0.000339439	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000													3	17					0	0	0.000602214	0	0
ECE1	1889	broad.mit.edu	37	1	21564728	21564728	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:21564728G>A	ENST00000415912.2	-	11	1365	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	ECE1_ENST00000264205.6_Missense_Mutation_p.P427S|ECE1_ENST00000374893.6_Missense_Mutation_p.P430S|ECE1_ENST00000357071.4_Missense_Mutation_p.P418S|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.P430S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	430					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TTCCAGCGAGGAAGACAGGTC	0.562000													14	19					0	0	0.000219431	0	0
ZNF529	57711	broad.mit.edu	37	19	37038984	37038984	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:37038984G>A	ENST00000334116.7	-	6	771	c.161C>T	c.(160-162)aCt>aTt	p.T54I	ZNF529_ENST00000591340.1_Missense_Mutation_p.T159I	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	126	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CCGAGGTAAAGTAAGAGATTC	0.363000													36	84					0	0	0.00195071	0	0
GPR116	221395	broad.mit.edu	37	6	46826172	46826172	+	Silent	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:46826172A>G	ENST00000283296.7	-	17	3756	c.3468T>C	c.(3466-3468)taT>taC	p.Y1156Y	GPR116_ENST00000362015.4_Silent_p.Y1156Y|GPR116_ENST00000265417.7_Silent_p.Y1156Y|GPR116_ENST00000545669.1_Silent_p.Y585Y|GPR116_ENST00000456426.2_Silent_p.Y1014Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1156					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCTTCCTCGTATAGACTTCCC	0.562000													14	22					0	0	0.00185496	0	0
KIAA0195	9772	broad.mit.edu	37	17	73490710	73490710	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:73490710G>A	ENST00000314256.7	+	19	2804	c.2410G>A	c.(2410-2412)Ggg>Agg	p.G804R	KIAA0195_ENST00000579208.1_Missense_Mutation_p.G455R|KIAA0195_ENST00000375248.5_Missense_Mutation_p.G814R	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	804					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGAAGAAGGGATCGGGGA	0.597000													5	28					0	0	0.00116845	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364159	23364159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:23364159G>T	ENST00000343070.2	+	3	525	c.349G>T	c.(349-351)Gag>Tag	p.E117*	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Nonsense_Mutation_p.E162*|SCNN1B_ENST00000568085.1_Nonsense_Mutation_p.E117*|SCNN1B_ENST00000568923.1_Nonsense_Mutation_p.E117*	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	117					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGACCTGGATGAGCTGATGGA	0.507000													31	85					2.08457e-15	1.33455e-14	0.000339439	1	0
SLC24A1	9187	broad.mit.edu	37	15	65943235	65943235	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:65943235C>T	ENST00000261892.6	+	7	3035	c.2748C>T	c.(2746-2748)ccC>ccT	p.P916P	SLC24A1_ENST00000537259.1_Silent_p.P898P|SLC24A1_ENST00000546330.1_Silent_p.P898P|SLC24A1_ENST00000399033.4_Silent_p.P916P|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_Silent_p.P802P|SLC24A1_ENST00000339868.6_Silent_p.P898P	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	916					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTTCTGCCCATCGTGTTCC	0.577000													12	58					0	0	0.00136819	0	0
NAA25	80018	broad.mit.edu	37	12	112481007	112481007	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:112481007G>A	ENST00000261745.4	-	19	2507	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	753						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGGACCAAGGAAAGGATACT	0.353000													15	55					0	0	0.000308642	0	0
ZNF641	121274	broad.mit.edu	37	12	48738490	48738490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:48738490G>A	ENST00000544117.2	-	5	1162	c.454C>T	c.(454-456)Cca>Tca	p.P152S	ZNF641_ENST00000547026.1_Missense_Mutation_p.P138S|ZNF641_ENST00000448928.3_Missense_Mutation_p.P129S|ZNF641_ENST00000301042.3_Missense_Mutation_p.P152S			Q96N77	ZN641_HUMAN	zinc finger protein 641	152	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTGGGAATTGGAAATCCTGCT	0.408000													38	28					0	0	0.000509022	0	0
CCDC91	55297	broad.mit.edu	37	12	28459758	28459758	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:28459758C>T	ENST00000545336.1	+	8	770	c.351C>T	c.(349-351)gcC>gcT	p.A117A	CCDC91_ENST00000381259.1_Silent_p.A117A|CCDC91_ENST00000381256.1_Silent_p.A117A|CCDC91_ENST00000539107.1_Silent_p.A117A|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.A87A			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	117					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GAACAATTGCCCTTGTGGATG	0.358000													4	10					0	0	0.000602214	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670891	116670891	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:116670891C>T	ENST00000369500.3	+	6	1051	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	262										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GTTTTCAGGTCATGAGGCACC	0.562000													16	27					0	0	0.000422831	0	0
PRG3	10394	broad.mit.edu	37	11	57145277	57145277	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:57145277C>T	ENST00000287143.2	-	5	649	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	180	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.G180G(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGTGGCTCCCATCAGTCC	0.567000													15	26					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179576050	179576050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179576050G>A	ENST00000589042.1	-	97	28137	c.27913C>T	c.(27913-27915)Cga>Tga	p.R9305*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R8061*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R8988*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8988	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAATTGTCGAGAAAATGAT	0.348000													13	27					0	0	0.00185496	0	0
GPR97	222487	broad.mit.edu	37	16	57719839	57719839	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57719839G>A	ENST00000333493.4	+	11	1701		c.e11+1		GPR97_ENST00000327655.6_Splice_Site|GPR97_ENST00000450388.3_Splice_Site|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTGCAAGGTGAGGCCCCT	0.587000													31	74					0	0	0.00058488	0	0
NRXN1	9378	broad.mit.edu	37	2	50724557	50724557	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:50724557G>A	ENST00000404971.1	-	15	4252	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.F931F|NRXN1_ENST00000406859.3_Silent_p.F931F|NRXN1_ENST00000402717.3_Silent_p.F923F|NRXN1_ENST00000406316.2_Silent_p.F931F|NRXN1_ENST00000405472.3_Silent_p.F923F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	931	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTGAACTGGAAAAAAAGAT	0.403000													17	23					0	0	0.000422831	0	0
ARID1B	57492	broad.mit.edu	37	6	157521929	157521929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:157521929C>T	ENST00000346085.5	+	18	4202	c.4201C>T	c.(4201-4203)Cag>Tag	p.Q1401*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1441*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1383*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1388*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1388					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCAGCAGCAGGAGATGTA	0.597000													27	42					0	0	0.000720815	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111178	7111178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7111178G>A	ENST00000306904.5	+	1	1014	c.827G>A	c.(826-828)aGa>aAa	p.R276K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	276	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCTGAGCAGAGGCTCCCAT	0.662000													6	19					0	0	0.00116845	0	0
CACNB2	783	broad.mit.edu	37	10	18803206	18803206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18803206G>A	ENST00000396576.2	+	6	1048	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CACNB2_ENST00000377329.4_Missense_Mutation_p.D184N|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.D238N|CACNB2_ENST00000377315.4_Missense_Mutation_p.D190N|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.D210N|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	238	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAAGAAAATGATATTCCAGC	0.398000													8	50					0	0	0.000157383	0	0
EEF2K	29904	broad.mit.edu	37	16	22278015	22278015	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:22278015C>T	ENST00000263026.5	+	15	2056	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	528					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCAGGTCCATCTGGCCATGGT	0.662000													20	31					0	0	0.00152264	0	0
MPND	84954	broad.mit.edu	37	19	4354996	4354996	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4354996C>T	ENST00000599840.1	+	7	932	c.897C>T	c.(895-897)ggC>ggT	p.G299G	MPND_ENST00000262966.8_Silent_p.G299G|MPND_ENST00000359935.4_Intron			Q8N594	MPND_HUMAN	MPN domain containing	299	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGGGGGCCGCTGGGACG	0.672000													9	20					0	0	0.000673444	0	0
C9orf117	286207	broad.mit.edu	37	9	130475045	130475045	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:130475045G>A	ENST00000373295.2	+	7	1235	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Missense_Mutation_p.E48K	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	399										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATGGCACAAGGAGATGCTGCA	0.622000													11	48					0	0	0.000978159	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408470	98408470	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:98408470G>A	ENST00000339364.5	-	7	1250	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PIK3AP1_ENST00000371110.2_Silent_p.T199T|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	377						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCAGCGATGGTGTTGGGGT	0.577000													11	15					0	0	0.00136819	0	0
CA6	765	broad.mit.edu	37	1	9034702	9034702	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:9034702T>C	ENST00000377443.2	+	8	870	c.866T>C	c.(865-867)tTc>tCc	p.F289S	CA6_ENST00000377442.2_Missense_Mutation_p.F229S|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	289					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCTGAATTCCAGTTTTAC	0.383000													5	18					0	0	8.12818e-05	0	0
SAMD9	54809	broad.mit.edu	37	7	92731104	92731104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:92731104G>A	ENST00000379958.2	-	3	4576	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1436						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATAAGAGGGAAGCTAGAAA	0.353000													35	83					0	0	0.000491102	0	0
FAM47C	442444	broad.mit.edu	37	X	37028258	37028258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:37028258C>T	ENST00000358047.3	+	1	1827	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	592										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGGGTGTCCAGTCTCCCC	0.652000													30	16					0	0	0.00058488	0	0
CNTN4	152330	broad.mit.edu	37	3	2908473	2908473	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:2908473C>T	ENST00000397461.1	+	7	876	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CNTN4_ENST00000427331.1_Silent_p.S164S|CNTN4_ENST00000418658.1_Silent_p.S164S|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATACCCTTCCTATCAGGATA	0.378000													14	39					0	0	0.000295444	0	0
TIGD3	220359	broad.mit.edu	37	11	65123330	65123330	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65123330G>A	ENST00000309880.5	+	2	258	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	17	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGCCGAGAAGATCCAGGTGC	0.612000													29	53					0	0	0.000878237	0	0
NOX5	79400	broad.mit.edu	37	15	69320683	69320683	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:69320683C>T	ENST00000260364.5	+	4	550	c.249C>T	c.(247-249)ctC>ctT	p.L83L	NOX5_ENST00000448182.3_Silent_p.L83L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Silent_p.L101L|NOX5_ENST00000388866.3_Silent_p.L101L|NOX5_ENST00000455873.3_Silent_p.L94L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	101	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCAAATTCCTCTTCCAGGTGT	0.557000													23	86					0	0	0.000295444	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882950	228882950	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:228882950C>T	ENST00000392056.3	-	7	2666	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E874K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	874						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTCAGCCTCCTGGGAACCA	0.502000													58	117					0	0	0.000781405	0	0
MRPL54	116541	broad.mit.edu	37	19	3765185	3765185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:3765185G>A	ENST00000330133.4	+	2	177	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	47						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAAATCGGGAAAAGGTGCA	0.557000													11	23					0	0	0.000673444	0	0
OR8I2	120586	broad.mit.edu	37	11	55861194	55861194	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55861194C>T	ENST00000302124.2	+	1	442	c.411C>T	c.(409-411)tcC>tcT	p.S137S	OR8I2_ENST00000560768.1_Silent_p.S137S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAGTCATGTCCCAAAAAGTGT	0.448000													7	21					0	0	0.000274275	0	0
LILRA4	23547	broad.mit.edu	37	19	54849228	54849228	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54849228G>A	ENST00000291759.4	-	4	690	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	212	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGCTGCAGGGGGTCACTGGGT	0.572000													15	39					0	0	0.000422831	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393605	145393605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:145393605C>T	ENST00000511217.1	+	4	1092	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P347L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	347							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGACGTTCCTTCCAGCTGT	0.527000													24	34					0	0	0.000586117	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834577	125834577	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:125834577G>A	ENST00000299308.3	+	2	640	c.632G>A	c.(631-633)gGg>gAg	p.G211E		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	211						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCCTGCTCGGGGGCACCACG	0.632000													8	34					0	0	0.000157383	0	0
PTPRT	11122	broad.mit.edu	37	20	40738973	40738973	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:40738973C>T	ENST00000373198.3	-	24	3555	c.3320_splice	c.e24+1	p.S1107_splice	PTPRT_ENST00000356100.2_Splice_Site_p.S1094_splice|PTPRT_ENST00000373184.1_Splice_Site_p.S1095_splice|PTPRT_ENST00000373193.3_Splice_Site_p.S1088_splice|PTPRT_ENST00000373201.1_Splice_Site_p.S1075_splice|PTPRT_ENST00000373190.1_Splice_Site_p.S1084_splice|PTPRT_ENST00000373187.1_Splice_Site_p.S1085_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1085	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGACTTACCTGCAGTGGAC	0.617000													5	23					0	0	0.000602214	0	0
COL9A1	1297	broad.mit.edu	37	6	70944503	70944503	+	Silent	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:70944503G>C	ENST00000357250.6	-	34	2411	c.2253C>G	c.(2251-2253)ggC>ggG	p.G751G	COL9A1_ENST00000370499.4_Silent_p.G508G|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.G508G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	751	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCACCGGAGGGCCCTGGACAC	0.617000													4	17					0	0	0.00024832	0	0
HECW2	57520	broad.mit.edu	37	2	197090531	197090531	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:197090531G>A	ENST00000260983.2	-	23	4163	c.3981C>T	c.(3979-3981)ttC>ttT	p.F1327F	HECW2_ENST00000409111.1_Silent_p.F971F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1327	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCGTGTGAAGAAGGCATCCA	0.373000													14	30					0	0	0.000566183	0	0
RNF148	378925	broad.mit.edu	37	7	122342400	122342400	+	Silent	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:122342400C>A	ENST00000434824.1	-	1	621	c.405G>T	c.(403-405)acG>acT	p.T135T	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	135	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTTTACTGCCCGTACCTTGAT	0.463000													5	120					0.00116845	0.00736227	0.00116845	1	0
FLNC	2318	broad.mit.edu	37	7	128488671	128488671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:128488671G>A	ENST00000325888.8	+	27	4898	c.4637G>A	c.(4636-4638)gGc>gAc	p.G1546D	FLNC_ENST00000346177.6_Missense_Mutation_p.G1546D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1546					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGCCAGCGGCCCAGGCCTC	0.627000													64	163					0	0	0.000781405	0	0
FXR1	8087	broad.mit.edu	37	3	180685857	180685857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:180685857C>T	ENST00000357559.4	+	14	1601	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	FXR1_ENST00000305586.7_Missense_Mutation_p.S321F|FXR1_ENST00000468861.1_Missense_Mutation_p.S321F|FXR1_ENST00000445140.2_Missense_Mutation_p.S406F|FXR1_ENST00000480918.1_Missense_Mutation_p.S393F|FXR1_ENST00000491062.1_Missense_Mutation_p.S357F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	406					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTGAGCTGTCTAACCCCTCT	0.398000													14	59					0	0	0.00074312	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569310	2569310	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2569310C>T	ENST00000564543.1	+	2	1174	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	ATP6V0C_ENST00000330398.4_Silent_p.I57I|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.P40S|ATP6V0C_ENST00000564973.1_Silent_p.I14I|ATP6V0C_ENST00000565223.1_Silent_p.I14I																							AGTCCATCATCCCAGTGGTCA	0.602000													15	40					0	0	0.000422831	0	0
PITPNB	23760	broad.mit.edu	37	22	28307087	28307087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:28307087C>T	ENST00000335272.5	-	3	138	c.62G>A	c.(61-63)gGg>gAg	p.G21E	PITPNB_ENST00000320996.10_Missense_Mutation_p.G21E|PITPNB_ENST00000455418.3_Missense_Mutation_p.G23E	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	21					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						GTAAAGCTGCCCAACCTGATA	0.348000													18	23					0	0	0.00188189	0	0
DBT	1629	broad.mit.edu	37	1	100715332	100715332	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:100715332C>T	ENST00000370132.3	-	1	58	c.45G>A	c.(43-45)ggG>ggA	p.G15G	DBT_ENST00000370131.3_Silent_p.G15G	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	15					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTACCAGCTTCCCCGCATTCC	0.582000													16	59					0	0	0.000566183	0	0
KIF5A	3798	broad.mit.edu	37	12	57976385	57976385	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:57976385G>A	ENST00000455537.2	+	27	3267	c.2992_splice	c.e27-1	p.G998_splice	KIF5A_ENST00000286452.5_Splice_Site_p.G909_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	998	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCTCTTCAGGAAATGCCACA	0.438000													103	132					0	0	0.000781405	0	0
CAPN11	11131	broad.mit.edu	37	6	44144035	44144035	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:44144035C>T	ENST00000398776.1	+	9	999	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	CAPN11_ENST00000542245.1_Missense_Mutation_p.P321S	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	321	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTCCGGAATCCCTGGGGCCG	0.597000													13	51					0	0	0.000219431	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999892	112999892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:112999892C>T	ENST00000271277.6	+	6	2003	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	593						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCCTTCTCCATCTGCTACC	0.552000													20	54					0	0	0.00188189	0	0
EYA1	2138	broad.mit.edu	37	8	72211462	72211462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:72211462G>A	ENST00000340726.3	-	9	1285	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	EYA1_ENST00000388740.3_Missense_Mutation_p.P183S|EYA1_ENST00000419131.1_Missense_Mutation_p.P211S|EYA1_ENST00000388743.2_Missense_Mutation_p.P215S|EYA1_ENST00000388742.4_Missense_Mutation_p.P216S|EYA1_ENST00000303824.7_Missense_Mutation_p.P210S|EYA1_ENST00000388741.2_Missense_Mutation_p.P182S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	216					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGATAAGACGGATAGTCCTAC	0.428000													14	28					0	0	0.000422831	0	0
LILRA5	353514	broad.mit.edu	37	19	54823336	54823336	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54823336C>T	ENST00000301219.3	-	4	326	c.207G>A	c.(205-207)ggG>ggA	p.G69G	LILRA5_ENST00000346508.3_Silent_p.G57G|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.G69G|LILRA5_ENST00000446712.3_Silent_p.G57G	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	69	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTCCAGGGTCCCCTGACACC	0.587000													33	77					0	0	0.00058488	0	0
UNC45B	146862	broad.mit.edu	37	17	33513330	33513330	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:33513330T>C	ENST00000268876.5	+	20	2645	c.2548T>C	c.(2548-2550)Ttg>Ctg	p.L850L	UNC45B_ENST00000433649.1_Silent_p.L848L|UNC45B_ENST00000378449.1_Silent_p.L769L|UNC45B_ENST00000591048.1_Silent_p.L769L|UNC45B_ENST00000394570.2_Silent_p.L848L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	850					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AACCCAGTGGTTGGAGATCCT	0.572000													10	66					0	0	0.000673444	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162191	23162191	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:23162191G>A	ENST00000390316.2	+	0	399																											ACCATCAGCAGAGCCCAAGCC	0.567000													20	27					0	0	0.000958276	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554139	140554139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140554139C>T	ENST00000231137.3	+	1	1897	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		575	Cadherin 6.		P -> L (in dbSNP:rs13189280).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCACCGAGCCGTTGCCCCG	0.701000													16	65					0	0	0.000308642	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791087	106791087	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:106791087G>A	ENST00000390613.2	-	0	348																											ATTGTCTCTGGAGATGGTGAA	0.507000													36	158					0	0	0.00111076	0	0
OR4C15	81309	broad.mit.edu	37	11	55322792	55322792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55322792C>T	ENST00000314644.2	+	1	1010	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P337H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCTCAATCCTTTGATTTAC	0.358000										HNSCC(20;0.049)			8	67					0	0	0.000274275	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021259	142021259	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142021259C>T	ENST00000390381.3	+	0	548																											GGAAACTTCCCTGGTCGATTC	0.532000													14	26					0	0	0.000219431	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649346	51649346	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51649346C>T	ENST00000317643.6	+	4	1064	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.S239F	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	332	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CAGCACGTTTCCCTGAACCTC	0.607000													23	55					0	0	0.000375601	0	0
NR3C2	4306	broad.mit.edu	37	4	149075934	149075934	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:149075934G>A	ENST00000355292.3	-	5	2507	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.I711I|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.I715I|NR3C2_ENST00000344721.4_Silent_p.I711I			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	711	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGCAGGAGCGATGTACGTTG	0.577000													41	56					0	0	0.000437636	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554452	140554452	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140554452A>G	ENST00000231137.3	+	1	2210	c.2036A>G	c.(2035-2037)gAc>gGc	p.D679G		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		679					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCCCGGACCAGGCCAAC	0.701000													5	225					0	0	8.12818e-05	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831410	55831410	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55831410G>T	ENST00000326652.4	-	6	503	c.321C>A	c.(319-321)ttC>ttA	p.F107L	TMEM150B_ENST00000438693.1_Missense_Mutation_p.F107L			A6NC51	T150B_HUMAN	transmembrane protein 150B	107						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GTCTCACCTGGAAATTGCCTA	0.637000													29	53					6.38683e-12	4.0751e-11	0.001512	1	0
TRDV1	28518	broad.mit.edu	37	14	22564757	22564757	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:22564757C>T	ENST00000390452.2	+	0	226																											TTTCCTTATTCGCCAGGGTTC	0.423000													47	51					0	0	0.000781405	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770886	145770886	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:145770886G>A	ENST00000276826.5	-	5	2469	c.2268C>T	c.(2266-2268)gaC>gaT	p.D756D	ARHGAP39_ENST00000377307.2_Silent_p.D756D|ARHGAP39_ENST00000540274.1_Silent_p.D756D|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	756	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGCCCGCCGGTCACCCATGT	0.642000													8	42					0	0	0.000442599	0	0
NEBL	10529	broad.mit.edu	37	10	21108375	21108375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:21108375C>T	ENST00000377122.4	-	20	2429	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	678					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCCTGGTTTCGCCTCACTCT	0.433000													19	124					0	0	0.000295444	0	0
AP1G2	8906	broad.mit.edu	37	14	24034858	24034858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24034858G>A	ENST00000308724.5	-	6	1453	c.698C>T	c.(697-699)tCc>tTc	p.S233F	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.S233F	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	233					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTGTTCTGTGGAGTATCCCAT	0.552000													17	24					0	0	0.00152264	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179541542	179541542	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:179541542C>T	ENST00000393371.2	-	10	1380		c.e10-1		RASGEF1C_ENST00000522500.1_Splice_Site|RASGEF1C_ENST00000361132.4_Splice_Site			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATGACAATCTGGAAGAAAG	0.602000													11	26					0	0	0.000978159	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267631	67267631	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:67267631G>A	ENST00000356404.3	-	6	1127	c.902C>T	c.(901-903)cCc>cTc	p.P301L	PITPNM1_ENST00000436757.2_Missense_Mutation_p.P301L|PITPNM1_ENST00000534749.1_Missense_Mutation_p.P301L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	301					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGCATCGGGGGAGGCATC	0.692000													6	23					0	0	0.000274275	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030294	10030294	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:10030294C>T	ENST00000378380.3	+	6	1406	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.F359F|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AGAACGACTTCGTGATGGTGT	0.527000													5	28					0	0	0.000602214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448632	110448632	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110448632G>A	ENST00000378402.5	+	30	3675	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1191	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTGGAAATGAAACCTGCAA	0.358000										HNSCC(38;0.096)			17	22					0	0	0.00074312	0	0
ASH1L	55870	broad.mit.edu	37	1	155449607	155449607	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:155449607G>A	ENST00000368346.3	-	3	3693	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	ASH1L_ENST00000392403.3_Silent_p.L1018L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1018					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCGTATTATGGAGTTTGGATT	0.338000													16	35					0	0	0.00074312	0	0
STOX1	219736	broad.mit.edu	37	10	70645727	70645727	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70645727G>A	ENST00000298596.6	+	3	2258	c.2175G>A	c.(2173-2175)gtG>gtA	p.V725V	STOX1_ENST00000399169.4_Silent_p.V725V|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.V615V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	725						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGAAGTGGAAGATGATG	0.413000													21	31					0	0	0.00188189	0	0
C8B	732	broad.mit.edu	37	1	57406649	57406649	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:57406649A>G	ENST00000543257.1	-	10	1681	c.1115T>C	c.(1114-1116)gTg>gCg	p.V372A	C8B_ENST00000535057.1_Missense_Mutation_p.V362A|C8B_ENST00000371237.4_Missense_Mutation_p.V424A	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	424	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCAGGACCACCAAGTCCTC	0.577000													5	16					0	0	0.00116845	0	0
PHF12	57649	broad.mit.edu	37	17	27248758	27248758	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:27248758C>T	ENST00000577226.1	-	5	1130	c.784G>A	c.(784-786)Gat>Aat	p.D262N	PHF12_ENST00000332830.4_Missense_Mutation_p.D262N|PHF12_ENST00000268756.3_Missense_Mutation_p.D262N|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	262	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATTGTGATCTAATTCATGC	0.408000													28	52					0	0	0.000878237	0	0
CHD4	1108	broad.mit.edu	37	12	6705212	6705212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:6705212G>A	ENST00000309577.6	-	13	2147	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.Q659*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.Q662*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.Q655*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	662	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCGTAATCCTGGATCTCCACA	0.463000													17	105					0	0	0.000566183	0	0
OR10G7	390265	broad.mit.edu	37	11	123909436	123909436	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:123909436G>A	ENST00000330487.5	-	1	281	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGGAAGGAGATAGTCCTGC	0.527000													37	141					0	0	0.00195071	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540380	94540380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:94540380G>A	ENST00000289495.5	+	1	1171	c.955G>A	c.(955-957)Gat>Aat	p.D319N	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D319N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D319N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D319N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D319N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D319N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	319						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CATTGACAAAGATGGTCCTGA	0.468000										HNSCC(28;0.073)			19	42					0	0	0.00188189	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222135	140222135	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140222135A>T	ENST00000531613.1	+	1	1229	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D410V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGCTGGACAGCGCCCTG	0.627000													40	189					0	0	0.000680045	0	0
AMER3	205147	broad.mit.edu	37	2	131520776	131520776	+	Silent	SNP	C	C	T	rs148342332	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:131520776C>T	ENST00000423981.1	+	2	1241	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	AMER3_ENST00000321420.4_Silent_p.P377P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCGAGCAGCCCGAATCCGTGT	0.637000													17	25					0	0	0.00074312	0	0
PI16	221476	broad.mit.edu	37	6	36922685	36922685	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36922685C>T	ENST00000373674.3	+	1	477	c.149C>T	c.(148-150)aCg>aTg	p.T50M		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	50			T -> P (in dbSNP:rs1405069).			extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTATCCCCGACGGCCTCAGAC	0.627000													19	22					0	0	0.00188189	0	0
MCM3AP	8888	broad.mit.edu	37	21	47690322	47690322	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:47690322A>T	ENST00000397708.1	-	10	2875	c.2621T>A	c.(2620-2622)tTc>tAc	p.F874Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.F874Y			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	874					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACCTGACTGAAGTAACAGTG	0.418000													17	97					0	0	0.000375601	0	0
EPHA2	1969	broad.mit.edu	37	1	16475117	16475117	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:16475117G>A	ENST00000358432.5	-	3	733	c.579C>T	c.(577-579)tcC>tcT	p.S193S	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	193	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGACACGGACGGAGAGCAGCG	0.642000													11	33					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179584294	179584294	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179584294G>A	ENST00000589042.1	-	82	24149	c.23925C>T	c.(23923-23925)tcC>tcT	p.S7975S	TTN_ENST00000342992.6_Silent_p.S6731S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S7658S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7658	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6731S(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)			AAACATGGACGGATACAGTGC	0.388000													13	35					0	0	0.000422831	0	0
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	167					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	0.00074312	0	0
COL1A1	1277	broad.mit.edu	37	17	48271376	48271376	+	Silent	SNP	G	G	A	rs74315120		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48271376G>A	ENST00000225964.5	-	25	1813	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	565	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGGGGTCCGGGGCGACCAT	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						18	40					0	0	0.000958276	0	0
HBBP1	3044	broad.mit.edu	37	11	5264377	5264377	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5264377G>A	ENST00000454892.1	-	0	119					NR_001589.1																						TTACAGTGCAGGTCACTCAGT	0.483000													3	13					0	0	6.4e-05	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265673	32265673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:32265673G>A	ENST00000360482.2	-	5	1801	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	SPOCD1_ENST00000533231.1_Missense_Mutation_p.P558S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P51S|SPOCD1_ENST00000373648.2_Missense_Mutation_p.P499S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	558					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCGCTTCTTGGAGGGTAGAAG	0.622000													9	19					0	0	0.000274275	0	0
MERTK	10461	broad.mit.edu	37	2	112751933	112751933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:112751933G>A	ENST00000295408.4	+	9	1659	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	MERTK_ENST00000421804.2_Missense_Mutation_p.G468R|MERTK_ENST00000409780.1_Missense_Mutation_p.G292R			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	468	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACCAGAGGGGGAGTTGGGCC	0.542000													51	104					0	0	0.000781405	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242235	18242235	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18242235C>T	ENST00000377369.2	+	2	303	c.30C>T	c.(28-30)tcC>tcT	p.S10S	SLC39A12_ENST00000377374.4_Silent_p.S10S|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Silent_p.S10S	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCAGTATCCTGGGTGCCAT	0.517000													27	48					0	0	0.000586117	0	0
P4HA3	283208	broad.mit.edu	37	11	73979287	73979287	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:73979287C>T	ENST00000331597.4	-	12	1513		c.e12-1		P4HA3_ENST00000427714.2_Intron	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III							endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTGCTGCATTCTGAAACAAGA	0.547000													34	33					0	0	0.000339439	0	0
S1PR1	1901	broad.mit.edu	37	1	101704868	101704868	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:101704868T>C	ENST00000305352.6	+	2	703	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	110					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						GGCCACCACCTACAAGCTCAC	0.567000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	50					0	0	0.000219431	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369297	20369297	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:20369297G>A	ENST00000593655.1	-	0	199																											GGGATGACACGAAACACCTGT	0.378000													58	116					0	0	0.000781405	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601050	48601050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48601050C>T	ENST00000323776.5	+	12	1831	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.H520Y	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	520					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTTTCGAACCCATCCTACTCT	0.473000													22	45					0	0	0.000586117	0	0
WDR6	11180	broad.mit.edu	37	3	49050182	49050182	+	Silent	SNP	C	C	T	rs138381601		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:49050182C>T	ENST00000395474.3	+	2	1585	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Silent_p.F354F	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	405					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCGAGGGCTTCGGATTGTGTG	0.562000													10	31					0	0	0.000978159	0	0
CCDC80	151887	broad.mit.edu	37	3	112357148	112357148	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:112357148C>T	ENST00000206423.3	-	2	2558	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	CCDC80_ENST00000439685.2_Silent_p.K535K	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	535	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTTTAGACTCCTTTGCTTTTT	0.428000													12	39					0	0	0.00185496	0	0
MXRA5	25878	broad.mit.edu	37	X	3229074	3229074	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:3229074G>A	ENST00000217939.6	-	7	7324	c.7170C>T	c.(7168-7170)acC>acT	p.T2390T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2390	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCAGAGGAGGTGGGGATCA	0.537000													46	20					0	0	0.000509022	0	0
PARD6B	84612	broad.mit.edu	37	20	49366992	49366992	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:49366992C>T	ENST00000371610.2	+	3	1329	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	362					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATCAAAAACTCTTAGAAGAAG	0.398000													14	20					0	0	0.000308642	0	0
NLRP2	55655	broad.mit.edu	37	19	55481484	55481484	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55481484C>T	ENST00000543010.1	+	2	244	c.101C>T	c.(100-102)tCc>tTc	p.S34F	NLRP2_ENST00000427260.2_Missense_Mutation_p.S34F|NLRP2_ENST00000263437.6_Missense_Mutation_p.S34F|NLRP2_ENST00000391721.4_Missense_Mutation_p.S34F|NLRP2_ENST00000339757.7_Missense_Mutation_p.S34F|NLRP2_ENST00000537859.1_Missense_Mutation_p.S34F|NLRP2_ENST00000538819.1_Missense_Mutation_p.S34F|NLRP2_ENST00000448584.2_Missense_Mutation_p.S34F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	34	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGACCTTCTCCCTGGCACAC	0.547000													32	71					0	0	0.000409698	0	0
DIAPH2	1730	broad.mit.edu	37	X	96212903	96212903	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:96212903C>T	ENST00000324765.8	+	16	2038	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	DIAPH2_ENST00000373061.3_Missense_Mutation_p.P564L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P564L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P564L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P560L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	564	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGCCGCCTCCACCACCACCC	0.557000													13	10					0	0	0.00136819	0	0
NUGGC	389643	broad.mit.edu	37	8	27898672	27898672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:27898672C>T	ENST00000413272.2	-	13	1649	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E503K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		ATGGCCTTCTCCAGCAGCTCA	0.557000													4	12					0	0	0.000602214	0	0
FLRT2	23768	broad.mit.edu	37	14	86087949	86087949	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:86087949T>G	ENST00000330753.4	+	2	858	c.91T>G	c.(91-93)Tcc>Gcc	p.S31A	FLRT2_ENST00000554746.1_Missense_Mutation_p.S31A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	31					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCACAGGTGTCCAAACTCCT	0.542000													37	63					0	0	0.00128727	0	0
STAG1	10274	broad.mit.edu	37	3	136087951	136087951	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:136087951C>T	ENST00000383202.2	-	24	2800	c.2545_splice	c.e24+1	p.M848_splice	STAG1_ENST00000536929.1_Splice_Site_p.M432_splice|STAG1_ENST00000236698.5_Splice_Site_p.M848_splice|STAG1_ENST00000434713.2_Splice_Site_p.M622_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	848					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TACAAGTACCCATGCTCTGGT	0.368000													5	11					0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152275817	152275817	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:152275817C>T	ENST00000368799.1	-	3	11580	c.11545G>A	c.(11545-11547)Gaa>Aaa	p.E3849K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCACCCTGGCCG	0.597000									Ichthyosis				60	180					0	0	0.000781405	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58125899G>A	ENST00000357377.3	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000													5	9					0	0	0.00116845	0	0
RAG2	5897	broad.mit.edu	37	11	36614842	36614842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:36614842C>T	ENST00000311485.3	-	2	1038	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	293			E -> G (in dbSNP:rs16929093).		chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGTTGTCCTCTAAAGAGATG	0.398000									Familial Hemophagocytic Lymphohistiocytosis				42	70					0	0	0.000437636	0	0
RBM22	55696	broad.mit.edu	37	5	150078131	150078131	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:150078131C>T	ENST00000199814.4	-	4	322	c.201G>A	c.(199-201)aaG>aaA	p.K67K	RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	67					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTTCAGTCTTCTTGAAAC	0.463000													12	77					0	0	0.000219431	0	0
FAT2	2196	broad.mit.edu	37	5	150930261	150930261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:150930261C>T	ENST00000261800.5	-	7	4480	c.4468G>A	c.(4468-4470)Gac>Aac	p.D1490N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1490	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGGGTCTTGGCTGCCA	0.587000													15	24					0	0	0.000219431	0	0
INHBA	3624	broad.mit.edu	37	7	41730026	41730026	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:41730026C>T	ENST00000242208.4	-	3	749	c.503G>A	c.(502-504)aGg>aAg	p.R168K	INHBA_ENST00000442711.1_Missense_Mutation_p.R168K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	168					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			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						GACTTTGGTCCTGGTCCTGTT	0.587000										TSP Lung(11;0.080)			33	65					0	0	0.00128727	0	0
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:89058940C>T	ENST00000286614.6	-	9	1727	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378000													32	47					0	0	0.00058488	0	0
CCDC40	55036	broad.mit.edu	37	17	78032373	78032373	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:78032373G>A	ENST00000397545.4	+	8	1267	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	CCDC40_ENST00000374877.3_Missense_Mutation_p.D414N|CCDC40_ENST00000269318.5_Missense_Mutation_p.D414N|CCDC40_ENST00000374876.4_Missense_Mutation_p.D414N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	414					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGCGTGACGACATCCGCGT	0.562000													9	40					0	0	0.000442599	0	0
GRM3	2913	broad.mit.edu	37	7	86416388	86416388	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:86416388G>A	ENST00000361669.2	+	3	2379	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E	GRM3_ENST00000439827.1_Missense_Mutation_p.G427E|GRM3_ENST00000394720.2_Missense_Mutation_p.G425E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G299E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	427					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCCTGGATGGGAAGAAGTTG	0.453000													60	128					0	0	0.000781405	0	0
TIMD4	91937	broad.mit.edu	37	5	156378783	156378783	+	Missense_Mutation	SNP	C	C	T	rs147239944		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:156378783C>T	ENST00000274532.2	-	3	475	c.419G>A	c.(418-420)aGa>aAa	p.R140K	TIMD4_ENST00000407087.3_Missense_Mutation_p.R140K	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	140	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGCTGTTCTGTGCGTGGT	0.502000													219	410					0	0	0.000781405	0	0
F11	2160	broad.mit.edu	37	4	187205274	187205274	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:187205274C>T	ENST00000264692.4	+	11	1341	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	F11_ENST00000403665.2_Silent_p.I388I			P03951	FA11_HUMAN	coagulation factor XI	388	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGCCCAGGATCGTTGGAGGAA	0.517000													36	70					0	0	0.00170553	0	0
ASB15	142685	broad.mit.edu	37	7	123267276	123267276	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:123267276T>G	ENST00000451558.1	+	11	1331	c.810T>G	c.(808-810)aaT>aaG	p.N270K	ASB15_ENST00000275699.3_Missense_Mutation_p.N270K|ASB15_ENST00000540573.1_Missense_Mutation_p.N270K|ASB15_ENST00000434204.1_Missense_Mutation_p.N270K|ASB15_ENST00000451215.1_Missense_Mutation_p.N270K			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	270					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCGGAAATGTACCTAACC	0.483000													12	22					0	0	0.000978159	0	0
COL3A1	1281	broad.mit.edu	37	2	189850436	189850436	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:189850436G>A	ENST00000304636.3	+	4	549	c.379G>A	c.(379-381)Gga>Aga	p.G127R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G127R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	127					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTATTCCAGGACAACCAGG	0.443000													3	9					0	0	0.00024832	0	0
TOX3	27324	broad.mit.edu	37	16	52497959	52497959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:52497959C>T	ENST00000219746.9	-	3	579	c.295G>A	c.(295-297)Gga>Aga	p.G99R	TOX3_ENST00000407228.3_Missense_Mutation_p.G94R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	99					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AATTCACTTCCCTGGGAAGGC	0.532000													27	40					0	0	0.000720815	0	0
CSMD1	64478	broad.mit.edu	37	8	3889468	3889468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:3889468C>T	ENST00000520002.1	-	4	1124	c.569G>A	c.(568-570)gGa>gAa	p.G190E	CSMD1_ENST00000400186.3_Missense_Mutation_p.G190E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G190E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G190E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G190E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G190E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G190E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	190	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACCATTTCCTGGGCTGAC	0.557000													24	27					0	0	0.000720815	0	0
CNKSR2	22866	broad.mit.edu	37	X	21508620	21508620	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:21508620C>T	ENST00000425654.2	+	6	1085	c.605C>T	c.(604-606)tCg>tTg	p.S202L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S202L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S202L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S202L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	202					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATATCCCTGTCGTCAGATCCT	0.398000													31	13					0	0	0.00058488	0	0
CLIP2	7461	broad.mit.edu	37	7	73800895	73800895	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:73800895T>C	ENST00000223398.6	+	12	2851	c.2524T>C	c.(2524-2526)Ttg>Ctg	p.L842L	CLIP2_ENST00000361545.5_Silent_p.L807L|CLIP2_ENST00000395060.1_Silent_p.L842L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	842						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGTGACAGCCTTGACCTCCCA	0.592000													5	39					0	0	8.12818e-05	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559237	1559237	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:1559237G>A	ENST00000381605.4	-	2	244	c.180C>T	c.(178-180)atC>atT	p.I60I	RP4-576H24.4_ENST00000564763.1_Silent_p.I60I|SIRPB1_ENST00000381603.3_Silent_p.I60I|SIRPB1_ENST00000262929.5_Silent_p.I59I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	60	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCCACAGGGATCAGGGACG	0.542000													18	84					0	0	0.00152264	0	0
SNHG14	104472715	broad.mit.edu	37	15	25337112	25337112	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:25337112G>A	ENST00000546682.1	+	0	969				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CCAGGCTTAGGATGGGGTCCA	0.532000													8	17					0	0	0.000157383	0	0
ADAM2	2515	broad.mit.edu	37	8	39627009	39627009	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39627009G>A	ENST00000265708.4	-	12	1217	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	ADAM2_ENST00000521880.1_Missense_Mutation_p.H372Y|ADAM2_ENST00000379853.2_Missense_Mutation_p.H246Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.H353Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	372	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGCTGATTGTGAAGACACTGG	0.433000													13	24					0	0	0.000219431	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287191	53287191	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:53287191C>T	ENST00000294353.6	+	14	2270	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	ZYG11B_ENST00000443756.2_Missense_Mutation_p.P639S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	709							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATACTGATCCCCATGTCCA	0.433000													6	25					0	0	0.00116845	0	0
DAGLA	747	broad.mit.edu	37	11	61505224	61505224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:61505224C>T	ENST00000257215.5	+	15	1696	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	527					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GACCTCGTCCCCAGGTGAGTC	0.617000													13	36					0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13770895	13770895	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:13770895C>T	ENST00000265104.4	-	56	9672	c.9568G>A	c.(9568-9570)Gga>Aga	p.G3190R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3190	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTTTTCTCCATATATGAAC	0.448000									Kartagener syndrome				11	26					0	0	0.000978159	0	0
NLRP8	126205	broad.mit.edu	37	19	56481909	56481909	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:56481909G>A	ENST00000291971.3	+	6	2452		c.e6-1		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8							cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCTTCTACAGGTTGGAAGAC	0.463000													50	125					0	0	0.000781405	0	0
MYF6	4618	broad.mit.edu	37	12	81102630	81102630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:81102630G>A	ENST00000228641.3	+	3	842	c.620G>A	c.(619-621)aGt>aAt	p.S207N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	207					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GGAGGAGCAAGTATTGATTCG	0.557000													52	75					0	0	0.000781405	0	0
PHTF2	57157	broad.mit.edu	37	7	77558604	77558604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:77558604C>T	ENST00000416283.2	+	10	1322	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	PHTF2_ENST00000307305.8_Missense_Mutation_p.P395L|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Missense_Mutation_p.P433L|PHTF2_ENST00000422959.2_Missense_Mutation_p.P399L|PHTF2_ENST00000275575.7_Missense_Mutation_p.P395L|PHTF2_ENST00000424760.1_Missense_Mutation_p.P395L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CAGATTAATCCATGTGTGAAA	0.373000													14	16					0	0	0.000308642	0	0
FAT4	79633	broad.mit.edu	37	4	126371309	126371309	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126371309C>T	ENST00000394329.3	+	9	9151	c.9138C>T	c.(9136-9138)tcC>tcT	p.S3046S	FAT4_ENST00000335110.5_Silent_p.S1344S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3046	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGCATCCTCCCTGATTTCTG	0.383000													14	21					0	0	0.000308642	0	0
HMBOX1	79618	broad.mit.edu	37	8	28908624	28908624	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:28908624C>T	ENST00000397358.3	+	11	1919	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	HMBOX1_ENST00000287701.10_Silent_p.A405A|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000444075.1_Silent_p.A428A|HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000524238.1_Silent_p.A428A	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	405					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGCATTGGCCCGACAAGGAG	0.483000													15	41					0	0	0.000422831	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328448	61328448	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:61328448C>T	ENST00000283752.5	-	2	146	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINB3_ENST00000332821.8_Start_Codon_SNP_p.M1I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	1					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAGTGAATTCATGGTGAACT	0.378000													8	21					0	0	0.000442599	0	0
HBG1	3047	broad.mit.edu	37	11	5269630	5269630	+	Missense_Mutation	SNP	C	C	T	rs35849660		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5269630C>T	ENST00000330597.3	-	3	490	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	135			V -> M (in Jiangsu).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCAGTCACCATCTTCTGC	0.502000													32	36					0	0	0.000409698	0	0
INO80E	283899	broad.mit.edu	37	16	30012333	30012333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:30012333C>T	ENST00000563197.1	+	5	1385	c.368C>T	c.(367-369)tCc>tTc	p.S123F	INO80E_ENST00000567254.1_Missense_Mutation_p.S123F|INO80E_ENST00000304516.7_Missense_Mutation_p.S123F|INO80E_ENST00000567705.1_Missense_Mutation_p.S123F	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	123	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CTTCAGGCCTCCGGGGTCCCC	0.652000													16	48					0	0	0.000566183	0	0
GLYAT	10249	broad.mit.edu	37	11	58477282	58477282	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58477282G>A	ENST00000344743.3	-	6	989	c.848C>T	c.(847-849)cCc>cTc	p.P283L	GLYAT_ENST00000529732.1_Missense_Mutation_p.P283L	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	283					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTGGGAATGGGAACATGTTG	0.458000													11	15					0	0	0.000978159	0	0
ELP2	55250	broad.mit.edu	37	18	33744542	33744542	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:33744542C>T	ENST00000358232.6	+	18	1929	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	ELP2_ENST00000350494.6_Silent_p.F617F|ELP2_ENST00000423854.2_Silent_p.F552F|ELP2_ENST00000351393.6_Silent_p.F596F|ELP2_ENST00000542824.1_Silent_p.F552F|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Silent_p.F687F	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	622					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGATGGCCTTCTCACCTAATG	0.423000													15	30					0	0	0.000422831	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450127	54450127	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:54450127A>C	ENST00000566473.2	+	6	731	c.731A>C	c.(730-732)aAa>aCa	p.K244T	ANKFN1_ENST00000318698.2_Missense_Mutation_p.K244T			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	244										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AACACAGAGAAAGAGAAGCAG	0.502000													30	92					0	0	0.00058488	0	0
UBA3	9039	broad.mit.edu	37	3	69111006	69111006	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:69111006G>A	ENST00000361055.4	-	11	923	c.869C>T	c.(868-870)tCa>tTa	p.S290L	UBA3_ENST00000415609.2_Missense_Mutation_p.S249L|UBA3_ENST00000540295.1_Missense_Mutation_p.S113L|UBA3_ENST00000349511.4_Missense_Mutation_p.S276L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	290					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ATTATATTGTGATGCTCTCTC	0.383000													12	89					0	0	0.000422831	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350529	134350529	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:134350529G>A	ENST00000275230.5	-	2	589	c.434C>T	c.(433-435)tCc>tTc	p.S145F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	145						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGAAGAGAGGGAGATGGAGAC	0.488000													13	36					0	0	0.000219431	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635849	65635849	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65635849G>A	ENST00000307998.6	-	9	1121	c.891C>T	c.(889-891)gcC>gcT	p.A297A	EFEMP2_ENST00000528176.1_Silent_p.A297A	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	297	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAGGTTTGGGCCTCGGAGC	0.612000													15	17					0	0	0.000219431	0	0
KLHL1	57626	broad.mit.edu	37	13	70549852	70549852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:70549852G>A	ENST00000377844.4	-	2	1339	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	194					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGCTCAGCATGATGAACAGCT	0.423000													23	37					0	0	0.000586117	0	0
ANK2	287	broad.mit.edu	37	4	114275374	114275374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:114275374C>T	ENST00000357077.4	+	38	5653	c.5600C>T	c.(5599-5601)tCa>tTa	p.S1867L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1834L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1834	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGACATTCACCTGCGTCA	0.443000													21	54					0	0	0.000375601	0	0
SHBG	6462	broad.mit.edu	37	17	7535033	7535033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7535033C>T	ENST00000380450.4	+	5	713	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SHBG_ENST00000575903.1_Missense_Mutation_p.P210S|SHBG_ENST00000575314.1_Missense_Mutation_p.P170S|SHBG_ENST00000570547.1_Missense_Mutation_p.P170S|SHBG_ENST00000576478.1_Missense_Mutation_p.P116S|SHBG_ENST00000340624.5_Missense_Mutation_p.P170S|SHBG_ENST00000576728.1_Missense_Mutation_p.P116S|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_Missense_Mutation_p.P228S|SHBG_ENST00000574539.1_Missense_Mutation_p.P170S|SHBG_ENST00000416273.3_Missense_Mutation_p.P228S|SHBG_ENST00000572262.1_Missense_Mutation_p.P116S	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	228	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GATATTTCTCCCTCCAGGGAC	0.557000													34	185					0	0	0.00111076	0	0
HELZ2	85441	broad.mit.edu	37	20	62203460	62203460	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:62203460C>T	ENST00000467148.1	-	1	348		c.e1+1		HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGTATCCTTACTTTGGGCAGA	0.637000													11	14					0	0	0.00136819	0	0
TTC40	54777	broad.mit.edu	37	10	134626349	134626349	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:134626349C>T	ENST00000368586.5	-	55	7541	c.7441G>A	c.(7441-7443)Gga>Aga	p.G2481R	TTC40_ENST00000263170.5_Missense_Mutation_p.G642R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	642										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCTCCATTCCATAGAAGAAG	0.597000													36	38					0	0	0.00195071	0	0
FBN3	84467	broad.mit.edu	37	19	8196549	8196549	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8196549C>T	ENST00000600128.1	-	15	2293	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	FBN3_ENST00000270509.2_Missense_Mutation_p.G627S|FBN3_ENST00000601739.1_Missense_Mutation_p.G627S			Q75N90	FBN3_HUMAN	fibrillin 3	627	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGGAGCCCTTCTCGATG	0.677000													27	51					0	0	0.00106085	0	0
OR52H1	390067	broad.mit.edu	37	11	5566642	5566642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5566642G>A	ENST00000322653.4	-	1	137	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACAGAAGGGAATTCCAATC	0.458000													11	65					0	0	0.000673444	0	0
PRB1	5542	broad.mit.edu	37	12	11506847	11506847	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:11506847C>T	ENST00000500254.2	-	3	227	c.190G>A	c.(190-192)Gga>Aga	p.G64R	PRB1_ENST00000546254.1_Missense_Mutation_p.G64R|PRB1_ENST00000545626.1_Missense_Mutation_p.G64R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.607000													6	241					0	0	0.000219431	0	0
EPHA3	2042	broad.mit.edu	37	3	89259646	89259646	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:89259646G>A	ENST00000336596.2	+	3	1015	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E264K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E264K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	264	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGCTGGCTATGAAGAAAGAGG	0.403000										TSP Lung(6;0.00050)			41	76					0	0	0.000781405	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478151	14478151	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:14478151G>A	ENST00000581457.1	-	0	1757					NR_024076.1																						AAGCACAGATGAGACGTATGG	0.398000													6	25					0	0	0.00116845	0	0
DISP1	84976	broad.mit.edu	37	1	223175966	223175966	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:223175966C>T	ENST00000284476.6	+	8	1391	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	409					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGGACCAGCTCAAGTGCACCA	0.507000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	164	283					0	0	0.000781405	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892267	9892267	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:9892267G>A	ENST00000506583.1	-	11	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SLC2A9_ENST00000309065.3_Silent_p.F365F|SLC2A9_ENST00000264784.3_Silent_p.F394F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	394					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGGTCCCAAAGAAGAGGCCCA	0.527000													9	47					0	0	0.000978159	0	0
CCER1	196477	broad.mit.edu	37	12	91347577	91347577	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:91347577C>T	ENST00000358859.2	-	1	1376	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		tcctcatcttcgacctcttcc	0.532000													5	45					0	0	0.000602214	0	0
ANO3	63982	broad.mit.edu	37	11	26656580	26656580	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:26656580A>T	ENST00000256737.3	+	20	2858	c.2006A>T	c.(2005-2007)aAa>aTa	p.K669I	ANO3_ENST00000531568.1_Missense_Mutation_p.K523I|ANO3_ENST00000537978.1_Missense_Mutation_p.K653I|ANO3_ENST00000525139.1_Missense_Mutation_p.K653I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	669						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CACCCAGGAAAATACAATAAA	0.453000													5	35					0	0	0.000274275	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777628	43777628	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:43777628C>T	ENST00000389420.3	-	30	4604	c.4605G>A	c.(4603-4605)ggG>ggA	p.G1535G		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1535	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCTTTCCATCCCCTTGTGCT	0.433000													43	45					0	0	0.000781405	0	0
SCN3A	6328	broad.mit.edu	37	2	166020363	166020363	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:166020363G>A	ENST00000360093.3	-	7	1134	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	SCN3A_ENST00000409101.3_Missense_Mutation_p.L215F|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	215						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAAGTTCGAAGGGCTGAAACA	0.368000													6	25					0	0	8.12818e-05	0	0
THRAP3	9967	broad.mit.edu	37	1	36752393	36752393	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:36752393C>T	ENST00000354618.5	+	4	786	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	THRAP3_ENST00000469141.2_Missense_Mutation_p.R188W	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	188	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAAGGATAGCCGGCCATCTCA	0.522000			T	USP6	aneurysmal bone cysts								73	110					0	0	0.000781405	0	0
CDH8	1006	broad.mit.edu	37	16	61761118	61761118	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:61761118C>T	ENST00000577390.1	-	9	2370	c.1414_splice	c.e9-1	p.R472_splice	CDH8_ENST00000577730.1_Splice_Site_p.R472_splice|CDH8_ENST00000584337.1_Splice_Site_p.R472_splice|CDH8_ENST00000299345.6_Splice_Site_p.R472_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGTGGTTCCCTATGGGAA	0.413000													3	9					0	0	0.00024832	0	0
PER3	8863	broad.mit.edu	37	1	7890087	7890087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:7890087C>T	ENST00000377532.3	+	18	3304	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L	PER3_ENST00000361923.2_Missense_Mutation_p.P1018L			P56645	PER3_HUMAN	period circadian clock 3	1018	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGAATCCATCCCATCCT	0.592000													9	45					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9084701	9084701	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9084701C>T	ENST00000397910.4	-	1	7317	c.7114G>A	c.(7114-7116)Gat>Aat	p.D2372N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2372	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATCAGATCAGAAGAAGAA	0.448000													12	17					0	0	0.000308642	0	0
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632000													40	81					0	0	0.000437636	0	0
UBE2S	27338	broad.mit.edu	37	19	55912905	55912905	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55912905C>T	ENST00000264552.9	-	4	755	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	190					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CCCTCAGCCCCTCCCGGGCCC	0.716000													17	29					0	0	0.00121646	0	0
PCDH19	57526	broad.mit.edu	37	X	99662087	99662087	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:99662087G>A	ENST00000373034.4	-	1	3184	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PCDH19_ENST00000420881.2_Silent_p.F503F|PCDH19_ENST00000255531.7_Silent_p.F503F	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGACATAGGTGAAGACAGGCA	0.582000													35	11					0	0	0.000491102	0	0
RHBDF1	64285	broad.mit.edu	37	16	112805	112805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:112805G>A	ENST00000262316.6	-	6	905	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	RHBDF1_ENST00000454039.2_Missense_Mutation_p.P255S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	255					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTCATCGGGGAAATCAGTT	0.622000													15	56					0	0	0.00074312	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810711	24810711	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:24810711G>A	ENST00000376451.2	+	7	1618	c.1357_splice	c.e7-1	p.G453_splice	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Splice_Site_p.G453_splice|KIAA1217_ENST00000376454.3_Splice_Site_p.G770_splice|KIAA1217_ENST00000307544.6_Splice_Site_p.G453_splice|KIAA1217_ENST00000376452.3_Splice_Site_p.G735_splice|KIAA1217_ENST00000458595.1_Splice_Site_p.G735_splice|KIAA1217_ENST00000376462.1_Splice_Site_p.G690_splice|KIAA1217_ENST00000396445.1_Splice_Site_p.G453_splice			Q5T5P2	SKT_HUMAN	KIAA1217	770					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGGCCTGCAGGAGAATTTCCA	0.527000													22	129					0	0	0.000586117	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432079	6432079	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6432079C>T	ENST00000321510.6	-	2	412	c.344G>A	c.(343-345)aGa>aAa	p.R115K		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	115					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CACCTTGGCTCTGTCCAGAGG	0.607000													23	45					0	0	0.000586117	0	0
SPNS1	83985	broad.mit.edu	37	16	28994599	28994599	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:28994599C>T	ENST00000311008.11	+	10	1685	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.Y481Y|SPNS1_ENST00000334536.8_Silent_p.Y384Y|SPNS1_ENST00000352260.7_Silent_p.Y362Y|SPNS1_ENST00000323081.8_Silent_p.Y363Y	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	436					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGAGCCCCTACCTCATTGGCC	0.612000													27	41					0	0	0.000339439	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530281	140530281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140530281G>A	ENST00000231136.1	+	1	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G12E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		148	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATGCCAGGAAAGATATTT	0.463000													74	97					0	0	0.000781405	0	0
GABPB2	126626	broad.mit.edu	37	1	151065782	151065782	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:151065782C>T	ENST00000368918.3	+	4	722	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	GABPB2_ENST00000368917.1_Missense_Mutation_p.H131Y|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.H131Y	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	131					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGCTGATGTCCATGCTTTCAG	0.433000													28	43					0	0	0.00106085	0	0
C10orf99	387695	broad.mit.edu	37	10	85936235	85936235	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:85936235G>A	ENST00000372126.3	+	2	184		c.e2-1			NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99							extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TCCACCCTCAGGGAAGAGGCG	0.552000													18	27					0	0	0.000566183	0	0
FAT4	79633	broad.mit.edu	37	4	126336743	126336743	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126336743G>A	ENST00000394329.3	+	5	6638	c.6625G>A	c.(6625-6627)Ggt>Agt	p.G2209S	FAT4_ENST00000335110.5_Missense_Mutation_p.G507S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2209	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTGTCACAGGTGCCATCAC	0.463000													9	24					0	0	0.000978159	0	0
SCN10A	6336	broad.mit.edu	37	3	38802219	38802219	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38802219C>T	ENST00000449082.2	-	7	902	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	301					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTGCCTCGCTTATTTATGT	0.463000													17	30					0	0	0.000566183	0	0
IWS1	55677	broad.mit.edu	37	2	128281289	128281289	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:128281289G>A	ENST00000295321.4	-	2	372	c.113C>T	c.(112-114)tCc>tTc	p.S38F	IWS1_ENST00000486662.1_Intron|IWS1_ENST00000455721.2_Missense_Mutation_p.S45F	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	38					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCTGATCCGGAGTGTTGCTC	0.443000													71	152					0	0	0.000781405	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552663	18552663	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:18552663C>T	ENST00000433979.1	+	15	2190	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P692S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P733S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	692					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCTCCCTTCCTTTAGTCCT	0.383000													43	42					0	0	0.000781405	0	0
AP1G1	164	broad.mit.edu	37	16	71784130	71784130	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:71784130G>A	ENST00000299980.4	-	14	1831	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	AP1G1_ENST00000393512.3_Missense_Mutation_p.L467F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L487F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L464F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L467F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	464					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAATCACCAAGAATTGCTTTG	0.368000													56	137					0	0	0.000781405	0	0
TEX13A	56157	broad.mit.edu	37	X	104464033	104464033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:104464033C>T	ENST00000372578.3	-	3	956	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	TEX13A_ENST00000413579.1_Silent_p.T281T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R282Q	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ACCAGGGGTTCGTGGTTCCAG	0.512000													21	10					0	0	0.000720815	0	0
TRPM2	7226	broad.mit.edu	37	21	45855065	45855065	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:45855065C>T	ENST00000397928.1	+	28	4471	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F	TRPM2_ENST00000300482.5_Silent_p.F1342F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F1288F|TRPM2_ENST00000397932.2_Silent_p.F1392F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1342						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCAGCTGCTTCGGACCCAACC	0.662000													35	49					0	0	0.00111076	0	0
NLRP10	338322	broad.mit.edu	37	11	7981841	7981841	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7981841C>T	ENST00000328600.2	-	2	1479	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	440	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGGGGCCATCTAAATTA	0.502000													21	116					0	0	0.000295444	0	0
GRM7	2917	broad.mit.edu	37	3	7620408	7620408	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:7620408C>T	ENST00000486284.1	+	8	2089	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	GRM7_ENST00000389336.4_Silent_p.T605T|GRM7_ENST00000357716.4_Silent_p.T605T|GRM7_ENST00000402647.2_Silent_p.T605T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T605T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	605					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCATTGCCACCATCTTTGTCA	0.522000													15	29					0	0	0.000308642	0	0
LHX3	8022	broad.mit.edu	37	9	139089222	139089222	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:139089222G>A	ENST00000371746.3	-	6	1276	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	LHX3_ENST00000371748.5_Silent_p.F381F	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	381					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGCTGGCAGGGAAGTCGGGGT	0.706000													10	18					0	0	0.00136819	0	0
NRXN2	9379	broad.mit.edu	37	11	64418795	64418795	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:64418795G>A	ENST00000265459.6	-	14	3311	c.2850C>T	c.(2848-2850)gcC>gcT	p.A950A	NRXN2_ENST00000377551.1_Silent_p.A950A|NRXN2_ENST00000409571.1_Silent_p.A943A|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.A910A	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	950	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCATCAGGGGCCGTGGTCT	0.577000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					0	0	0.000958276	0	0
HTR1D	3352	broad.mit.edu	37	1	23519749	23519749	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23519749G>A	ENST00000374619.1	-	1	1473	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	HTR1D_ENST00000314113.3_Silent_p.L322L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	322					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAGGACCAGAGACACCACG	0.522000													19	77					0	0	0.000958276	0	0
ALDOB	229	broad.mit.edu	37	9	104189790	104189790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:104189790C>T	ENST00000374855.4	-	5	638	c.514G>A	c.(514-516)Gct>Act	p.A172T	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	172					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCGTAGCGAGCCAGGGCGTTG	0.517000													14	35					0	0	0.000422831	0	0
CST11	140880	broad.mit.edu	37	20	23432469	23432469	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:23432469T>A	ENST00000377009.3	-	2	350	c.317A>T	c.(316-318)gAa>gTa	p.E106V	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	106					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGCTCCCTTTCCTGGGGGAC	0.488000													16	64					0	0	0.000958276	0	0
NDNF	79625	broad.mit.edu	37	4	121957863	121957863	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:121957863C>T	ENST00000379692.4	-	4	1789	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	421										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTTCCTTTCAGTCGAACGA	0.413000													27	27					0	0	0.000878237	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457016	110457016	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457016C>T	ENST00000378402.5	+	38	5022	c.4918C>T	c.(4918-4920)Ctg>Ttg	p.L1640L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1640	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTCTACAACCTGGGCACTGC	0.413000										HNSCC(38;0.096)			67	168					0	0	0.000781405	0	0
HNF1A	6927	broad.mit.edu	37	12	121426788	121426788	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121426788C>A	ENST00000257555.6	+	2	705	c.479C>A	c.(478-480)gCc>gAc	p.A160D	HNF1A_ENST00000400024.2_Missense_Mutation_p.A160D|HNF1A_ENST00000402929.1_Missense_Mutation_p.A160D|HNF1A_ENST00000543427.1_Missense_Mutation_p.A43D|HNF1A_ENST00000544413.1_Missense_Mutation_p.A160D|HNF1A_ENST00000541395.1_Missense_Mutation_p.A160D|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	160					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R159fs*26(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAAGCGGGCCGCCCTGTAC	0.627000									Hepatic Adenoma, Familial Clustering of				43	289					6.57855e-14	4.2045e-13	0.000437636	1	0
EP400	57634	broad.mit.edu	37	12	132514418	132514418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:132514418C>T	ENST00000333577.4	+	29	5771	c.5662C>T	c.(5662-5664)Cct>Tct	p.P1888S	EP400_ENST00000330386.6_Missense_Mutation_p.P1771S|EP400_ENST00000389562.2_Missense_Mutation_p.P1851S|EP400_ENST00000332482.4_Missense_Mutation_p.P1815S|EP400_ENST00000389561.2_Missense_Mutation_p.P1852S			Q96L91	EP400_HUMAN	E1A binding protein p400	1888					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGCAGTTCCCTGAGCTGAG	0.652000													5	31					0	0	0.000602214	0	0
RPAP1	26015	broad.mit.edu	37	15	41814314	41814314	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41814314G>A	ENST00000304330.4	-	20	2993	c.2877C>T	c.(2875-2877)ctC>ctT	p.L959L	RPAP1_ENST00000561603.1_Silent_p.L959L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	959	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCCAGAGCGAGTGCCAGGT	0.587000													30	60					0	0	0.000409698	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238539	71238539	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:71238539G>A	ENST00000398536.4	+	1	227	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	65	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGAGGCTGTGG	0.657000													74	132					0	0	0.000781405	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142919780C>T	ENST00000408947.3	+	1	651	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000													27	39					0	0	0.00127121	0	0
RBP3	5949	broad.mit.edu	37	10	48389018	48389018	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:48389018C>T	ENST00000224600.4	-	1	1973	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	620	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGGGCCTCCTCGGCCAGCA	0.672000													23	11					0	0	0.000878237	0	0
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:129636636G>A	ENST00000421865.2	+	25	3620	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1191	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463000													30	33					0	0	0.000814825	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712150	140712150	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140712150G>A	ENST00000517417.1	+	1	1899	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	PCDHGA1_ENST00000378105.3_Silent_p.L633L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCTGCTGGACAGAGACG	0.701000													10	57					0	0	0.00136819	0	0
NEFM	4741	broad.mit.edu	37	8	24775886	24775886	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:24775886G>A	ENST00000221166.5	+	3	3300	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	NEFM_ENST00000518131.1_Missense_Mutation_p.D622N|NEFM_ENST00000437366.2_Missense_Mutation_p.D801N|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D464N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	840	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGCCCAGCAGATGAAAAGAA	0.493000													23	36					0	0	0.000720815	0	0
RASAL2	9462	broad.mit.edu	37	1	178427145	178427145	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:178427145C>T	ENST00000448150.3	+	14	3503	c.2685C>T	c.(2683-2685)ccC>ccT	p.P895P	RASAL2_ENST00000462775.1_Silent_p.P765P|RASAL2_ENST00000367649.3_Silent_p.P906P	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	765					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGAAGGCCCCTGCACCCAG	0.572000													32	50					0	0	0.00178596	0	0
OR2T33	391195	broad.mit.edu	37	1	248436400	248436400	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248436400G>A	ENST00000318021.2	-	1	738	c.717C>T	c.(715-717)tgC>tgT	p.C239C		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	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)			CATGTGAAGAGCAGGTGGCAA	0.512000													16	37					0	0	0.00074312	0	0
ZNF831	128611	broad.mit.edu	37	20	57769665	57769665	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:57769665G>A	ENST00000371030.2	+	1	3591	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1197						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCCGCGGAGCAGAAGGCAA	0.632000													14	14					0	0	0.000566183	0	0
VWA3A	146177	broad.mit.edu	37	16	22157565	22157565	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:22157565G>A	ENST00000389398.5	+	27	2835	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	913						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGAGTGGTGAGACACATCC	0.532000													6	27					0	0	8.12818e-05	0	0
IDO2	169355	broad.mit.edu	37	8	39840243	39840243	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39840243C>T	ENST00000502986.2	+	5	669	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	IDO2_ENST00000389060.4_Missense_Mutation_p.H130Y|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	130					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCCTGGTCCACTCAGACTT	0.478000													10	17					0	0	0.00185496	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622461	41622461	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:41622461G>T	ENST00000331105.2	+	3	345	c.273G>T	c.(271-273)caG>caT	p.Q91H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	91					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGGTGGACCAGGGAGAGGAGT	0.587000													22	32					2.37509e-13	1.5167e-12	0.00152264	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69049560	69049560	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:69049560C>T	ENST00000295381.3	+	10	1705	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P422L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P390L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P430L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P423L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P123L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGGAAAAGCCAGGAGACTGG	0.498000													43	85					0	0	0.00148497	0	0
SYCP2	10388	broad.mit.edu	37	20	58490535	58490535	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:58490535T>G	ENST00000357552.3	-	9	809	c.584A>C	c.(583-585)gAa>gCa	p.E195A	SYCP2_ENST00000371001.2_Missense_Mutation_p.E195A			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	195					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AATTAACATTTCTTGGTTAGA	0.269000													21	70					0	0	0.000375601	0	0
MAP3K5	4217	broad.mit.edu	37	6	136958507	136958507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:136958507C>T	ENST00000359015.4	-	14	2332	c.1972G>A	c.(1972-1974)Ggg>Agg	p.G658R	MAP3K5_ENST00000355845.4_5'UTR|RP3-325F22.3_ENST00000432477.1_RNA	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	658					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTGCTTCTCCCCTTCTCTTCG	0.373000													7	37					0	0	0.000274275	0	0
FCGBP	8857	broad.mit.edu	37	19	40354371	40354371	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:40354371C>T	ENST00000221347.6	-	35	16105	c.16098G>A	c.(16096-16098)ggG>ggA	p.G5366G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5366	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGTTTCCCAGCATGGT	0.577000													14	24					0	0	0.000308642	0	0
UGT8	7368	broad.mit.edu	37	4	115597161	115597161	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:115597161T>C	ENST00000310836.6	+	6	1865	c.1343T>C	c.(1342-1344)aTa>aCa	p.I448T	UGT8_ENST00000394511.3_Missense_Mutation_p.I448T	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	448					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATCTATTGGATAGATTATATT	0.443000													17	91					0	0	0.00152264	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953658	72953658	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:72953658G>A	ENST00000421285.3	+	8	618	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	206										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGACCATAAAGGAGCGGGCGC	0.592000													12	129					0	0	0.000219431	0	0
DSG1	1828	broad.mit.edu	37	18	28934957	28934957	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:28934957T>A	ENST00000257192.4	+	15	3010	c.2798T>A	c.(2797-2799)aTg>aAg	p.M933K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M292K|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	933					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACTTCCGGCATGATAGGTAGT	0.483000													41	159					0	0	0.000680045	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634243	70634243	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70634243C>T	ENST00000381269.2	-	2	1650	c.897G>A	c.(895-897)ggG>ggA	p.G299G	SLC8A3_ENST00000534137.1_Silent_p.G299G|SLC8A3_ENST00000356921.2_Silent_p.G299G|SLC8A3_ENST00000528359.1_Silent_p.G299G|SLC8A3_ENST00000357887.3_Silent_p.G299G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	299					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCACCAGGTTCCCATCTAGAA	0.488000													9	16					0	0	0.00136819	0	0
BLK	640	broad.mit.edu	37	8	11400850	11400850	+	Silent	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:11400850G>C	ENST00000259089.4	+	2	709	c.117G>C	c.(115-117)ccG>ccC	p.P39P	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGCCACTGCCGCCCCTGGTGA	0.532000													10	25					0	0	0.000673444	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400102	13400102	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:13400102G>A	ENST00000284110.1	-	2	1430	c.633C>T	c.(631-633)atC>atT	p.I211I	HS3ST3A1_ENST00000578576.1_Silent_p.I9I	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	211						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCCATGGTGATCTGCCCGT	0.602000													12	55					0	0	0.00136819	0	0
LRP1B	53353	broad.mit.edu	37	2	141777559	141777559	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:141777559C>T	ENST00000389484.3	-	12	2873	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	634					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTCCGACTCTGAGAAGCTT	0.418000										TSP Lung(27;0.18)			8	11					0	0	0.000442599	0	0
AKAP3	10566	broad.mit.edu	37	12	4736421	4736421	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:4736421G>A	ENST00000545990.2	-	5	2171	c.1647C>T	c.(1645-1647)agC>agT	p.S549S	AKAP3_ENST00000228850.1_Silent_p.S549S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	549					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTCAACGAAGCTCCGTGCAT	0.527000													16	11					0	0	0.000422831	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174259	150174259	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150174259C>T	ENST00000307271.3	+	5	1963	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	463						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGAGCCTCGTCTTCACCTCTC	0.592000													37	60					0	0	0.000953801	0	0
BIRC6	57448	broad.mit.edu	37	2	32824895	32824895	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:32824895C>T	ENST00000421745.2	+	70	14054	c.13920C>T	c.(13918-13920)ccC>ccT	p.P4640P		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4640	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGTTCACCCCCTCTTGTGA	0.393000													29	53					0	0	0.001512	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367719	145367719	+	Missense_Mutation	SNP	G	G	A	rs145025037	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:145367719G>A	ENST00000342960.5	+	83	10350	c.10315G>A	c.(10315-10317)Gaa>Aaa	p.E3439K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3439										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCAGAAATTGAAaagaaggg	0.433000													10	57					0	0	0.000978159	0	0
HTR1D	3352	broad.mit.edu	37	1	23520335	23520335	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23520335G>A	ENST00000374619.1	-	1	887	c.378C>T	c.(376-378)atC>atT	p.I126I	HTR1D_ENST00000314113.3_Silent_p.I126I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	126					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGAGATGCAGGATGGAGGCTG	0.552000													10	34					0	0	0.000442599	0	0
PIGQ	9091	broad.mit.edu	37	16	624315	624315	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:624315C>T	ENST00000321878.5	+	2	400	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	PIGQ_ENST00000409527.2_Silent_p.L81L|PIGQ_ENST00000470411.2_Silent_p.L81L|PIGQ_ENST00000026218.5_Silent_p.L81L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	81					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGGCCGCTTCCTGGAGAGCCT	0.731000													9	24					0	0	0.000978159	0	0
C2CD2	25966	broad.mit.edu	37	21	43327113	43327113	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:43327113G>A	ENST00000380486.3	-	10	1547	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	C2CD2_ENST00000329623.7_Missense_Mutation_p.P281S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	436						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGCTCAGCGGGGACGCCCTC	0.582000													13	41					0	0	0.00185496	0	0
AOC1	26	broad.mit.edu	37	7	150558186	150558186	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150558186C>T	ENST00000493429.1	+	7	2729	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	AOC1_ENST00000467291.1_Silent_p.I715I|AOC1_ENST00000416793.2_Silent_p.I734I|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.I715I					amine oxidase, copper containing 1																		ACACTGTGATCGTGTGGCCTC	0.597000													19	39					0	0	0.00074312	0	0
CSF1	1435	broad.mit.edu	37	1	110466450	110466450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:110466450C>T	ENST00000329608.6	+	6	1598	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	CSF1_ENST00000369802.3_Missense_Mutation_p.P403S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	403					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCAGGCTCTCCCAGGATCTC	0.667000													23	33					0	0	0.000586117	0	0
MYH3	4621	broad.mit.edu	37	17	10543718	10543718	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10543718G>A	ENST00000583535.1	-	21	2445	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	MYH3_ENST00000226209.7_Silent_p.I786I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	786	IQ.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGTCCGGGTGATTAGTTTGG	0.547000													21	97					0	0	0.00188189	0	0
NEFL	4747	broad.mit.edu	37	8	24810312	24810312	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:24810312G>A	ENST00000221169.5	-	0	2238							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AATAATTAAGGAAATGGGGGT	0.418000													22	65					0	0	0.000375601	0	0
KCNK6	9424	broad.mit.edu	37	19	38817565	38817565	+	Missense_Mutation	SNP	G	G	A	rs150615852	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:38817565G>A	ENST00000263372.3	+	2	762	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	219						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CGGCCTGGGCGACTACGTGCC	0.632000													60	111					0	0	0.000781405	0	0
PRKG1	5592	broad.mit.edu	37	10	52834523	52834523	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:52834523A>T	ENST00000373980.4	+	1	590	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	47	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCAGCCACCCAGCAGGCGCAG	0.637000													4	10					0	0	0.00024832	0	0
MPO	4353	broad.mit.edu	37	17	56350778	56350778	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56350778C>T	ENST00000340482.3	-	8	1890	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	MPO_ENST00000225275.3_Missense_Mutation_p.E540K			P05164	PERM_HUMAN	myeloperoxidase	540					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.E540Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCTTACCTTCCAGCACGACC	0.607000													39	62					0	0	0.000953801	0	0
CD14	929	broad.mit.edu	37	5	140011896	140011896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140011896G>A	ENST00000302014.6	-	2	1302	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	CD14_ENST00000401743.2_Nonsense_Mutation_p.Q225*	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	225					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGATTCTGGATGGCCGGG	0.652000													18	65					0	0	0.00121646	0	0
KIF21A	55605	broad.mit.edu	37	12	39709037	39709037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:39709037G>A	ENST00000361961.3	-	30	4333	c.3914C>T	c.(3913-3915)tCc>tTc	p.S1305F	KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Intron|KIF21A_ENST00000395670.3_Intron|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1318F	NM_001173464.1|NM_017641.3	NP_001166935.1|NP_060111.2	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1318					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTACCTTCTGGAGGATCTGCT	0.383000													34	195					0	0	0.00128727	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571567	71571567	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:71571567T>A	ENST00000230053.6	-	3	1459	c.851A>T	c.(850-852)gAa>gTa	p.E284V	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	284					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCCAGTTCTTCGACTGTTGT	0.448000													15	28					0	0	0.000566183	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138453	126138453	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:126138453G>A	ENST00000299308.3	+	9	2442	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D324N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	812						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAATATAAAGACCACCTCAG	0.483000													35	41					0	0	0.000814825	0	0
GRM7	2917	broad.mit.edu	37	3	7456807	7456807	+	Silent	SNP	G	G	A	rs139183375		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:7456807G>A	ENST00000486284.1	+	5	1405	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	GRM7_ENST00000389336.4_Silent_p.T377T|GRM7_ENST00000357716.4_Silent_p.T377T|GRM7_ENST00000402647.2_Silent_p.T377T|GRM7_ENST00000403881.1_Silent_p.T377T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	377					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAAGTTGACGATTAGTGGGT	0.413000													12	17					0	0	0.00136819	0	0
STAB1	23166	broad.mit.edu	37	3	52553306	52553306	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:52553306G>A	ENST00000321725.6	+	49	5137	c.5061G>A	c.(5059-5061)gcG>gcA	p.A1687A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1687	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGACTTCGCGCGCGTGGTGA	0.642000													50	95					0	0	0.000781405	0	0
GHRHR	2692	broad.mit.edu	37	7	31016059	31016059	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:31016059G>A	ENST00000409316.1	+	8	726	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.S330S|GHRHR_ENST00000409904.3_Silent_p.S266S			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCTCCAAGTCGACACTTTTCC	0.527000													17	38					0	0	0.000958276	0	0
OR8D1	283159	broad.mit.edu	37	11	124180060	124180060	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:124180060G>A	ENST00000357821.2	-	1	673	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACCCCGCAATGATAAAAAGTA	0.488000													7	3					0	0	0.000274275	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510406	167510406	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:167510406G>A	ENST00000295777.5	+	4	941	c.510G>A	c.(508-510)agG>agA	p.R170R	SERPINI1_ENST00000446050.2_Silent_p.R170R	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	170					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATCCCCAAGGGATTTTGATG	0.383000													8	23					0	0	0.000442599	0	0
METTL2B	55798	broad.mit.edu	37	7	128119274	128119274	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:128119274T>C	ENST00000480046.1	+	2	185	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	METTL2B_ENST00000262432.8_Missense_Mutation_p.F89L			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	89							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAAAATGGGTTTTTCAAGGA	0.358000													29	46					0	0	0.001512	0	0
ROBO2	6092	broad.mit.edu	37	3	77607202	77607202	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:77607202C>T	ENST00000461745.1	+	9	2239	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P463S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P447S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	447	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGATCCTCTTCCTGTAATTAG	0.453000													4	16					0	0	0.00024832	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038220	14038220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:14038220G>A	ENST00000380523.4	-	4	767	c.449C>T	c.(448-450)aCc>aTc	p.T150I	GEMIN8_ENST00000398355.3_Missense_Mutation_p.T150I|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	150					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						ATGCCTCTCGGTCTCTGCAAA	0.443000													60	24					0	0	0.000781405	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017364	93017364	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:93017364C>T	ENST00000523629.1	-	6	1174	c.720G>A	c.(718-720)ggG>ggA	p.G240G	RUNX1T1_ENST00000396218.1_Silent_p.G213G|RUNX1T1_ENST00000520724.1_Silent_p.G203G|RUNX1T1_ENST00000360348.2_Silent_p.G203G|RUNX1T1_ENST00000265814.3_Silent_p.G240G|RUNX1T1_ENST00000436581.2_Silent_p.G251G|RUNX1T1_ENST00000518844.1_Silent_p.G213G|RUNX1T1_ENST00000521553.1_Silent_p.G203G|RUNX1T1_ENST00000422361.2_Silent_p.G203G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	240					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCGCCTCTTCCCGTTTTCGT	0.532000													35	101					0	0	0.000509022	0	0
TACR1	6869	broad.mit.edu	37	2	75425772	75425772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:75425772C>T	ENST00000305249.4	-	1	1054	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TACR1_ENST00000409848.3_Missense_Mutation_p.E97K	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGTACCATTCGTTGTGGACA	0.517000													31	96					0	0	0.000814825	0	0
VGLL2	245806	broad.mit.edu	37	6	117589530	117589530	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:117589530T>C	ENST00000326274.5	+	2	457	c.267T>C	c.(265-267)acT>acC	p.T89T	VGLL2_ENST00000352536.3_Silent_p.T89T	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	89					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TCCTCTTCACTTATTTCCAGG	0.562000													40	64					0	0	0.00111076	0	0
TAF4B	6875	broad.mit.edu	37	18	23861953	23861953	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:23861953G>A	ENST00000269142.5	+	6	1899	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	TAF4B_ENST00000400466.2_Missense_Mutation_p.E301K|TAF4B_ENST00000578121.1_Missense_Mutation_p.E301K	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	301	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AATCGAAGCAGAAGAATTTAC	0.343000													13	31					0	0	0.00185496	0	0
CCDC108	255101	broad.mit.edu	37	2	219903182	219903182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:219903182G>A	ENST00000341552.5	-	4	355	c.272C>T	c.(271-273)tCc>tTc	p.S91F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S91F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S26F|CCDC108_ENST00000295729.2_Missense_Mutation_p.S26F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S80F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S91F|CCDC108_ENST00000324264.6_Missense_Mutation_p.S26F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	91						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCAGGCAGGATCCACCAGA	0.597000													16	32					0	0	0.00074312	0	0
MT1L	4500	broad.mit.edu	37	16	56652683	56652683	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:56652683C>T	ENST00000565768.1	+	0	364					NR_001447.2				metallothionein 1L (gene/pseudogene)																		TTGCTACATTCCTTTTTCTAT	0.423000													9	14					0	0	0.000274275	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121684490	121684490	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:121684490C>T	ENST00000393386.2	+	23	6363	c.5952C>T	c.(5950-5952)ttC>ttT	p.F1984F	PTPRZ1_ENST00000449182.1_Silent_p.F1117F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1984	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATATGTCTTCATTCATGATA	0.393000													23	52					0	0	0.00047179	0	0
USP17L2	377630	broad.mit.edu	37	8	11995377	11995377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:11995377G>A	ENST00000333796.3	-	1	1209	c.893C>T	c.(892-894)cCt>cTt	p.P298L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	298					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AAGGCACTCAGGATATTGCAC	0.483000													12	153					0	0	0.00185496	0	0
GABRA6	2559	broad.mit.edu	37	5	161128738	161128738	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:161128738C>T	ENST00000523217.1	+	9	1533	c.1291C>T	c.(1291-1293)Ctt>Ttt	p.L431F	GABRA6_ENST00000274545.5_Missense_Mutation_p.L441F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	441					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L441V(1)|p.L441F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTAGTTTATCTTTCCAAAGA	0.418000										TCGA Ovarian(5;0.080)			18	20					0	0	0.00121646	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319553	43319553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:43319553C>T	ENST00000321925.4	+	8	1104	c.872C>T	c.(871-873)tCt>tTt	p.S291F	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S291F|SLC14A1_ENST00000535474.1_Missense_Mutation_p.S159F|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.L242F|SLC14A1_ENST00000502059.2_Missense_Mutation_p.S183F|SLC14A1_ENST00000402943.2_Missense_Mutation_p.S186F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S347F|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S347F	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	291			S -> P (in Jk(null)).			integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAACAGCTCTCTGGCCTGC	0.557000													13	38					0	0	0.000219431	0	0
SOGA3	387104	broad.mit.edu	37	6	127797247	127797247	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:127797247G>A	ENST00000556132.1	-	6	2788	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	SOGA3_ENST00000368268.2_Silent_p.L642L|SOGA3_ENST00000525778.1_Silent_p.L642L|SOGA3_ENST00000465909.2_Silent_p.L642L|SOGA3_ENST00000481848.2_Silent_p.L642L	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	642						integral to membrane											AGCTCCGACAGGGATTCGCTC	0.642000													23	73					0	0	0.00188189	0	0
PHKG1	5260	broad.mit.edu	37	7	56149880	56149880	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:56149880G>A	ENST00000452681.2	-	8	859	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PHKG1_ENST00000537360.1_Missense_Mutation_p.P151L|PHKG1_ENST00000297373.2_Missense_Mutation_p.P205L	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	205	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCGTAGCCCGGGTGGTCCTC	0.627000													27	73					0	0	0.00106085	0	0
GFPT2	9945	broad.mit.edu	37	5	179744010	179744010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:179744010G>A	ENST00000253778.8	-	11	1176	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	336					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATTGAAAACTGATTCTGGCTG	0.438000													40	80					0	0	0.000437636	0	0
VWA7	80737	broad.mit.edu	37	6	31744432	31744432	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31744432G>A	ENST00000375686.3	-	2	362	c.125C>T	c.(124-126)tCc>tTc	p.S42F	VWA7_ENST00000375688.4_Missense_Mutation_p.S42F|VWA7_ENST00000447450.1_Missense_Mutation_p.S42F|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	42						extracellular region											GTGGGTGATGGAGCCAGGGGC	0.652000													131	152					0	0	0.000781405	0	0
OR56A4	120793	broad.mit.edu	37	11	6023540	6023540	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6023540A>C	ENST00000330728.4	-	1	884	c.839T>G	c.(838-840)gTg>gGg	p.V280G		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCTAAGCACAACTTTCAA	0.478000													12	12					0	0	0.00185496	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762620	24762620	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:24762620A>G	ENST00000376451.2	+	2	724	c.464A>G	c.(463-465)aAc>aGc	p.N155S	KIAA1217_ENST00000430453.2_Missense_Mutation_p.N358S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.N155S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.N437S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.N155S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.N437S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N437S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N357S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.N155S			Q5T5P2	SKT_HUMAN	KIAA1217	437					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTTATTGTAACCCCTCAATG	0.498000													8	45					0	0	0.000157383	0	0
STAB2	55576	broad.mit.edu	37	12	104078786	104078786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:104078786C>T	ENST00000388887.2	+	27	3125	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	974	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATCTACTTCGTCTGGTGTC	0.453000													73	90					0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55541018	55541018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:55541018G>A	ENST00000220676.1	+	4	4724	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1526					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.E1526K(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)			TATAATTTATGAAATAATCAG	0.318000													10	48					0	0	0.000442599	0	0
CTNND2	1501	broad.mit.edu	37	5	11397202	11397202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:11397202G>A	ENST00000304623.8	-	6	742	c.553C>T	c.(553-555)Cct>Tct	p.P185S	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.P94S|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.P185S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	185					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCTGTGAAGGGGTGGTTTCC	0.602000													14	47					0	0	0.000219431	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967242	41967242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:41967242G>A	ENST00000298919.7	+	10	2269	c.1881G>A	c.(1879-1881)atG>atA	p.M627I	PDZRN4_ENST00000402685.2_Missense_Mutation_p.M887I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.M629I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	887							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCCCAAGATGGAATGGAAGG	0.488000													34	33					0	0	0.00058488	0	0
HSD11B1	3290	broad.mit.edu	37	1	209907681	209907681	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:209907681C>T	ENST00000367028.2	+	7	863	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	HSD11B1_ENST00000367027.3_Missense_Mutation_p.H232Y|HSD11B1_ENST00000261465.1_Missense_Mutation_p.H232Y	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	232					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TGGGATAGTCCATATGCAAGC	0.488000													5	13					0	0	0.00116845	0	0
OTOP3	347741	broad.mit.edu	37	17	72937621	72937621	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:72937621G>A	ENST00000328801.4	+	2	207	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	69						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTCCTGGCTGGTGAGGCATT	0.662000													9	25					0	0	0.000219431	0	0
C10orf68	79741	broad.mit.edu	37	10	32860822	32860822	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:32860822G>A	ENST00000375030.2	+	2	91		c.e2+1		CCDC7_ENST00000362006.5_Splice_Site|C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000572165.1_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68											breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTGAAAAGAGGTAAAACACTT	0.284000													12	11					0	0	0.00136819	0	0
PHKA1	5255	broad.mit.edu	37	X	71877458	71877458	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:71877458C>T	ENST00000373545.3	-	9	1336	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PHKA1_ENST00000339490.3_Missense_Mutation_p.G300R|PHKA1_ENST00000373539.3_Missense_Mutation_p.G300R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G300R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G300R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	300					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTTTATATCCATCTCGTAGA	0.403000													17	11					0	0	0.00152264	0	0
PTGER3	5733	broad.mit.edu	37	1	71418599	71418599	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:71418599C>T	ENST00000356595.4	-	4	1458	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTATTCTGTCTTTACTGTTG	0.408000													6	28					0	0	8.12818e-05	0	0
DNAH2	146754	broad.mit.edu	37	17	7684450	7684450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7684450C>T	ENST00000572933.1	+	39	7554	c.6094C>T	c.(6094-6096)Ccc>Tcc	p.P2032S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2032S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2032					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGATCTGTTTCCCAACATTGA	0.478000													35	155					0	0	0.00195071	0	0
KCND1	3750	broad.mit.edu	37	X	48826418	48826418	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:48826418G>A	ENST00000218176.3	-	1	1558	c.261C>T	c.(259-261)gaC>gaT	p.D87D		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	87						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACATGTCAGGGTCGCGATCGA	0.577000													8	3					0	0	0.000442599	0	0
PTPRO	5800	broad.mit.edu	37	12	15654688	15654688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:15654688C>T	ENST00000281171.4	+	5	1126	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	PTPRO_ENST00000543886.1_Missense_Mutation_p.H266Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H266Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	266	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H266Y(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAACTCTTCCATTTTACAGA	0.398000													4	20					0	0	0.000602214	0	0
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:138341226C>T	ENST00000419765.3	-	6	534	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000288513.5_Silent_p.T15T	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	167						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353000													31	93					0	0	0.000953801	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:181726163C>T	ENST00000526775.1	+	29	4338	c.4173C>T	c.(4171-4173)ttC>ttT	p.F1391F	CACNA1E_ENST00000367570.1_Silent_p.F1410F|CACNA1E_ENST00000367567.4_Silent_p.F1017F|CACNA1E_ENST00000360108.3_Silent_p.F1391F|CACNA1E_ENST00000367573.2_Silent_p.F1410F|CACNA1E_ENST00000358338.5_Silent_p.F1342F|CACNA1E_ENST00000357570.5_Silent_p.F1361F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1410					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGGTCTTCCCCTTCTTCT	0.488000													10	69					0	0	0.000442599	0	0
MBD5	55777	broad.mit.edu	37	2	149227571	149227571	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:149227571T>C	ENST00000407073.1	+	9	3056	c.2059T>C	c.(2059-2061)Ttg>Ctg	p.L687L	MBD5_ENST00000404807.1_Silent_p.L687L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	687						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGACCTGACTTGCTAAGGAA	0.443000													4	16					0	0	0.00024832	0	0
ADAD1	132612	broad.mit.edu	37	4	123317444	123317444	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:123317444C>T	ENST00000296513.2	+	7	821	c.636C>T	c.(634-636)atC>atT	p.I212I	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Silent_p.I194I|ADAD1_ENST00000388724.2_Silent_p.I212I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	212					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCACAGATCGTTAAAGAAA	0.308000													8	40					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179605174	179605174	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179605174G>A	ENST00000589042.1	-	48	13010	c.12786C>T	c.(12784-12786)atC>atT	p.I4262I	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.I3899I|TTN_ENST00000359218.5_Silent_p.I4024I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Silent_p.I3945I|TTN_ENST00000342175.6_Silent_p.I4091I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3945							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGACTCAAGATGAGCGCAC	0.473000													3	7					0	0	6.4e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2910111	2910111	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:2910111G>A	ENST00000520002.1	-	51	8091	c.7536C>T	c.(7534-7536)ttC>ttT	p.F2512F	CSMD1_ENST00000400186.3_Silent_p.F2512F|CSMD1_ENST00000602723.1_Silent_p.F2512F|CSMD1_ENST00000602557.1_Silent_p.F2512F|CSMD1_ENST00000542608.1_Silent_p.F2511F|CSMD1_ENST00000537824.1_Silent_p.F2511F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2512	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCCAAAGTGAACTCGTTCC	0.448000													4	9					0	0	0.00116845	0	0
CWH43	80157	broad.mit.edu	37	4	49009219	49009219	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:49009219G>A	ENST00000226432.4	+	8	1245	c.1060_splice	c.e8-1	p.G354_splice	CWH43_ENST00000513409.1_Splice_Site_p.G327_splice	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	354					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTATAACAGGGACAATGATGT	0.353000													12	16					0	0	0.00185496	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143028681C>T	ENST00000343257.2	+	10	1189	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000													27	65					0	0	0.000409698	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37470731	37470731	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:37470731G>A	ENST00000381792.2	-	12	1500	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.L463F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.L454F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.L454F			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	463					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGAACAGAGGAACTCTCCA	0.622000													8	23					0	0	0.000274275	0	0
CHODL	140578	broad.mit.edu	37	21	19628953	19628953	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:19628953C>T	ENST00000299295.2	+	2	598	c.207C>T	c.(205-207)ctC>ctT	p.L69L	CHODL_ENST00000400131.1_Silent_p.L28L|CHODL_ENST00000400135.1_Silent_p.L28L|CHODL_ENST00000400127.1_Silent_p.L28L|CHODL_ENST00000543733.1_Silent_p.L50L|CHODL_ENST00000338326.3_Silent_p.L28L|CHODL_ENST00000400128.1_Silent_p.L28L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	69	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GAGTCCTCCTCAGCCTTGAGA	0.507000													9	18					0	0	0.000442599	0	0
MYOD1	4654	broad.mit.edu	37	11	17741473	17741473	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:17741473G>A	ENST00000250003.3	+	1	359	c.144G>A	c.(142-144)ccG>ccA	p.P48P		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	48					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						ACCTGGACCCGCGCCTGATGC	0.672000													16	25					0	0	0.00121646	0	0
TCF25	22980	broad.mit.edu	37	16	89965042	89965042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:89965042G>A	ENST00000263346.8	+	10	1156	c.1100G>A	c.(1099-1101)tGc>tAc	p.C367Y	TCF25_ENST00000263347.7_Missense_Mutation_p.C132Y	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	367					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTGGAGTACTGCAAGCTCATC	0.607000													37	74					0	0	0.000814825	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269327	150269327	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150269327C>T	ENST00000255945.2	+	3	344	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.H71Y	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	57							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAAGTGTTTCATTCTGGCAC	0.458000													17	38					0	0	0.00074312	0	0
ANGPT4	51378	broad.mit.edu	37	20	860423	860423	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:860423C>T	ENST00000381922.3	-	6	1122	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	ANGPT4_ENST00000546022.1_Silent_p.V340V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGAAAATTCACGGTGCCAT	0.612000													24	53					0	0	0.000878237	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226788	43226788	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:43226788G>A	ENST00000332499.2	+	1	2105	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	77					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCAGACCCAGGCCTGTCCAG	0.662000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	12					0	0	0.00136819	0	0
FAM110C	642273	broad.mit.edu	37	2	45663	45663	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:45663C>T	ENST00000327669.4	-	1	722	c.723G>A	c.(721-723)tcG>tcA	p.S241S		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	241						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCACACAGTCCGACCCCGCGG	0.692000													9	11					0	0	0.000978159	0	0
RP1	6101	broad.mit.edu	37	8	55541288	55541288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:55541288G>A	ENST00000220676.1	+	4	4994	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1616					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACAGTGGCGAACTTACCCA	0.398000													28	60					0	0	0.00106085	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461681	50461681	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:50461681C>T	ENST00000447370.2	-	8	1600	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	504					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGTGACCTCGAAGGAGCCC	0.692000													10	25					0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9069895G>A	ENST00000397910.4	-	3	17754	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTACAAAAGGAAAAGTGGAG	0.478000													34	89					0	0	0.000953801	0	0
CASZ1	54897	broad.mit.edu	37	1	10713679	10713679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:10713679G>A	ENST00000377022.3	-	11	2752	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	CASZ1_ENST00000344008.5_Missense_Mutation_p.S812F|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CACAGGCAGGGAGGTGCTCCC	0.711000													4	9					0	0	0.00024832	0	0
NPAS2	4862	broad.mit.edu	37	2	101587467	101587467	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:101587467G>A	ENST00000335681.5	+	12	1356	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	NPAS2_ENST00000542504.1_Silent_p.R422R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	357					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGATGTCCGGGTGGAAAGGA	0.567000													23	50					0	0	0.00106085	0	0
DEFB4A	1673	broad.mit.edu	37	8	7752252	7752252	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:7752252C>T	ENST00000302247.2	+	1	102	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_004942.2	NP_004933.1	O15263	DFB4A_HUMAN	defensin, beta 4A	6					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response	extracellular region				lung(1)	1						TCTTGTATCTCCTCTTCTCGT	0.527000													19	107					0	0	0.000878237	0	0
ZNF813	126017	broad.mit.edu	37	19	53990010	53990010	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53990010T>G	ENST00000396403.4	+	3	268	c.140T>G	c.(139-141)cTg>cGg	p.L47R	ZNF813_ENST00000396421.4_Missense_Mutation_p.L47R	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTGGTCTCCCTGGGTGAGGAT	0.488000													23	135					0	0	0.000509022	0	0
C3orf22	152065	broad.mit.edu	37	3	126270960	126270960	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:126270960G>A	ENST00000318225.2	-	3	473	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	32								p.S32L(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGTCAGCCACGACAACCTGCA	0.577000													23	31					0	0	0.000586117	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687287	27687287	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:27687287G>A	ENST00000438700.3	-	4	2357	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	747					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCCCCGGGAAGAAATGAT	0.318000													15	23					0	0	0.000422831	0	0
AOC2	314	broad.mit.edu	37	17	41001353	41001353	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:41001353G>A	ENST00000253799.3	+	2	1866	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	AOC2_ENST00000452774.2_Intron	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	613					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACATACCCCTGGAGAGTGACA	0.637000													16	105					0	0	0.000422831	0	0
POM121L12	285877	broad.mit.edu	37	7	53103759	53103759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:53103759G>A	ENST00000408890.4	+	1	411	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	132										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AACCCAGGACGGACCTGGAGC	0.721000													14	30					0	0	0.000566183	0	0
CSMD1	64478	broad.mit.edu	37	8	2876166	2876166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:2876166G>A	ENST00000520002.1	-	53	8420	c.7865C>T	c.(7864-7866)tCg>tTg	p.S2622L	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2622L|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2621L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2622	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCACACGAGATAACTAG	0.393000													38	57					0	0	0.000437636	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349157	38349157	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38349157C>T	ENST00000273173.4	+	3	812	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	241						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTTGTTCTTTCGCTTTGGCAT	0.572000													62	96					0	0	0.000781405	0	0
CAPN13	92291	broad.mit.edu	37	2	30966384	30966384	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:30966384G>A	ENST00000295055.8	-	13	1486	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	CAPN13_ENST00000534090.2_Missense_Mutation_p.S437L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	437					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTATTATTTGAGCTTTGGAC	0.458000													63	115					0	0	0.000781405	0	0
LAMB2	3913	broad.mit.edu	37	3	49166499	49166499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:49166499G>A	ENST00000418109.1	-	14	1849	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	LAMB2_ENST00000305544.4_Missense_Mutation_p.P562L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	562	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCAGGAAGGGCCGGAAGTA	0.622000													13	55					0	0	0.000422831	0	0
SPINK6	404203	broad.mit.edu	37	5	147593499	147593499	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:147593499C>T	ENST00000325630.2	+	3	364	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	36	Kazal-like.		P -> T (in dbSNP:rs12186491).			extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCCCAAGGTCTACT	0.458000													13	40					0	0	0.000308642	0	0
HOXC11	3227	broad.mit.edu	37	12	54367499	54367499	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:54367499C>T	ENST00000546378.1	+	1	590	c.474C>T	c.(472-474)gcC>gcT	p.A158A	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.A158A|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	158					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A158A(1)		large_intestine(1)|ovary(1)	2						TCGACAACGCCTACTGCGGTG	0.716000			T	NUP98	AML								16	57					0	0	0.000308642	0	0
DACH1	1602	broad.mit.edu	37	13	72063265	72063265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:72063265G>A	ENST00000305425.4	-	7	2014	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	DACH1_ENST00000359684.2_Missense_Mutation_p.S583F|DACH1_ENST00000354591.4_Missense_Mutation_p.S329F|DACH1_ENST00000313174.7_Missense_Mutation_p.S383F	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTTGGTGTAGAAAGCGGGGT	0.443000													72	121					0	0	0.000781405	0	0
POLR2A	5430	broad.mit.edu	37	17	7402454	7402454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7402454C>T	ENST00000322644.6	+	9	1831	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	POLR2A_ENST00000572844.1_Missense_Mutation_p.P478S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	478					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCGCATTCTCCCATGGTCTAC	0.557000													37	77					0	0	0.00170553	0	0
ABCA4	24	broad.mit.edu	37	1	94528755	94528755	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:94528755G>A	ENST00000370225.3	-	12	1759	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	ABCA4_ENST00000535735.1_Missense_Mutation_p.P558L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	558					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGGTCCAGGGATACATGTC	0.473000													29	106					0	0	0.000878237	0	0
DOK2	9046	broad.mit.edu	37	8	21768240	21768240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:21768240C>T	ENST00000276420.4	-	4	820	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	DOK2_ENST00000544659.1_Missense_Mutation_p.G34R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	188	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G188*(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCTGGGTCCCTGGCTCGGGC	0.632000													18	26					0	0	0.00152264	0	0
SMG8	55181	broad.mit.edu	37	17	57287525	57287525	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:57287525C>T	ENST00000543872.2	+	2	377	c.113C>T	c.(112-114)cCg>cTg	p.P38L	SMG8_ENST00000578922.1_Missense_Mutation_p.P38L|SMG8_ENST00000300917.5_Missense_Mutation_p.P38L|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCTGGCGGACCGGAGCCTCCA	0.602000													14	26					0	0	0.000566183	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834576	125834576	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:125834576G>A	ENST00000299308.3	+	2	639	c.631G>A	c.(631-633)Ggg>Agg	p.G211R		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	211						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCCTGCTCGGGGGCACCAC	0.627000													8	37					0	0	0.000157383	0	0
SRBD1	55133	broad.mit.edu	37	2	45715432	45715432	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:45715432C>T	ENST00000263736.4	-	15	1975	c.1913G>A	c.(1912-1914)aGc>aAc	p.S638N	SRBD1_ENST00000535761.1_Missense_Mutation_p.S157N	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	638				S -> G (in Ref. 1; AK056536).	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGCTTCAGGGCTGACACTGTA	0.413000													37	65					0	0	0.000781405	0	0
FCER1A	2205	broad.mit.edu	37	1	159273743	159273743	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:159273743G>A	ENST00000368115.1	+	4	201	c.102G>A	c.(100-102)ttG>ttA	p.L34L	FCER1A_ENST00000368114.1_Intron	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	34	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AGGTCTCCTTGAACCCTCCAT	0.353000													12	20					0	0	0.00185496	0	0
SZT2	23334	broad.mit.edu	37	1	43909455	43909455	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:43909455C>T	ENST00000562955.1	+	61	8642	c.8642C>T	c.(8641-8643)tCa>tTa	p.S2881L	SZT2_ENST00000372442.1_Missense_Mutation_p.S2039L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2938						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGGCCCCCCTCACCCGCCCGC	0.582000													49	72					0	0	0.000781405	0	0
HPGDS	27306	broad.mit.edu	37	4	95229885	95229885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:95229885C>T	ENST00000295256.5	-	4	326	c.236G>A	c.(235-237)gGa>gAa	p.G79E	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	79	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TTCTGTGTTTCCAGCCAAATC	0.338000													22	33					0	0	0.00152264	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77255678G>A	ENST00000251089.2	-	10	2018	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.L201F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	636										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562000													35	61					0	0	0.00170553	0	0
FREM2	341640	broad.mit.edu	37	13	39438468	39438468	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:39438468C>G	ENST00000280481.7	+	16	7924	c.7708C>G	c.(7708-7710)Cct>Gct	p.P2570A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2570					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCCTCAGCCCTGATGGCAC	0.443000													16	38					0	0	0.000566183	0	0
DNER	92737	broad.mit.edu	37	2	230456412	230456412	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:230456412G>A	ENST00000341772.4	-	2	603	c.469C>T	c.(469-471)Cct>Tct	p.P157S		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	157					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAGTAGCAGGAACAGGCTGA	0.552000													15	48					0	0	0.000566183	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448589	142448589	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142448589C>T	ENST00000422143.2	+	0	250																											TGACACTGATCGCAACTGCAA	0.507000													10	16					0	0	0.000442599	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185516	140185516	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:140185516G>A	ENST00000458420.3	+	8	1477	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	429					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGCGGAAGGACTTCGACC	0.537000										HNSCC(16;0.037)			9	51					0	0	0.000442599	0	0
APOBR	55911	broad.mit.edu	37	16	28506011	28506011	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:28506011C>T	ENST00000564831.1	+	1	42	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CLN3_ENST00000569430.1_Intron|CLN3_ENST00000567160.1_Intron|APOBR_ENST00000431282.1_Silent_p.F3F|APOBR_ENST00000328423.5_Silent_p.F3F	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	3					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGATGGACTTCCTCCGGCTAT	0.592000													36	72					0	0	0.00148497	0	0
CRHR1	1394	broad.mit.edu	37	17	43906643	43906643	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:43906643C>T	ENST00000314537.5	+	5	615	c.390C>T	c.(388-390)tcC>tcT	p.S130S	CRHR1_ENST00000339069.5_Silent_p.S29S|CRHR1_ENST00000398285.3_Silent_p.S130S|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Silent_p.S90S|CRHR1_ENST00000577353.1_Silent_p.S130S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	130					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGTATCTCCCTGGTGGCCC	0.582000													8	25					0	0	0.000978159	0	0
TRPM2	7226	broad.mit.edu	37	21	45845602	45845602	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:45845602G>A	ENST00000397928.1	+	25	4132	c.3687G>A	c.(3685-3687)aaG>aaA	p.K1229K	TRPM2_ENST00000300482.5_Silent_p.K1229K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.K1209K|TRPM2_ENST00000397932.2_Silent_p.K1279K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1229						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGGCAGGAAGAAGACGGAGG	0.682000													3	1					0	0	6.4e-05	0	0
NFATC1	4772	broad.mit.edu	37	18	77170939	77170939	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:77170939C>T	ENST00000253506.5	+	2	1033	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	NFATC1_ENST00000329101.4_Missense_Mutation_p.P209S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P209S|NFATC1_ENST00000586434.1_Missense_Mutation_p.P209S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P209S|NFATC1_ENST00000587635.1_Missense_Mutation_p.P222S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P222S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.P222S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P222S|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	222	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGAGGGCTTTCCCCGCGGGCT	0.706000													17	35					0	0	0.00074312	0	0
DHX35	60625	broad.mit.edu	37	20	37634887	37634887	+	Silent	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:37634887C>A	ENST00000252011.3	+	12	1143	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_ENST00000373323.4_Silent_p.P339P|DHX35_ENST00000373325.2_Silent_p.P370P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	370	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517000													9	268					0.000274275	0.0017354	0.000274275	1	0
NGF	4803	broad.mit.edu	37	1	115829102	115829102	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115829102G>A	ENST00000369512.2	-	3	483	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	105					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CACCGACCTCGAAGTCCAGAT	0.587000													23	17					0	0	0.00188189	0	0
GJA1	2697	broad.mit.edu	37	6	121768150	121768150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:121768150C>T	ENST00000282561.3	+	2	314	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	53					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GTCTGCCTTTCGTTGTAACAC	0.502000													11	51					0	0	0.00136819	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104201504	104201504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:104201504C>T	ENST00000202556.9	-	17	3542	c.3260G>A	c.(3259-3261)cGa>cAa	p.R1087Q	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_3'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1087					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCGAGTGTTCGCTGTCGGGG	0.577000													11	51					0	0	0.00136819	0	0
COL4A3	1285	broad.mit.edu	37	2	228137771	228137771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:228137771G>A	ENST00000396578.3	+	26	2027	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G622E(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGACCCCAAGGAGAACCTGGT	0.622000													14	41					0	0	0.000566183	0	0
CSMD1	64478	broad.mit.edu	37	8	3443717	3443717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:3443717G>A	ENST00000520002.1	-	10	1721	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	CSMD1_ENST00000400186.3_Missense_Mutation_p.T389I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T389I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T388I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T389I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T388I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T388I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	389	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCTGACAGGTGATGCTTTT	0.468000													6	10					0	0	0.000157383	0	0
AHNAK	79026	broad.mit.edu	37	11	62288329	62288329	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62288329G>A	ENST00000378024.4	-	5	13834	c.13560C>T	c.(13558-13560)tcC>tcT	p.S4520S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4520					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)				TGTCACTCATGGAGATTTGTG	0.428000													11	89					0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92086160	92086160	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:92086160G>A	ENST00000298047.6	+	1	899	c.882G>A	c.(880-882)gcG>gcA	p.A294A	FAT3_ENST00000541502.1_Silent_p.A294A|FAT3_ENST00000525166.1_Silent_p.A144A|FAT3_ENST00000409404.2_Silent_p.A294A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	294	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGATGGAGCGAATGGAGAGA	0.438000										TCGA Ovarian(4;0.039)			34	185					0	0	0.000692331	0	0
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:56270245C>T	ENST00000327381.5	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	272						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383000													13	16					0	0	0.00185496	0	0
PKIB	5570	broad.mit.edu	37	6	123039008	123039008	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:123039008G>A	ENST00000392490.1	+	3	466	c.69G>A	c.(67-69)agG>agA	p.R23R	PKIB_ENST00000354275.2_Silent_p.R23R|PKIB_ENST00000368448.1_Silent_p.R23R|PKIB_ENST00000368446.1_Silent_p.R32R|PKIB_ENST00000258014.3_Silent_p.R30R|PKIB_ENST00000392491.2_Silent_p.R23R|PKIB_ENST00000368452.2_Silent_p.R23R	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	23		Important for inhibition (By similarity).					cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		CTTCAGCAAGGGCAGGCCGCC	0.498000													9	47					0	0	0.000274275	0	0
OR10A6	390093	broad.mit.edu	37	11	7950073	7950073	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7950073A>G	ENST00000309838.2	-	1	136	c.137T>C	c.(136-138)aTa>aCa	p.I46T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACGATGACTATAATAATGGC	0.468000													7	28					0	0	8.12818e-05	0	0
TMED8	283578	broad.mit.edu	37	14	77812698	77812698	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77812698G>A	ENST00000216468.7	-	3	376	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	107					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTACCTCATTGAGGACCTGGG	0.532000													16	26					0	0	0.000566183	0	0
LCE1A	353131	broad.mit.edu	37	1	152799975	152799975	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:152799975G>A	ENST00000335123.2	+	1	27	c.27G>A	c.(25-27)caG>caA	p.Q9Q		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	9	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGCAGCAGTGCCAGCCCC	0.612000													13	58					0	0	0.000219431	0	0
THSD7B	80731	broad.mit.edu	37	2	138163337	138163337	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:138163337G>A	ENST00000409968.1	+	13	2833	c.2655G>A	c.(2653-2655)acG>acA	p.T885T	THSD7B_ENST00000272643.3_Silent_p.T885T|THSD7B_ENST00000413152.2_Silent_p.T854T|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCTCCACGAACTGTGAAG	0.498000													4	15					0	0	0.00024832	0	0
GBP2	2634	broad.mit.edu	37	1	89573959	89573959	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:89573959G>A	ENST00000370466.3	-	11	1943	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	559					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCTCCTTGAGAAGGCGTTCC	0.408000													11	38					0	0	0.000673444	0	0
C11orf40	143501	broad.mit.edu	37	11	4598979	4598979	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4598979C>T	ENST00000307616.1	-	1	71	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	24										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		gttgtgggtcccctctgtcca	0.567000													4	8					0	0	0.00024832	0	0
CNGA3	1261	broad.mit.edu	37	2	99012882	99012882	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:99012882A>C	ENST00000393504.1	+	8	1666	c.1249A>C	c.(1249-1251)Att>Ctt	p.I417L	CNGA3_ENST00000409937.1_Missense_Mutation_p.I421L|CNGA3_ENST00000436404.2_Missense_Mutation_p.I399L|CNGA3_ENST00000272602.2_Missense_Mutation_p.I417L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	417					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGCCAAGATTGATTCCAT	0.512000													24	47					0	0	0.000375601	0	0
ADCY6	112	broad.mit.edu	37	12	49167748	49167748	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49167748G>A	ENST00000307885.4	-	14	3111	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	ADCY6_ENST00000357869.3_Intron|ADCY6_ENST00000550422.1_Intron|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	806					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTGGGCATGGTGCCCTCACA	0.612000													11	17					0	0	0.00136819	0	0
TMC3	342125	broad.mit.edu	37	15	81624945	81624945	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:81624945C>T	ENST00000558726.1	-	22	3256	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E1040K|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	1040						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGTCAGATTCCGTGAGGGAT	0.617000													10	25					0	0	0.000442599	0	0
ZNF665	79788	broad.mit.edu	37	19	53668737	53668737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53668737G>A	ENST00000600412.1	-	2	926	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H336Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTGTCTGATGGGTAGTCAGG	0.438000													37	101					0	0	0.000814825	0	0
DET1	55070	broad.mit.edu	37	15	89074362	89074362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:89074362G>A	ENST00000564406.1	-	3	768	c.608C>T	c.(607-609)tCc>tTc	p.S203F	DET1_ENST00000444300.1_Missense_Mutation_p.S203F|DET1_ENST00000268148.8_Missense_Mutation_p.S192F|DET1_ENST00000558413.1_Intron	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	192						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GATATGGAGGGAATAGTCTTC	0.512000													7	23					0	0	8.12818e-05	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411545	105411545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:105411545C>T	ENST00000333244.5	-	7	10362	c.10243G>A	c.(10243-10245)Ggc>Agc	p.G3415S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3415						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTTGGGGCCCTTGATGTCC	0.627000													50	225					0	0	0.000781405	0	0
TRIM17	51127	broad.mit.edu	37	1	228596798	228596798	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:228596798C>T	ENST00000456946.2	-	6	1333	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGTGGCTTCCGAGGCTAGG	0.577000													4	26					0	0	0.00024832	0	0
BAGE2	85319	broad.mit.edu	37	21	11039402	11039402	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:11039402G>A	ENST00000470054.1	-	0	801									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)		AGCCTCATTAGAAATCTGTTT	0.299000													6	97					0	0	8.12818e-05	0	0
FAM83B	222584	broad.mit.edu	37	6	54806389	54806389	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54806389G>A	ENST00000306858.7	+	5	2736	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	874								p.E874K(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGTCCAGTTGAAAGCAAGTT	0.433000													5	13					0	0	8.12818e-05	0	0
BUB1B	701	broad.mit.edu	37	15	40476063	40476063	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:40476063C>T	ENST00000287598.6	+	6	925	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R258C	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R244S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCCAATCATCCGTGTAGGAGG	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				12	24					0	0	0.00185496	0	0
C4orf22	255119	broad.mit.edu	37	4	81283940	81283940	+	Silent	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:81283940A>G	ENST00000358105.3	+	2	193	c.144A>G	c.(142-144)ctA>ctG	p.L48L	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Silent_p.L48L	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	48										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TGGTGGAGCTAGGCTACCGAG	0.448000													38	95					0	0	0.00195071	0	0
ITGA8	8516	broad.mit.edu	37	10	15647736	15647736	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:15647736G>A	ENST00000378076.3	-	19	2310	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	653					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTAGCCGACAGCTTCAAGTCA	0.388000													6	26					0	0	0.000157383	0	0
EPHA4	2043	broad.mit.edu	37	2	222428737	222428737	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:222428737C>T	ENST00000281821.2	-	3	578	c.537G>A	c.(535-537)aaG>aaA	p.K179K	EPHA4_ENST00000392071.4_Silent_p.K128K|EPHA4_ENST00000409854.1_Silent_p.K179K|EPHA4_ENST00000409938.1_Silent_p.K179K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	179						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTAAAACCCCTTTTTGCTTA	0.512000													34	81					0	0	0.000814825	0	0
ZNF274	10782	broad.mit.edu	37	19	58724216	58724216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:58724216C>T	ENST00000326804.4	+	9	2125	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	ZNF274_ENST00000424679.2_Missense_Mutation_p.H451Y|ZNF274_ENST00000345813.3_Missense_Mutation_p.H524Y|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	557					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.H524N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCAGAGAGTTCATTCTGGAGA	0.507000													34	54					0	0	0.000491102	0	0
USP29	57663	broad.mit.edu	37	19	57641322	57641322	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57641322A>G	ENST00000254181.4	+	4	1733	c.1279A>G	c.(1279-1281)Aat>Gat	p.N427D	USP29_ENST00000598197.1_Missense_Mutation_p.N427D	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	427					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGTTGCTAATTTTGAGTT	0.408000													23	67					0	0	0.000375601	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720311	720311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:720311G>A	ENST00000406797.1	-	3	404	c.230C>T	c.(229-231)tCc>tTc	p.S77F	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.S77F|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.S77F|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.S77F|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.S77F	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	77	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.S77F(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTCATCATGGGAGTCCGACTG	0.602000													31	53					0	0	0.00058488	0	0
GPR128	84873	broad.mit.edu	37	3	100354610	100354610	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:100354610C>T	ENST00000273352.3	+	5	805	c.537C>T	c.(535-537)atC>atT	p.I179I	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	179					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTGAGAACATCACTAGTGCTA	0.343000													7	32					0	0	0.000157383	0	0
FOXA3	3171	broad.mit.edu	37	19	46375805	46375805	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:46375805C>T	ENST00000302177.2	+	2	739	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	181					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GTGGCGCGTTCCCCAGACAAG	0.582000													18	43					0	0	0.00152264	0	0
PTPRD	5789	broad.mit.edu	37	9	8465523	8465523	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:8465523G>A	ENST00000381196.4	-	29	4200	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	PTPRD_ENST00000537002.1_Silent_p.L805L|PTPRD_ENST00000397606.3_Silent_p.L798L|PTPRD_ENST00000397611.3_Silent_p.L805L|PTPRD_ENST00000486161.1_Silent_p.L808L|PTPRD_ENST00000356435.5_Silent_p.L1219L|PTPRD_ENST00000540109.1_Silent_p.L1219L|PTPRD_ENST00000397617.3_Silent_p.L798L|PTPRD_ENST00000360074.4_Silent_p.L1206L|PTPRD_ENST00000358503.5_Silent_p.L1197L|PTPRD_ENST00000355233.5_Silent_p.L808L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1219					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCACTTTGGAGTTGCTTGT	0.403000										TSP Lung(15;0.13)			8	8					0	0	0.000442599	0	0
SPATA20	64847	broad.mit.edu	37	17	48628483	48628483	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48628483A>G	ENST00000006658.6	+	12	1628	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	SPATA20_ENST00000393244.3_Missense_Mutation_p.K443R|SPATA20_ENST00000356488.4_Missense_Mutation_p.K487R|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	487					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCTGGAGAAGCTCTTCCAG	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	20					0	0	0.000442599	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955494	18955494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:18955494G>A	ENST00000302797.3	-	1	1062	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	280					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTTGACGCTGCCTAAAGGAG	0.498000													14	68					0	0	0.000308642	0	0
KLHL40	131377	broad.mit.edu	37	3	42727348	42727348	+	Missense_Mutation	SNP	G	G	A	rs144461124	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:42727348G>A	ENST00000287777.4	+	1	338	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGTGTCCCCGGACGTGGTGGC	0.677000													6	30					0	0	0.00116845	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853742	22853742	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:22853742C>T	ENST00000283645.4	+	12	1510	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L460L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	460					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGGTCTCCCTCCTTTTCTCTC	0.537000													7	13					0	0	8.12818e-05	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646701	4646701	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:4646701C>T	ENST00000433935.1	+	6	1305	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	ZMYND15_ENST00000592813.1_Silent_p.F416F|ZMYND15_ENST00000269289.6_Silent_p.F416F|ZMYND15_ENST00000573751.2_Silent_p.F416F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	416							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GCCCGGGCTTCTCCAGACACC	0.627000													41	149					0	0	0.000680045	0	0
PLCG2	5336	broad.mit.edu	37	16	81946258	81946258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:81946258C>T	ENST00000359376.3	+	19	2205	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	664	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGGATTCCCCGGGACGGG	0.632000													13	31					0	0	0.000219431	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438365	25438365	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:25438365G>A	ENST00000424208.1	+	0	1224				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTGGTGCACTGAAGATTGGGC	0.602000													17	40					0	0	0.000566183	0	0
TEX14	56155	broad.mit.edu	37	17	56679191	56679191	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56679191C>T	ENST00000389934.3	-	13	1771	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	TEX14_ENST00000349033.5_Missense_Mutation_p.E552K|TEX14_ENST00000240361.8_Missense_Mutation_p.E558K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	558						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTATGATTTCCATGTCAGGT	0.453000													35	50					0	0	0.000953801	0	0
BPIFB6	128859	broad.mit.edu	37	20	31623453	31623453	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:31623453G>A	ENST00000349552.1	+	6	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	184						extracellular region	lipid binding										TGGTGTATGTGAACAGGAAGT	0.552000													27	52					0	0	0.00058488	0	0
NCAM1	4684	broad.mit.edu	37	11	113103477	113103477	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113103477A>G	ENST00000316851.7	+	11	1433	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	NCAM1_ENST00000533760.1_Missense_Mutation_p.N360S|NCAM1_ENST00000401611.2_Missense_Mutation_p.N487S|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	488	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGAACTACAACTGTACTGCA	0.488000													10	57					0	0	0.000978159	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70945777	70945777	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70945777G>A	ENST00000359655.4	+	2	366	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	102					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTACAAGAGGAAAGAAA	0.343000													63	81					0	0	0.000781405	0	0
CCDC158	339965	broad.mit.edu	37	4	77288720	77288720	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:77288720G>A	ENST00000388914.3	-	11	1709	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	519										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GGAGCTTTGTGATCTCTGCAT	0.493000													26	43					0	0	0.00106085	0	0
MYH1	4619	broad.mit.edu	37	17	10417207	10417207	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10417207G>A	ENST00000226207.5	-	8	766	c.672C>T	c.(670-672)atC>atT	p.I224I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	224	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTTGGCACTGATGATTTGAT	0.532000													16	25					0	0	0.00074312	0	0
TRGC1	6966	broad.mit.edu	37	7	38305071	38305071	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:38305071C>T	ENST00000443402.2	-	0	208					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AGCTAAATTTCATGTATGTGT	0.393000													48	95					0	0	0.000781405	0	0
OR6A2	8590	broad.mit.edu	37	11	6816561	6816561	+	Missense_Mutation	SNP	G	G	A	rs151066337		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6816561G>A	ENST00000332601.3	-	1	567	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127C(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATATAGCGATCATAGGCC	0.527000													5	7					0	0	0.000602214	0	0
OXNAD1	92106	broad.mit.edu	37	3	16312571	16312571	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:16312571C>T	ENST00000285083.5	+	3	577	c.112C>T	c.(112-114)Cta>Tta	p.L38L	OXNAD1_ENST00000435829.2_Silent_p.L56L|OXNAD1_ENST00000605932.1_Silent_p.L38L|OXNAD1_ENST00000544043.1_Silent_p.L56L|OXNAD1_ENST00000606098.1_Silent_p.L38L	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	38							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CCACCTTACTCTAACCAGGTG	0.478000													11	86					0	0	0.000978159	0	0
NRP2	8828	broad.mit.edu	37	2	206608133	206608133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:206608133G>A	ENST00000360409.3	+	9	2289	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S	NRP2_ENST00000357785.5_Missense_Mutation_p.G500S|NRP2_ENST00000272849.3_Missense_Mutation_p.G500S|NRP2_ENST00000540841.1_Missense_Mutation_p.G500S|NRP2_ENST00000417189.1_Missense_Mutation_p.G500S|NRP2_ENST00000355117.4_Missense_Mutation_p.G500S|NRP2_ENST00000540178.1_Missense_Mutation_p.G500S|NRP2_ENST00000412873.2_Missense_Mutation_p.G500S|NRP2_ENST00000357118.4_Missense_Mutation_p.G500S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	500	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G500C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GACAGTGAAAGGTGTCATCAT	0.577000													27	67					0	0	0.000720815	0	0
SCN4A	6329	broad.mit.edu	37	17	62045702	62045702	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62045702G>A	ENST00000578147.1	-	6	793	c.717C>T	c.(715-717)atC>atT	p.I239I	SCN4A_ENST00000435607.1_Silent_p.I239I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	239					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCCCACGATCGTCTTCA	0.602000													27	53					0	0	0.00127121	0	0
NLRP11	204801	broad.mit.edu	37	19	56307471	56307471	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:56307471G>A	ENST00000443188.1	-	8	3027	c.2317C>T	c.(2317-2319)Ccc>Tcc	p.P773S	NLRP11_ENST00000592953.1_Missense_Mutation_p.P674S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P773S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P719S|NLRP11_ENST00000360133.3_Missense_Mutation_p.P719S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	773							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTGCAGTTGGGATGAAGCAAG	0.483000													114	218					0	0	0.000781405	0	0
IGSF10	285313	broad.mit.edu	37	3	151165848	151165848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:151165848C>T	ENST00000282466.3	-	4	1920	c.1921G>A	c.(1921-1923)Ggt>Agt	p.G641S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	641	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGATAATAACCTTGGTCTTTC	0.423000													10	62					0	0	0.000978159	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375744	65375744	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65375744G>A	ENST00000309100.3	-	2	1400	c.915C>T	c.(913-915)gtC>gtT	p.V305V	MAP3K11_ENST00000530153.1_Silent_p.V48V	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	305	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGCACCTCCAGACGTCACTGC	0.627000													18	25					0	0	0.00121646	0	0
SOS2	6655	broad.mit.edu	37	14	50655284	50655284	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:50655284C>T	ENST00000216373.5	-	5	919	c.645G>A	c.(643-645)cgG>cgA	p.R215R	SOS2_ENST00000543680.1_Silent_p.R215R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	215	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTTAATTCCCGTAGATACT	0.353000													17	31					0	0	0.00074312	0	0
RELN	5649	broad.mit.edu	37	7	103244906	103244906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:103244906C>T	ENST00000428762.1	-	23	3192	c.3033G>A	c.(3031-3033)tgG>tgA	p.W1011*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W1011*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1011*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1011					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTGGCTCCAGCGGAAAC	0.498000													10	22					0	0	0.000673444	0	0
OR5M1	390168	broad.mit.edu	37	11	56380844	56380844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:56380844C>T	ENST00000526538.1	-	1	134	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCAGCAGGATCATGCACAGGT	0.478000													10	12					0	0	0.000673444	0	0
BRINP2	57795	broad.mit.edu	37	1	177225132	177225132	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:177225132C>T	ENST00000361539.4	+	3	659	c.347C>T	c.(346-348)cCa>cTa	p.P116L		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		116						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTCTTGCCCCAGAGTTTATC	0.468000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	77					0	0	0.000673444	0	0
PSMB10	5699	broad.mit.edu	37	16	67969901	67969901	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67969901G>A	ENST00000358514.4	-	4	685	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GAGTGACCGTGGCCACGCGGG	0.677000													17	39					0	0	0.000958276	0	0
FCRL5	83416	broad.mit.edu	37	1	157497579	157497579	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:157497579G>A	ENST00000361835.3	-	9	1945	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	FCRL5_ENST00000368190.3_Silent_p.I596I|FCRL5_ENST00000368191.3_Silent_p.I511I|FCRL5_ENST00000356953.4_Silent_p.I596I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	596	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTACAGGATTGGGGGAG	0.597000													10	47					0	0	0.000673444	0	0
MLLT6	4302	broad.mit.edu	37	17	36865786	36865786	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:36865786C>T	ENST00000325718.7	+	6	601	c.510C>T	c.(508-510)aaC>aaT	p.N170N	MLLT6_ENST00000378137.5_Silent_p.N170N	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	170					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGTGGACAACGTCAAGTACT	0.552000			T	MLL	AL								9	23					0	0	0.000978159	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693052	69693052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:69693052C>T	ENST00000265403.7	+	5	1120	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P281S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	365					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCTAGGTCATCCAAAAACCAG	0.383000													11	16					0	0	0.000219431	0	0
ZNF77	58492	broad.mit.edu	37	19	2939291	2939291	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:2939291G>A	ENST00000314531.4	-	2	210	c.118C>T	c.(118-120)Ctt>Ttt	p.L40F		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAGGCAAGGTTCCTGCAG	0.562000													19	36					0	0	0.00074312	0	0
NFXL1	152518	broad.mit.edu	37	4	47907345	47907345	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:47907345A>G	ENST00000507489.1	-	4	601	c.425T>C	c.(424-426)tTa>tCa	p.L142S	NFXL1_ENST00000329043.3_Missense_Mutation_p.L142S|NFXL1_ENST00000381538.3_Missense_Mutation_p.L142S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	142						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGTTCGCTCTAATTCACGTGT	0.343000													11	74					0	0	0.000978159	0	0
PRKCH	5583	broad.mit.edu	37	14	61920070	61920070	+	Splice_Site	SNP	C	C	T	rs141322283		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:61920070C>T	ENST00000332981.5	+	7	1344	c.960_splice	c.e7+1	p.S320_splice	PRKCH_ENST00000555082.1_Splice_Site_p.S159_splice	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	320					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCTCCAACCTCGGTGAGACTT	0.483000													6	26					0	0	8.12818e-05	0	0
WASH3P	374666	broad.mit.edu	37	15	102516443	102516443	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:102516443G>A	ENST00000557932.1	+	0	1391																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ACAGGCAGAGGAGGACGAGGA	0.657000													6	62					0	0	0.000157383	0	0
PARM1	25849	broad.mit.edu	37	4	75937974	75937974	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:75937974G>A	ENST00000307428.7	+	2	595	c.383G>A	c.(382-384)gGc>gAc	p.G128D	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	128					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACAGCTCGGGCACTCCTGAA	0.577000													20	83					0	0	0.000958276	0	0
NPSR1	387129	broad.mit.edu	37	7	34888270	34888270	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:34888270C>T	ENST00000360581.1	+	8	1148	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	NPSR1_ENST00000531252.1_Silent_p.P329P|NPSR1_ENST00000381539.3_Silent_p.P340P|NPSR1_ENST00000359791.1_Silent_p.P340P|NPSR1_ENST00000381542.1_Silent_p.P274P	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	340						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTCTTTCCCCTGCAGGTAAG	0.512000													43	90					0	0	0.000680045	0	0
FGD6	55785	broad.mit.edu	37	12	95603831	95603831	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:95603831G>A	ENST00000343958.4	-	2	1452	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	FGD6_ENST00000546711.1_Missense_Mutation_p.S410F|FGD6_ENST00000549499.1_Missense_Mutation_p.S410F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	410					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTTTCAAAGGAAGTTGTTTC	0.378000													23	92					0	0	0.00106085	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580457	77580457	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77580457C>T	ENST00000361786.2	+	4	1313	c.996C>T	c.(994-996)atC>atT	p.I332I	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	332										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TGCTGGAGATCACTTTGAAAA	0.463000													25	32					0	0	0.000375601	0	0
TRHDE	29953	broad.mit.edu	37	12	72893359	72893359	+	Missense_Mutation	SNP	G	G	A	rs147694605		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:72893359G>A	ENST00000261180.4	+	6	1627	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	511					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E511K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTATCACAGGAAGTGCTGCA	0.453000													6	4					0	0	8.12818e-05	0	0
UBR4	23352	broad.mit.edu	37	1	19415264	19415264	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:19415264G>A	ENST00000375267.2	-	98	14422	c.14419C>T	c.(14419-14421)Ctg>Ttg	p.L4807L	UBR4_ENST00000375224.1_Silent_p.L514L|UBR4_ENST00000429347.2_Silent_p.L330L|UBR4_ENST00000375254.3_Silent_p.L4807L|UBR4_ENST00000375217.2_Silent_p.L4800L|UBR4_ENST00000375226.2_Silent_p.L4783L|UBR4_ENST00000543981.1_Silent_p.L471L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4807					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCATGCCCAGGGTGCCCAGG	0.597000													24	36					0	0	0.00127121	0	0
COL4A3	1285	broad.mit.edu	37	2	228137770	228137770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:228137770G>A	ENST00000396578.3	+	26	2026	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACCCCAAGGAGAACCTGG	0.627000													13	38					0	0	0.000422831	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146807	70146807	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:70146807G>A	ENST00000374299.3	-	9	1515	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	SLC7A3_ENST00000298085.4_Silent_p.T457T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	457					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTCCCCATAGGGTCAACTTCT	0.458000													35	20					0	0	0.000814825	0	0
GRM3	2913	broad.mit.edu	37	7	86468900	86468900	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:86468900C>T	ENST00000361669.2	+	4	3169	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.F282F|GRM3_ENST00000536043.1_Silent_p.F562F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	690					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTCAGGTTTTCATCTGCCTGG	0.557000													7	26					0	0	0.000157383	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322292	79322292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:79322292G>A	ENST00000428286.1	-	8	5021	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1633F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1633					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGGAAAAGGAATCACCATC	0.363000													20	26					0	0	0.00121646	0	0
NRXN3	9369	broad.mit.edu	37	14	80328034	80328034	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:80328034G>A	ENST00000281127.7	+	6	1905	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Silent_p.R369R|NRXN3_ENST00000554719.1_Silent_p.R971R|NRXN3_ENST00000335750.5_Silent_p.R971R|NRXN3_ENST00000557594.1_Silent_p.R547R	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	547					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAATCAGACGGGTTCCGGGGG	0.587000													17	27					0	0	0.000566183	0	0
MC3R	4159	broad.mit.edu	37	20	54824080	54824080	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:54824080C>T	ENST00000243911.2	+	1	293	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	98					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGTTATCCTGGCCGTGGT	0.572000													25	51					0	0	0.00047179	0	0
RNF182	221687	broad.mit.edu	37	6	13977773	13977773	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:13977773C>T	ENST00000488300.1	+	3	946	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RNF182_ENST00000537663.1_Silent_p.S141S|RNF182_ENST00000537388.1_Silent_p.S141S|RNF182_ENST00000544682.1_Silent_p.S141S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	141						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GAGAGAGCTCCCCGTCCCTGA	0.557000													5	26					0	0	0.00116845	0	0
REXO1	57455	broad.mit.edu	37	19	1825933	1825933	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1825933C>T	ENST00000170168.4	-	3	2015	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	641						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTCTCTTCCTTGGGGGGC	0.597000													25	38					0	0	0.000586117	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592606	167592606	+	Silent	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577000													4	16					0	0	0.00116845	0	0
HSH2D	84941	broad.mit.edu	37	19	16268126	16268126	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:16268126C>T	ENST00000593154.2	+	8	1112	c.581C>T	c.(580-582)tCc>tTc	p.S194F	HSH2D_ENST00000253680.6_Missense_Mutation_p.S194F|HSH2D_ENST00000588246.1_Missense_Mutation_p.S194F|HSH2D_ENST00000397372.4_Missense_Mutation_p.S105F	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	194						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCCCCAAAATCCCCTCTTGGA	0.562000													22	52					0	0	0.000295444	0	0
MCF2L2	23101	broad.mit.edu	37	3	182947524	182947524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:182947524G>A	ENST00000328913.3	-	17	2272	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P659S|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P659S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	659	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGAACATCTGGAATTAGATGC	0.348000													18	94					0	0	0.00152264	0	0
SMARCA4	6597	broad.mit.edu	37	19	11130342	11130342	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:11130342G>A	ENST00000358026.2	+	18	2865	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E861K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E861K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E861K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E861K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	861	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E861K(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGACGTACGAGTACATCAT	0.597000			"""F, N, Mis"""		NSCLC								9	16					0	0	0.000978159	0	0
NIPBL	25836	broad.mit.edu	37	5	37064648	37064648	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:37064648G>A	ENST00000282516.8	+	47	8568	c.8069G>A	c.(8068-8070)cGa>cAa	p.R2690Q		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2690					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGTCAAAACGAAATTCAGAC	0.373000													17	83					0	0	0.000566183	0	0
WWC3	55841	broad.mit.edu	37	X	10098134	10098134	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:10098134C>T	ENST00000380861.4	+	18	2962	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	WWC3_ENST00000454666.1_Silent_p.P857P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	857										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTTACAGCCCCGAGAAATTTC	0.547000													25	9					0	0	0.00047179	0	0
CASR	846	broad.mit.edu	37	3	122002713	122002713	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:122002713C>T	ENST00000498619.1	+	7	2380	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	CASR_ENST00000490131.1_Missense_Mutation_p.R638C|CASR_ENST00000296154.5_Missense_Mutation_p.R638C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	638					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TATCAAGTTCCGCAACACACC	0.562000													15	21					0	0	0.000219431	0	0
ROBO1	6091	broad.mit.edu	37	3	78656137	78656137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:78656137G>A	ENST00000436010.2	-	27	5370	c.4373C>T	c.(4372-4374)tCc>tTc	p.S1458F	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1397F|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1452F|ROBO1_ENST00000464233.1_Missense_Mutation_p.S1497F|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1497					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGTGTCTTGGATTGGGCAGT	0.438000													9	35					0	0	0.000274275	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069432	6069432	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:6069432G>A	ENST00000381095.3	-	2	703	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L26F|NLGN4X_ENST00000381092.1_Missense_Mutation_p.L26F|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L26F|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L26F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	26					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			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AACCACAGGAGGACATTGGAG	0.498000													23	13					0	0	0.000878237	0	0
HNF4A	3172	broad.mit.edu	37	20	43042392	43042392	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:43042392C>T	ENST00000316099.3	+	4	533	c.444C>T	c.(442-444)agC>agT	p.S148S	HNF4A_ENST00000415691.1_Silent_p.S148S|HNF4A_ENST00000457232.1_Silent_p.S126S|HNF4A_ENST00000443598.2_Silent_p.S148S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	148					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGACAGCAGCCTGCCCTCCA	0.627000													26	140					0	0	0.001512	0	0
NOS1AP	9722	broad.mit.edu	37	1	162335313	162335313	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:162335313C>T	ENST00000493151.1	+	1	2541	c.174C>T	c.(172-174)gtC>gtT	p.V58V	RP11-565P22.6_ENST00000431696.1_Silent_p.V39V|NOS1AP_ENST00000361897.5_Silent_p.V353V|NOS1AP_ENST00000530878.1_Silent_p.V348V	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	353	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCTGCTGGTCAAGCAGGTGC	0.602000													5	47					0	0	8.12818e-05	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434071	5434071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:5434071G>A	ENST00000341928.2	-	7	995	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	EPB41L3_ENST00000544123.1_Missense_Mutation_p.P219S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P219S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P219S|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P219S|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	219	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAGGAGCAGGGCAGCCTTCCG	0.527000													16	40					0	0	0.000566183	0	0
BIRC6	57448	broad.mit.edu	37	2	32824896	32824896	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:32824896C>T	ENST00000421745.2	+	70	14055	c.13921C>T	c.(13921-13923)Cct>Tct	p.P4641S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4641	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGTTCACCCCCTCTTGTGAA	0.393000													28	52					0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179640909	179640909	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179640909G>A	ENST00000589042.1	-	28	5906	c.5682C>T	c.(5680-5682)atC>atT	p.I1894I	TTN_ENST00000342992.6_Silent_p.I1894I|TTN_ENST00000460472.2_Silent_p.I1848I|TTN_ENST00000359218.5_Silent_p.I1848I|TTN_ENST00000591111.1_Silent_p.I1894I|TTN_ENST00000342175.6_Silent_p.I1848I|TTN_ENST00000360870.5_Silent_p.I1894I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1609	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGTAATGGATACCATCAT	0.483000													40	108					0	0	0.000437636	0	0
OR51B5	282763	broad.mit.edu	37	11	5364200	5364200	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5364200G>A	ENST00000300773.2	-	1	609	c.555C>T	c.(553-555)ctC>ctT	p.L185L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAGGCGAGTTTAATGA	0.433000													48	59					0	0	0.000781405	0	0
TNS3	64759	broad.mit.edu	37	7	47409131	47409131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:47409131G>A	ENST00000398879.1	-	17	1478	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	TNS3_ENST00000311160.9_Missense_Mutation_p.P371L|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	371						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GATTGCCTGGGGGCCACCTGG	0.617000													15	38					0	0	0.000566183	0	0
MCOLN1	57192	broad.mit.edu	37	19	7589984	7589984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:7589984C>T	ENST00000264079.6	+	2	294	c.169C>T	c.(169-171)Cga>Tga	p.R57*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	57					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGACAAGTTTCGAGCCAAGGG	0.617000													12	43					0	0	0.00185496	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020746	33020746	+	RNA	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:33020746T>C	ENST00000565407.2	+	0	154				RP11-19N8.2_ENST00000567619.1_RNA																							CAGTAACCACTACATGAGCTG	0.567000													90	203					0	0	0.000781405	0	0
EGR2	1959	broad.mit.edu	37	10	64573920	64573920	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:64573920C>T	ENST00000242480.3	-	2	803	c.478G>A	c.(478-480)Gac>Aac	p.D160N	EGR2_ENST00000439032.1_Missense_Mutation_p.D160N|EGR2_ENST00000411732.1_Missense_Mutation_p.D110N	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	160					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGTCCAGGTCAGGCTGGGTC	0.632000													27	38					0	0	0.000339439	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168918	60168918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:60168918C>T	ENST00000261187.4	+	4	1006	c.842C>T	c.(841-843)tCg>tTg	p.S281L	SLC16A7_ENST00000547379.1_Missense_Mutation_p.S281L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.S281L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S281L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.S182L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	281						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GATGAGTACTCGGCAGCTTTT	0.388000													17	25					0	0	0.00188189	0	0
MYF6	4618	broad.mit.edu	37	12	81102631	81102631	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:81102631T>A	ENST00000228641.3	+	3	843	c.621T>A	c.(619-621)agT>agA	p.S207R		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	207					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAGGAGCAAGTATTGATTCGT	0.562000													54	75					0	0	0.000781405	0	0
MATN1	4146	broad.mit.edu	37	1	31189098	31189098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:31189098C>T	ENST00000373765.4	-	5	900	c.865G>A	c.(865-867)Gag>Aag	p.E289K	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	289	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAAGTTCTCTGGCCTCACA	0.577000													13	40					0	0	0.000219431	0	0
MYH10	4628	broad.mit.edu	37	17	8395693	8395693	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:8395693C>T	ENST00000360416.3	-	34	4731	c.4593G>A	c.(4591-4593)gaG>gaA	p.E1531E	MYH10_ENST00000396239.1_Silent_p.E1521E|MYH10_ENST00000269243.4_Silent_p.E1500E|MYH10_ENST00000379980.4_Silent_p.E1516E	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1500					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTCAAACTCCTCCTTGGCCT	0.592000													32	132					0	0	0.00058488	0	0
MUC16	94025	broad.mit.edu	37	19	9019299	9019299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9019299G>A	ENST00000397910.4	-	23	37791	c.37588C>T	c.(37588-37590)Cca>Tca	p.P12530S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12532					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAGAATGGAGTCCCTGAG	0.473000													8	23					0	0	0.000673444	0	0
SCN1A	6323	broad.mit.edu	37	2	166848506	166848506	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:166848506G>A	ENST00000423058.2	-	26	5296	c.5279C>T	c.(5278-5280)tCt>tTt	p.S1760F	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1749F|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1760F|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1732F|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1760						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTCCAACAGATGGGTTCCC	0.453000													22	49					0	0	0.000295444	0	0
PRSS35	167681	broad.mit.edu	37	6	84234295	84234295	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:84234295C>T	ENST00000536636.1	+	3	1480	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	PRSS35_ENST00000369700.3_Missense_Mutation_p.H379Y	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	379	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTGGATGTCCACGGGGTTCA	0.512000													22	11					0	0	0.000878237	0	0
WDHD1	11169	broad.mit.edu	37	14	55434105	55434105	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:55434105G>C	ENST00000360586.3	-	17	2136	c.2071C>G	c.(2071-2073)Cct>Gct	p.P691A	WDHD1_ENST00000359167.4_Missense_Mutation_p.P209A|WDHD1_ENST00000420358.2_Missense_Mutation_p.P568A|WDHD1_ENST00000421192.1_Missense_Mutation_p.P568A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	691						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCTTTACAAGGAATGCACCTG	0.348000													6	53					0	0	8.12818e-05	0	0
OR51F2	119694	broad.mit.edu	37	11	4843236	4843236	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4843236G>A	ENST00000322110.5	+	1	686	c.621G>A	c.(619-621)agG>agA	p.R207R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R207R(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACAATAGGATCAACAGCA	0.463000													18	54					0	0	0.000958276	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068123	73068123	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:73068123C>T	ENST00000263674.3	+	8	4295	c.3945C>T	c.(3943-3945)atC>atT	p.I1315I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1315					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGACCTCATCGTCTGCACCA	0.617000													9	24					0	0	0.000978159	0	0
TLL1	7092	broad.mit.edu	37	4	166978338	166978338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:166978338G>A	ENST00000061240.2	+	14	2370	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	TLL1_ENST00000507499.1_Missense_Mutation_p.E598K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	575	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTCATAGAGGAAGATGAGTG	0.468000													10	25					0	0	0.00185496	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10391870C>T	ENST00000397077.1	-	15	2770	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R763Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R732Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R777Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R777Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	777					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCAATTCGCTCCTGCTC	0.612000													5	26					0	0	0.000602214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	30					0	0	0.000566183	0	0
C11orf63	79864	broad.mit.edu	37	11	122775005	122775005	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:122775005C>T	ENST00000227349.2	+	3	1014	c.717C>T	c.(715-717)ttC>ttT	p.F239F	C11orf63_ENST00000531316.1_Silent_p.F239F|C11orf63_ENST00000307257.6_Silent_p.F239F	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	239										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACGAGGTTTTCCTGCCGGGAT	0.512000													38	121					0	0	0.000814825	0	0
OR10J5	127385	broad.mit.edu	37	1	159505536	159505536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:159505536G>A	ENST00000334857.2	-	1	306	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GGTTGGTTATGAAAAATGAGG	0.438000													19	21					0	0	0.000958276	0	0
ABCC9	10060	broad.mit.edu	37	12	22001161	22001161	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:22001161G>C	ENST00000261200.4	-	23	2788	c.2789C>G	c.(2788-2790)aCt>aGt	p.T930S	ABCC9_ENST00000345162.2_Missense_Mutation_p.T894S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.T930S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	930					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCTAAAGTAGTTTGGTCAGC	0.418000													9	15					0	0	0.00136819	0	0
JPH1	56704	broad.mit.edu	37	8	75227604	75227604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:75227604G>A	ENST00000342232.4	-	2	671	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	211					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTCCGGAAGAGGCCGCCCTTC	0.662000													36	74					0	0	0.000953801	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147817	27147817	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:27147817C>T	ENST00000288699.6	+	3	482	c.324C>T	c.(322-324)tcC>tcT	p.S108S	DPYSL5_ENST00000401478.1_Silent_p.S108S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	108					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGACCTCCCTTGTGGACG	0.617000													9	34					0	0	0.000442599	0	0
GSDMC	56169	broad.mit.edu	37	8	130765052	130765052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:130765052C>T	ENST00000276708.4	-	7	1617	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	246						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						cctaccatttcggaaatttcg	0.473000													26	66					0	0	0.000586117	0	0
ADAM28	10863	broad.mit.edu	37	8	24181473	24181473	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:24181473G>T	ENST00000265769.4	+	9	957	c.847G>T	c.(847-849)Gtt>Ttt	p.V283F	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V30F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V283F|ADAM28_ENST00000540823.1_Missense_Mutation_p.V50F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	283	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAGGGGGAGTGTTCTCTCAAG	0.403000													3	7					2.56e-06	1.62655e-05	0.00024832	1	0
RHEB	6009	broad.mit.edu	37	7	151168657	151168657	+	Silent	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:151168657A>G	ENST00000262187.5	-	5	722	c.310T>C	c.(310-312)Ttg>Ctg	p.L104L	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	104					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		ACCATATCCAACAATTTGCCA	0.289000													40	93					0	0	0.00195071	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976449	43976449	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:43976449C>T	ENST00000262726.7	-	25	3376	c.3123G>A	c.(3121-3123)aaG>aaA	p.K1041K	EFCAB6_ENST00000396231.2_Silent_p.K889K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCTTTTTCCTTGGGCTGAG	0.498000													54	268					0	0	0.000781405	0	0
PTPRN	5798	broad.mit.edu	37	2	220167205	220167205	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:220167205G>A	ENST00000295718.2	-	6	888	c.648C>T	c.(646-648)tcC>tcT	p.S216S	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.S216S|PTPRN_ENST00000423636.2_Silent_p.S126S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	216					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCCATCACGGGAGCCAAACT	0.617000													29	54					0	0	0.001512	0	0
TBRG4	9238	broad.mit.edu	37	7	45145054	45145054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:45145054G>A	ENST00000258770.3	-	3	842	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	TBRG4_ENST00000361278.3_Missense_Mutation_p.R241C|TBRG4_ENST00000494076.1_Missense_Mutation_p.R241C|TBRG4_ENST00000395655.4_Missense_Mutation_p.R241C	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	241					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TCTTCCAGGCGGTTCATTAGT	0.557000													31	84					0	0	0.00178596	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003344	75003344	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:75003344T>C	ENST00000373359.2	-	1	1735	c.1543A>G	c.(1543-1545)Act>Gct	p.T515A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	515										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACATGATAGTTGCCTCAGAT	0.478000													27	8					0	0	0.001512	0	0
TENM4	26011	broad.mit.edu	37	11	78380301	78380301	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:78380301G>A	ENST00000278550.7	-	32	7551	c.7089C>T	c.(7087-7089)atC>atT	p.I2363I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GAGGGGTCCCGATGTTGTCAC	0.488000													27	50					0	0	0.000720815	0	0
SAMM50	25813	broad.mit.edu	37	22	44386179	44386179	+	Silent	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:44386179T>G	ENST00000350028.4	+	14	1414	c.1257T>G	c.(1255-1257)gcT>gcG	p.A419A	SAMM50_ENST00000396202.3_Silent_p.A209A	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	419					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTAAGCTGGCTGAGTGCATCC	0.572000													12	49					0	0	0.00136819	0	0
ZNF532	55205	broad.mit.edu	37	18	56586400	56586400	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:56586400C>T	ENST00000336078.4	+	4	1657	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ZNF532_ENST00000591808.1_Missense_Mutation_p.S294L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S294L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S294L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S294L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTGGCCAATTCGAGGGAATCC	0.532000													19	60					0	0	0.000958276	0	0
KIF26B	55083	broad.mit.edu	37	1	245865806	245865806	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:245865806G>A	ENST00000366518.4	+	12	5186	c.5082G>A	c.(5080-5082)gaG>gaA	p.E1694E	KIF26B_ENST00000407071.2_Silent_p.E2075E			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2075	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTACCTGGAGGCACTGGAGT	0.572000													28	42					0	0	0.00127121	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633434	70633434	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70633434A>G	ENST00000381269.2	-	2	2459	c.1706T>C	c.(1705-1707)gTa>gCa	p.V569A	SLC8A3_ENST00000534137.1_Missense_Mutation_p.V569A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V569A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V569A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V569A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	569	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGTCCCTTCTACTGTCCTAAA	0.473000													19	22					0	0	0.00152264	0	0
FBXL19	54620	broad.mit.edu	37	16	30958426	30958426	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:30958426C>T	ENST00000338343.4	+	11	2287	c.1900C>T	c.(1900-1902)Cta>Tta	p.L634L	FBXL19_ENST00000471231.2_Silent_p.L342L|FBXL19_ENST00000565690.1_Silent_p.L518L|FBXL19_ENST00000562319.1_Silent_p.L634L|FBXL19_ENST00000380310.2_Silent_p.L654L			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	654							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTGCCCTCGTCTACGCCGCCT	0.706000													6	5					0	0	8.12818e-05	0	0
IPP	3652	broad.mit.edu	37	1	46180070	46180070	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:46180070G>A	ENST00000396478.3	-	8	1480	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	460						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTAGAAAGTGGATCATAGACT	0.428000													19	33					0	0	0.00152264	0	0
ANO3	63982	broad.mit.edu	37	11	26664814	26664814	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:26664814C>T	ENST00000256737.3	+	23	3213	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	ANO3_ENST00000531568.1_Silent_p.I641I|ANO3_ENST00000537978.1_Silent_p.I771I|ANO3_ENST00000525139.1_Silent_p.I771I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	787						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCATTGAAATCAGGCTGGATG	0.418000													10	64					0	0	0.000673444	0	0
RELB	5971	broad.mit.edu	37	19	45528871	45528871	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:45528871C>T	ENST00000221452.8	+	7	912	c.762C>T	c.(760-762)tcC>tcT	p.S254S	RELB_ENST00000540120.1_Silent_p.S254S|RELB_ENST00000505236.1_Silent_p.S251S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	254	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGCTGGGTCCCTGAAGAACC	0.607000													80	169					0	0	0.000781405	0	0
ZBTB16	7704	broad.mit.edu	37	11	114118013	114118013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:114118013C>T	ENST00000335953.4	+	6	2098	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.P573L|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	573					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGTGAGAAACCCTACGAGTGC	0.582000													6	31					0	0	0.00116845	0	0
RAD54B	25788	broad.mit.edu	37	8	95384577	95384577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:95384577G>A	ENST00000336148.5	-	15	2678	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGACCAAGCTGACAATCTCTA	0.368000								Direct reversal of damage;Homologous recombination					10	56					0	0	0.000978159	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459714	107459714	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:107459714C>T	ENST00000409382.3	-	2	1330	c.720G>A	c.(718-720)ggG>ggA	p.G240G	ST6GAL2_ENST00000361686.4_Silent_p.G240G|ST6GAL2_ENST00000409087.3_Silent_p.G240G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTCCCGCTTCCCGCGGAAGC	0.677000													4	5					0	0	0.00024832	0	0
ASAP3	55616	broad.mit.edu	37	1	23758187	23758187	+	Splice_Site	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23758187A>G	ENST00000336689.3	-	23	2591		c.e23+1		ASAP3_ENST00000495646.1_Splice_Site|ASAP3_ENST00000437606.2_Splice_Site|ASAP3_ENST00000484906.1_Intron	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCCCTCACCAACCTGAATCTG	0.577000													9	48					0	0	0.000442599	0	0
NEBL	10529	broad.mit.edu	37	10	21074722	21074722	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:21074722C>T	ENST00000377122.4	-	28	3395	c.2999G>A	c.(2998-3000)gGg>gAg	p.G1000E	NEBL_ENST00000417816.2_Missense_Mutation_p.G256E|NEBL_ENST00000377159.4_Missense_Mutation_p.G222E	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1000	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGTTCTCCCTGTTCTCTG	0.458000													12	19					0	0	0.00136819	0	0
TLX3	30012	broad.mit.edu	37	5	170737323	170737323	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:170737323G>A	ENST00000296921.5	+	2	673	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGAGGGCGGCGCTCGCCA	0.632000			T	BCL11B	T-ALL								4	12					0	0	0.000602214	0	0
C11orf84	144097	broad.mit.edu	37	11	63586056	63586056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:63586056C>T	ENST00000294244.4	+	4	964	c.665C>T	c.(664-666)cCc>cTc	p.P222L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	222	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGGAAGGAACCCCCAGGGGAA	0.562000													30	46					0	0	0.000339439	0	0
ZNF333	84449	broad.mit.edu	37	19	14805826	14805826	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:14805826C>T	ENST00000292530.6	+	3	99	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601134.1_Missense_Mutation_p.S3F|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Missense_Mutation_p.S3F	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TTTTAGGAATCCGTCACCTTT	0.527000													50	103					0	0	0.000781405	0	0
C1orf106	55765	broad.mit.edu	37	1	200880799	200880799	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:200880799C>T	ENST00000367342.4	+	9	1633	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	C1orf106_ENST00000413687.2_Missense_Mutation_p.S393F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	478										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCGACATCTCCTTTCTGCAG	0.677000													23	68					0	0	0.000295444	0	0
CABIN1	23523	broad.mit.edu	37	22	24494078	24494078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:24494078C>T	ENST00000398319.2	+	26	4425	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Missense_Mutation_p.S1347F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1347					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGTCTGACATCCCCACCTTAC	0.612000													20	93					0	0	0.00047179	0	0
MYOM3	127294	broad.mit.edu	37	1	24411063	24411063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:24411063C>T	ENST00000330966.7	-	16	2030	c.1868G>A	c.(1867-1869)tGg>tAg	p.W623*	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.W622*|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.W622*			Q5VTT5	MYOM3_HUMAN	myomesin 3	622	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACAGGATCCCATGTCAGGGA	0.498000													74	133					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54805266	54805266	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54805266C>T	ENST00000306858.7	+	5	1613	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	499										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAATTGAATCCTACTTAAATG	0.408000													8	14					0	0	0.000157383	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714032	70714032	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70714032C>T	ENST00000530196.1	-	0	486					NR_003951.1																						GGGGCACCCTCCACGTAACCA	0.488000													8	41					0	0	0.000978159	0	0
OR56B4	196335	broad.mit.edu	37	11	6129417	6129417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6129417C>T	ENST00000316529.3	+	1	504	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCCCTCTTCAGTACCCCTC	0.488000													14	62					0	0	0.00185496	0	0
C9orf117	286207	broad.mit.edu	37	9	130475122	130475122	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:130475122G>A	ENST00000373295.2	+	7	1312	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Silent_p.Q73Q	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	424										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTCCCCACCAGGAGTCACAGT	0.607000													6	14					0	0	0.00116845	0	0
ABTB2	25841	broad.mit.edu	37	11	34181501	34181501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:34181501C>T	ENST00000435224.2	-	13	2982	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	ABTB2_ENST00000298992.2_Missense_Mutation_p.G667E	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	667							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AAACAGCTTTCCTTCCACCAG	0.502000													24	42					0	0	0.00106085	0	0
SPTB	6710	broad.mit.edu	37	14	65253286	65253286	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:65253286C>T	ENST00000389722.3	-	15	3450	c.3397G>A	c.(3397-3399)Gac>Aac	p.D1133N	SPTB_ENST00000542895.1_Missense_Mutation_p.D1133N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1133N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1133N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1133N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1133					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TACTCTGGGTCCGTCTGGCCT	0.602000													4	30					0	0	0.00024832	0	0
NOVA1	4857	broad.mit.edu	37	14	26949327	26949327	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:26949327C>T	ENST00000539517.2	-	3	620	c.303G>A	c.(301-303)ttG>ttA	p.L101L	NOVA1_ENST00000344429.5_Silent_p.L101L|NOVA1_ENST00000465357.2_Silent_p.L101L|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Silent_p.L101L|NOVA1_ENST00000574031.1_Silent_p.L101L	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	104	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTCCCTGGATCAAGCACACTC	0.378000													10	26					0	0	0.000978159	0	0
BAGE2	85319	broad.mit.edu	37	21	11097537	11097537	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:11097537G>A	ENST00000470054.1	-	0	324									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)		caacaagaacgaaactcACAG	0.557000													5	30					0	0	0.000602214	0	0
CCL23	6368	broad.mit.edu	37	17	34340243	34340243	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:34340243C>T	ENST00000293280.2	-	4	478	c.408G>A	c.(406-408)aaG>aaA	p.K136K	CCL23_ENST00000591423.1_Silent_p.K119K	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	119					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	AAGTTCAATTCTTCCTGGTCT	0.453000													5	36					0	0	0.00116845	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355084	77355084	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:77355084G>A	ENST00000282849.5	-	15	2597	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	727	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCTAGTTCATGATCACATCCC	0.393000													31	64					0	0	0.000339439	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629945	8629945	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:8629945C>T	ENST00000382073.3	+	6	701	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	172	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CCCAATCATTCTGCAGAGCAA	0.378000													5	47					0	0	0.000157383	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389532	150389532	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150389532G>A	ENST00000223293.5	+	3	252	c.158G>A	c.(157-159)gGt>gAt	p.G53D		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	53						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGAAGCTGGGTTCCCAGACC	0.468000													19	36					0	0	0.00121646	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635553	122635553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:122635553C>T	ENST00000249284.2	-	1	201	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	46					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAATCATGTCCACAGGCATC	0.443000													8	13					0	0	0.000442599	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936736	209936736	+	Splice_Site	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:209936736A>T	ENST00000367024.1	+	7	1121	c.606_splice	c.e7+1	p.K202_splice	TRAF3IP3_ENST00000367026.3_Splice_Site_p.K182_splice|TRAF3IP3_ENST00000400959.3_Splice_Site_p.K182_splice|TRAF3IP3_ENST00000367025.3_Splice_Site_p.K202_splice|TRAF3IP3_ENST00000010338.4_Splice_Site_p.K182_splice			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	202						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GATTACCTCAAAGTAAGTGGC	0.502000													48	77					0	0	0.000781405	0	0
FAM177B	400823	broad.mit.edu	37	1	222922892	222922892	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:222922892G>A	ENST00000445590.2	+	5	593	c.327G>A	c.(325-327)agG>agA	p.R109R	FAM177B_ENST00000360827.2_Silent_p.R109R	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	109										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AGTTCTATAGGATACAAAACA	0.393000													9	35					0	0	0.000442599	0	0
PPM1H	57460	broad.mit.edu	37	12	63195741	63195741	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:63195741C>T	ENST00000228705.6	-	3	911	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	204	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTCAGAGTCCGGCTGTTGGC	0.682000													18	76					0	0	0.00188189	0	0
WNK2	65268	broad.mit.edu	37	9	96054861	96054861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:96054861C>T	ENST00000297954.4	+	23	5225	c.5225C>T	c.(5224-5226)cCg>cTg	p.P1742L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1705L|WNK2_ENST00000427277.2_Missense_Mutation_p.P1317L|WNK2_ENST00000356055.3_Missense_Mutation_p.P69L|WNK2_ENST00000349097.3_Missense_Mutation_p.P1354L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1742					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAGCCCCCGCCGAGTGACATG	0.622000													7	7					0	0	0.000157383	0	0
CSHL1	1444	broad.mit.edu	37	17	61987127	61987127	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:61987127C>T	ENST00000259003.10	-	5	571	c.427G>A	c.(427-429)Gag>Aag	p.E143K	CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000438387.2_Missense_Mutation_p.E122K|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E111K|CSHL1_ENST00000309894.5_Missense_Mutation_p.E205K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	205						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGGAATGTCTCGACCTTGTCC	0.597000													23	83					0	0	0.000375601	0	0
NEGR1	257194	broad.mit.edu	37	1	72241922	72241922	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:72241922G>A	ENST00000357731.4	-	3	707	c.468C>T	c.(466-468)gtC>gtT	p.V156V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Silent_p.V28V|NEGR1_ENST00000434200.1_Silent_p.V154V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	156	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGTAAGAGTGACGTTGGTTC	0.393000													13	13					0	0	0.00136819	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449869	105449869	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:105449869G>A	ENST00000337685.2	+	5	1229	c.444G>A	c.(442-444)agG>agA	p.R148R	MUM1L1_ENST00000372552.1_Silent_p.R148R|MUM1L1_ENST00000357175.2_Silent_p.R148R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	148										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGAGGAAAGGGAAAACTCAG	0.428000													7	7					0	0	8.12818e-05	0	0
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1460850C>T	ENST00000535453.1	+	11	3228	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.L231L|APC2_ENST00000233607.2_Silent_p.L505L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	505					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGGAGCTCCACCAGGTAC	0.697000													10	19					0	0	0.000442599	0	0
PRKACG	5568	broad.mit.edu	37	9	71628484	71628484	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:71628484G>A	ENST00000377276.2	-	1	555	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	175	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTGCTGGTCGATGAGGAGAT	0.642000													7	15					0	0	8.12818e-05	0	0
EVA1A	84141	broad.mit.edu	37	2	75745192	75745192	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:75745192G>A	ENST00000233712.1	-	3	512	c.75C>T	c.(73-75)tcC>tcT	p.S25S	EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000410113.1_Silent_p.S25S|EVA1A_ENST00000410071.1_Silent_p.S25S|EVA1A_ENST00000393913.3_Silent_p.S25S	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		CTGAGACAAAGGAATAGGCCG	0.597000													11	21					0	0	0.000673444	0	0
MYOC	4653	broad.mit.edu	37	1	171605701	171605701	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171605701C>T	ENST00000037502.5	-	3	938	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	293	Olfactomedin-like.		T -> K (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCGGACATCCGTGCCAACTG	0.537000													9	45					0	0	0.000442599	0	0
GAST	2520	broad.mit.edu	37	17	39872037	39872037	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:39872037C>T	ENST00000329402.3	+	3	286	c.219C>T	c.(217-219)tcC>tcT	p.S73S	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	73						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CAGACCCGTCCAAGAAGCAGG	0.562000													14	98					0	0	0.000422831	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370510	130370510	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:130370510C>T	ENST00000529410.1	+	6	665	c.186C>T	c.(184-186)acC>acT	p.T62T	L3MBTL3_ENST00000533560.1_Silent_p.T62T|L3MBTL3_ENST00000368139.2_Silent_p.T62T|L3MBTL3_ENST00000526019.1_Silent_p.T62T|L3MBTL3_ENST00000361794.2_Silent_p.T62T|L3MBTL3_ENST00000368136.2_Silent_p.T62T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	62					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGCTACCACCACTTGGATGG	0.363000													5	14					0	0	0.000602214	0	0
SPTBN1	6711	broad.mit.edu	37	2	54886356	54886356	+	Silent	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:54886356C>A	ENST00000333896.5	+	30	6655	c.6270C>A	c.(6268-6270)ccC>ccA	p.P2090P	SPTBN1_ENST00000356805.4_Silent_p.P2103P	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2103	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.P2103P(1)|p.P2090P(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGCCTTCTCCCGAGCCGAGCA	0.577000													10	269					0.00136819	0.00860657	0.00136819	1	0
PCDHA11	56138	broad.mit.edu	37	5	140249340	140249340	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140249340G>A	ENST00000398640.2	+	1	652	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGACGGGGGAAAACCAGA	0.413000													6	20					0	0	0.00116845	0	0
NELL2	4753	broad.mit.edu	37	12	45169851	45169851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:45169851C>T	ENST00000429094.2	-	8	1349	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	NELL2_ENST00000452445.2_Missense_Mutation_p.R282Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R281Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R281Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R281Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R332Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R305Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	282	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTCAAATTCTCGGTAGGTGGT	0.468000													7	41					0	0	0.000157383	0	0
SGK1	6446	broad.mit.edu	37	6	134494411	134494411	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:134494411C>T	ENST00000367858.5	-	7	1300		c.e7+1		SGK1_ENST00000367857.5_Splice_Site|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000237305.7_Splice_Site|SGK1_ENST00000489458.2_Splice_Site	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACATCTCATACCTCTTTCTTT	0.398000													11	50					0	0	0.000978159	0	0
AAAS	8086	broad.mit.edu	37	12	53715282	53715282	+	Translation_Start_Site	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:53715282A>T	ENST00000209873.4	-	0	133				AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_De_novo_Start_InFrame	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCAGTCGGCAAACTCCTGGCC	0.612000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	66					0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228432088	228432088	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:228432088C>T	ENST00000570156.2	+	12	3647	c.3573C>T	c.(3571-3573)gcC>gcT	p.A1191A	OBSCN_ENST00000422127.1_Silent_p.A1099A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A1099A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	134	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGGTGGCCCAGGCCCAGA	0.597000													17	51					0	0	0.00074312	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:104961395G>A	ENST00000372582.1	+	7	1564	c.808G>A	c.(808-810)Gga>Aga	p.G270R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCATTCTTCGGATTCAGTGG	0.438000													27	8					0	0	0.00127121	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836052	14836052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:14836052C>T	ENST00000261170.3	-	4	671	c.535G>A	c.(535-537)Gat>Aat	p.D179N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	179					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.D179N(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGGGCAGATCGTTGGTTTTC	0.378000													10	16					0	0	0.000442599	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183149	140183149	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140183149G>A	ENST00000522353.2	+	1	2367	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q	PCDHA3_ENST00000532566.2_Silent_p.Q789Q|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAAACAGGATGTGGACG	0.453000													48	52					0	0	0.000781405	0	0
ZNF713	349075	broad.mit.edu	37	7	56007333	56007333	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:56007333C>T	ENST00000429591.2	+	4	965	c.927C>T	c.(925-927)gcC>gcT	p.A309A	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGGAAAGCCTTCCGTCAGC	0.393000													42	87					0	0	0.00195071	0	0
OR6V1	346517	broad.mit.edu	37	7	142750017	142750017	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142750017G>A	ENST00000418316.1	+	1	601	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCGCCTGTTGGAATTCTGGGA	0.522000													80	146					0	0	0.000781405	0	0
FST	10468	broad.mit.edu	37	5	52781804	52781804	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:52781804G>A	ENST00000256759.3	+	6	1359	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	326	Asp/Glu-rich (highly acidic).				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CACCGAGGAAGAGGAGGAAGA	0.443000													49	80					0	0	0.000781405	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175729	140175729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140175729C>T	ENST00000526136.1	+	1	1180	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	PCDHA2_ENST00000520672.2_Missense_Mutation_p.P394S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P394S|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCACGTCCCTTTCAAGCT	0.587000													34	112					0	0	0.000814825	0	0
PCDH15	65217	broad.mit.edu	37	10	55581882	55581882	+	Silent	SNP	C	C	T	rs113363047	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:55581882C>T	ENST00000361849.3	-	34	6004	c.5610G>A	c.(5608-5610)acG>acA	p.T1870T	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.T1868T|PCDH15_ENST00000373957.3_Silent_p.T722T|PCDH15_ENST00000395430.1_Silent_p.T1865T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.T1799T|PCDH15_ENST00000395432.2_Silent_p.T1828T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.T1845T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1868					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACACACTGTCGTTGTTGATA	0.418000										HNSCC(58;0.16)			67	56					0	0	0.000781405	0	0
RABGAP1	23637	broad.mit.edu	37	9	125746845	125746845	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:125746845G>A	ENST00000373647.4	+	3	366	c.232G>A	c.(232-234)Ggg>Agg	p.G78R		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	78					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CGACCAGCCAGGGGAAAAGGA	0.478000													16	53					0	0	0.000566183	0	0
YLPM1	56252	broad.mit.edu	37	14	75276309	75276309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:75276309G>A	ENST00000325680.7	+	7	4872	c.4748G>A	c.(4747-4749)tGg>tAg	p.W1583*	YLPM1_ENST00000552421.1_Nonsense_Mutation_p.W877*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.W1388*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGGGCTCTGGGATACAAAT	0.468000													7	16					0	0	0.000157383	0	0
EXD1	161829	broad.mit.edu	37	15	41476729	41476729	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41476729C>T	ENST00000314992.5	-	10	1135	c.945G>A	c.(943-945)agG>agA	p.R315R	EXD1_ENST00000458580.2_Silent_p.R373R	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	315					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CAGCTTTCTCCCTGCGCTGCT	0.458000													31	61					0	0	0.001512	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411081	32411081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32411081G>A	ENST00000395388.2	+	3	557	c.448G>A	c.(448-450)Gga>Aga	p.G150R	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.G125R	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	150	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.G150R(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GCTTCGAAATGGAAAACCTGT	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				29	60					0	0	0.00106085	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237554	23237554	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:23237554G>A	ENST00000532223.1	+	3	602		c.e3-1		IGLL5_ENST00000531372.1_Splice_Site|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Splice_Site			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5							extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGTCCACACAGGTCAGCCCAA	0.577000													14	15					0	0	0.00185496	0	0
CR1	1378	broad.mit.edu	37	1	207793378	207793378	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:207793378G>A	ENST00000367049.4	+	43	7220	c.7220G>A	c.(7219-7221)aGa>aAa	p.R2407K	CR1_ENST00000367053.1_Missense_Mutation_p.R1957K|CR1_ENST00000400960.2_Missense_Mutation_p.R1957K|CR1_ENST00000367051.1_Missense_Mutation_p.R1957K|CR1_ENST00000367052.1_Missense_Mutation_p.R1957K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1957					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						GCGGATGACAGATGGGACCCT	0.463000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	0.000157383	0	0
TTLL11	158135	broad.mit.edu	37	9	124801574	124801574	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:124801574G>A	ENST00000321582.5	-	2	993	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.S269F	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	269	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CACTTGACCGGAGAATATGTC	0.418000													28	60					0	0	0.000409698	0	0
EIF2B3	8891	broad.mit.edu	37	1	45363041	45363041	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:45363041G>A	ENST00000360403.2	-	6	768	c.642C>T	c.(640-642)ttC>ttT	p.F214F	EIF2B3_ENST00000372183.3_Silent_p.F214F	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	214					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTTCCATTAGGAAATCCACGA	0.348000													4	19					0	0	0.00116845	0	0
EPHA6	285220	broad.mit.edu	37	3	97311469	97311469	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:97311469C>T	ENST00000389672.5	+	12	2438	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	EPHA6_ENST00000442602.2_Silent_p.A166A|EPHA6_ENST00000514100.1_Silent_p.A192A|EPHA6_ENST00000502694.1_Silent_p.A192A	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	705	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCTTCCCGGCCATTGGGGTGG	0.458000													25	36					0	0	0.000878237	0	0
DNAH5	1767	broad.mit.edu	37	5	13829667	13829667	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:13829667C>T	ENST00000265104.4	-	38	6500	c.6396G>A	c.(6394-6396)agG>agA	p.R2132R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2132	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAAAACTTCCTGGCCAAAA	0.448000									Kartagener syndrome				9	62					0	0	0.000274275	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411544	105411544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:105411544C>T	ENST00000333244.5	-	7	10363	c.10244G>A	c.(10243-10245)gGc>gAc	p.G3415D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3415						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGATGTC	0.627000													47	223					0	0	0.000781405	0	0
CTBP2	1488	broad.mit.edu	37	10	126681771	126681771	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:126681771C>T	ENST00000309035.6	-	7	2789	c.2659_splice	c.e7+1	p.G887_splice	CTBP2_ENST00000494626.2_Splice_Site_p.G347_splice|CTBP2_ENST00000334808.6_Splice_Site_p.G415_splice|CTBP2_ENST00000337195.5_Splice_Site_p.G347_splice|CTBP2_ENST00000411419.2_Splice_Site_p.G347_splice|CTBP2_ENST00000531469.1_Splice_Site_p.G347_splice	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	347					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGGGCTCACCTGTGATGGCT	0.637000													9	7					0	0	0.000274275	0	0
SGK1	6446	broad.mit.edu	37	6	134494412	134494412	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:134494412C>T	ENST00000367858.5	-	7	1299	c.702_splice	c.e7+1	p.E234_splice	SGK1_ENST00000367857.5_Splice_Site_p.E129_splice|SGK1_ENST00000528577.1_Splice_Site_p.E167_splice|SGK1_ENST00000413996.3_Splice_Site_p.E153_splice|SGK1_ENST00000475719.2_Splice_Site_p.E139_splice|SGK1_ENST00000237305.7_Splice_Site_p.E139_splice|SGK1_ENST00000489458.2_5'UTR	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	139	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCTCATACCTCTTTCTTTT	0.398000													12	51					0	0	0.00136819	0	0
RGS22	26166	broad.mit.edu	37	8	101084449	101084449	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:101084449G>A	ENST00000360863.6	-	5	543	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	RGS22_ENST00000523437.1_Missense_Mutation_p.R117C|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	117					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTCTTCACGACTGAGACAC	0.348000													25	50					0	0	0.000878237	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040863	5040863	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:5040863C>T	ENST00000251170.7	+	5	621	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	147	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGAGAAGATCGCCATGAAGC	0.522000													8	14					0	0	0.000274275	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668481	176668481	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:176668481C>T	ENST00000367662.3	+	8	4156	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	998					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCTGGGCCCCTTAGACAC	0.522000													47	84					0	0	0.000781405	0	0
CELSR1	9620	broad.mit.edu	37	22	46776824	46776824	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:46776824G>A	ENST00000262738.3	-	22	7116	c.7117C>T	c.(7117-7119)Ccg>Tcg	p.P2373S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2373					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCACCATCGGGGTATTAATG	0.612000													4	20					0	0	0.00024832	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:22202112G>A	ENST00000344041.6	-	13	1184	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.P141L	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	141					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343000													24	52					0	0	0.00047179	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032761	46032761	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:46032761C>T	ENST00000334662.2	+	1	766	c.744C>T	c.(742-744)ttC>ttT	p.F248F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	248						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						gcctgtccttcctctgccgcc	0.721000													9	28					0	0	0.000442599	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101815889	101815889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:101815889C>T	ENST00000506729.1	-	2	779	c.608G>A	c.(607-609)gGa>gAa	p.G203E	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G203E|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G203E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G203E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G203E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	203						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCTTCAATTCCTACCTTACT	0.294000													5	11					0	0	0.000602214	0	0
PKP1	5317	broad.mit.edu	37	1	201282611	201282611	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:201282611C>T	ENST00000263946.3	+	3	875	c.624C>T	c.(622-624)tcC>tcT	p.S208S	PKP1_ENST00000352845.3_Silent_p.S208S|PKP1_ENST00000367324.3_Silent_p.S208S	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	208					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGTGCCTCCAAGCAGGACC	0.592000													8	29					0	0	0.000673444	0	0
IGHG1	3500	broad.mit.edu	37	14	106208508	106208508	+	RNA	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:106208508T>C	ENST00000390548.2	-	0	391																											GAGGGTGTCCTTGGGTTTTGG	0.617000													25	84					0	0	0.000878237	0	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10401606G>A	ENST00000397077.1	-	12	2301	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R607C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R576C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R621C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R621C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000													30	48					0	0	0.001512	0	0
DNAH3	55567	broad.mit.edu	37	16	20976239	20976239	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:20976239C>T	ENST00000261383.3	-	53	8966	c.8967G>A	c.(8965-8967)ggG>ggA	p.G2989G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2989					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATAGCGGATCCCCAGCTGTC	0.527000													35	53					0	0	0.000814825	0	0
TEX2	55852	broad.mit.edu	37	17	62290114	62290114	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62290114G>A	ENST00000258991.3	-	2	1548	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	TEX2_ENST00000583097.1_Silent_p.I488I|TEX2_ENST00000584379.1_Silent_p.I488I			Q8IWB9	TEX2_HUMAN	testis expressed 2	488					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGAGGGGGAGGATGAGGTACA	0.512000													24	41					0	0	0.000586117	0	0
FBN2	2201	broad.mit.edu	37	5	127730894	127730894	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:127730894C>T	ENST00000508053.1	-	15	2126	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	FBN2_ENST00000508989.1_Silent_p.T351T|FBN2_ENST00000262464.4_Silent_p.T384T			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGCATTTTCGTCATTCTCC	0.547000													6	22					0	0	8.12818e-05	0	0
TMEM202	338949	broad.mit.edu	37	15	72690727	72690727	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:72690727G>A	ENST00000341689.3	+	1	114	c.60G>A	c.(58-60)aaG>aaA	p.K20K	TMEM202_ENST00000567679.1_Silent_p.K20K	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	20						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAATAAAGGGGAACCGGA	0.448000													11	10					0	0	0.000673444	0	0
POU4F1	5457	broad.mit.edu	37	13	79176586	79176586	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:79176586G>A	ENST00000377208.5	-	2	435	c.224C>T	c.(223-225)cCt>cTt	p.P75L	RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	75					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGCTTGAAAGGATGGCTCTT	0.677000													3	10					0	0	0.00024832	0	0
PRDM2	7799	broad.mit.edu	37	1	14106634	14106634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:14106634C>T	ENST00000235372.7	+	8	3200	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	PRDM2_ENST00000413440.1_Missense_Mutation_p.P581S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P581S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P782S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	782						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCGACTCACCAGCATGGAG	0.463000													8	36					0	0	0.000442599	0	0
MAB21L3	126868	broad.mit.edu	37	1	116663652	116663652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:116663652C>T	ENST00000369500.3	+	3	413	c.148C>T	c.(148-150)Caa>Taa	p.Q50*		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	50										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CATTAGATTTCAAGCTGTGCC	0.483000													82	118					0	0	0.000781405	0	0
ROBO2	6092	broad.mit.edu	37	3	77599977	77599977	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:77599977T>C	ENST00000461745.1	+	8	1968	c.1068T>C	c.(1066-1068)ctT>ctC	p.L356L	ROBO2_ENST00000487694.3_Silent_p.L372L|ROBO2_ENST00000332191.8_Silent_p.L356L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	356	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAACCTACTTTTCCCAAACC	0.418000													3	7					0	0	6.4e-05	0	0
PRDM2	7799	broad.mit.edu	37	1	14107999	14107999	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:14107999C>T	ENST00000235372.7	+	8	4565	c.3709C>T	c.(3709-3711)Ccc>Tcc	p.P1237S	PRDM2_ENST00000413440.1_Missense_Mutation_p.P1036S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P1036S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1237S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1237						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTTACAGATCCCAGCAAGGC	0.473000													51	88					0	0	0.000781405	0	0
ZIM2	23619	broad.mit.edu	37	19	57286462	57286462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57286462G>A	ENST00000391708.3	-	12	1720	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	ZIM2_ENST00000593711.1_Missense_Mutation_p.S393F|ZIM2_ENST00000601070.1_Missense_Mutation_p.S393F|ZIM2_ENST00000599935.1_Missense_Mutation_p.S393F|ZIM2_ENST00000221722.5_Missense_Mutation_p.S393F|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACACTGGACGGAAGGCTTTCT	0.468000													18	34					0	0	0.00074312	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490560	20490560	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:20490560G>A	ENST00000555186.1	+	0	540					NR_038836.1																						TTTTACAACAGAAGAAGCCTT	0.458000													15	451					0	0	0.00074312	0	0
SDK1	221935	broad.mit.edu	37	7	4056981	4056981	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:4056981G>A	ENST00000404826.2	+	17	2738	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SDK1_ENST00000389531.3_Missense_Mutation_p.G867R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	867					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACCTTGCAGGGAGGTAAGCT	0.537000													14	20					0	0	0.000219431	0	0
PNLIP	5406	broad.mit.edu	37	10	118327281	118327281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:118327281G>A	ENST00000369221.2	+	13	1397	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	457	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGTCAGGGAGGAAGTTCTGCT	0.438000													23	33					0	0	0.000586117	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803733	185803733	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:185803733C>T	ENST00000302277.6	+	4	4204	c.3610C>T	c.(3610-3612)Cct>Tct	p.P1204S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1204						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACTGTCATCCCTTTGCAACC	0.433000													60	120					0	0	0.000781405	0	0
C11orf30	56946	broad.mit.edu	37	11	76234235	76234235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:76234235C>T	ENST00000529032.1	+	11	1721	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	C11orf30_ENST00000334736.3_Missense_Mutation_p.S574F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S589F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S589F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S588F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S490F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S574F|C11orf30_ENST00000525919.1_Missense_Mutation_p.S575F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	574	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAATGACTTCCAAGCCCAAC	0.428000													12	45					0	0	0.00185496	0	0
RREB1	6239	broad.mit.edu	37	6	7229544	7229544	+	Silent	SNP	C	C	T	rs142150270	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:7229544C>T	ENST00000379938.2	+	10	1749	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	RREB1_ENST00000349384.6_Silent_p.P404P|RREB1_ENST00000334984.6_Silent_p.P404P|RREB1_ENST00000379933.3_Silent_p.P404P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	404					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCAGGACCCCGGCTGCACCA	0.602000													11	36					0	0	0.000673444	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110496	151110496	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:151110496G>A	ENST00000341697.3	-	9	2324	c.633C>T	c.(631-633)ctC>ctT	p.L211L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	211	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCGGAGCGGAGTGGGGGCT	0.627000													6	36					0	0	8.12818e-05	0	0
SAMHD1	25939	broad.mit.edu	37	20	35545197	35545197	+	Silent	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:35545197A>G	ENST00000262878.4	-	9	1189	c.990T>C	c.(988-990)gaT>gaC	p.D330D	SAMHD1_ENST00000373694.5_Silent_p.D115D	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	330					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGCGCTTGTAATCAAAATTAT	0.383000													111	158					0	0	0.000781405	0	0
ZNF397	84307	broad.mit.edu	37	18	32823284	32823284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:32823284C>T	ENST00000585800.1	+	3	1297	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000591206.1_Missense_Mutation_p.L195F|ZNF397_ENST00000589420.1_Intron			Q8NF99	ZN397_HUMAN	zinc finger protein 397	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CATCTGGAAACTCTTGACACT	0.433000													14	55					0	0	0.000219431	0	0
MYH8	4626	broad.mit.edu	37	17	10304266	10304266	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10304266C>T	ENST00000403437.2	-	26	3359	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1089					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCTGATTTCAAATTCTTTC	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	37					0	0	0.00116845	0	0
CATSPERB	79820	broad.mit.edu	37	14	92047361	92047361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:92047361C>T	ENST00000256343.3	-	27	3379	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1075					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACATAAATGCTATAAAAATT	0.438000													13	48					0	0	0.00136819	0	0
UNC79	57578	broad.mit.edu	37	14	94008890	94008890	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:94008890C>T	ENST00000553484.1	+	14	1757	c.1603C>T	c.(1603-1605)Cac>Tac	p.H535Y	UNC79_ENST00000393151.2_Missense_Mutation_p.H535Y|UNC79_ENST00000256339.4_Missense_Mutation_p.H358Y|UNC79_ENST00000555664.1_Missense_Mutation_p.H535Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	535						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGTGGTTTCACTCCACTGC	0.502000													21	41					0	0	0.00152264	0	0
SPTA1	6708	broad.mit.edu	37	1	158647515	158647515	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:158647515C>T	ENST00000368148.3	-	7	1102	c.922G>A	c.(922-924)Gga>Aga	p.G308R	SPTA1_ENST00000368147.3_Missense_Mutation_p.G308R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	308					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTCAAGTCCCTTGTGACTG	0.463000													3	6					0	0	0.00024832	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630057	155630057	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:155630057G>A	ENST00000368340.5	-	10	2106	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Silent_p.I517I|YY1AP1_ENST00000368330.2_Silent_p.I548I|YY1AP1_ENST00000359205.5_Silent_p.I537I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Silent_p.I686I|YY1AP1_ENST00000355499.4_Silent_p.I548I|YY1AP1_ENST00000347088.5_Silent_p.I548I|YY1AP1_ENST00000535662.1_Silent_p.I394I|YY1AP1_ENST00000295566.4_Silent_p.I594I|YY1AP1_ENST00000361831.5_Silent_p.I537I|YY1AP1_ENST00000407221.1_Silent_p.I517I|YY1AP1_ENST00000404643.1_Silent_p.I528I	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATGCAGGGTGGATAACAGGGG	0.532000													16	76					0	0	0.00121646	0	0
NLRX1	79671	broad.mit.edu	37	11	119054038	119054038	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:119054038C>T	ENST00000409109.1	+	10	3405	c.2818C>T	c.(2818-2820)Ctg>Ttg	p.L940L	NLRX1_ENST00000292199.2_Silent_p.L940L|NLRX1_ENST00000409991.1_Silent_p.L940L|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR			Q86UT6	NLRX1_HUMAN	NLR family member X1	940	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACTGCGGGATCTGGAAGATAG	0.617000													13	54					0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	138033575	138033575	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:138033575G>A	ENST00000409968.1	+	12	2657	c.2479G>A	c.(2479-2481)Gga>Aga	p.G827R	THSD7B_ENST00000272643.3_Missense_Mutation_p.G827R|THSD7B_ENST00000413152.2_Missense_Mutation_p.G796R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAAGCCTGTGGAAAGGGGTT	0.393000													4	5					0	0	0.000602214	0	0
TNN	63923	broad.mit.edu	37	1	175105031	175105031	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:175105031G>A	ENST00000239462.4	+	16	3494	c.3381G>A	c.(3379-3381)agG>agA	p.R1127R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1127	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCGATGGAGGAGCTATGTGG	0.532000													16	77					0	0	0.00074312	0	0
TPST1	8460	broad.mit.edu	37	7	65705952	65705952	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:65705952C>T	ENST00000304842.5	+	2	965	c.540C>T	c.(538-540)ctC>ctT	p.L180L	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	180					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCAAATTTCTCCTGATGGTCC	0.408000													24	37					0	0	0.000586117	0	0
ANXA2R	389289	broad.mit.edu	37	5	43039764	43039764	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:43039764G>A	ENST00000314890.3	-	2	1804	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	129							receptor activity										CTGTCCCAGGGATGGAGAGGA	0.642000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	47					0	0	0.000157383	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530616	84530616	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:84530616G>A	ENST00000527857.1	+	0	638					NR_026851.1																						CCCCTGACCTGATCACCACCT	0.532000													9	30					0	0	0.000274275	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607023	58607023	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58607023G>A	ENST00000287275.1	-	2	453	c.63C>T	c.(61-63)atC>atT	p.I21I	GLYATL2_ENST00000533636.1_Intron|GLYATL2_ENST00000532258.1_Silent_p.I21I	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	21						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGGATTCAGGGATGCTCTTTT	0.428000													13	19					0	0	0.000219431	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100499	139100499	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:139100499A>G	ENST00000280612.5	-	11	1595	c.1316T>C	c.(1315-1317)gTt>gCt	p.V439A		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	439					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGAAAGGGCAACCATGAAGAG	0.443000													4	9					0	0	0.00024832	0	0
SPEN	23013	broad.mit.edu	37	1	16255923	16255923	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:16255923C>T	ENST00000375759.3	+	11	3392	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1063					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGCCAGCCCCAAAGACTGT	0.463000													22	72					0	0	0.000586117	0	0
WIPI2	26100	broad.mit.edu	37	7	5262246	5262246	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:5262246G>A	ENST00000288828.4	+	8	915	c.683G>A	c.(682-684)aGg>aAg	p.R228K	WIPI2_ENST00000382384.2_Missense_Mutation_p.R210K|WIPI2_ENST00000404704.3_Missense_Mutation_p.R228K|WIPI2_ENST00000484262.1_Missense_Mutation_p.R169K|WIPI2_ENST00000401525.3_Missense_Mutation_p.R210K	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	228					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		ACCGTGATTAGGGTATTTTCC	0.418000													117	271					0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113318380	113318380	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:113318380T>A	ENST00000297405.5	-	51	8171	c.7927A>T	c.(7927-7929)Ata>Tta	p.I2643L	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2573L|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2603L|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2539L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2643	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTGTTAGTATTCCTCCATTT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	19					0	0	0.000673444	0	0
OR14I1	401994	broad.mit.edu	37	1	248844962	248844962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248844962G>A	ENST00000342623.3	-	1	667	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGGAAATAGGAGATCATCAT	0.493000													31	42					0	0	0.000814825	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608861	2608861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:2608861G>A	ENST00000155840.5	+	9	1298	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	KCNQ1_ENST00000335475.5_Missense_Mutation_p.R270Q	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	397					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ATCTACATCCGGAAGGCCCCC	0.642000													140	276					0	0	0.000781405	0	0
PRKACG	5568	broad.mit.edu	37	9	71628866	71628866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:71628866C>T	ENST00000377276.2	-	1	173	c.143G>A	c.(142-144)aGg>aAg	p.R48K		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	48	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCAGCGTCCTGAGCCGTTC	0.597000													15	49					0	0	0.000308642	0	0
OR51E1	143503	broad.mit.edu	37	11	4674078	4674078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4674078C>T	ENST00000396952.5	+	2	972	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTGCCATCCACTCCTTATC	0.512000													9	39					0	0	0.000274275	0	0
C8B	732	broad.mit.edu	37	1	57406657	57406657	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:57406657C>T	ENST00000543257.1	-	10	1673	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	C8B_ENST00000535057.1_Silent_p.E359E|C8B_ENST00000371237.4_Silent_p.E421E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCACCAAGTCCTCCACCATGG	0.577000													5	16					0	0	8.12818e-05	0	0
TRIM38	10475	broad.mit.edu	37	6	25966959	25966959	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:25966959G>A	ENST00000357085.3	+	3	685	c.209G>A	c.(208-210)aGc>aAc	p.S70N	TRIM38_ENST00000349458.3_Missense_Mutation_p.S70N	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	70					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CATATGGATAGCCTCCGACCC	0.493000													20	23					0	0	0.00121646	0	0
ZNF257	113835	broad.mit.edu	37	19	22255614	22255614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:22255614C>T	ENST00000594947.1	+	2	151	c.7C>T	c.(7-9)Cca>Tca	p.P3S	ZNF257_ENST00000600162.1_Missense_Mutation_p.P3S	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTCAGGGACCACTGACAAT	0.408000													26	77					0	0	0.000878237	0	0
CSMD3	114788	broad.mit.edu	37	8	113347699	113347699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:113347699C>T	ENST00000297405.5	-	45	7268	c.7024G>A	c.(7024-7026)Gga>Aga	p.G2342R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2342	CUB 13.					integral to membrane|plasma membrane		p.G2302I(1)|p.G2342I(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						TGGTCTGGTCCATCCCTATGA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	15					0	0	0.000978159	0	0
OR10H2	26538	broad.mit.edu	37	19	15839270	15839270	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:15839270G>A	ENST00000305899.3	+	1	437	c.417G>A	c.(415-417)cgG>cgA	p.R139R		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGAGCCCACGGGGCTGCGCCT	0.637000													29	38					0	0	0.00127121	0	0
TNXB	7148	broad.mit.edu	37	6	32023668	32023668	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32023668C>T	ENST00000375244.3	-	24	8628	c.8427G>A	c.(8425-8427)gaG>gaA	p.E2809E	TNXB_ENST00000375247.2_Silent_p.E2809E			P22105	TENX_HUMAN	tenascin XB	2867	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCCGCCCCTCGTGGAGGC	0.627000													85	150					0	0	0.000781405	0	0
CACNG7	59284	broad.mit.edu	37	19	54418660	54418660	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54418660T>C	ENST00000391767.1	+	4	537	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	CACNG7_ENST00000222212.2_Missense_Mutation_p.F109L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.F109L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	109					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGTCAGCCTCTTCCTCGTGTT	0.607000													17	49					0	0	0.00121646	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015697	130015697	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:130015697G>A	ENST00000422113.2	-	3	1348	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	341						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCAAATGGAAGGGCTGCT	0.537000													17	70					0	0	0.00074312	0	0
FAT4	79633	broad.mit.edu	37	4	126411861	126411861	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126411861C>T	ENST00000394329.3	+	17	13897	c.13884C>T	c.(13882-13884)atC>atT	p.I4628I	FAT4_ENST00000335110.5_Silent_p.I2869I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4628					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I4628I(1)|p.I4571I(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGCAGCATCGCCCCTTCGG	0.512000													12	55					0	0	0.00136819	0	0
BPIFC	254240	broad.mit.edu	37	22	32853344	32853344	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:32853344C>G	ENST00000397452.1	-	2	140	c.30G>C	c.(28-30)tgG>tgC	p.W10C	BPIFC_ENST00000300399.3_Missense_Mutation_p.W10C|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000397450.1_Missense_Mutation_p.W10C			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	10						extracellular region	lipopolysaccharide binding|phospholipid binding										GGAAACATCCCCAGAGGACTG	0.408000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	51					0	0	0.000602214	0	0
WDR16	146845	broad.mit.edu	37	17	9515667	9515667	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:9515667G>A	ENST00000352665.5	+	8	965	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	WDR16_ENST00000299764.5_Missense_Mutation_p.R309Q|WDR16_ENST00000396219.3_Missense_Mutation_p.R231Q	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	299						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCACACTTCGAGGAGAAGGA	0.428000													11	61					0	0	0.000673444	0	0
PRR12	57479	broad.mit.edu	37	19	50128183	50128183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:50128183C>T	ENST00000418929.2	+	12	5816	c.5804C>T	c.(5803-5805)cCt>cTt	p.P1935L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1114							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGCTGCGGCCTGCTGGGGAA	0.667000													13	42					0	0	0.00136819	0	0
ABCC6	368	broad.mit.edu	37	16	16271312	16271312	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:16271312C>T	ENST00000205557.7	-	19	2616	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	863					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTAGTACCTCCTTCTCCTCTA	0.582000													37	82					0	0	0.00128727	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433100	140433100	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140433100G>A	ENST00000306549.3	+	1	2122	c.2045G>A	c.(2044-2046)aGa>aAa	p.R682K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCATTCTAGAAAGGTAAAT	0.438000													62	114					0	0	0.000781405	0	0
DCAF16	54876	broad.mit.edu	37	4	17805749	17805749	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:17805749G>A	ENST00000382247.1	-	3	1076	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	DCAF16_ENST00000536863.1_Missense_Mutation_p.P6S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	6						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TCAGGAGAGGGATTTCTAGGA	0.393000													11	34					0	0	0.000978159	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801022	62801022	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62801022G>A	ENST00000582986.1	-	0	810					NR_024386.1																						CCTTCTTCCTGGGGAAGGTAC	0.587000													4	10					0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55943312	55943312	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:55943312G>A	ENST00000373965.2	-	14	1897	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	PCDH15_ENST00000395446.1_Silent_p.I494I|PCDH15_ENST00000320301.6_Silent_p.I494I|PCDH15_ENST00000373957.3_Silent_p.I472I|PCDH15_ENST00000395430.1_Silent_p.I494I|PCDH15_ENST00000437009.1_Silent_p.I494I|PCDH15_ENST00000395432.2_Silent_p.I457I|PCDH15_ENST00000409834.1_Silent_p.I105I|PCDH15_ENST00000361849.3_Silent_p.I494I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.I501I|PCDH15_ENST00000395433.1_Silent_p.I472I|PCDH15_ENST00000414778.1_Silent_p.I499I|PCDH15_ENST00000395438.1_Silent_p.I494I|PCDH15_ENST00000373955.1_Silent_p.I494I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	494	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAATATTGACGATGACTGGCT	0.393000										HNSCC(58;0.16)			30	35					0	0	0.000491102	0	0
CCDC158	339965	broad.mit.edu	37	4	77288456	77288456	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:77288456C>T	ENST00000388914.3	-	11	1973	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	607										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCTTAAGTTCCTTTAGTTCCA	0.403000													32	56					0	0	0.00128727	0	0
COL1A1	1277	broad.mit.edu	37	17	48274591	48274591	+	Missense_Mutation	SNP	C	C	T	rs67163050		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48274591C>T	ENST00000225964.5	-	10	818	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	234	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTTCCAGCTTCCCCCTGAGAG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						35	46					0	0	0.00111076	0	0
RDH14	57665	broad.mit.edu	37	2	18736667	18736667	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:18736667G>A	ENST00000381249.3	-	2	908	c.801C>T	c.(799-801)ctC>ctT	p.L267L	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CCAAATTGAAGAGTGGTTTGA	0.458000													53	109					0	0	0.000781405	0	0
FITM1	161247	broad.mit.edu	37	14	24601790	24601790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24601790C>T	ENST00000267426.5	+	2	926	c.637C>T	c.(637-639)Cct>Tct	p.P213S	FITM1_ENST00000559294.1_Missense_Mutation_p.P17S	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	213					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCATGGGCTTCCTGCCGGCGC	0.592000													34	40					0	0	0.000692331	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213034	26213034	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:26213034C>T	ENST00000379034.1	+	2	1220	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	357	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCTATGAGTTCCTGTGGGGTC	0.502000													40	20					0	0	0.000781405	0	0
MIB2	142678	broad.mit.edu	37	1	1560202	1560202	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:1560202C>T	ENST00000357210.4	+	5	837	c.621C>T	c.(619-621)ctC>ctT	p.L207L	MIB2_ENST00000504599.1_Silent_p.L163L|MIB2_ENST00000360522.4_Silent_p.L207L|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000355826.5_Silent_p.L250L|MIB2_ENST00000505820.2_Silent_p.L264L|MIB2_ENST00000378708.1_Silent_p.L149L|MIB2_ENST00000520777.1_Silent_p.L264L|MIB2_ENST00000378710.3_Silent_p.L207L|MIB2_ENST00000378712.1_Silent_p.L149L|MIB2_ENST00000518681.1_Silent_p.L264L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	207	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGGCCTCCCGAGGATCC	0.602000													9	27					0	0	0.000442599	0	0
HNF4A	3172	broad.mit.edu	37	20	43052831	43052831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:43052831C>T	ENST00000316099.3	+	8	1155	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	HNF4A_ENST00000415691.1_Nonsense_Mutation_p.Q356*|HNF4A_ENST00000457232.1_Nonsense_Mutation_p.Q334*|HNF4A_ENST00000443598.2_Nonsense_Mutation_p.Q356*	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	356					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGAGCAGATCCAGTTCATCAA	0.602000													40	179					0	0	0.000781405	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139264	178139264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:178139264G>A	ENST00000335815.2	-	5	1812	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	539					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTTCGATGCTGAATAAGAGCT	0.368000													16	87					0	0	0.000566183	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820676	35820676	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:35820676G>A	ENST00000399989.1	+	2	642	c.363G>A	c.(361-363)gtG>gtA	p.V121V	MAGEB16_ENST00000399992.1_Silent_p.V153V|MAGEB16_ENST00000399988.1_Silent_p.V121V|MAGEB16_ENST00000399985.1_Silent_p.V121V|MAGEB16_ENST00000399987.1_Silent_p.V121V	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	121	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTTTTGGTGAATTTCATGC	0.443000													14	11					0	0	0.00185496	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257140	140257140	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140257140G>A	ENST00000398631.2	+	1	2083	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTGGTGGATATTAACGT	0.652000													9	42					0	0	0.000673444	0	0
ZNF816	125893	broad.mit.edu	37	19	53454394	53454394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53454394G>A	ENST00000357666.4	-	5	934	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	ZNF816_ENST00000444460.2_Missense_Mutation_p.L212F|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGAATGGAGGAAATTCTTC	0.373000													17	58					0	0	0.000422831	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068880	193068880	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:193068880G>A	ENST00000342358.4	-	7	834	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	239					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACACACTTAAGACAATGGAGA	0.403000													8	9					0	0	0.000274275	0	0
TMEM155	132332	broad.mit.edu	37	4	122682754	122682754	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:122682754C>T	ENST00000337677.5	-	5	709	c.151G>A	c.(151-153)Gga>Aga	p.G51R	TMEM155_ENST00000394396.1_Missense_Mutation_p.G51R|TMEM155_ENST00000394394.1_Missense_Mutation_p.G51R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	51						extracellular region				breast(1)|lung(5)	6						CTTGCCATTCCCAGAAAAGCC	0.428000													16	34					0	0	0.000958276	0	0
C1S	716	broad.mit.edu	37	12	7169848	7169848	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7169848C>T	ENST00000406697.1	+	6	703	c.75C>T	c.(73-75)tcC>tcT	p.S25S	C1S_ENST00000328916.3_Silent_p.S25S|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.S25S			P09871	C1S_HUMAN	complement component 1, s subcomponent	25	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGATCCTGTCCCCTAACTATC	0.478000													59	46					0	0	0.000781405	0	0
JPH2	57158	broad.mit.edu	37	20	42806612	42806612	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:42806612C>T	ENST00000342272.3	-	2	767	c.379_splice	c.e2-1	p.G127_splice	JPH2_ENST00000372980.3_Intron	NM_175913.3	NP_787109.2	Q9BR39	JPH2_HUMAN	junctophilin 2	127	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ttaacacatccctaaaggaaa	0.443000													52	84					0	0	0.000781405	0	0
USP44	84101	broad.mit.edu	37	12	95926668	95926668	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:95926668C>T	ENST00000258499.3	-	2	1653	c.1365G>A	c.(1363-1365)agG>agA	p.R455R	USP44_ENST00000393091.2_Silent_p.R455R|USP44_ENST00000552440.1_Silent_p.R455R|USP44_ENST00000537435.2_Silent_p.R455R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	455					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGATGAGTTTCCTTTGAGAAG	0.338000													9	59					0	0	0.000978159	0	0
FCN1	2219	broad.mit.edu	37	9	137808303	137808303	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:137808303C>T	ENST00000371806.3	-	2	199	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	36					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCACCACCTTCACCTCTGCAG	0.642000													48	95					0	0	0.000781405	0	0
SLIT2	9353	broad.mit.edu	37	4	20619119	20619119	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:20619119G>A	ENST00000504154.1	+	36	4446	c.4194G>A	c.(4192-4194)ttG>ttA	p.L1398L	SLIT2_ENST00000273739.5_Silent_p.L1411L|SLIT2_ENST00000503837.1_Silent_p.L1394L|SLIT2_ENST00000503823.1_Silent_p.L1390L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1398					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTAAGTGCTTGGAGGGCCATG	0.532000													8	11					0	0	0.000274275	0	0
SPDYA	245711	broad.mit.edu	37	2	29063175	29063175	+	Silent	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:29063175C>A	ENST00000334056.5	+	7	879	c.690C>A	c.(688-690)ctC>ctA	p.L230L	SPDYA_ENST00000379579.4_Silent_p.L230L|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	230					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTGTTCACTCTGTGGTAAAA	0.443000													13	36					6.31663e-08	4.01678e-07	0.000308642	1	0
UQCRC1	7384	broad.mit.edu	37	3	48638486	48638486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48638486C>T	ENST00000203407.5	-	8	1304	c.888G>A	c.(886-888)tgG>tgA	p.W296*		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	296					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCGGGCTGGCCCAGCCAGGAC	0.582000													6	27					0	0	0.00116845	0	0
CHRND	1144	broad.mit.edu	37	2	233396072	233396072	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:233396072G>A	ENST00000258385.3	+	8	863	c.831G>A	c.(829-831)aaG>aaA	p.K277K	CHRND_ENST00000536614.1_3'UTR|CHRND_ENST00000543200.1_Silent_p.K262K|CHRND_ENST00000457943.2_Silent_p.K83K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	277					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTGGTGAGAAGACATCAGTGG	0.617000													13	36					0	0	0.000219431	0	0
MDFIC	29969	broad.mit.edu	37	7	114619728	114619728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:114619728C>T	ENST00000257724.3	+	4	975	c.712C>T	c.(712-714)Caa>Taa	p.Q238*	MDFIC_ENST00000393486.1_Nonsense_Mutation_p.Q129*			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	129	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ACCTGTTTCTCAAAAAATGCA	0.433000													23	42					0	0	0.00047179	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411972	23411972	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:23411972G>A	ENST00000379361.4	+	3	3197	c.2337G>A	c.(2335-2337)aaG>aaA	p.K779K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	779					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTCTGGGCAAGGATTTCACAA	0.378000													17	14					0	0	0.000566183	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:151358362G>A	ENST00000370314.4	-	9	1221	c.983C>T	c.(982-984)tCc>tTc	p.S328F	GABRA3_ENST00000370311.1_Missense_Mutation_p.S328F|GABRA3_ENST00000535043.1_Missense_Mutation_p.S328F|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.S328F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000													18	19					0	0	0.000958276	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580861	140580861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140580861C>T	ENST00000354757.3	+	1	1514	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S140F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		505	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTGGTCTCCATCAACACA	0.652000													34	185					0	0	0.000953801	0	0
IDO2	169355	broad.mit.edu	37	8	39845389	39845389	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39845389G>A	ENST00000502986.2	+	7	730		c.e7-1		IDO2_ENST00000389060.4_Splice_Site|IDO2_ENST00000343295.4_Splice_Site|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2						tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCTTCCCAAGGAACCTGGAG	0.507000													6	12					0	0	0.00116845	0	0
LRRC16A	55604	broad.mit.edu	37	6	25471398	25471398	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:25471398C>T	ENST00000329474.6	+	10	1060	c.690_splice	c.e10-1	p.S231_splice	LRRC16A_ENST00000377969.3_Splice_Site_p.S70_splice	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	231					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGTTACAGTCCACTGATGTC	0.348000													33	61					0	0	0.00111076	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12980082	12980082	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12980082G>T	ENST00000361079.2	+	4	1357	c.1274G>T	c.(1273-1275)tGc>tTc	p.C425F						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTCTCTGCTGGGGGAGA	0.597000													12	70					2.35188e-11	1.49935e-10	0.00074312	1	0
LRPAP1	4043	broad.mit.edu	37	4	3519816	3519816	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:3519816G>A	ENST00000500728.2	-	5	842	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	232					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCAGGCCCTGGTTGATGCTGC	0.662000													6	20					0	0	8.12818e-05	0	0
IDH1	3417	broad.mit.edu	37	2	209101890	209101890	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:209101890C>T	ENST00000415913.1	-	10	1539	c.1158G>A	c.(1156-1158)gtG>gtA	p.V386V	IDH1_ENST00000345146.2_Silent_p.V386V|IDH1_ENST00000446179.1_Silent_p.V386V			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	386					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CAGAACGTTGCACACTAACGG	0.353000			Mis		gliobastoma								6	9					0	0	8.12818e-05	0	0
HIF1A	3091	broad.mit.edu	37	14	62200959	62200959	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:62200959G>A	ENST00000394997.1	+	8	1252	c.987G>A	c.(985-987)aaG>aaA	p.K329K	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.K352K|HIF1A_ENST00000323441.6_Silent_p.K328K|HIF1A_ENST00000337138.4_Silent_p.K328K|HIF1A_ENST00000557538.1_Silent_p.K269K			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	328	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATAACACCAAGAATTCTCAAC	0.373000													10	28					0	0	0.000978159	0	0
TMCO4	255104	broad.mit.edu	37	1	20072049	20072049	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:20072049C>G	ENST00000294543.6	-	10	1094	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R	TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Missense_Mutation_p.G285R	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	285						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCGAGCCACCCCGTGACGGCG	0.587000													28	108					0	0	0.001512	0	0
IGSF10	285313	broad.mit.edu	37	3	151156353	151156353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:151156353C>T	ENST00000282466.3	-	6	5995	c.5996G>A	c.(5995-5997)gGa>gAa	p.G1999E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1999	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACAGGGATCCATTAGGGTA	0.433000													10	27					0	0	0.000442599	0	0
ELF4	2000	broad.mit.edu	37	X	129200986	129200986	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:129200986C>T	ENST00000308167.5	-	9	2081	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ELF4_ENST00000335997.7_Missense_Mutation_p.E568K	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	568					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCAGGAGCTCCCTCAGGGTC	0.597000			T	ERG	AML								51	27					0	0	0.000781405	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818228	146818228	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:146818228G>A	ENST00000361727.3	+	6	1428	c.912G>A	c.(910-912)gaG>gaA	p.E304E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	304	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			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)			CCAATGGAGAGTTTGACTACC	0.463000										HNSCC(39;0.1)			11	36					0	0	0.00136819	0	0
EML3	256364	broad.mit.edu	37	11	62376896	62376896	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62376896G>A	ENST00000394773.2	-	6	995	c.688C>T	c.(688-690)Ccg>Tcg	p.P230S	EML3_ENST00000531557.1_Missense_Mutation_p.P13S|EML3_ENST00000278845.4_Missense_Mutation_p.P231S|EML3_ENST00000529309.1_Missense_Mutation_p.P230S|EML3_ENST00000494176.2_Missense_Mutation_p.P202S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	230						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATGCCAGACGGGATGTACATG	0.577000													42	75					0	0	0.000781405	0	0
OR5F1	338674	broad.mit.edu	37	11	55761558	55761558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55761558G>A	ENST00000278409.1	-	1	543	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAAAGTGGGGGACTGTCACAG	0.448000													5	35					0	0	0.000602214	0	0
SYT15	83849	broad.mit.edu	37	10	46969437	46969437	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:46969437C>T	ENST00000374325.3	-	2	176	c.24G>A	c.(22-24)gtG>gtA	p.V8V	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_Silent_p.V8V|SYT15_ENST00000374321.4_Silent_p.V8V	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	8						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCCCCCAATCACCAGGGCCA	0.627000													7	14					0	0	0.000157383	0	0
FER1L5	90342	broad.mit.edu	37	2	97363284	97363284	+	RNA	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:97363284A>T	ENST00000457909.1	+	0	3608							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTCTACAGAAAGTTCTGGTT	0.557000													11	15					0	0	0.000219431	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457770	48457770	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48457770G>A	ENST00000358536.4	-	17	3734	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	PLXNB1_ENST00000296440.6_Silent_p.H1155H|PLXNB1_ENST00000456774.1_Silent_p.H972H|PLXNB1_ENST00000358459.4_Silent_p.H972H|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1155	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.H1155H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCAAAGTCGTGTTCTGAGA	0.642000													19	63					0	0	0.00121646	0	0
SCN9A	6335	broad.mit.edu	37	2	167168253	167168253	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:167168253G>A	ENST00000303354.6	-	2	354	c.14C>T	c.(13-15)cCt>cTt	p.P5L	SCN9A_ENST00000409672.1_Missense_Mutation_p.P5L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P5L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P5L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	5						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCCTGGGGGAGGCAACATTGC	0.403000													21	45					0	0	0.00121646	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:22024875C>T	ENST00000406385.1	+	3	163	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_ENST00000398831.3_Missense_Mutation_p.R35C|PPIL2_ENST00000412327.1_Missense_Mutation_p.R35C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R35C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R35C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R35C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000													74	120					0	0	0.000781405	0	0
OTOP1	133060	broad.mit.edu	37	4	4199131	4199131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:4199131G>A	ENST00000296358.4	-	5	1454	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	477					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGGGGCAGGAAGAAGCAAG	0.542000													34	54					0	0	0.000814825	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39103614C>T	ENST00000379907.4	+	17	1958	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_ENST00000437682.2_Missense_Mutation_p.R512C|ADAM32_ENST00000519315.1_Missense_Mutation_p.R505C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000													13	40					0	0	0.000308642	0	0
C9orf152	401546	broad.mit.edu	37	9	112963727	112963727	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:112963727G>A	ENST00000400613.4	-	2	830	c.221C>T	c.(220-222)tCg>tTg	p.S74L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	74										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGACCATCGATTCTGCAGG	0.552000													6	29					0	0	0.00116845	0	0
CASC5	57082	broad.mit.edu	37	15	40943753	40943753	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:40943753G>A	ENST00000346991.5	+	21	6765	c.6375G>A	c.(6373-6375)gaG>gaA	p.E2125E	CASC5_ENST00000399668.2_Silent_p.E2099E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2125	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACTGAAGAGCTACTGGATC	0.363000													4	22					0	0	0.000157383	0	0
DNAH11	8701	broad.mit.edu	37	7	21856288	21856288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:21856288G>A	ENST00000328843.6	+	65	10588	c.10557G>A	c.(10555-10557)atG>atA	p.M3519I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3512I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3519	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTATGGAATGGACCTGAAAG	0.458000									Kartagener syndrome				13	13					0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82784993	82784993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:82784993C>T	ENST00000423517.2	-	2	1301	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	PCLO_ENST00000333891.8_Missense_Mutation_p.E322K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	310	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGATTTTTCATGTCCAGGC	0.547000													14	28					0	0	0.000219431	0	0
KCNC2	3747	broad.mit.edu	37	12	75444474	75444474	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:75444474G>A	ENST00000549446.1	-	3	1991	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	KCNC2_ENST00000298972.1_Silent_p.T437T|KCNC2_ENST00000350228.2_Silent_p.T437T|KCNC2_ENST00000548513.1_Silent_p.T437T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Silent_p.T437T|KCNC2_ENST00000550433.1_Silent_p.T437T|KCNC2_ENST00000341669.3_Silent_p.T437T|KCNC2_ENST00000540018.1_Silent_p.T437T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	437	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATAACCCAGGGTAGTCATGG	0.542000													4	7					0	0	0.00024832	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370477	38370477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:38370477G>A	ENST00000322350.5	+	6	971	c.625G>A	c.(625-627)Gat>Aat	p.D209N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D209N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	209	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCGATCCAGATACCAACTA	0.532000													18	34					0	0	0.000958276	0	0
GJA8	2703	broad.mit.edu	37	1	147380200	147380200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:147380200G>A	ENST00000240986.4	+	2	171	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	GJA8_ENST00000369235.1_Missense_Mutation_p.A40T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	40					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTTGGCACGGCCGCAGAGTT	0.592000													16	63					0	0	0.000308642	0	0
ANK3	288	broad.mit.edu	37	10	61959950	61959950	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:61959950G>A	ENST00000280772.1	-	13	1619	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	ANK3_ENST00000503366.1_Silent_p.S459S|ANK3_ENST00000373827.2_Silent_p.S470S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	476					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S476S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGCTTGGCCGGAGCGAGCTG	0.468000													27	20					0	0	0.000491102	0	0
TJP3	27134	broad.mit.edu	37	19	3731984	3731984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:3731984C>T	ENST00000541714.2	+	6	1127	c.665C>T	c.(664-666)tCg>tTg	p.S222L	TJP3_ENST00000589378.1_Missense_Mutation_p.S231L|TJP3_ENST00000587686.1_Missense_Mutation_p.S241L|TJP3_ENST00000382008.3_Missense_Mutation_p.S222L|TJP3_ENST00000539908.2_Missense_Mutation_p.S186L|TJP3_ENST00000262968.9_Missense_Mutation_p.S241L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	222	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTACAGATTCGGGCCTGGCT	0.592000													22	28					0	0	0.00047179	0	0
C12orf43	64897	broad.mit.edu	37	12	121442045	121442045	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121442045C>A	ENST00000445832.3	-	6	712	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	C12orf43_ENST00000537817.1_Missense_Mutation_p.G235W|C12orf43_ENST00000288757.3_Missense_Mutation_p.G234W|C12orf43_ENST00000366211.2_Missense_Mutation_p.G193W|C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.G224W			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	234	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTTTGGTCCCAAGCGACACC	0.572000													19	1051					0.00121646	0.00765846	0.00121646	1	0
MYT1L	23040	broad.mit.edu	37	2	1842995	1842995	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:1842995C>T	ENST00000399161.2	-	21	3753	c.3006G>A	c.(3004-3006)acG>acA	p.T1002T	MYT1L_ENST00000428368.2_Silent_p.T1000T|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1002					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACATGCCTTCCGTCTTGACCG	0.667000													12	32					0	0	0.00185496	0	0
WWC1	23286	broad.mit.edu	37	5	167891912	167891912	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:167891912A>C	ENST00000265293.4	+	21	3597	c.3095A>C	c.(3094-3096)cAg>cCg	p.Q1032P	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.Q1038P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1032	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTGCCACAGTGGTTGCGT	0.622000													13	55					0	0	0.000308642	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184702	39184702	+	Silent	SNP	G	G	A	rs34628941	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:39184702G>A	ENST00000273153.5	-	5	1791	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	CSRNP1_ENST00000514182.1_Silent_p.P538P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	538					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCCAGGCAGGGGGAAGTGAG	0.577000													26	47					0	0	0.000720815	0	0
NFASC	23114	broad.mit.edu	37	1	204944489	204944489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:204944489C>T	ENST00000367172.4	+	15	1977	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	NFASC_ENST00000404907.1_Missense_Mutation_p.S561F|NFASC_ENST00000404076.1_Missense_Mutation_p.S544F|NFASC_ENST00000338515.6_Missense_Mutation_p.S550F|NFASC_ENST00000539706.1_Missense_Mutation_p.S561F|NFASC_ENST00000367171.4_Missense_Mutation_p.S550F|NFASC_ENST00000403080.1_Missense_Mutation_p.S550F|NFASC_ENST00000513543.1_Missense_Mutation_p.S561F|NFASC_ENST00000367169.4_Missense_Mutation_p.S550F|NFASC_ENST00000401399.1_Missense_Mutation_p.S550F|NFASC_ENST00000339876.6_Missense_Mutation_p.S550F|NFASC_ENST00000360049.4_Missense_Mutation_p.S561F|NFASC_ENST00000367170.4_Missense_Mutation_p.S550F|NFASC_ENST00000338586.6_Missense_Mutation_p.S550F			O94856	NFASC_HUMAN	neurofascin	550	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACGACCCCTCCCTGAAACTC	0.597000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	78					0	0	0.000781405	0	0
SEH1L	81929	broad.mit.edu	37	18	12982560	12982560	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:12982560C>T	ENST00000262124.11	+	7	932	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	SEH1L_ENST00000399892.2_Missense_Mutation_p.H269Y|SEH1L_ENST00000592582.1_3'UTR	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	269					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTTTGAAATCCATATAGTGGC	0.383000													11	42					0	0	0.000978159	0	0
VPS13D	55187	broad.mit.edu	37	1	12343419	12343419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12343419C>T	ENST00000358136.3	+	21	5390	c.5260C>T	c.(5260-5262)Caa>Taa	p.Q1754*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q1754*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1754					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGGAAGTCCAAGACAAGGA	0.478000													15	24					0	0	0.000566183	0	0
DNAH9	1770	broad.mit.edu	37	17	11645623	11645623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:11645623C>T	ENST00000262442.3	+	30	6172	c.6104C>T	c.(6103-6105)tCc>tTc	p.S2035F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2035F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2035	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCTTCTCTCCAAACAGGTA	0.453000													16	60					0	0	0.00188189	0	0
MTL5	9633	broad.mit.edu	37	11	68478367	68478367	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68478367C>T	ENST00000255087.5	-	9	1492	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	437					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTGGAAGTCCTGAAAATTTC	0.423000													23	33					0	0	0.000586117	0	0
IQCF3	401067	broad.mit.edu	37	3	51864682	51864682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:51864682C>T	ENST00000444293.1	+	3	260	c.220C>T	c.(220-222)Cca>Tca	p.P74S	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000456080.1_Silent_p.R110R|IQCF3_ENST00000446775.1_Silent_p.R110R|IQCF3_ENST00000440739.2_Silent_p.R110R|IQCF3_ENST00000437810.2_Silent_p.R110R			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGTTACCGCCAAATGTGCA	0.567000													8	68					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179645916	179645916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179645916C>T	ENST00000589042.1	-	21	3679	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	TTN_ENST00000342992.6_Missense_Mutation_p.G1152E|TTN_ENST00000460472.2_Missense_Mutation_p.G1106E|TTN_ENST00000359218.5_Missense_Mutation_p.G1106E|TTN_ENST00000591111.1_Missense_Mutation_p.G1152E|TTN_ENST00000342175.6_Missense_Mutation_p.G1106E|TTN_ENST00000360870.5_Missense_Mutation_p.G1152E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1152	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTATTCTCCAGCATCATC	0.368000													12	19					0	0	0.000308642	0	0
CXorf22	170063	broad.mit.edu	37	X	35993850	35993850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:35993850C>T	ENST00000297866.5	+	15	2599	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	845										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGCAGTTGTCCAGCCAGTAAC	0.413000													24	24					0	0	0.000375601	0	0
APOF	319	broad.mit.edu	37	12	56755826	56755826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:56755826G>A	ENST00000398189.3	-	2	241	c.164C>T	c.(163-165)tCc>tTc	p.S55F	APOF_ENST00000541105.1_Missense_Mutation_p.S37F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	55					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGGTGTCTGGGATTCCAAGGA	0.522000													54	70					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38926811	38926811	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38926811G>A	ENST00000302328.3	-	17	3230	c.3032C>T	c.(3031-3033)cCc>cTc	p.P1011L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P973L|SCN11A_ENST00000444237.2_Missense_Mutation_p.P1011L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1011L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1011					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGCTTTTTGGGAACCATCTC	0.423000													10	12					0	0	0.000978159	0	0
TPR	7175	broad.mit.edu	37	1	186287932	186287932	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:186287932G>A	ENST00000367478.3	-	47	6893	c.6597C>T	c.(6595-6597)ttC>ttT	p.F2199F		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2199					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CATGAGCTAGGAACAGGGGTG	0.403000			T	NTRK1	papillary thyroid								19	83					0	0	0.00121646	0	0
LRP2	4036	broad.mit.edu	37	2	170019101	170019101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170019101G>A	ENST00000263816.3	-	63	12053	c.11768C>T	c.(11767-11769)cCg>cTg	p.P3923L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3923					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAGGGGTCGGTTTTCTACC	0.383000													16	29					0	0	0.000422831	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279966	217279966	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:217279966C>T	ENST00000357276.4	+	3	869	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S180F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	180					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCAGCTCATTCCTCTGGACAG	0.512000									Schimke Immuno-Osseous Dysplasia				43	108					0	0	0.000589545	0	0
NLRP3	114548	broad.mit.edu	37	1	247587957	247587957	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:247587957C>T	ENST00000366497.2	+	4	1992	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	NLRP3_ENST00000336119.3_Silent_p.V404V|NLRP3_ENST00000391828.3_Silent_p.V404V|NLRP3_ENST00000348069.2_Silent_p.V404V|NLRP3_ENST00000366496.2_Silent_p.V404V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.V404V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	404	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAACGAGGTCCTCTTCACCA	0.532000													5	31					0	0	0.00116845	0	0
DCC	1630	broad.mit.edu	37	18	50985607	50985607	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:50985607G>A	ENST00000442544.2	+	24	4014	c.3398G>A	c.(3397-3399)cGg>cAg	p.R1133Q	DCC_ENST00000581580.1_Missense_Mutation_p.R768Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1133					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATAGGAAACGGGCCACCCAC	0.443000													7	20					0	0	0.000157383	0	0
SYT12	91683	broad.mit.edu	37	11	66807362	66807362	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:66807362C>T	ENST00000393946.2	+	7	1471	c.309C>T	c.(307-309)acC>acT	p.T103T	SYT12_ENST00000525457.1_Silent_p.T103T|SYT12_ENST00000527043.1_Silent_p.T103T|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	103						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGAGGACACCTTTGAGAGCA	0.647000													20	87					0	0	0.00188189	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141957	133141957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:133141957C>T	ENST00000388996.4	-	15	2591	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E	KCNQ3_ENST00000521134.1_Missense_Mutation_p.G604E|KCNQ3_ENST00000519445.1_Missense_Mutation_p.G712E	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	724					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAACTGGGTCCCCCTCGGGG	0.577000													14	24					0	0	0.000219431	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973221	116973221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:116973221G>A	ENST00000368576.3	-	6	1339	c.1096C>T	c.(1096-1098)Caa>Taa	p.Q366*	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_3'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	366						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGTAGCATTTGGAAATTTCTG	0.383000													23	78					0	0	0.000720815	0	0
MTA2	9219	broad.mit.edu	37	11	62362538	62362538	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62362538G>A	ENST00000278823.2	-	15	1877	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	MTA2_ENST00000527204.1_Silent_p.S323S|MTA2_ENST00000524902.1_Silent_p.S323S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	496					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GAAGTCGAATGGAGCCTGGAG	0.498000													25	97					0	0	0.000586117	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171178045C>T	ENST00000441535.1	+	9	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P457S|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	457					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000													38	55					0	0	0.000589545	0	0
ACPP	55	broad.mit.edu	37	3	132063801	132063801	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:132063801G>A	ENST00000336375.5	+	7	769	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	ACPP_ENST00000351273.7_Missense_Mutation_p.A227T|ACPP_ENST00000475741.1_Missense_Mutation_p.A194T	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	227						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCCTCCTGGGCCACTGAGGA	0.408000													20	23					0	0	0.00047179	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983606	51983606	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51983606G>A	ENST00000396477.4	+	2	93	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CEACAM18_ENST00000451626.1_Silent_p.G85G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	85						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTGTGGGATCTGCCAGG	0.507000													4	12					0	0	0.00116845	0	0
MYH1	4619	broad.mit.edu	37	17	10400755	10400755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10400755C>T	ENST00000226207.5	-	32	4474	c.4380G>A	c.(4378-4380)tgG>tgA	p.W1460*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1460						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTTCTGTTTCCATTCTGCCA	0.393000													20	18					0	0	0.00152264	0	0
LRCH4	4034	broad.mit.edu	37	7	100173606	100173606	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:100173606G>A	ENST00000310300.6	-	16	1716	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	LRCH4_ENST00000497245.1_Missense_Mutation_p.P103L	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	555	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGGCAGGGGCCGCTGCAG	0.677000													9	17					0	0	0.000274275	0	0
APOL3	80833	broad.mit.edu	37	22	36537305	36537305	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:36537305C>T	ENST00000424878.2	-	4	2700	c.552G>A	c.(550-552)gaG>gaA	p.E184E	APOL3_ENST00000397293.2_Silent_p.E313E|APOL3_ENST00000361710.2_Silent_p.E184E|APOL3_ENST00000349314.2_Silent_p.E384E|APOL3_ENST00000397287.2_Silent_p.E184E			O95236	APOL3_HUMAN	apolipoprotein L, 3	384					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCATTAGATTCTCCTCCAGCT	0.552000													36	71					0	0	0.000692331	0	0
CCDC108	255101	broad.mit.edu	37	2	219903229	219903229	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:219903229G>A	ENST00000341552.5	-	4	308	c.225C>T	c.(223-225)gtC>gtT	p.V75V	CCDC108_ENST00000441968.1_Silent_p.V75V|CCDC108_ENST00000410037.1_Silent_p.V10V|CCDC108_ENST00000295729.2_Silent_p.V10V|CCDC108_ENST00000409865.3_Silent_p.V64V|CCDC108_ENST00000453220.1_Silent_p.V75V|CCDC108_ENST00000324264.6_Silent_p.V10V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	75						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACCTCACGACGGAGCTTG	0.592000													18	26					0	0	0.00121646	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541689	18541689	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:18541689G>A	ENST00000345096.4	-	7	1023	c.324C>T	c.(322-324)ggC>ggT	p.G108G	TBC1D28_ENST00000405044.1_Silent_p.G108G			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	108	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ACAACGCCCGGCCCCGCACCG	0.512000													25	109					0	0	0.000878237	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789022	1789022	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1789022G>A	ENST00000539485.1	-	24	3206	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	ATP8B3_ENST00000310127.6_Silent_p.L981L|ATP8B3_ENST00000525591.1_Silent_p.L944L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	981					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCAGCAGGAGGCGCTGCA	0.637000													4	15					0	0	0.00024832	0	0
KIF14	9928	broad.mit.edu	37	1	200523671	200523671	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:200523671T>A	ENST00000367350.4	-	29	4930	c.4492A>T	c.(4492-4494)Aat>Tat	p.N1498Y		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1498	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGAGCACGATTAACCATCCTC	0.279000													21	33					0	0	0.000375601	0	0
TPO	7173	broad.mit.edu	37	2	1507836	1507836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:1507836G>A	ENST00000345913.4	+	14	2594	c.2503G>A	c.(2503-2505)Ggg>Agg	p.G835R	TPO_ENST00000329066.4_Missense_Mutation_p.G835R|TPO_ENST00000382198.1_Missense_Mutation_p.G662R|TPO_ENST00000382201.3_Missense_Mutation_p.G778R|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G662R|TPO_ENST00000337415.3_Missense_Mutation_p.G835R|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	835	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGAGACGATGGGAGAACCTG	0.557000													23	56					0	0	0.000586117	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934493	113934493	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113934493C>T	ENST00000335953.4	+	2	851	c.471C>T	c.(469-471)ttC>ttT	p.F157F	ZBTB16_ENST00000392996.2_Silent_p.F157F	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	157					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAACATCTTCATCTCGAAGC	0.602000													22	37					0	0	0.000295444	0	0
ABCC8	6833	broad.mit.edu	37	11	17416776	17416776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:17416776C>A	ENST00000302539.4	-	36	4482	c.4357G>T	c.(4357-4359)Gag>Tag	p.E1453*	ABCC8_ENST00000389817.3_Nonsense_Mutation_p.E1452*	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1452	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCAGGGCCTCCCACAGTGTG	0.587000													50	81					7.47603e-22	4.79833e-21	0.000781405	1	0
PRAM1	84106	broad.mit.edu	37	19	8555575	8555575	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8555575C>T	ENST00000423345.4	-	7	2329	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G	PRAM1_ENST00000255612.3_Silent_p.G602G			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	651							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCTTGCCACCCCCGCGACGTG	0.597000													4	7					0	0	0.00024832	0	0
FERMT3	83706	broad.mit.edu	37	11	63978206	63978206	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:63978206C>T	ENST00000279227.5	+	3	379	c.284C>T	c.(283-285)cCc>cTc	p.P95L	FERMT3_ENST00000345728.5_Missense_Mutation_p.P95L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	95					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TTCTTTGGGCCCCAGCACCGG	0.647000													58	110					0	0	0.000781405	0	0
FAM221B	392307	broad.mit.edu	37	9	35825665	35825665	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:35825665T>G	ENST00000423537.2	-	2	763	c.494A>C	c.(493-495)cAa>cCa	p.Q165P	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	165										endometrium(2)|kidney(1)|lung(4)	7						TGTGTCCACTTGGACCTGGGA	0.522000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	145					0	0	0.000781405	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519815	3519815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:3519815G>A	ENST00000500728.2	-	5	843	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	233					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCAGGCCCTGGTTGATGCTG	0.662000													6	21					0	0	8.12818e-05	0	0
OR6B1	135946	broad.mit.edu	37	7	143701774	143701774	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143701774C>T	ENST00000408922.2	+	1	753	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATTATGCATGCCCACAGGAAA	0.463000													49	109					0	0	0.000781405	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183498	67183498	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67183498G>A	ENST00000449549.3	-	2	1426	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	297					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGTGCAGCGTGGCCCCGGAAA	0.697000													6	7					0	0	0.00116845	0	0
QPCTL	54814	broad.mit.edu	37	19	46201878	46201878	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:46201878C>T	ENST00000012049.5	+	4	928	c.707C>T	c.(706-708)tCc>tTc	p.S236F	QPCTL_ENST00000366382.4_Missense_Mutation_p.S142F	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	236					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCCAAGGACTCCCTTTACGGT	0.642000													18	38					0	0	0.00121646	0	0
REST	5978	broad.mit.edu	37	4	57797783	57797783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:57797783C>T	ENST00000309042.7	+	4	3073	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	920					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCATATTTCATCCTCTGGA	0.413000													14	46					0	0	0.00185496	0	0
IDO2	169355	broad.mit.edu	37	8	39862883	39862883	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39862883G>A	ENST00000502986.2	+	9	986	c.744G>A	c.(742-744)cgG>cgA	p.R248R	IDO2_ENST00000389060.4_Silent_p.R235R|IDO2_ENST00000343295.4_Intron	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	235					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGGCATCCGGATCTTTCTCT	0.398000													9	30					0	0	0.000978159	0	0
GABRG2	2566	broad.mit.edu	37	5	161569285	161569285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:161569285G>A	ENST00000356592.3	+	7	1345	c.885G>A	c.(883-885)tgG>tgA	p.W295*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.W200*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.W295*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.W335*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	295					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCTTTCTGGATCAATAAGG	0.403000													41	35					0	0	0.000437636	0	0
NOS1	4842	broad.mit.edu	37	12	117768166	117768166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:117768166C>T	ENST00000317775.6	-	2	1394	c.709G>A	c.(709-711)Gga>Aga	p.G237R	NOS1_ENST00000338101.4_Missense_Mutation_p.G237R|NOS1_ENST00000344089.3_Missense_Mutation_p.G237R	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	237	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCTGGATTCCCATATCTTTC	0.552000													36	58					0	0	0.000953801	0	0
MGAM	8972	broad.mit.edu	37	7	141752684	141752684	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:141752684C>T	ENST00000475668.2	+	26	3113	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1020F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1020					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1020F(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGACATCTCCTTAAAGTCT	0.468000													23	56					0	0	0.000375601	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218946	42218946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:42218946G>A	ENST00000221992.6	+	3	595	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CEACAM5_ENST00000398599.4_Missense_Mutation_p.D161N|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.D161N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	161	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGAGGACAAGGATGCTGTGGC	0.572000													54	134					0	0	0.000781405	0	0
FGG	2266	broad.mit.edu	37	4	155531292	155531292	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:155531292C>T	ENST00000404648.3	-	5	698	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FGG_ENST00000405164.1_Silent_p.K153K|FGG_ENST00000407946.1_Silent_p.K153K|FGG_ENST00000336098.3_Silent_p.K153K	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	153					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCTGGGCTACCTTCTCTTTCA	0.348000													10	10					0	0	0.000673444	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457046	110457046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457046G>A	ENST00000378402.5	+	38	5052	c.4948G>A	c.(4948-4950)Gaa>Aaa	p.E1650K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1650					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGTCCAATGAATTTGATAG	0.428000										HNSCC(38;0.096)			74	115					0	0	0.000781405	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686229	125686229	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:125686229G>A	ENST00000371126.1	-	1	605	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	121										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						CGTCCACCACGAAAAGCGTGT	0.637000													19	7					0	0	0.00152264	0	0
TNC	3371	broad.mit.edu	37	9	117810806	117810806	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:117810806G>A	ENST00000350763.4	-	16	4996	c.4585C>T	c.(4585-4587)Ctg>Ttg	p.L1529L	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Silent_p.L1165L|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1529	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGAAGGGGCAGGGCCTCTGAA	0.473000													7	23					0	0	0.000157383	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913095	54913095	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:54913095G>A	ENST00000474759.1	+	19	1809	c.1761G>A	c.(1759-1761)gtG>gtA	p.V587V	CACNA2D3_ENST00000415676.2_Silent_p.V587V|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.V493V|CACNA2D3_ENST00000288197.5_Silent_p.V587V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	587						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCATGGAGGTGAAGAAGACAG	0.358000													13	15					0	0	0.000308642	0	0
GPR32	2854	broad.mit.edu	37	19	51274520	51274520	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51274520C>T	ENST00000270590.4	+	1	800	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	221						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGGCCACTTCCTGCTGGGCT	0.592000													17	48					0	0	0.00074312	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444125	82444125	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:82444125G>A	ENST00000268206.7	-	18	2838	c.2670C>T	c.(2668-2670)gtC>gtT	p.V890V	EFTUD1_ENST00000359445.3_Silent_p.V839V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	890					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAACAAAACAGACACCCATGA	0.473000													10	39					0	0	0.000442599	0	0
MDFIC	29969	broad.mit.edu	37	7	114619726	114619726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:114619726C>T	ENST00000257724.3	+	4	973	c.710C>T	c.(709-711)tCt>tTt	p.S237F	MDFIC_ENST00000393486.1_Missense_Mutation_p.S128F			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	128	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCACCTGTTTCTCAAAAAATG	0.428000													22	38					0	0	0.000375601	0	0
CLVS1	157807	broad.mit.edu	37	8	62370891	62370891	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:62370891A>G	ENST00000519846.1	+	6	1239	c.767A>G	c.(766-768)aAc>aGc	p.N256S	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.N256S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	256	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACAATTTAAACAGCCTTCAC	0.383000													33	89					0	0	0.00170553	0	0
C3orf72	401089	broad.mit.edu	37	3	138668430	138668430	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:138668430C>T	ENST00000383165.3	+	2	300	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	57										large_intestine(1)|lung(3)	4						AATCGGTCTCCCCAAGATGTG	0.542000													11	36					0	0	0.000673444	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894252	63894252	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:63894252G>A	ENST00000334025.2	+	5	998	c.672G>A	c.(670-672)ttG>ttA	p.L224L		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	224					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CTTTACCATTGAAAAATCAAG	0.343000													7	79					0	0	0.000157383	0	0
CCDC129	223075	broad.mit.edu	37	7	31611731	31611731	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:31611731T>C	ENST00000319386.3	+	6	1317	c.324T>C	c.(322-324)ttT>ttC	p.F108F	CCDC129_ENST00000407970.3_Silent_p.F108F|CCDC129_ENST00000451887.2_Silent_p.F134F|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_Silent_p.F16F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	108										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGCATCAGTTTTCAGAAACTC	0.408000													8	9					0	0	0.000673444	0	0
MYH2	4620	broad.mit.edu	37	17	10428906	10428906	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10428906C>T	ENST00000245503.5	-	32	4783	c.4399G>A	c.(4399-4401)Gag>Aag	p.E1467K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1467K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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	1467					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGTTTCCTCACATTTCTGT	0.468000													11	47					0	0	0.000978159	0	0
MAP3K3	4215	broad.mit.edu	37	17	61723433	61723433	+	Splice_Site	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:61723433C>G	ENST00000361357.3	+	4	577	c.260_splice	c.e4+1	p.R87_splice	MAP3K3_ENST00000577395.1_Splice_Site_p.R56_splice|MAP3K3_ENST00000579585.1_Splice_Site_p.R87_splice|MAP3K3_ENST00000361733.3_Splice_Site_p.R56_splice|MAP3K3_ENST00000584573.1_Splice_Site_p.R87_splice	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	56	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGGAGAGGCGGTAAGTCTG	0.473000													7	32					0	0	8.12818e-05	0	0
RARRES2	5919	broad.mit.edu	37	7	150037578	150037578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150037578G>A	ENST00000466675.1	-	1	1154	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	RARRES2_ENST00000482669.1_Missense_Mutation_p.P41S|RARRES2_ENST00000223271.3_Missense_Mutation_p.P41S			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	41					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGCACGGGCGGGTGCTTGTGA	0.706000													10	12					0	0	0.000673444	0	0
DDX54	79039	broad.mit.edu	37	12	113599084	113599084	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:113599084G>A	ENST00000314045.7	-	19	2431	c.2404C>T	c.(2404-2406)Cgt>Tgt	p.R802C	DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000306014.5_Missense_Mutation_p.R802C	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	802					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTTGGCCACGGTCTCGCTTC	0.577000													32	40					0	0	0.00058488	0	0
DPH2	1802	broad.mit.edu	37	1	44436297	44436297	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:44436297G>T	ENST00000255108.3	+	2	349	c.177G>T	c.(175-177)ttG>ttT	p.L59F	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.L59F|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	59					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACCAGCTATTGGGAGATGCTG	0.527000													10	298					0.00010058	0.000636922	0.00136819	1	0
TOMM22	56993	broad.mit.edu	37	22	39078936	39078936	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:39078936C>T	ENST00000216034.4	+	3	320	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	97	TMD; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GATCCTGGTTCTTCCCGTTGT	0.527000													30	126					0	0	0.00178596	0	0
POM121L12	285877	broad.mit.edu	37	7	53103569	53103569	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:53103569G>A	ENST00000408890.4	+	1	221	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	69										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTCCAGTGGGGGCGCCCGGT	0.706000													15	39					0	0	0.00074312	0	0
OR52J3	119679	broad.mit.edu	37	11	5068545	5068545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5068545C>T	ENST00000380370.1	+	1	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264*(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTACTCATCGATTTGGACA	0.438000													12	19					0	0	0.000978159	0	0
TENM2	57451	broad.mit.edu	37	5	167489169	167489169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:167489169C>T	ENST00000519204.1	+	6	1169	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	TENM2_ENST00000545108.1_Missense_Mutation_p.H472Y|TENM2_ENST00000403607.2_Missense_Mutation_p.H305Y|TENM2_ENST00000518659.1_Missense_Mutation_p.H472Y|TENM2_ENST00000520394.1_Missense_Mutation_p.H240Y					teneurin transmembrane protein 2																		GTCACAAATTCACATCAGTCA	0.493000													7	24					0	0	8.12818e-05	0	0
COL5A1	1289	broad.mit.edu	37	9	137716449	137716449	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:137716449C>T	ENST00000371817.3	+	62	5116	c.4702C>T	c.(4702-4704)Ccc>Tcc	p.P1568S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1568	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCAGGGCCCCCCGGGAGA	0.657000													11	21					0	0	0.000978159	0	0
KRT10	3858	broad.mit.edu	37	17	38978582	38978582	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:38978582G>A	ENST00000269576.5	-	1	265	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	86	Gly-rich.|Head.			R -> H (in Ref. 2; CAA32649).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAGCTTCCACGAAAGCTACCT	0.572000													39	142					0	0	0.000509022	0	0
TTN	7273	broad.mit.edu	37	2	179425768	179425768	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179425768C>T	ENST00000589042.1	-	326	85315	c.85091G>A	c.(85090-85092)cGa>cAa	p.R28364Q	TTN_ENST00000342992.6_Missense_Mutation_p.R25796Q|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19299Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19424Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26723Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19491Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26723	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAACGTCTCGGAACTTGAC	0.448000													25	73					0	0	0.00127121	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:47535945C>T	ENST00000602212.1	+	5	697	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_ENST00000449844.2_Silent_p.F159F|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	66					0	0	0.000375601	0	0
GCOM1	145781	broad.mit.edu	37	15	57929917	57929917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:57929917C>T	ENST00000574161.1	+	9	1077	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	MYZAP_ENST00000380565.4_Missense_Mutation_p.L320F|GCOM1_ENST00000587652.1_Missense_Mutation_p.L320F|GCOM1_ENST00000380560.2_Missense_Mutation_p.L251F|GCOM1_ENST00000380569.2_Missense_Mutation_p.L320F|GCOM1_ENST00000380561.2_Missense_Mutation_p.L289F|GCOM1_ENST00000396180.1_Missense_Mutation_p.L289F|GCOM1_ENST00000380568.3_Missense_Mutation_p.L320F|GCOM1_ENST00000572390.1_Missense_Mutation_p.L320F|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.L320F	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		320					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCAACTTCAACTCCTAGAACA	0.373000													4	17					0	0	0.00116845	0	0
OR14C36	127066	broad.mit.edu	37	1	248512884	248512884	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248512884C>G	ENST00000317861.1	+	1	808	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L270M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CACCCAGGATCTGATCCTTTC	0.453000													7	38					0	0	8.12818e-05	0	0
DDC	1644	broad.mit.edu	37	7	50605614	50605614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:50605614C>T	ENST00000444124.2	-	4	579	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	DDC_ENST00000357936.5_Missense_Mutation_p.E127K|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Missense_Mutation_p.E127K|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.E127K	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	127	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.E127*(2)|p.E127S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTTGGTAGTTCCAGCATCTTC	0.567000													11	66					0	0	0.000673444	0	0
NUP98	4928	broad.mit.edu	37	11	3797179	3797179	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:3797179G>A	ENST00000324932.7	-	5	848	c.428C>T	c.(427-429)aCa>aTa	p.T143I	NUP98_ENST00000359171.4_Missense_Mutation_p.T143I|NUP98_ENST00000355260.3_Missense_Mutation_p.T143I|NUP98_ENST00000397007.4_Missense_Mutation_p.T143I|NUP98_ENST00000397004.4_Missense_Mutation_p.T143I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	143	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGCCAGATGTGCTGCCAAA	0.393000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								71	109					0	0	0.000781405	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973222	116973222	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:116973222G>A	ENST00000368576.3	-	6	1338	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_3'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	365						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GTAGCATTTGGAAATTTCTGT	0.383000													23	77					0	0	0.000720815	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843440	131843440	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:131843440C>T	ENST00000372546.4	+	1	62	c.30C>T	c.(28-30)ccC>ccT	p.P10P	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Silent_p.P10P	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	10					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GCTCGCTCCCCGCTTCATGGC	0.662000													18	67					0	0	0.00188189	0	0
SCUBE2	57758	broad.mit.edu	37	11	9055230	9055230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:9055230G>A	ENST00000457346.2	-	17	2190	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	SCUBE2_ENST00000520467.1_Intron|SCUBE2_ENST00000309263.3_Missense_Mutation_p.P677S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.P551S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	677						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GAATTTCCTGGTCTTGGGCAT	0.473000													27	131					0	0	0.000878237	0	0
PRMT2	3275	broad.mit.edu	37	21	48068404	48068404	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:48068404G>T	ENST00000397637.1	+	5	1316	c.362G>T	c.(361-363)cGa>cTa	p.R121L	PRMT2_ENST00000355680.3_Missense_Mutation_p.R121L|PRMT2_ENST00000397638.2_Missense_Mutation_p.R121L|PRMT2_ENST00000458387.2_Missense_Mutation_p.R121L|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000291705.6_Missense_Mutation_p.R121L|PRMT2_ENST00000451211.2_Missense_Mutation_p.R121L|PRMT2_ENST00000334494.4_Missense_Mutation_p.R121L|PRMT2_ENST00000440086.1_Missense_Mutation_p.R121L|PRMT2_ENST00000397628.1_Missense_Mutation_p.R121L			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	121	Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GACCAGCCACGAACAACTAAA	0.493000													25	54					8.24728e-16	5.2844e-15	0.000720815	1	0
CROT	54677	broad.mit.edu	37	7	87021007	87021007	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:87021007C>T	ENST00000331536.3	+	14	1589	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CROT_ENST00000419147.2_Silent_p.S496S|CROT_ENST00000442291.1_Silent_p.S468S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	468					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGTGCCAGTCCATGCAGGATC	0.408000													5	11					0	0	8.12818e-05	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39888156	39888156	+	Silent	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:39888156C>G	ENST00000456183.2	+	4	1172	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		ACCCAAAACCCTTCTGGAACA	0.458000													67	65					0	0	0.000781405	0	0
FOCAD	54914	broad.mit.edu	37	9	20990168	20990168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:20990168G>A	ENST00000380249.1	+	44	5415	c.5051G>A	c.(5050-5052)tGg>tAg	p.W1684*	FOCAD_ENST00000338382.6_Nonsense_Mutation_p.W1684*|FOCAD_ENST00000605086.1_Nonsense_Mutation_p.W1120*	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1684						integral to membrane	binding										GTGGTTGCATGGGCTGACCAC	0.498000													15	47					0	0	0.00121646	0	0
KALRN	8997	broad.mit.edu	37	3	124376296	124376296	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:124376296G>A	ENST00000360013.3	+	40	5988	c.5859_splice	c.e40-1	p.G1954_splice	KALRN_ENST00000459915.1_Splice_Site_p.G46_splice|KALRN_ENST00000393496.1_Splice_Site_p.G295_splice|KALRN_ENST00000428018.2_Splice_Site_p.G225_splice|KALRN_ENST00000291478.4_Splice_Site_p.G257_splice	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1953	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCTGCAGGGCTTCATGAAG	0.468000													7	24					0	0	0.000274275	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29323094C>T	ENST00000377154.1	-	4	1178	c.879G>A	c.(877-879)agG>agA	p.R293R	OR5V1_ENST00000543825.1_Silent_p.R293R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000													8	51					0	0	0.000274275	0	0
PLCL2	23228	broad.mit.edu	37	3	17051494	17051494	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:17051494C>T	ENST00000418129.2	+	2	743	c.278C>T	c.(277-279)tCc>tTc	p.S93F	PLCL2_ENST00000432376.1_Missense_Mutation_p.S93F|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.S93F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	219					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTGCGTTTTCCGTCATATAT	0.408000													8	64					0	0	0.000274275	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53854516C>T	ENST00000458035.1	+	4	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_ENST00000595091.1_Silent_p.F196F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000													34	91					0	0	0.000339439	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813372	106813372	+	Silent	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:106813372G>C	ENST00000407775.2	+	8	1312	c.1062G>C	c.(1060-1062)ctG>ctC	p.L354L	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L222L|ZFPM2_ENST00000520492.1_Silent_p.L222L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.L85L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	354					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCAACACCTGTTCTCCCATC	0.498000													35	72					0	0	0.000814825	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509061	42509061	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:42509061C>T	ENST00000381668.5	-	23	2289	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	ATP8A1_ENST00000264449.10_Silent_p.G671G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	686					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTTGCTTGTCCCCTGTAAGGA	0.373000													45	80					0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238274599	238274599	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:238274599G>A	ENST00000295550.4	-	12	6032	c.5580C>T	c.(5578-5580)tcC>tcT	p.S1860S	COL6A3_ENST00000347401.3_Silent_p.S1659S|COL6A3_ENST00000409809.1_Silent_p.S1654S|COL6A3_ENST00000346358.4_Silent_p.S1660S|COL6A3_ENST00000353578.4_Silent_p.S1654S|COL6A3_ENST00000472056.1_Silent_p.S1253S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1860	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		CGTCCACCTTGGACTCGAAGC	0.552000													54	91					0	0	0.000781405	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178193	39178193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:39178193C>T	ENST00000297668.6	-	5	776	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.E235K|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.E235K|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.E235K|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.E147K|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	235	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTAATTAATTCCAGAGTAATG	0.294000													33	53					0	0	0.000680045	0	0
ILDR1	286676	broad.mit.edu	37	3	121712700	121712700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:121712700G>A	ENST00000273691.3	-	6	869	c.764C>T	c.(763-765)gCc>gTc	p.A255V	ILDR1_ENST00000462014.1_Missense_Mutation_p.A267V|ILDR1_ENST00000393631.1_Missense_Mutation_p.A210V|ILDR1_ENST00000344209.5_Missense_Mutation_p.A299V|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	299						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAGAGGCTGGGCCAGGTTGAG	0.587000													11	47					0	0	0.000978159	0	0
CLCN2	1181	broad.mit.edu	37	3	184073266	184073266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:184073266G>A	ENST00000265593.4	-	12	1393	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582000													9	60					0	0	0.000673444	0	0
PGBD5	79605	broad.mit.edu	37	1	230468618	230468618	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:230468618C>T	ENST00000321327.2	-	7	1334	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Silent_p.L346L|PGBD5_ENST00000391860.1_Silent_p.L300L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	346						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCGTTGGTCAGGAAGCGGA	0.632000													17	66					0	0	0.000958276	0	0
HEATR5A	25938	broad.mit.edu	37	14	31828259	31828259	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:31828259G>A	ENST00000543095.2	-	15	2260	c.2076C>T	c.(2074-2076)aaC>aaT	p.N692N	HEATR5A_ENST00000389961.3_Silent_p.N686N|HEATR5A_ENST00000404677.3_Silent_p.N692N|HEATR5A_ENST00000439727.1_Silent_p.N399N|HEATR5A_ENST00000439348.1_Silent_p.N686N	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	686							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGCACAGAGGTTTCCTGTTG	0.448000													11	44					0	0	0.000978159	0	0
EML5	161436	broad.mit.edu	37	14	89154729	89154729	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:89154729C>T	ENST00000554922.1	-	18	2876	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	EML5_ENST00000380664.5_Silent_p.E876E|EML5_ENST00000352093.5_Intron	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	876						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAAAGCCATCTCTTCAGTCC	0.443000													83	150					0	0	0.000781405	0	0
ZFHX3	463	broad.mit.edu	37	16	72822544	72822544	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:72822544G>T	ENST00000268489.5	-	10	10303	c.9631C>A	c.(9631-9633)Ccc>Acc	p.P3211T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2297T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3211	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGGCGGGGGAGgctgctgc	0.642000													61	134					2.22609e-26	1.42998e-25	0.000781405	1	0
WWC1	23286	broad.mit.edu	37	5	167891913	167891913	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:167891913G>C	ENST00000265293.4	+	21	3598	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.Q1038H	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1032	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCTGCCACAGTGGTTGCGTG	0.622000													13	56					0	0	0.000219431	0	0
PRKCH	5583	broad.mit.edu	37	14	61924337	61924337	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:61924337C>T	ENST00000332981.5	+	9	1603	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PRKCH_ENST00000555082.1_Silent_p.I245I	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	406	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGAAAAGGATCCTGTCTCTGG	0.488000													72	99					0	0	0.000781405	0	0
HAO2	51179	broad.mit.edu	37	1	119927541	119927541	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:119927541C>T	ENST00000361035.4	+	5	748	c.465C>T	c.(463-465)atC>atT	p.I155I	HAO2_ENST00000325945.3_Silent_p.I142I	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	142	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AACAGTTGATCCAGAGGGTAG	0.483000													13	17					0	0	0.000308642	0	0
AGGF1	55109	broad.mit.edu	37	5	76332495	76332495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:76332495G>A	ENST00000312916.7	+	4	1013	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	211					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388000													10	509					0	0	0.00185496	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408432	2408432	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:2408432C>T	ENST00000332578.3	+	7	819	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	273	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCGGGCCCAGGTGGTCC	0.667000													30	64					0	0	0.000409698	0	0
TTN	7273	broad.mit.edu	37	2	179614008	179614008	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179614008G>A	ENST00000360870.5	-	46	13341	c.13119C>T	c.(13117-13119)caC>caT	p.H4373H	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	507	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTGCTTGGTGCAGCTTTG	0.363000													4	11					0	0	0.00024832	0	0
OR52N1	79473	broad.mit.edu	37	11	5809545	5809545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5809545G>A	ENST00000317078.1	-	1	501	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGTATGGAAGGCGCTTGGTG	0.488000													4	18					0	0	0.000602214	0	0
CHD3	1107	broad.mit.edu	37	17	7806313	7806313	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7806313C>T	ENST00000380358.4	+	22	3607	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	CHD3_ENST00000358181.4_Silent_p.I1143I|CHD3_ENST00000330494.7_Silent_p.I1143I	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1143	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCTGGGCATCAATCTGGCCA	0.542000													13	44					0	0	0.00185496	0	0
FBN3	84467	broad.mit.edu	37	19	8173110	8173110	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8173110G>A	ENST00000600128.1	-	37	5045	c.4631C>T	c.(4630-4632)aCc>aTc	p.T1544I	FBN3_ENST00000270509.2_Missense_Mutation_p.T1544I|FBN3_ENST00000601739.1_Missense_Mutation_p.T1544I			Q75N90	FBN3_HUMAN	fibrillin 3	1544	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGGCACAGGGTTCTGTACTC	0.552000													27	80					0	0	0.00058488	0	0
FAM194A	131831	broad.mit.edu	37	3	150421441	150421441	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:150421441G>A	ENST00000295910.6	-	1	297	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	82										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCGATGTCCGTGACCTTCCA	0.627000													23	29					0	0	0.000375601	0	0
PPIL1	51645	broad.mit.edu	37	6	36823754	36823754	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36823754G>A	ENST00000373699.5	-	4	587	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	112	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GGGTCACAAAGAACTGGCTGC	0.532000													20	27					0	0	0.000375601	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175670	143175670	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143175670C>T	ENST00000408916.1	+	1	705	c.705C>T	c.(703-705)tcC>tcT	p.S235S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCTGAAGTCCCTCATCTCCT	0.498000													31	65					0	0	0.000409698	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54735196G>A	ENST00000306858.7	+	2	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	51										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000													9	32					0	0	0.000442599	0	0
CNTN4	152330	broad.mit.edu	37	3	2908472	2908472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:2908472C>T	ENST00000397461.1	+	7	875	c.491C>T	c.(490-492)tCc>tTc	p.S164F	CNTN4_ENST00000427331.1_Missense_Mutation_p.S164F|CNTN4_ENST00000418658.1_Missense_Mutation_p.S164F|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S164Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATACCCTTCCTATCAGGAT	0.383000													14	39					0	0	0.000295444	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													21	271					0	0	0.00127121	0	0
KCNH1	3756	broad.mit.edu	37	1	211192238	211192238	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:211192238C>T	ENST00000367007.4	-	6	1088	c.919G>A	c.(919-921)Gat>Aat	p.D307N	KCNH1_ENST00000271751.4_Missense_Mutation_p.D307N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	307					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTGATGACATCATATGGCAAA	0.483000													25	26					0	0	0.000878237	0	0
NGF	4803	broad.mit.edu	37	1	115829228	115829228	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115829228C>T	ENST00000369512.2	-	3	357	c.189G>A	c.(187-189)gtG>gtA	p.V63V	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	63					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.V63V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGCCCCGCCACGCGTGCAG	0.627000													8	28					0	0	0.000157383	0	0
LONRF2	164832	broad.mit.edu	37	2	100925618	100925618	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:100925618G>A	ENST00000393437.3	-	2	1388	c.749C>T	c.(748-750)gCt>gTt	p.A250V	LONRF2_ENST00000409647.1_Missense_Mutation_p.A7V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	250					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATCTTGGAGAGCTTGCTCATA	0.373000													27	58					0	0	0.000878237	0	0
PIWIL1	9271	broad.mit.edu	37	12	130840172	130840172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:130840172G>A	ENST00000245255.3	+	12	1636	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	455					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCTCAGGAAGAATTTTGCAA	0.413000													31	146					0	0	0.001512	0	0
FAT4	79633	broad.mit.edu	37	4	126372516	126372516	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126372516G>A	ENST00000394329.3	+	9	10358	c.10345G>A	c.(10345-10347)Gaa>Aaa	p.E3449K	FAT4_ENST00000335110.5_Missense_Mutation_p.E1747K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3449	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCAGGGAATGAAAATGGTGC	0.463000													8	58					0	0	0.000157383	0	0
C9orf152	401546	broad.mit.edu	37	9	112963360	112963360	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:112963360G>A	ENST00000400613.4	-	2	1197	c.588C>T	c.(586-588)ttC>ttT	p.F196F	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	196										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGAGTGCTGAATTTTAAGC	0.502000													25	58					0	0	0.000720815	0	0
ADH1B	125	broad.mit.edu	37	4	100232022	100232022	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:100232022C>T	ENST00000305046.8	-	8	1070	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ADH1B_ENST00000394887.3_Missense_Mutation_p.D295N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	335					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCCATAAAATCAGCCACAAGT	0.368000													10	64					0	0	0.000978159	0	0
DSE	29940	broad.mit.edu	37	6	116756873	116756873	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:116756873C>T	ENST00000331677.3	+	7	1686	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	DSE_ENST00000359564.2_Silent_p.F414F|DSE_ENST00000537543.1_Silent_p.F433F|DSE_ENST00000452085.3_Silent_p.F414F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	414					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.S416fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATAGATCTTTCCTTTCCTTCA	0.418000													7	20					0	0	0.000157383	0	0
OR5T1	390155	broad.mit.edu	37	11	56043953	56043953	+	Missense_Mutation	SNP	C	C	T	rs149057096	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:56043953C>T	ENST00000313033.2	+	1	925	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S280L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCTACACTTCGGACAATGAC	0.408000													27	51					0	0	0.000878237	0	0
CETP	1071	broad.mit.edu	37	16	57005272	57005272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57005272G>A	ENST00000200676.3	+	7	767	c.637G>A	c.(637-639)Gat>Aat	p.D213N	CETP_ENST00000379780.2_Missense_Mutation_p.D213N|CETP_ENST00000566128.1_Missense_Mutation_p.D148N|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	213					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CATCATGGCCGATTTTGTCCA	0.552000													90	196					0	0	0.000781405	0	0
KAT2A	2648	broad.mit.edu	37	17	40271297	40271297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:40271297C>T	ENST00000225916.5	-	6	1092	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	347					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTCCTCTTCTCGGGCACCAAT	0.547000													24	97					0	0	0.000878237	0	0
TBX5	6910	broad.mit.edu	37	12	114841557	114841557	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:114841557C>T	ENST00000310346.4	-	2	813	c.147_splice	c.e2+1	p.Q49_splice	TBX5_ENST00000405440.2_Splice_Site_p.Q49_splice|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Splice_Site_p.Q49_splice|TBX5_ENST00000349716.5_Intron	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	49			Q -> K (in HOS).	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTCTCCTTACCTGCTGGGTGA	0.602000													54	63					0	0	0.000781405	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638487	48638487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48638487C>T	ENST00000203407.5	-	8	1303	c.887G>A	c.(886-888)tGg>tAg	p.W296*		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	296					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CGGGCTGGCCCAGCCAGGACC	0.582000													6	27					0	0	0.00116845	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310397	61310397	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:61310397G>A	ENST00000341074.5	-	3	335	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.H74Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGACTCACATGATATGTTGCA	0.408000													4	0					0	0	0.00116845	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860698	65860698	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:65860698C>T	ENST00000395325.3	+	13	2007	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.P604L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P674L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	617	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACAAGAAGTCCTTCGCCCACA	0.423000													14	99					0	0	0.000422831	0	0
OR4C13	283092	broad.mit.edu	37	11	49974506	49974506	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:49974506G>A	ENST00000555099.1	+	1	564	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTTATGTGTGATCTCTACAC	0.423000													25	58					0	0	0.00127121	0	0
ATP2B2	491	broad.mit.edu	37	3	10442635	10442635	+	Splice_Site	SNP	A	A	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10442635A>C	ENST00000397077.1	-	7	1357		c.e7+1		ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000352432.4_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTGAAGCTCACCTGACAGCA	0.557000													21	34					0	0	0.00127121	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764903	92764903	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:92764903C>G	ENST00000318238.4	-	5	1598	c.382G>C	c.(382-384)Gat>Cat	p.D128H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D128H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D128H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	128										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTTTGATATCTCTGATCTCT	0.323000													12	19					0	0	0.000978159	0	0
SLIT3	6586	broad.mit.edu	37	5	168189612	168189612	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:168189612C>T	ENST00000519560.1	-	15	1961	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	SLIT3_ENST00000404867.3_Silent_p.T514T|SLIT3_ENST00000332966.8_Silent_p.T514T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	514	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCACAATCGTGCCCTCAC	0.597000													31	104					0	0	0.000409698	0	0
MUTYH	4595	broad.mit.edu	37	1	45796895	45796895	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:45796895C>T	ENST00000450313.1	-	14	1650	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	MUTYH_ENST00000372104.1_Missense_Mutation_p.E451K|MUTYH_ENST00000372098.3_Missense_Mutation_p.E476K|MUTYH_ENST00000488731.2_Missense_Mutation_p.E146K|MUTYH_ENST00000372115.3_Missense_Mutation_p.E465K|MUTYH_ENST00000528332.2_Missense_Mutation_p.E160K|MUTYH_ENST00000354383.6_Missense_Mutation_p.E452K|MUTYH_ENST00000456914.2_Missense_Mutation_p.E451K|MUTYH_ENST00000355498.2_Missense_Mutation_p.E451K|MUTYH_ENST00000372100.5_Missense_Mutation_p.E462K|MUTYH_ENST00000448481.1_Missense_Mutation_p.E462K|MUTYH_ENST00000372110.3_Missense_Mutation_p.E466K|MUTYH_ENST00000529984.1_Missense_Mutation_p.E146K|MUTYH_ENST00000531105.1_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	476	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGAAATTCCTCCTGCGTCAGC	0.498000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				46	70					0	0	0.000781405	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172875	67172875	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:67172875G>A	ENST00000312390.5	+	4	287	c.258G>A	c.(256-258)aaG>aaA	p.K86K	TBC1D10C_ENST00000526387.1_Silent_p.K86K|TBC1D10C_ENST00000542590.1_Silent_p.K86K	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	86						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACAGGTAAAGATGCAGTGCC	0.647000													6	26					0	0	0.000157383	0	0
ASIC3	9311	broad.mit.edu	37	7	150746353	150746353	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150746353C>T	ENST00000357922.4	+	1	975	c.381C>T	c.(379-381)cgC>cgT	p.R127R	ASIC3_ENST00000297512.8_Silent_p.R127R|ASIC3_ENST00000349064.5_Silent_p.R127R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	127					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTTCCTGCGCGCCCTGGGCC	0.697000													20	38					0	0	0.00121646	0	0
FAM153B	202134	broad.mit.edu	37	5	175530253	175530253	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:175530253G>A	ENST00000253490.4	+	13	745	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.E153K|FAM153B_ENST00000510151.1_Missense_Mutation_p.E153K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	230										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTACTTCAGGAGCTGTCCAG	0.488000													60	269					0	0	0.000781405	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591542	46591542	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:46591542G>A	ENST00000398637.5	-	16	2017	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SLC38A1_ENST00000439706.1_Silent_p.I441I|SLC38A1_ENST00000549049.1_Silent_p.I441I|SLC38A1_ENST00000546893.1_Silent_p.I441I|SLC38A1_ENST00000552197.1_Silent_p.I441I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	441					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCTGGTCTGTGATTTTTAAAT	0.318000													18	73					0	0	0.00188189	0	0
GPC5	2262	broad.mit.edu	37	13	92797119	92797119	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:92797119G>A	ENST00000377067.3	+	7	1810	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	480						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGACAAGTGGGAACTTCTTCA	0.428000													8	28					0	0	0.000157383	0	0
KMT2D	8085	broad.mit.edu	37	12	49435116	49435116	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49435116G>A	ENST00000301067.7	-	31	6436	c.6437C>T	c.(6436-6438)cCg>cTg	p.P2146L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGAGCCCGCCGGCGGCTTCAG	0.697000													7	4					0	0	0.000157383	0	0
PLCB4	5332	broad.mit.edu	37	20	9424641	9424641	+	Silent	SNP	C	C	T	rs144853204		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:9424641C>T	ENST00000378501.2	+	27	2757	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	PLCB4_ENST00000378493.1_Silent_p.I914I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.I914I|PLCB4_ENST00000278655.4_Silent_p.I914I|PLCB4_ENST00000378473.3_Silent_p.I926I|PLCB4_ENST00000414679.2_Silent_p.I926I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	914					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAACTTATCCCTCAAGTAA	0.303000													6	46					0	0	8.12818e-05	0	0
TRPV5	56302	broad.mit.edu	37	7	142606687	142606687	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142606687C>T	ENST00000265310.1	-	14	2212	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	622					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGCCCGAATTCGCACCCACAG	0.612000													30	51					0	0	0.00058488	0	0
OR2B3	442184	broad.mit.edu	37	6	29054407	29054407	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29054407G>A	ENST00000377173.2	-	1	683	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGAATTAGAAGAATTAGTACA	0.433000													23	32					0	0	0.000295444	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54930765	54930765	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:54930765C>T	ENST00000293373.6	+	29	3190	c.3111C>T	c.(3109-3111)atC>atT	p.I1037I	NCKAP1L_ENST00000545638.2_Silent_p.I987I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1037					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAAAGCCATCATCCAGGTGT	0.413000													13	38					0	0	0.000958276	0	0
CCBE1	147372	broad.mit.edu	37	18	57105378	57105378	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:57105378C>T	ENST00000439986.4	-	10	989	c.951_splice	c.e10-1	p.G318_splice	CCBE1_ENST00000398179.2_Splice_Site_p.G47_splice	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	318	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCTCTCTCCCCCTAAAAACAG	0.517000													9	15					0	0	0.000274275	0	0
ZNF831	128611	broad.mit.edu	37	20	57767265	57767265	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:57767265G>A	ENST00000371030.2	+	1	1191	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	397						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCCGGCCTGGAGCTGGAGA	0.736000													4	8					0	0	0.00024832	0	0
RGS22	26166	broad.mit.edu	37	8	101092404	101092404	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:101092404G>A	ENST00000360863.6	-	4	491	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RGS22_ENST00000523437.1_Silent_p.A99A|RGS22_ENST00000523287.1_Silent_p.A3A	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	99					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCATCGGGGGCATTCATTT	0.323000													38	100					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179602902	179602902	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179602902G>A	ENST00000589042.1	-	49	14502	c.14278C>T	c.(14278-14280)Ctg>Ttg	p.L4760L	TTN_ENST00000342992.6_Silent_p.L3516L|TTN_ENST00000460472.2_Silent_p.L4397L|TTN_ENST00000359218.5_Silent_p.L4522L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Silent_p.L4443L|TTN_ENST00000342175.6_Silent_p.L4589L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4443	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTTCTCAGGATTTCAAGG	0.458000													5	12					0	0	0.000602214	0	0
TMC5	79838	broad.mit.edu	37	16	19474639	19474639	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:19474639C>T	ENST00000396229.2	+	7	1935	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	TMC5_ENST00000564959.1_Missense_Mutation_p.R79C|TMC5_ENST00000561503.1_Missense_Mutation_p.R37C|TMC5_ENST00000542583.2_Missense_Mutation_p.R396C|TMC5_ENST00000541464.1_Missense_Mutation_p.R396C|TMC5_ENST00000381414.4_Missense_Mutation_p.R396C|TMC5_ENST00000219821.5_Missense_Mutation_p.R150C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	396						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGACCCATCGTATCCTTCA	0.408000													26	63					0	0	0.000878237	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669416	48669416	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48669416C>T	ENST00000358747.6	-	5	834	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R216Q|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R216Q|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R216Q|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Silent_p.P181P	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGTATAGCCTCGGACAAGAGG	0.612000													14	63					0	0	0.000308642	0	0
AMN1	196394	broad.mit.edu	37	12	31842014	31842014	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:31842014C>T	ENST00000281471.6	-	6	795	c.630G>A	c.(628-630)ggG>ggA	p.G210G	AMN1_ENST00000536761.1_Silent_p.G192G|AMN1_ENST00000541931.1_Silent_p.G10G|AMN1_ENST00000542781.1_Silent_p.G10G|AMN1_ENST00000537562.1_Silent_p.G192G	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	210										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CTTCGACAGCCCCATCAGTCA	0.363000													8	22					0	0	0.000157383	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68702856	68702856	+	Silent	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68702856C>A	ENST00000255078.3	+	12	1833	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	574					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAAGGAGGCCGTGATACTGT	0.532000													20	43					1.22574e-08	7.80109e-08	0.000295444	1	0
EBF2	64641	broad.mit.edu	37	8	25708156	25708156	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:25708156G>A	ENST00000520164.1	-	15	2187	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Silent_p.G402G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	550					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTGAAGGGGAGCCTTGGGGCC	0.507000													14	52					0	0	0.000566183	0	0
SEC14L2	23541	broad.mit.edu	37	22	30806637	30806637	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:30806637G>A	ENST00000312932.9	+	8	893	c.633G>A	c.(631-633)gaG>gaA	p.E211E	RP4-539M6.19_ENST00000439838.1_Silent_p.E45E|SEC14L2_ENST00000405717.3_Silent_p.E211E|SEC14L2_ENST00000403484.1_Silent_p.E137E|SEC14L2_ENST00000402592.3_Silent_p.E128E	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	211	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCCTGAGTGAGGACACTCGTA	0.527000													23	65					0	0	0.00106085	0	0
C3	718	broad.mit.edu	37	19	6684808	6684808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6684808C>T	ENST00000245907.6	-	31	4099	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1336					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGGCCTTTTCCTTCAGCTGT	0.537000													50	123					0	0	0.000781405	0	0
PRDM9	56979	broad.mit.edu	37	5	23522894	23522894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:23522894G>A	ENST00000296682.3	+	8	964	c.782G>A	c.(781-783)tGg>tAg	p.W261*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	261	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTGGAGTATGGAATGAGGCA	0.582000										HNSCC(3;0.000094)			5	28					0	0	0.000602214	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048297	55048297	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55048297C>T	ENST00000335056.3	+	5	902	c.864C>T	c.(862-864)gtC>gtT	p.V288V	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAACGCCAGTCCCTGGCGGGA	0.572000													31	71					0	0	0.00178596	0	0
ANO3	63982	broad.mit.edu	37	11	26656579	26656579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:26656579A>T	ENST00000256737.3	+	20	2857	c.2005A>T	c.(2005-2007)Aaa>Taa	p.K669*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.K523*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.K653*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.K653*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	669						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCACCCAGGAAAATACAATAA	0.448000													6	35					0	0	0.000274275	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872850	51872850	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:51872850C>T	ENST00000371497.5	+	2	3740	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.F948F|TSHZ2_ENST00000603338.2_Silent_p.F948F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	951					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCTGGGTTTCCAAATGAAGG	0.507000													25	41					0	0	0.000878237	0	0
DNASE2	1777	broad.mit.edu	37	19	12991836	12991836	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:12991836C>G	ENST00000222219.3	-	2	309	c.217G>C	c.(217-219)Ggg>Cgg	p.G73R	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G73R	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	73					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCCACGGCCCCCTCCGGGCTG	0.697000													11	36					0	0	0.000673444	0	0
MYO1F	4542	broad.mit.edu	37	19	8620618	8620618	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8620618C>T	ENST00000338257.8	-	2	333	c.66G>A	c.(64-66)atG>atA	p.M22I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	22	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAAGAAGCACCATGTCATCCA	0.637000													19	54					0	0	0.00188189	0	0
FILIP1	27145	broad.mit.edu	37	6	76124461	76124461	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:76124461G>A	ENST00000393004.2	-	2	449	c.228C>T	c.(226-228)tcC>tcT	p.S76S	FILIP1_ENST00000237172.7_Silent_p.S76S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	76				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTCTTCTTTGGATAACTCCA	0.408000													13	66					0	0	0.000308642	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319276	67319276	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67319276C>T	ENST00000360461.5	+	13	4814	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P679L|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P760L|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P760L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	760	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AACTATTTCCCCGAGCTGGAT	0.617000													51	110					0	0	0.000781405	0	0
PIGR	5284	broad.mit.edu	37	1	207103753	207103753	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:207103753G>A	ENST00000356495.4	-	11	2388	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	735						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCTCCTTGGATGACTAAG	0.617000													5	52					0	0	0.00116845	0	0
ADAM18	8749	broad.mit.edu	37	8	39467040	39467040	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39467040C>T	ENST00000265707.5	+	5	349	c.304C>T	c.(304-306)Cca>Tca	p.P102S	ADAM18_ENST00000520772.1_Missense_Mutation_p.P102S|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P102S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	102					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			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)			TGCCGAATTTCCAAATTCATT	0.318000													6	16					0	0	8.12818e-05	0	0
R3HDM1	23518	broad.mit.edu	37	2	136433015	136433015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:136433015C>T	ENST00000264160.4	+	19	2531	c.2161C>T	c.(2161-2163)Caa>Taa	p.Q721*	R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.Q722*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.Q593*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.Q666*|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.Q592*	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	721							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAATCAGATTCAAGGAGTGGT	0.433000													20	40					0	0	0.000295444	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:125261995C>T	ENST00000431078.1	+	8	1550	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTCCAGTTTCGAACATGGAA	0.552000													15	25					0	0	0.000422831	0	0
PTPRT	11122	broad.mit.edu	37	20	40790158	40790158	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:40790158G>A	ENST00000373198.3	-	18	2817	c.2582C>T	c.(2581-2583)tCc>tTc	p.S861F	PTPRT_ENST00000356100.2_Missense_Mutation_p.S848F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S829F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S842F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S829F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S838F|PTPRT_ENST00000373187.1_Missense_Mutation_p.S839F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	839					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGCTGGGAAAGCTCCCC	0.597000													16	50					0	0	0.00152264	0	0
TPTE2	93492	broad.mit.edu	37	13	20039430	20039430	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:20039430C>T	ENST00000400230.2	-	9	685	c.641G>A	c.(640-642)aGg>aAg	p.R214K	TPTE2_ENST00000382977.4_Missense_Mutation_p.R214K|TPTE2_ENST00000382975.4_Missense_Mutation_p.R174K|TPTE2_ENST00000255310.6_Missense_Mutation_p.R137K|TPTE2_ENST00000457266.2_Missense_Mutation_p.R103K|TPTE2_ENST00000400103.2_Missense_Mutation_p.R103K|TPTE2_ENST00000390680.2_Missense_Mutation_p.R137K|TPTE2_ENST00000382978.1_Missense_Mutation_p.R174K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	214	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R214M(1)|p.R137M(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAATCCATCCCTTGTGTATCG	0.294000													34	149					0	0	0.00170553	0	0
C1S	716	broad.mit.edu	37	12	7177568	7177568	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7177568G>A	ENST00000406697.1	+	15	2308	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	C1S_ENST00000328916.3_Missense_Mutation_p.M560I|C1S_ENST00000402681.3_Missense_Mutation_p.M393I|C1S_ENST00000360817.5_Missense_Mutation_p.M560I			P09871	C1S_HUMAN	complement component 1, s subcomponent	560	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ACAACCTCATGGATGGGGACC	0.547000													6	28					0	0	0.00116845	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699183	60699183	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:60699183C>T	ENST00000005286.4	+	6	1195	c.1042C>T	c.(1042-1044)Cta>Tta	p.L348L	TMEM132A_ENST00000453848.2_Silent_p.L347L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	347						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTCTGAGTTCCTATGGGTGGA	0.587000													28	90					0	0	0.00178596	0	0
TNN	63923	broad.mit.edu	37	1	175105030	175105030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:175105030G>A	ENST00000239462.4	+	16	3493	c.3380G>A	c.(3379-3381)aGg>aAg	p.R1127K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1127	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAGCGATGGAGGAGCTATGTG	0.537000													16	77					0	0	0.00074312	0	0
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:49974618C>T	ENST00000555099.1	+	1	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTGGTCTCCTGCGTGGTC	0.488000													15	53					0	0	0.000219431	0	0
TPTE2	93492	broad.mit.edu	37	13	20039428	20039428	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:20039428C>T	ENST00000400230.2	-	9	687	c.643G>A	c.(643-645)Gat>Aat	p.D215N	TPTE2_ENST00000382977.4_Missense_Mutation_p.D215N|TPTE2_ENST00000382975.4_Missense_Mutation_p.D175N|TPTE2_ENST00000255310.6_Missense_Mutation_p.D138N|TPTE2_ENST00000457266.2_Missense_Mutation_p.D104N|TPTE2_ENST00000400103.2_Missense_Mutation_p.D104N|TPTE2_ENST00000390680.2_Missense_Mutation_p.D138N|TPTE2_ENST00000382978.1_Missense_Mutation_p.D175N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	215	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCAAATCCATCCCTTGTGTAT	0.303000													34	154					0	0	0.00170553	0	0
NR1H4	9971	broad.mit.edu	37	12	100928737	100928737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:100928737C>T	ENST00000548884.1	+	6	1197	c.656C>T	c.(655-657)aCc>aTc	p.T219I	NR1H4_ENST00000392986.3_Missense_Mutation_p.T223I|NR1H4_ENST00000551379.1_Missense_Mutation_p.T233I|NR1H4_ENST00000549996.1_Missense_Mutation_p.T172I|NR1H4_ENST00000188403.7_Missense_Mutation_p.T229I	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	233					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAGATCAGACCGTGAATGAA	0.423000													31	23					0	0	0.000409698	0	0
PPM1E	22843	broad.mit.edu	37	17	57057591	57057591	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:57057591G>A	ENST00000308249.2	+	7	1596	c.1467G>A	c.(1465-1467)agG>agA	p.R489R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	498	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TATTCCTGAGGGACATGAACA	0.443000													16	19					0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82582120	82582120	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:82582120C>T	ENST00000423517.2	-	5	8486	c.8149G>A	c.(8149-8151)Gaa>Aaa	p.E2717K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2717K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2648					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCATCTTCTTTATACTGA	0.373000													7	15					0	0	8.12818e-05	0	0
PCK2	5106	broad.mit.edu	37	14	24573072	24573072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24573072C>T	ENST00000545054.2	+	10	2338	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	PCK2_ENST00000559250.1_Missense_Mutation_p.S509L|PCK2_ENST00000558096.1_Missense_Mutation_p.R442C|PCK2_ENST00000216780.4_Missense_Mutation_p.R608C|PCK2_ENST00000561286.1_Missense_Mutation_p.R474C|NRL_ENST00000561028.1_Intron			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	608					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ACAGGAGGTTCGTGACATTCG	0.562000													15	79					0	0	0.000219431	0	0
LPHN2	23266	broad.mit.edu	37	1	82456404	82456404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:82456404C>T	ENST00000370728.1	+	25	4600	c.3955C>T	c.(3955-3957)Cat>Tat	p.H1319Y	LPHN2_ENST00000319517.6_Missense_Mutation_p.H1263Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.H1334Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.H1244Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.H1276Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.H1291Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.H1321Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.H1334Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.H1276Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.H1263Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.H1321Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.H1291Y			O95490	LPHN2_HUMAN	latrophilin 2	1319					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTGGAGCTCCATCACAAAGA	0.502000													13	38					0	0	0.000422831	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460302	107460302	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:107460302G>A	ENST00000409382.3	-	2	742	c.132C>T	c.(130-132)tcC>tcT	p.S44S	ST6GAL2_ENST00000361686.4_Silent_p.S44S|ST6GAL2_ENST00000409087.3_Silent_p.S44S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	44					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTCCAGGAAGGAGAGGGAGC	0.627000													21	32					0	0	0.00152264	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:40001459C>T	ENST00000308666.3	-	3	1313	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000													18	72					0	0	0.00074312	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518305	161518305	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161518305G>A	ENST00000367969.3	-	3	516	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCGR3A_ENST00000443193.1_Silent_p.F110F|FCGR3A_ENST00000436743.1_Silent_p.F75F|FCGR3A_ENST00000540048.1_Silent_p.F75F|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	75	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGCGTCAATGAAGTAGCTCG	0.552000													9	258					0	0	0.000566183	0	0
OR4D1	26689	broad.mit.edu	37	17	56233033	56233033	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56233033C>T	ENST00000268912.5	+	1	540	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCCCCAATATCCTAGATAACT	0.542000													46	56					0	0	0.000781405	0	0
SLC6A6	6533	broad.mit.edu	37	3	14523300	14523300	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:14523300C>T	ENST00000454876.2	+	14	2002	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	SLC6A6_ENST00000360861.3_Missense_Mutation_p.P558L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	558					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCTGCGTTCCCTTGGTCATC	0.617000													9	57					0	0	0.000274275	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651419	1651419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:1651419G>A	ENST00000399676.2	+	1	387	c.349G>A	c.(349-351)Ggg>Agg	p.G117R		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	117	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGTCCAAGGGGGGCTGTGG	0.706000													28	36					0	0	0.00127121	0	0
KCNT1	57582	broad.mit.edu	37	9	138656903	138656903	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:138656903G>A	ENST00000298480.5	+	12	1136	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	KCNT1_ENST00000486577.2_Missense_Mutation_p.M315I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M321I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M354I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M309I|KCNT1_ENST00000490355.2_Missense_Mutation_p.M335I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M335I|KCNT1_ENST00000263604.3_Missense_Mutation_p.M335I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	354						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTCTGGATGGAGCGGCAGA	0.632000													9	26					0	0	0.000274275	0	0
COL6A5	256076	broad.mit.edu	37	3	130095577	130095577	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:130095577C>T	ENST00000265379.6	+	3	1059	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	COL6A5_ENST00000432398.2_Missense_Mutation_p.L189F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	189	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCATTTCAACCTTCGGACAAT	0.478000													3	8					0	0	6.4e-05	0	0
CCNF	899	broad.mit.edu	37	16	2485844	2485844	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2485844C>T	ENST00000397066.4	+	4	404	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	106					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGCTGTGAAGCTGGGCATAGC	0.458000													11	54					0	0	0.00074312	0	0
FSTL4	23105	broad.mit.edu	37	5	132939584	132939584	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:132939584C>T	ENST00000265342.7	-	2	340	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	31						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCCGGGCCTCTGCTGGTT	0.537000													18	84					0	0	0.00121646	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204063	10204063	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:10204063G>A	ENST00000253109.4	-	5	1422	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P355L|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P395L	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	395	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GGTGCTGAAGGGCTTGTCATT	0.577000													38	102					0	0	0.00128727	0	0
OR13C3	138803	broad.mit.edu	37	9	107298641	107298641	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:107298641G>A	ENST00000374781.2	-	1	496	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCCACATAACGATCAAATGCC	0.473000													36	84					0	0	0.00128727	0	0
MOG	4340	broad.mit.edu	37	6	29627242	29627242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29627242C>T	ENST00000376894.4	+	2	353	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	MOG_ENST00000376891.4_Missense_Mutation_p.L79F|MOG_ENST00000396701.2_Missense_Mutation_p.L79F|MOG_ENST00000376898.3_Missense_Mutation_p.L79F|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.L79F|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.L79F|MOG_ENST00000533330.2_Missense_Mutation_p.L79F|MOG_ENST00000376902.3_Missense_Mutation_p.L79F|MOG_ENST00000431798.2_Missense_Mutation_p.L79F|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Missense_Mutation_p.L79F|MOG_ENST00000416766.2_Missense_Mutation_p.L79F|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	79	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTGGTTCATCTCTACAGAAA	0.552000													14	74					0	0	0.000219431	0	0
RAB40C	57799	broad.mit.edu	37	16	677501	677501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:677501C>T	ENST00000535977.1	+	7	947	c.725C>T	c.(724-726)tCc>tTc	p.S242F	RAB40C_ENST00000248139.3_Missense_Mutation_p.S242F|RAB40C_ENST00000538492.1_Missense_Mutation_p.S242F|RAB40C_ENST00000539661.1_Missense_Mutation_p.S242F	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	242					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CGTTCCTACTCCCTGGCCAGC	0.652000													37	98					0	0	0.00170553	0	0
APOB	338	broad.mit.edu	37	2	21235060	21235060	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:21235060G>A	ENST00000233242.1	-	26	4807	c.4680C>T	c.(4678-4680)tcC>tcT	p.S1560S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1560					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATACTTTAGGGAAGCAGTAT	0.423000													108	255					0	0	0.000781405	0	0
REG1P	5969	broad.mit.edu	37	2	79365079	79365079	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:79365079G>A	ENST00000444841.1	-	0	166																											TATGTGTGGGGAAAACAATCT	0.502000													5	16					0	0	0.000602214	0	0
ZIK1	284307	broad.mit.edu	37	19	58102402	58102402	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:58102402A>G	ENST00000597850.1	+	4	1438	c.1223A>G	c.(1222-1224)aAg>aGg	p.K408R	ZIK1_ENST00000536878.2_Missense_Mutation_p.K395R|ZIK1_ENST00000599456.1_Missense_Mutation_p.K353R|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCCTTATAAGTGTGGTGAC	0.463000													22	44					0	0	0.000375601	0	0
DOCK9	23348	broad.mit.edu	37	13	99567641	99567641	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:99567641G>A	ENST00000376460.1	-	8	914	c.834C>T	c.(832-834)atC>atT	p.I278I	DOCK9_ENST00000448493.2_Silent_p.I290I|DOCK9_ENST00000442173.1_Silent_p.I278I|DOCK9_ENST00000339416.2_Silent_p.I279I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	279	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.I278I(1)|p.I290I(1)|p.I279I(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGCTGGAGGATCTTATTTA	0.448000													19	42					0	0	0.00188189	0	0
FAM184A	79632	broad.mit.edu	37	6	119327615	119327615	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:119327615C>T	ENST00000338891.7	-	7	2255	c.1812G>A	c.(1810-1812)gtG>gtA	p.V604V	FAM184A_ENST00000352896.5_Silent_p.V484V|FAM184A_ENST00000522284.1_Silent_p.V484V|FAM184A_ENST00000521531.1_Silent_p.V604V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Silent_p.V484V	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	604										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAATTACCTCCACATTTAATA	0.368000													7	60					0	0	0.000274275	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136457	40136457	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:40136457C>T	ENST00000278198.2	-	2	3349	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.M462I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M462I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M462I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	462					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGACGGTTCCATAGTCTCTA	0.507000													18	38					0	0	0.00121646	0	0
TG	7038	broad.mit.edu	37	8	134146996	134146996	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:134146996C>T	ENST00000220616.4	+	48	8305	c.8265C>T	c.(8263-8265)ctC>ctT	p.L2755L	TG_ENST00000542445.1_Silent_p.L1125L|TG_ENST00000519543.1_Silent_p.L888L|TG_ENST00000377869.1_Silent_p.L2698L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2755					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGAAGATCTCCTAAGCCTCC	0.552000													15	24					0	0	0.000422831	0	0
EMR1	2015	broad.mit.edu	37	19	6913831	6913831	+	Silent	SNP	G	G	A	rs141986863	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6913831G>A	ENST00000312053.4	+	11	1327	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	EMR1_ENST00000450315.3_Silent_p.T253T|EMR1_ENST00000381404.4_Silent_p.T378T|EMR1_ENST00000381407.5_Silent_p.T289T|EMR1_ENST00000250572.8_Silent_p.T430T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	430	Ser/Thr-rich.			T -> A (in Ref. 1; CAA57232).	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGTTCGGACGGAATACTTAG	0.502000													33	77					0	0	0.00111076	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589404	136589404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:136589404C>T	ENST00000531224.1	-	10	2545	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E763K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E592K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E763K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E763K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E765K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	765					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E765K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCTTTTCTTCTCGAGAACTG	0.383000													5	19					0	0	0.000602214	0	0
FBXO47	494188	broad.mit.edu	37	17	37119098	37119098	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:37119098C>T	ENST00000378079.2	-	2	380	c.181_splice	c.e2+1	p.V61_splice		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	61	F-box.									NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CAAACCTCACCTGACAAATAT	0.348000													12	17					0	0	0.00136819	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172150	81172150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:81172150C>T	ENST00000394685.3	+	5	754	c.335C>T	c.(334-336)gCc>gTc	p.A112V	KIAA1199_ENST00000356249.5_Missense_Mutation_p.A112V|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A112V			Q8WUJ3	K1199_HUMAN	KIAA1199	112	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTGGGAGTGCCCTCTGCCCT	0.517000													20	42					0	0	0.00188189	0	0
PKIB	5570	broad.mit.edu	37	6	123039007	123039007	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:123039007G>A	ENST00000392490.1	+	3	465	c.68G>A	c.(67-69)aGg>aAg	p.R23K	PKIB_ENST00000354275.2_Missense_Mutation_p.R23K|PKIB_ENST00000368448.1_Missense_Mutation_p.R23K|PKIB_ENST00000368446.1_Missense_Mutation_p.R32K|PKIB_ENST00000258014.3_Missense_Mutation_p.R30K|PKIB_ENST00000392491.2_Missense_Mutation_p.R23K|PKIB_ENST00000368452.2_Missense_Mutation_p.R23K	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	23		Important for inhibition (By similarity).					cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TCTTCAGCAAGGGCAGGCCGC	0.498000													10	48					0	0	0.000442599	0	0
LRP2	4036	broad.mit.edu	37	2	170060581	170060581	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170060581C>T	ENST00000263816.3	-	42	8201	c.7916G>A	c.(7915-7917)gGa>gAa	p.G2639E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2639					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGTTGATTCCCCTGGGCTG	0.458000													49	115					0	0	0.000781405	0	0
PTPRK	5796	broad.mit.edu	37	6	128388688	128388688	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:128388688G>A	ENST00000368227.3	-	12	2499	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	PTPRK_ENST00000532331.1_Silent_p.F711F|PTPRK_ENST00000368215.3_Silent_p.F711F|PTPRK_ENST00000524481.1_5'UTR|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Silent_p.F711F|PTPRK_ENST00000368213.5_Silent_p.F711F|PTPRK_ENST00000368226.4_Silent_p.F711F|PTPRK_ENST00000368207.3_Silent_p.F711F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	711					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		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)		TCATCGCCTGGAAATAGATGT	0.488000													10	7					0	0	0.000442599	0	0
CASC5	57082	broad.mit.edu	37	15	40943754	40943754	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:40943754C>G	ENST00000346991.5	+	21	6766	c.6376C>G	c.(6376-6378)Cta>Gta	p.L2126V	CASC5_ENST00000399668.2_Missense_Mutation_p.L2100V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2126	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACTGAAGAGCTACTGGATCA	0.358000													4	21					0	0	0.000157383	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414996	42414996	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:42414996G>A	ENST00000381668.5	-	37	3663	c.3432C>T	c.(3430-3432)atC>atT	p.I1144I	ATP8A1_ENST00000264449.10_Silent_p.I1129I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1144					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.I1144I(1)|p.I1129I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTGTGAAACGATTCCATTTT	0.438000													6	20					0	0	8.12818e-05	0	0
PSG9	5678	broad.mit.edu	37	19	43763240	43763240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:43763240C>T	ENST00000418820.2	-	3	576	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG9_ENST00000443718.3_Missense_Mutation_p.E160K|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.E253K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	160	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.507000													80	215					0	0	0.000781405	0	0
RMDN1	51115	broad.mit.edu	37	8	87497142	87497142	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:87497142C>T	ENST00000406452.3	-	5	703	c.544G>A	c.(544-546)Gct>Act	p.A182T	RMDN1_ENST00000519966.1_Intron|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000430676.2_Intron|RMDN1_ENST00000523911.1_Missense_Mutation_p.A138T	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		GCAATTTTAGCCTTGATGCCT	0.279000													28	49					0	0	0.000491102	0	0
RC3H1	149041	broad.mit.edu	37	1	173951933	173951933	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:173951933A>G	ENST00000367696.2	-	5	1051	c.700T>C	c.(700-702)Ttt>Ctt	p.F234L	RC3H1_ENST00000258349.4_Missense_Mutation_p.F234L|RC3H1_ENST00000367694.2_Missense_Mutation_p.F234L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	234					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			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						GCTTGAGGAAACCGTGGCTCC	0.433000													47	63					0	0	0.000781405	0	0
MARCH7	64844	broad.mit.edu	37	2	160604811	160604811	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:160604811C>T	ENST00000259050.3	+	5	1132	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	MARCH7_ENST00000409175.1_Missense_Mutation_p.P337L|MARCH7_ENST00000409591.1_Missense_Mutation_p.P299L|MARCH7_ENST00000539065.1_Missense_Mutation_p.P281L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	337	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCTGAAGTTCCCGATAATAGG	0.408000													22	40					0	0	0.000295444	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123216103	123216103	+	Silent	SNP	G	G	A	rs79089953	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:123216103G>A	ENST00000349780.4	-	21	2603	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	CDK5RAP2_ENST00000360822.3_Silent_p.F776F|CDK5RAP2_ENST00000359309.3_Silent_p.F808F|CDK5RAP2_ENST00000360190.4_Silent_p.F808F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	808					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTCTGTCAAGAATAGTTGTC	0.448000													33	53					0	0	0.00148497	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786808	121786808	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:121786808G>A	ENST00000261367.7	+	12	3835	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	SNCAIP_ENST00000379536.2_Missense_Mutation_p.E696K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E358K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E803K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E390K|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E314K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E756K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	756					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGAGCAGCGAACCAGACTT	0.577000													5	21					0	0	0.000602214	0	0
MCTP1	79772	broad.mit.edu	37	5	94275877	94275877	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:94275877G>A	ENST00000515393.1	-	5	1083	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	MCTP1_ENST00000429576.2_Silent_p.L141L|MCTP1_ENST00000505208.1_Silent_p.L141L|MCTP1_ENST00000312216.8_Silent_p.L141L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	362					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGATCTTTCAGAGTAAGGGTC	0.363000													15	15					0	0	0.000422831	0	0
TNPO2	30000	broad.mit.edu	37	19	12812989	12812989	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:12812989G>A	ENST00000425528.1	-	22	2665	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	TNPO2_ENST00000588216.1_Intron|TNPO2_ENST00000441499.1_Intron|TNPO2_ENST00000356861.5_Intron|TNPO2_ENST00000592287.1_Missense_Mutation_p.R770C|TNPO2_ENST00000450764.2_Intron			O14787	TNPO2_HUMAN	transportin 2	770					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCGTCAGGCGACCTGCAACC	0.687000													17	18					0	0	0.000958276	0	0
ITGA2B	3674	broad.mit.edu	37	17	42466799	42466799	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:42466799C>T	ENST00000262407.5	-	1	74	c.43G>A	c.(43-45)Gag>Aag	p.E15K	ITGA2B_ENST00000353281.4_Missense_Mutation_p.E15K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	15					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCACCCACTCCAGAAGCCAG	0.607000													11	38					0	0	0.00136819	0	0
NCOA1	8648	broad.mit.edu	37	2	24930526	24930526	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:24930526C>T	ENST00000405141.1	+	14	2898	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	NCOA1_ENST00000406961.1_Silent_p.S729S|NCOA1_ENST00000538539.1_Silent_p.S729S|NCOA1_ENST00000395856.3_Silent_p.S729S|NCOA1_ENST00000288599.5_Silent_p.S729S|NCOA1_ENST00000407230.1_Silent_p.S578S|NCOA1_ENST00000348332.3_Silent_p.S729S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	729									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAAACTCCAGTATAAAAC	0.398000			T	PAX3	alveolar rhadomyosarcoma								24	26					0	0	0.000375601	0	0
RALYL	138046	broad.mit.edu	37	8	85441753	85441753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:85441753G>A	ENST00000521268.1	+	2	1302	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	RALYL_ENST00000522455.1_Missense_Mutation_p.R66Q|RALYL_ENST00000521695.1_Missense_Mutation_p.R66Q|RALYL_ENST00000518566.1_Missense_Mutation_p.R66Q|RALYL_ENST00000517638.1_Missense_Mutation_p.R79Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	66	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGAGTGAGCGACATGCAAGA	0.428000													12	37					0	0	0.00185496	0	0
BMP1	649	broad.mit.edu	37	8	22052249	22052249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:22052249G>A	ENST00000306385.5	+	12	2126	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	BMP1_ENST00000397816.3_Missense_Mutation_p.D486N|BMP1_ENST00000306349.8_Missense_Mutation_p.D486N|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.D486N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	486	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGAGCGCCACGACAGCTGTGC	0.612000													13	31					0	0	0.00185496	0	0
HDAC7	51564	broad.mit.edu	37	12	48191897	48191897	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:48191897G>A	ENST00000080059.7	-	5	454	c.455C>T	c.(454-456)cCc>cTc	p.P152L	HDAC7_ENST00000427332.2_Missense_Mutation_p.P113L|HDAC7_ENST00000380610.4_Missense_Mutation_p.P169L|HDAC7_ENST00000354334.3_Missense_Mutation_p.P152L|HDAC7_ENST00000552960.1_Missense_Mutation_p.P135L	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	113	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TTACCTGTAGGGAATGCCGGG	0.597000													123	160					0	0	0.000781405	0	0
PMFBP1	83449	broad.mit.edu	37	16	72162589	72162589	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:72162589G>A	ENST00000537465.1	-	14	2228	c.2070C>T	c.(2068-2070)acC>acT	p.T690T	PMFBP1_ENST00000355636.6_Silent_p.T540T|PMFBP1_ENST00000237353.10_Silent_p.T685T			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	690										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTGCTGGCTGGTGTTGTATT	0.443000													16	46					0	0	0.00074312	0	0
SCAP	22937	broad.mit.edu	37	3	47476599	47476599	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:47476599C>T	ENST00000265565.5	-	3	563	c.151G>A	c.(151-153)Gga>Aga	p.G51R	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	51					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGTCCTGTTCCTGGCAAGGGG	0.532000													13	40					0	0	0.000219431	0	0
FERMT3	83706	broad.mit.edu	37	11	63978207	63978207	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:63978207C>T	ENST00000279227.5	+	3	380	c.285C>T	c.(283-285)ccC>ccT	p.P95P	FERMT3_ENST00000345728.5_Silent_p.P95P	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	95					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TCTTTGGGCCCCAGCACCGGC	0.647000													57	112					0	0	0.000781405	0	0
TMEM241	85019	broad.mit.edu	37	18	20936596	20936596	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:20936596G>A	ENST00000383233.3	-	12	685	c.633C>T	c.(631-633)ttC>ttT	p.F211F	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Silent_p.F90F	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	211						integral to membrane											AGAAGTACAGGAATGGGAAGT	0.522000													5	21					0	0	0.000602214	0	0
PCDH19	57526	broad.mit.edu	37	X	99551604	99551604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:99551604C>T	ENST00000373034.4	-	6	4793	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	PCDH19_ENST00000420881.2_Missense_Mutation_p.D992N|PCDH19_ENST00000255531.7_Missense_Mutation_p.D993N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1040					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATGGTCACATCGACAGTCCTC	0.602000													15	10					0	0	0.000219431	0	0
SI	6476	broad.mit.edu	37	3	164737392	164737392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:164737392C>T	ENST00000264382.3	-	28	3483	c.3421G>A	c.(3421-3423)Ggt>Agt	p.G1141S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1141	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTACCTACACCAGGGGGTTGG	0.433000										HNSCC(35;0.089)			7	10					0	0	0.000157383	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330858	39330858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:39330858G>A	ENST00000221419.5	-	8	1477	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	HNRNPL_ENST00000600873.1_Missense_Mutation_p.P238S	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	371	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCGGGTGGTGGGGGAGGGGGT	0.612000													15	14					0	0	0.000566183	0	0
ILDR1	286676	broad.mit.edu	37	3	121712024	121712024	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:121712024C>T	ENST00000273691.3	-	6	1545	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	ILDR1_ENST00000462014.1_Silent_p.R492R|ILDR1_ENST00000393631.1_Silent_p.R435R|ILDR1_ENST00000344209.5_Silent_p.R524R|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	524						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCTTTTTTCCTGCTATTCT	0.647000													6	3					0	0	0.00116845	0	0
RPRD2	23248	broad.mit.edu	37	1	150445286	150445286	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:150445286C>T	ENST00000401000.4	+	10	3849	c.3784C>T	c.(3784-3786)Ccc>Tcc	p.P1262S	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1288S|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1288	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGTGGTGTCCCCTTTTCTAC	0.632000													17	20					0	0	0.000422831	0	0
NCOA1	8648	broad.mit.edu	37	2	24929663	24929663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:24929663G>A	ENST00000405141.1	+	14	2035	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	NCOA1_ENST00000406961.1_Missense_Mutation_p.G442R|NCOA1_ENST00000538539.1_Missense_Mutation_p.G442R|NCOA1_ENST00000395856.3_Missense_Mutation_p.G442R|NCOA1_ENST00000288599.5_Missense_Mutation_p.G442R|NCOA1_ENST00000407230.1_Missense_Mutation_p.G291R|NCOA1_ENST00000348332.3_Missense_Mutation_p.G442R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	442	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGTTTCGGATGCTCACC	0.463000			T	PAX3	alveolar rhadomyosarcoma								33	70					0	0	0.000953801	0	0
FAT4	79633	broad.mit.edu	37	4	126328139	126328139	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126328139G>A	ENST00000394329.3	+	3	5425	c.5412G>A	c.(5410-5412)agG>agA	p.R1804R	FAT4_ENST00000335110.5_Silent_p.R102R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1804	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTGGACAGGGAACGCCGCT	0.458000													15	18					0	0	0.000566183	0	0
CAND1	55832	broad.mit.edu	37	12	67699646	67699646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:67699646C>T	ENST00000545606.1	+	10	2635	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	733					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATAAGTGGATCCATTCTCAAT	0.428000													40	55					0	0	0.00128727	0	0
NYAP1	222950	broad.mit.edu	37	7	100086605	100086605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:100086605G>T	ENST00000423930.1	+	4	1420	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	NYAP1_ENST00000300179.2_Nonsense_Mutation_p.E421*|NYAP1_ENST00000454988.1_Nonsense_Mutation_p.E364*			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	421	Pro-rich.																GCCCCGGGGGGAGCGGGAGCT	0.756000													5	7					0.000602214	0.00380716	0.000602214	1	0
BATF3	55509	broad.mit.edu	37	1	212870376	212870376	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:212870376C>T	ENST00000243440.1	-	2	344	c.122G>A	c.(121-123)aGg>aAg	p.R41K	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	41					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTTTTCTCTCCTTCGGACCTT	0.562000													22	50					0	0	0.000375601	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	108					0	0	0.00024832	0	0
ZNF777	27153	broad.mit.edu	37	7	149152758	149152758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:149152758G>A	ENST00000247930.4	-	2	679	c.356C>T	c.(355-357)tCc>tTc	p.S119F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGGAGTGGGAGAGAAGGGA	0.607000													51	108					0	0	0.000781405	0	0
NOD2	64127	broad.mit.edu	37	16	50765683	50765683	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:50765683G>A	ENST00000300589.2	+	12	3181	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1026					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTTCTCTCTAGAGGAGGTTGA	0.493000													15	50					0	0	0.000566183	0	0
MYOCD	93649	broad.mit.edu	37	17	12639544	12639544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:12639544G>A	ENST00000425538.1	+	6	682	c.482G>A	c.(481-483)gGg>gAg	p.G161E	MYOCD_ENST00000343344.4_Missense_Mutation_p.G161E|MYOCD_ENST00000395988.1_Missense_Mutation_p.G65E	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	161	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGCGATGGGCTTTCTCCG	0.552000													37	165					0	0	0.000692331	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461977	5461977	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:5461977C>T	ENST00000296564.7	+	13	2752	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	844										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATAACAATCCTGTAGAATT	0.403000													8	63					0	0	0.000442599	0	0
CCNA1	8900	broad.mit.edu	37	13	37016767	37016767	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:37016767C>T	ENST00000418263.1	+	9	1710	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	CCNA1_ENST00000449823.1_Missense_Mutation_p.L411F|CCNA1_ENST00000255465.4_Missense_Mutation_p.L455F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L411F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	455					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGTGTGTCCCTCATGGAGCC	0.443000													11	35					0	0	0.000219431	0	0
MEP1B	4225	broad.mit.edu	37	18	29793396	29793396	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:29793396G>A	ENST00000269202.6	+	11	1500	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D485N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	485	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGAGCCAATGATGATCAATT	0.408000													7	22					0	0	0.000157383	0	0
ADAM21	8747	broad.mit.edu	37	14	70924562	70924562	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70924562G>A	ENST00000603540.1	+	2	604	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ADAM21_ENST00000267499.3_Missense_Mutation_p.E116K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	116					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGTTACGTGGAGGCAGCCCC	0.478000													25	72					0	0	0.00178596	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099665	142099665	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142099665G>A	ENST00000390359.3	-	0	175																											TACATGACCCGAAATTGGATC	0.502000													30	40					0	0	0.000491102	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691382	10691382	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:10691382C>T	ENST00000302079.6	-	44	6851		c.e44-1		PIEZO2_ENST00000285141.4_Splice_Site|PIEZO2_ENST00000580640.1_Splice_Site|PIEZO2_ENST00000538948.1_Splice_Site|PIEZO2_ENST00000503781.3_Splice_Site			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2							integral to membrane	ion channel activity										GCTGAATTTCCTAAAATGTAA	0.418000													7	19					0	0	0.000157383	0	0
TSC2	7249	broad.mit.edu	37	16	2131643	2131643	+	Missense_Mutation	SNP	T	T	A	rs137854389		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2131643T>A	ENST00000219476.3	+	31	4288	c.3658T>A	c.(3658-3660)Tcc>Acc	p.S1220T	TSC2_ENST00000568454.1_Missense_Mutation_p.S1187T|TSC2_ENST00000439673.2_Missense_Mutation_p.S1140T|TSC2_ENST00000353929.4_Missense_Mutation_p.S1177T|TSC2_ENST00000401874.2_Missense_Mutation_p.S1176T|TSC2_ENST00000382538.6_Missense_Mutation_p.S1128T|TSC2_ENST00000350773.4_Missense_Mutation_p.S1220T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1220					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCCCTTTCTCCTCGGACAT	0.617000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				45	76					0	0	0.000680045	0	0
C1orf173	127254	broad.mit.edu	37	1	75072375	75072375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:75072375C>T	ENST00000326665.5	-	10	1617	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E270K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	467	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTACCACTTCTTTGAGCCCT	0.373000													21	38					0	0	0.00152264	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673992	20673992	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:20673992G>A	ENST00000525748.1	+	15	2501	c.2228G>A	c.(2227-2229)aGa>aAa	p.R743K	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	743					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCCCTGGAAGATTTATTGAG	0.433000													23	138					0	0	0.00106085	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100779	74100779	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:74100779G>A	ENST00000338820.3	-	4	858	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Missense_Mutation_p.L237F|DNAJB12_ENST00000444643.2_Missense_Mutation_p.L203F	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	203					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ATGTTGAAGAGGTCTTCAGGG	0.607000													8	17					0	0	0.000157383	0	0
SLC43A1	8501	broad.mit.edu	37	11	57252616	57252616	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:57252616C>T	ENST00000278426.3	-	15	1988	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	SLC43A1_ENST00000528450.1_Missense_Mutation_p.G545R	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	545					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGGCCCATCCCATTGGCGGCG	0.572000													12	35					0	0	0.000219431	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931309	62931309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62931309C>T	ENST00000306494.6	-	9	1630	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	544					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCACAGAGCTCCTCTGAGG	0.507000													7	50					0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21228808	21228808	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:21228808G>A	ENST00000233242.1	-	26	11059	c.10932C>T	c.(10930-10932)ttC>ttT	p.F3644F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3644					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGGCTCTGGAAAGACCCAG	0.458000													92	182					0	0	0.000781405	0	0
BACH2	60468	broad.mit.edu	37	6	90660964	90660964	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:90660964C>G	ENST00000257749.4	-	7	1568	c.861G>C	c.(859-861)gaG>gaC	p.E287D	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.E287D|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.E287D	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	287						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGTGATGCTCTCTTCCTCAT	0.592000													16	30					0	0	0.000958276	0	0
HOXB1	3211	broad.mit.edu	37	17	46607775	46607775	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:46607775C>T	ENST00000239174.6	-	1	584	c.492G>A	c.(490-492)aaG>aaA	p.K164K	HOXB1_ENST00000577092.1_Silent_p.K164K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	164						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGTGTTTCCTTGTCCTCGG	0.597000													16	28					0	0	0.000422831	0	0
COL4A5	1287	broad.mit.edu	37	X	107938101	107938101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:107938101C>T	ENST00000328300.6	+	51	5015	c.4771C>T	c.(4771-4773)Cat>Tat	p.H1591Y	COL4A5_ENST00000361603.2_Missense_Mutation_p.H1585Y	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1585	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGATTCCCCATTGTCCTCA	0.448000									Alport syndrome with Diffuse Leiomyomatosis				26	18					0	0	0.00178596	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337031	99337031	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:99337031C>T	ENST00000376503.5	-	23	2129	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	692					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TTACTCTTTTCCAGTCTGTTT	0.468000													22	62					0	0	0.00047179	0	0
PVRL4	81607	broad.mit.edu	37	1	161044155	161044155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161044155C>T	ENST00000368012.3	-	6	1311	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	PVRL4_ENST00000453926.2_Missense_Mutation_p.E71K	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	337					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGTCTTCCTGGGGGTCT	0.602000													20	34					0	0	0.000295444	0	0
GSS	2937	broad.mit.edu	37	20	33539607	33539607	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:33539607C>T	ENST00000216951.2	-	2	147	c.49G>A	c.(49-51)Gag>Aag	p.E17K	GSS_ENST00000451957.2_Missense_Mutation_p.E17K	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	17					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CGTGCCAGCTCCTCTAGCTGC	0.597000													10	33					0	0	0.00136819	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494421	65494421	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:65494421C>T	ENST00000321870.1	+	1	1608	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGGCTGCCTCCTGCCCGGAGA	0.667000													7	14					0	0	0.000157383	0	0
BRPF3	27154	broad.mit.edu	37	6	36177996	36177996	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36177996C>T	ENST00000357641.6	+	6	2123	c.1870C>T	c.(1870-1872)Cca>Tca	p.P624S	BRPF3_ENST00000534400.1_Missense_Mutation_p.P624S|BRPF3_ENST00000443324.2_Missense_Mutation_p.P624S|BRPF3_ENST00000339717.7_Missense_Mutation_p.P624S|BRPF3_ENST00000543502.1_Missense_Mutation_p.P624S|BRPF3_ENST00000534694.1_Missense_Mutation_p.P624S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	624	Bromo.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGTTTAGGTTCCAGATTACCT	0.438000													15	29					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179614007	179614007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179614007G>A	ENST00000360870.5	-	46	13342	c.13120C>T	c.(13120-13122)Caa>Taa	p.Q4374*	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	507	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTCTGCTTGGTGCAGCTTT	0.358000													4	10					0	0	0.00024832	0	0
SPINT2	10653	broad.mit.edu	37	19	38774303	38774303	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:38774303G>A	ENST00000301244.7	+	2	578	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	SPINT2_ENST00000587090.1_5'UTR|SPINT2_ENST00000454580.3_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	48	BPTI/Kunitz inhibitor 1.	Reactive bond (By similarity).			cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGATGCCGGGCCTCCATG	0.557000													64	127					0	0	0.000781405	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406625	55406625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:55406625G>A	ENST00000398661.2	-	4	420	c.289C>T	c.(289-291)Cct>Tct	p.P97S	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P67S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P67S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P67S|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P67S|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P67S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	97							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATATCTGTAGGAACTATAACC	0.313000													10	22					0	0	0.000442599	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413232	1413232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:1413232C>T	ENST00000381524.3	+	8	844	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CSF2RA_ENST00000381529.3_Missense_Mutation_p.P220S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.P220S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.P220S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.P220S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.P220S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.P220S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.P220S|CSF2RA_ENST00000501036.2_Missense_Mutation_p.P87S|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	220						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGATTCAACCCTCCCAGCAA	0.572000													67	218					0	0	0.000781405	0	0
PSD4	23550	broad.mit.edu	37	2	113940600	113940600	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:113940600C>T	ENST00000245796.6	+	2	762	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.P189P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	189					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGTCTCCCCACGCCCCCTG	0.642000													20	30					0	0	0.00188189	0	0
JRK	8629	broad.mit.edu	37	8	143740339	143740339	+	RNA	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:143740339C>T	ENST00000507178.2	-	0	7471									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				CTACCACATCCTCAAGGCCCA	0.522000													8	27					0	0	0.000274275	0	0
KMT2D	8085	broad.mit.edu	37	12	49444788	49444788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49444788G>A	ENST00000301067.7	-	10	2677	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCAAGCAAGGGAGATAAGGA	0.647000													38	52					0	0	0.00148497	0	0
RGR	5995	broad.mit.edu	37	10	86007474	86007474	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:86007474C>T	ENST00000372092.3	+	2	162	c.157C>T	c.(157-159)Cct>Tct	p.P53S	RGR_ENST00000359452.4_Silent_p.A69A|RGR_ENST00000358110.5_Silent_p.A69A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCCTGAATGCCCTCGTTGCAG	0.652000													14	59					0	0	0.000422831	0	0
PEG3	5178	broad.mit.edu	37	19	57325466	57325466	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57325466C>T	ENST00000326441.9	-	10	4707	c.4344G>A	c.(4342-4344)ggG>ggA	p.G1448G	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.G1448G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.G1324G|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.G1322G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1448	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATCAGCATCCCCATTTGGCT	0.577000													40	75					0	0	0.00170553	0	0
PLIN3	10226	broad.mit.edu	37	19	4839243	4839243	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4839243G>A	ENST00000221957.4	-	8	1442	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	PLIN3_ENST00000585479.1_Silent_p.A421A|PLIN3_ENST00000592528.1_Silent_p.A410A	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	422					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGATTCCAGGGGCAAAGGGTC	0.622000													35	91					0	0	0.00170553	0	0
WWC3	55841	broad.mit.edu	37	X	10098133	10098133	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:10098133C>T	ENST00000380861.4	+	18	2961	c.2570C>T	c.(2569-2571)cCc>cTc	p.P857L	WWC3_ENST00000454666.1_Missense_Mutation_p.P857L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	857										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTTACAGCCCCGAGAAATTT	0.542000													25	10					0	0	0.00047179	0	0
HMCN1	83872	broad.mit.edu	37	1	186024595	186024595	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:186024595C>T	ENST00000271588.4	+	45	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S	HMCN1_ENST00000367492.2_Silent_p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478000													3	6					0	0	0.00024832	0	0
CACNB2	783	broad.mit.edu	37	10	18690890	18690890	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18690890C>T	ENST00000396576.2	+	2	587	c.86C>T	c.(85-87)tCc>tTc	p.S29F	CACNB2_ENST00000377329.4_Missense_Mutation_p.S30F|CACNB2_ENST00000352115.6_Missense_Mutation_p.S84F|CACNB2_ENST00000324631.7_Missense_Mutation_p.S84F|CACNB2_ENST00000377315.4_Missense_Mutation_p.S36F|CACNB2_ENST00000377319.3_Missense_Mutation_p.S29F|CACNB2_ENST00000282343.8_Missense_Mutation_p.S56F|CACNB2_ENST00000377331.2_Missense_Mutation_p.S56F|CACNB2_ENST00000377328.1_Missense_Mutation_p.S84F	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	84					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCATCCGATTCCGATGTATCT	0.502000													13	26					0	0	0.00185496	0	0
SPI1	6688	broad.mit.edu	37	11	47376925	47376925	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:47376925C>T	ENST00000378538.3	-	5	888	c.666G>A	c.(664-666)aaG>aaA	p.K222K	SPI1_ENST00000227163.4_Silent_p.K223K|SPI1_ENST00000533030.1_3'UTR	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	222					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGTAGGTCATCTTCTTGCGGT	0.607000													11	31					0	0	0.000673444	0	0
SAMM50	25813	broad.mit.edu	37	22	44371952	44371952	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:44371952C>T	ENST00000350028.4	+	8	823	c.666C>T	c.(664-666)acC>acT	p.T222T	SAMM50_ENST00000396202.3_Silent_p.T12T	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	222					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TATGGAAGACCAGCCACACTG	0.463000													12	28					0	0	0.000978159	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541933	66541933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:66541933G>A	ENST00000360242.5	+	5	1081	c.964G>A	c.(964-966)Gat>Aat	p.D322N	CCDC102B_ENST00000584156.1_Missense_Mutation_p.D322N|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D322N|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D322N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	322										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAACATAATGATGAAATGCA	0.363000													5	25					0	0	0.000602214	0	0
GPR98	84059	broad.mit.edu	37	5	89923146	89923146	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:89923146G>A	ENST00000405460.2	+	7	887	c.791G>A	c.(790-792)aGa>aAa	p.R264K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	264					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTCCCGTGAGATTCCTTCAG	0.363000													30	64					0	0	0.001512	0	0
TIMP3	7078	broad.mit.edu	37	22	33254006	33254006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:33254006C>T	ENST00000266085.6	+	4	620	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	107	Mediates interaction with EFEMP1.|NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	p.R107C(1)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TCCTGTAGGTCGCGTCTATGA	0.532000													19	31					0	0	0.00152264	0	0
STON2	85439	broad.mit.edu	37	14	81744156	81744156	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:81744156C>T	ENST00000555447.1	-	6	1911	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	STON2_ENST00000267540.2_Missense_Mutation_p.R500Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	500	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGGTCTATCCGCAAGCTGTG	0.488000													43	66					0	0	0.000437636	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540305	96540305	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:96540305G>A	ENST00000371321.3	+	4	613	c.531G>A	c.(529-531)gtG>gtA	p.V177V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTGCAATGTGATCTGCTCCA	0.353000													26	33					0	0	0.00106085	0	0
CWH43	80157	broad.mit.edu	37	4	48990511	48990511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:48990511C>T	ENST00000226432.4	+	2	244	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	CWH43_ENST00000513409.1_5'UTR	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	21					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTCTTGGTCTCTCTACCATGA	0.393000													21	41					0	0	0.000375601	0	0
UBR4	23352	broad.mit.edu	37	1	19415265	19415265	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:19415265G>A	ENST00000375267.2	-	98	14421	c.14418C>T	c.(14416-14418)acC>acT	p.T4806T	UBR4_ENST00000375224.1_Silent_p.T513T|UBR4_ENST00000429347.2_Silent_p.T329T|UBR4_ENST00000375254.3_Silent_p.T4806T|UBR4_ENST00000375217.2_Silent_p.T4799T|UBR4_ENST00000375226.2_Silent_p.T4782T|UBR4_ENST00000543981.1_Silent_p.T470T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4806					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCCCAGGGTGCCCAGGG	0.597000													25	38					0	0	0.001512	0	0
ASCC3	10973	broad.mit.edu	37	6	100957860	100957860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:100957860G>A	ENST00000369162.2	-	41	6753	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2137	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R2137*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGATGATTTCGAATATATCCT	0.343000													72	82					0	0	0.000781405	0	0
MRVI1	10335	broad.mit.edu	37	11	10626044	10626044	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:10626044G>A	ENST00000547195.1	-	12	1878	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	MRVI1_ENST00000421747.1_Silent_p.L542L|MRVI1_ENST00000545852.1_Silent_p.L236L|MRVI1_ENST00000531107.1_Silent_p.L543L|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Silent_p.L551L|MRVI1_ENST00000541483.1_Silent_p.L345L|MRVI1_ENST00000527509.2_Silent_p.L460L|MRVI1_ENST00000424001.1_Silent_p.L236L|MRVI1_ENST00000558540.1_Silent_p.L236L|MRVI1_ENST00000436272.1_Silent_p.L524L|MRVI1_ENST00000552103.1_Silent_p.L460L|MRVI1_ENST00000534266.2_Silent_p.L236L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	524					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTAGATTCCAGAGTGTAGCTG	0.463000													22	79					0	0	0.00188189	0	0
BATF3	55509	broad.mit.edu	37	1	212870375	212870375	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:212870375C>T	ENST00000243440.1	-	2	345	c.123G>A	c.(121-123)agG>agA	p.R41R	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	41					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTTTTTCTCTCCTTCGGACCT	0.557000													22	48					0	0	0.00047179	0	0
MYO3A	53904	broad.mit.edu	37	10	26463297	26463297	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:26463297G>A	ENST00000265944.5	+	30	4270	c.4104G>A	c.(4102-4104)aaG>aaA	p.K1368K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1368	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGTTGAGGAAGGACAAGATGT	0.433000													10	34					0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457371	110457371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457371C>T	ENST00000378402.5	+	38	5377	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1758	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1760Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCCAAACTCTGTCATAGGA	0.418000										HNSCC(38;0.096)			23	52					0	0	0.00188189	0	0
PLCH1	23007	broad.mit.edu	37	3	155199869	155199869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:155199869C>T	ENST00000460012.1	-	23	4213	c.3856G>A	c.(3856-3858)Gac>Aac	p.D1286N	PLCH1_ENST00000414191.1_Missense_Mutation_p.D1286N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1286N|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1324N|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1324					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTCCCAGTCTTCTCCCTTG	0.512000													34	46					0	0	0.000491102	0	0
SPAG17	200162	broad.mit.edu	37	1	118558588	118558588	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:118558588C>T	ENST00000336338.5	-	29	4352	c.4287_splice	c.e29+1	p.T1429_splice		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1429						cilium|flagellar axoneme|microtubule		p.T1429T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGTCATACCGTTCCATTGA	0.378000													9	19					0	0	0.000673444	0	0
OR1L8	138881	broad.mit.edu	37	9	125330664	125330664	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:125330664G>A	ENST00000304865.2	-	1	174	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGATGAGGAAGAGAACAAAGA	0.502000													22	46					0	0	0.000295444	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273322	145273322	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:145273322G>A	ENST00000369340.3	+	4	620	c.176G>A	c.(175-177)gGa>gAa	p.G59E	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G59E|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G59E|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G59E			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	59	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGGTTTACAGGAGAGGACTGC	0.577000													141	1124					0	0	0.000781405	0	0
CLEC5A	23601	broad.mit.edu	37	7	141643715	141643715	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:141643715G>A	ENST00000546910.1	-	4	385	c.189C>T	c.(187-189)acC>acT	p.T63T	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000551012.2_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	63					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AGCTCCTTGTGGTAATGAAGC	0.418000													8	41					0	0	0.000442599	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	G	A	rs76525337	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:125516744G>A	ENST00000241305.3	-	12	2056	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	634					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCATGAACACGATCAGAGATT	0.532000													30	28					0	0	0.00178596	0	0
SENP7	57337	broad.mit.edu	37	3	101136570	101136570	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:101136570G>A	ENST00000394095.2	-	5	402	c.349C>T	c.(349-351)Cta>Tta	p.L117L	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Silent_p.L84L|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394094.2_Silent_p.L117L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	117					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCTAGGTAGGGTCTTTCTG	0.373000													15	58					0	0	0.00074312	0	0
RHCE	6006	broad.mit.edu	37	1	25712296	25712296	+	Missense_Mutation	SNP	C	C	T	rs1053369		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:25712296C>T	ENST00000349320.3	-	9	1319	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	RHCE_ENST00000413854.1_Missense_Mutation_p.V327I|RHCE_ENST00000455194.1_Missense_Mutation_p.V222I|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000346452.4_Missense_Mutation_p.V176I|RHCE_ENST00000349438.4_Intron|RHCE_ENST00000340849.4_Missense_Mutation_p.V222I|RHCE_ENST00000294413.7_Missense_Mutation_p.V327I|RHCE_ENST00000243186.6_Missense_Mutation_p.V327I|RHCE_ENST00000374352.2_Missense_Mutation_p.V311I			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	327						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGCATGACGGAGATGTGG	0.517000													21	80					0	0	0.00152264	0	0
KLHL23	151230	broad.mit.edu	37	2	170592141	170592141	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170592141A>G	ENST00000392647.2	+	2	861	c.617A>G	c.(616-618)aAg>aGg	p.K206R	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.K206R	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	206	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCAGTTATTAAGTGGACTGCT	0.348000													15	38					0	0	0.000566183	0	0
LIPC	3990	broad.mit.edu	37	15	58855766	58855766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:58855766G>A	ENST00000414170.3	+	9	1519	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LIPC_ENST00000356113.6_Missense_Mutation_p.G411D|LIPC_ENST00000299022.5_Missense_Mutation_p.G411D|LIPC_ENST00000433326.2_Missense_Mutation_p.G350D			P11150	LIPC_HUMAN	lipase, hepatic	411	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTGGATATCGGCGAGCTGATC	0.473000													14	39					0	0	0.000422831	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710395	140710395	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140710395C>T	ENST00000517417.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGA1_ENST00000378105.3_Silent_p.I48I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCAACATCGCCAAGGACC	0.552000													22	104					0	0	0.00188189	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948429	82948429	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:82948429A>T	ENST00000274341.4	-	3	1165	c.315T>A	c.(313-315)taT>taA	p.Y105*	HAPLN1_ENST00000514416.1_Nonsense_Mutation_p.Y105*	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	105	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGTAGCCTCCATAGGTTTTTT	0.433000													21	70					0	0	0.000295444	0	0
EFTUD2	9343	broad.mit.edu	37	17	42957932	42957932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:42957932C>T	ENST00000426333.2	-	8	906	c.609G>A	c.(607-609)atG>atA	p.M203I	EFTUD2_ENST00000592576.1_Missense_Mutation_p.M193I|EFTUD2_ENST00000591382.1_Missense_Mutation_p.M203I|EFTUD2_ENST00000402521.3_Missense_Mutation_p.M168I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	203						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTGGAGTGTCCATGATATTGA	0.453000													23	56					0	0	0.000586117	0	0
C6orf15	29113	broad.mit.edu	37	6	31079934	31079934	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31079934T>C	ENST00000259870.3	-	2	205	c.202A>G	c.(202-204)Agg>Ggg	p.R68G		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	68										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCATTAGACCTAGGGTCCAGA	0.572000													17	59					0	0	0.00121646	0	0
IMPDH2	3615	broad.mit.edu	37	3	49066223	49066223	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:49066223G>A	ENST00000326739.4	-	2	154	c.115C>T	c.(115-117)Cct>Tct	p.P39S		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	39					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ATGTACCCAGGGAGAATGAGA	0.507000													11	22					0	0	0.00185496	0	0
PVRL4	81607	broad.mit.edu	37	1	161049597	161049597	+	Silent	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161049597T>C	ENST00000368012.3	-	2	524	c.222A>G	c.(220-222)gaA>gaG	p.E74E		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	74	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTGGGCGCCTTCGCCCGCGT	0.682000													41	60					0	0	0.000781405	0	0
TNS3	64759	broad.mit.edu	37	7	47409130	47409130	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:47409130G>A	ENST00000398879.1	-	17	1479	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	TNS3_ENST00000311160.9_Silent_p.P371P|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	371						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGATTGCCTGGGGGCCACCTG	0.617000													15	39					0	0	0.000566183	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514990	241514990	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:241514990C>T	ENST00000270357.3	+	8	1373	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	260					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGAGCTTCTTCCCGGAGCTGA	0.652000													22	50					0	0	0.000375601	0	0
SEC22A	26984	broad.mit.edu	37	3	122942477	122942477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:122942477C>T	ENST00000309934.4	+	2	1150	c.254C>T	c.(253-255)tCt>tTt	p.S85F	SEC22A_ENST00000492595.1_Missense_Mutation_p.S85F|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	85	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTCGCCTTCTCTTTCCTGGAT	0.373000													23	134					0	0	0.000878237	0	0
NLRP3	114548	broad.mit.edu	37	1	247587774	247587774	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:247587774G>A	ENST00000366497.2	+	4	1809	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	NLRP3_ENST00000336119.3_Silent_p.E343E|NLRP3_ENST00000391828.3_Silent_p.E343E|NLRP3_ENST00000348069.2_Silent_p.E343E|NLRP3_ENST00000366496.2_Silent_p.E343E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.E343E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	343	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTTCCCGAGGCCTCTCTGC	0.592000													16	70					0	0	0.00074312	0	0
GJB5	2709	broad.mit.edu	37	1	35223138	35223138	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:35223138C>T	ENST00000338513.1	+	2	380	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	69					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ATGAGTTCTTCCCTGTGTCCC	0.602000													30	43					0	0	0.00178596	0	0
HECTD4	283450	broad.mit.edu	37	12	112616802	112616802	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:112616802C>A	ENST00000550722.1	-	64	11253	c.10858G>T	c.(10858-10860)Gtg>Ttg	p.V3620L	HECTD4_ENST00000377560.5_Missense_Mutation_p.V3594L|HECTD4_ENST00000430131.2_Missense_Mutation_p.V3344L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGCTCACCACCTTCACGGGG	0.622000													5	17					1.23904e-05	7.86593e-05	0.000602214	1	0
ENAM	10117	broad.mit.edu	37	4	71507923	71507923	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:71507923G>A	ENST00000396073.3	+	9	1061	c.780G>A	c.(778-780)ggG>ggA	p.G260G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	260					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCTAAAGGGAGTCAGGGAG	0.502000													28	42					0	0	0.000720815	0	0
SPEF2	79925	broad.mit.edu	37	5	35700632	35700632	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:35700632G>A	ENST00000440995.2	+	16	2161	c.2161G>A	c.(2161-2163)Ggt>Agt	p.G721S	SPEF2_ENST00000509059.1_Missense_Mutation_p.G721S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G726S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	726					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATCCTAGATGGTTTTCCAAT	0.363000													8	17					0	0	0.000442599	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048624	42048624	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:42048624G>A	ENST00000372584.1	-	3	2859	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S	HIVEP3_ENST00000429157.2_Silent_p.S615S|HIVEP3_ENST00000247584.5_Silent_p.S615S|HIVEP3_ENST00000372583.1_Silent_p.S615S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	615	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCGAGGGCTTGGAGGCTGTGT	0.527000													58	69					0	0	0.000781405	0	0
PHKG1	5260	broad.mit.edu	37	7	56149881	56149881	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:56149881G>A	ENST00000452681.2	-	8	858	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	PHKG1_ENST00000537360.1_Missense_Mutation_p.P151S|PHKG1_ENST00000297373.2_Missense_Mutation_p.P205S	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	205	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGTAGCCCGGGTGGTCCTCA	0.627000													28	74					0	0	0.00127121	0	0
TTC18	118491	broad.mit.edu	37	10	75082767	75082767	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:75082767C>T	ENST00000401621.2	-	10	1196	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	TTC18_ENST00000394865.1_Missense_Mutation_p.G359E|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.G359E			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	359							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATGAAAAGCTCCCCGAATTCT	0.358000													30	34					0	0	0.000491102	0	0
C19orf55	148137	broad.mit.edu	37	19	36255778	36255778	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:36255778C>T	ENST00000544099.1	+	6	630	c.567C>T	c.(565-567)tcC>tcT	p.S189S	C19orf55_ENST00000396908.4_Silent_p.S189S			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	189										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAACTCATCCCTGCTGGACC	0.627000													7	16					0	0	8.12818e-05	0	0
PRSS35	167681	broad.mit.edu	37	6	84233586	84233586	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:84233586C>T	ENST00000536636.1	+	3	771	c.426C>T	c.(424-426)ttC>ttT	p.F142F	PRSS35_ENST00000369700.3_Silent_p.F142F	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TAACCAATTTCCCTTTCAGCA	0.468000													31	29					0	0	0.000491102	0	0
CACNG7	59284	broad.mit.edu	37	19	54445412	54445412	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54445412C>T	ENST00000391767.1	+	6	905	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CACNG7_ENST00000222212.2_Silent_p.F231F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	231				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGGGCCAGTTCCTGCAGCCCG	0.657000													31	75					0	0	0.000409698	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870659	140870659	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140870659C>T	ENST00000252087.1	+	1	1852	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		618	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAGGACTGTTCCTCGT	0.602000													18	40					0	0	0.000958276	0	0
UBR1	197131	broad.mit.edu	37	15	43299340	43299340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:43299340C>T	ENST00000290650.4	-	30	3430	c.3352G>A	c.(3352-3354)Gcc>Acc	p.A1118T	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1118					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGACACAGGCCGATAATACC	0.418000													26	87					0	0	0.001512	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052888	193052888	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:193052888C>T	ENST00000342358.4	-	10	1061	c.943_splice	c.e10-1	p.G315_splice		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	315					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATACTTTCTCCTAAAGAGGA	0.398000													15	26					0	0	0.000422831	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144548	12144548	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12144548G>A	ENST00000263932.2	+	2	313	c.91G>A	c.(91-93)Gga>Aga	p.G31R	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	31					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGTCATGGAAACCCCAG	0.597000													10	61					0	0	0.000673444	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959213	143959213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:143959213G>A	ENST00000377675.3	-	4	574	c.568C>T	c.(568-570)Cct>Tct	p.P190S	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ATGCCCCCAGGGAATGGTGGG	0.517000									Familial Hyperaldosteronism type I				19	40					0	0	0.00152264	0	0
HCK	3055	broad.mit.edu	37	20	30672294	30672294	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:30672294C>T	ENST00000534862.1	+	9	1086	c.723C>T	c.(721-723)tcC>tcT	p.S241S	HCK_ENST00000538448.1_Silent_p.S240S|HCK_ENST00000375852.2_Silent_p.S261S|HCK_ENST00000518730.1_Silent_p.S239S|HCK_ENST00000375862.2_Silent_p.S260S|HCK_ENST00000520553.1_Silent_p.S240S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	261	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCGGGAATCCCTCAAGCTGG	0.607000													10	47					0	0	0.00136819	0	0
CISH	1154	broad.mit.edu	37	3	50645375	50645375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:50645375C>T	ENST00000443053.2	-	4	718	c.491G>A	c.(490-492)aGg>aAg	p.R164K	CISH_ENST00000348721.3_Missense_Mutation_p.R147K	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	147					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GATGCGTGGCCTGGACAAGCA	0.587000													10	47					0	0	0.000673444	0	0
SOGA2	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:8718506C>T	ENST00000359865.3	+	3	200	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SOGA2_ENST00000517570.1_Missense_Mutation_p.R20W|SOGA2_ENST00000306329.11_Missense_Mutation_p.R380W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R20W|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	371																	GCAGGAACTTCGGCGAGAACT	0.488000													17	42					0	0	0.00152264	0	0
GIT2	9815	broad.mit.edu	37	12	110377017	110377017	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:110377017C>A	ENST00000360185.4	-	16	1781	c.1617G>T	c.(1615-1617)gaG>gaT	p.E539D	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.E511D|GIT2_ENST00000361006.5_Missense_Mutation_p.E559D|GIT2_ENST00000551209.1_Missense_Mutation_p.E538D|GIT2_ENST00000356259.4_Missense_Mutation_p.E476D|GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000553118.1_Missense_Mutation_p.E461D|GIT2_ENST00000338373.5_Missense_Mutation_p.E491D|GIT2_ENST00000355312.3_Missense_Mutation_p.E589D|GIT2_ENST00000343646.5_Missense_Mutation_p.E479D|GIT2_ENST00000354574.4_Missense_Mutation_p.E511D			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	589					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	p.E589E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CGTAGTCACTCTCAGGTGTGC	0.567000													31	161					3.90053e-15	2.49502e-14	0.000409698	1	0
ALOX12	239	broad.mit.edu	37	17	6902045	6902045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:6902045G>A	ENST00000251535.6	+	4	484	c.431G>A	c.(430-432)tGg>tAg	p.W144*	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	144	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGGGCCACCTGGAAGGAAGGG	0.567000													7	25					0	0	0.000157383	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86844906	86844906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:86844906G>A	ENST00000395184.1	+	4	840	c.374G>A	c.(373-375)tGg>tAg	p.W125*	ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.W30*|ARHGAP24_ENST00000503995.1_Nonsense_Mutation_p.W125*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	125	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CGAGTCATATGGGGACCTTTC	0.463000													8	16					0	0	0.000673444	0	0
KCNB2	9312	broad.mit.edu	37	8	73848543	73848543	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:73848543C>T	ENST00000523207.1	+	3	1541	c.953C>T	c.(952-954)tCg>tTg	p.S318L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	318					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCAGGCATTCGACAGGCCTG	0.512000													28	36					0	0	0.000720815	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128872	3128872	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:3128872A>G	ENST00000380266.3	-	2	1166	c.845T>C	c.(844-846)gTt>gCt	p.V282A	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	282					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTAAGTGAACTAGCTGAGA	0.343000													15	83					0	0	0.000566183	0	0
INHBA	3624	broad.mit.edu	37	7	41729961	41729961	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:41729961C>T	ENST00000242208.4	-	3	814	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	INHBA_ENST00000442711.1_Missense_Mutation_p.E190K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	190					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			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						TCGGCCTCTTCCCCTGTGTCC	0.567000										TSP Lung(11;0.080)			29	42					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9059391	9059391	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9059391C>T	ENST00000397910.4	-	3	28258	c.28055G>A	c.(28054-28056)aGa>aAa	p.R9352K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9354	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAGAAATTCTAGTGATGGT	0.517000													25	44					0	0	0.000586117	0	0
SEZ6	124925	broad.mit.edu	37	17	27306729	27306729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:27306729G>A	ENST00000317338.12	-	3	1255	c.827C>T	c.(826-828)tCt>tTt	p.S276F	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.S276F|SEZ6_ENST00000360295.9_Missense_Mutation_p.S276F|SEZ6_ENST00000335960.6_Missense_Mutation_p.S276F			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	276						integral to membrane|plasma membrane		p.S276F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGGTAGACAGAGATGTAGAA	0.547000													16	20					0	0	0.00152264	0	0
RPAP1	26015	broad.mit.edu	37	15	41819387	41819387	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41819387T>C	ENST00000304330.4	-	13	1840	c.1724A>G	c.(1723-1725)cAt>cGt	p.H575R	RPAP1_ENST00000561603.1_Missense_Mutation_p.H575R	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	575						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCCAGGGAATGCCGGGCCAG	0.607000													17	30					0	0	0.000958276	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599662	161599662	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161599662G>A	ENST00000294800.3	-	3	498	c.225C>T	c.(223-225)ttC>ttT	p.F75F	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Silent_p.F75F|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.F111F|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	75	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGCGTCAATGAAGTAGCTCG	0.542000													24	88					0	0	0.00127121	0	0
TATDN2	9797	broad.mit.edu	37	3	10312420	10312420	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10312420C>T	ENST00000287652.4	+	4	2605	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	TATDN2_ENST00000448281.2_Silent_p.F518F|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	518						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTACAAAGTTCAGAAAAATTT	0.498000													10	67					0	0	0.000673444	0	0
DENND2C	163259	broad.mit.edu	37	1	115168422	115168422	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115168422G>A	ENST00000393274.1	-	4	809	c.184C>T	c.(184-186)Cct>Tct	p.P62S	DENND2C_ENST00000393277.1_Missense_Mutation_p.P62S|DENND2C_ENST00000393276.3_Missense_Mutation_p.P62S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	62										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCTATAGGATTTTTCTTA	0.388000													40	91					0	0	0.000589545	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185599530	185599530	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:185599530C>T	ENST00000314970.6	+	8	1422	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CCDC111_ENST00000503752.1_Missense_Mutation_p.S330F|CCDC111_ENST00000515774.1_Missense_Mutation_p.S201F|CCDC111_ENST00000512834.1_Missense_Mutation_p.S330F	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		330					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTTCTCTCTTCTTTGGTCAGC	0.313000													21	30					0	0	0.000295444	0	0
CCDC93	54520	broad.mit.edu	37	2	118688702	118688702	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:118688702T>A	ENST00000376300.2	-	23	1890	c.1753A>T	c.(1753-1755)Aaa>Taa	p.K585*	CCDC93_ENST00000319432.5_Nonsense_Mutation_p.K584*|HTR5BP_ENST00000434708.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	585										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTCTCATTTTGTTCTCTTGC	0.418000													71	119					0	0	0.000781405	0	0
KRT12	3859	broad.mit.edu	37	17	39021199	39021199	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:39021199C>T	ENST00000251643.4	-	3	689	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	222	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGCGCAGGGCCAGTTCATTCT	0.547000													37	54					0	0	0.00111076	0	0
DLEC1	9940	broad.mit.edu	37	3	38126833	38126833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38126833C>T	ENST00000308059.6	+	8	1351	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	DLEC1_ENST00000346219.3_Missense_Mutation_p.P444S|DLEC1_ENST00000452631.2_Missense_Mutation_p.P444S|DLEC1_ENST00000469151.1_Intron			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	444					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGTTTTTTCCCGACTGCCT	0.537000													50	55					0	0	0.000781405	0	0
GLP2R	9340	broad.mit.edu	37	17	9783799	9783799	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:9783799G>A	ENST00000262441.5	+	11	1763	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	GLP2R_ENST00000574745.1_Missense_Mutation_p.R237Q	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	417					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AAACTTATACGACTTTTCATT	0.393000													47	82					0	0	0.000680045	0	0
OR5D13	390142	broad.mit.edu	37	11	55541254	55541254	+	Missense_Mutation	SNP	C	C	T	rs150275540	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55541254C>T	ENST00000361760.1	+	1	341	c.341C>T	c.(340-342)aCt>aTt	p.T114I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGACAGAAACTTTCATGTTA	0.418000													16	48					0	0	0.000422831	0	0
FCRL5	83416	broad.mit.edu	37	1	157514647	157514647	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:157514647G>A	ENST00000361835.3	-	4	690	c.533C>T	c.(532-534)tCc>tTc	p.S178F	FCRL5_ENST00000368190.3_Missense_Mutation_p.S178F|FCRL5_ENST00000368189.3_Missense_Mutation_p.S178F|FCRL5_ENST00000368191.3_Missense_Mutation_p.S93F|FCRL5_ENST00000356953.4_Missense_Mutation_p.S178F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	178						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GACTGTATTGGAAGAAACAGG	0.398000													24	39					0	0	0.00106085	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332800	100332800	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:100332800G>A	ENST00000341853.1	-	0	1391					NR_003260.1																						TGCTGGAGAAGATGTTGCGGC	0.632000													5	43					0	0	0.00116845	0	0
RAD23A	5886	broad.mit.edu	37	19	13059531	13059531	+	Silent	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:13059531G>T	ENST00000586534.1	+	5	565	c.504G>T	c.(502-504)acG>acT	p.T168T	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Silent_p.T3T|RAD23A_ENST00000316856.3_Silent_p.T168T|RAD23A_ENST00000592268.1_Silent_p.T168T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	168	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGATGCTGACGGAGATCATGT	0.617000								Nucleotide excision repair (NER)					9	157					0.000978159	0.00617356	0.000978159	1	0
MYH6	4624	broad.mit.edu	37	14	23863420	23863420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:23863420C>T	ENST00000405093.3	-	21	2612	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	MYH6_ENST00000356287.3_Missense_Mutation_p.E848K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	848					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATCTCCTTCTCCGTCTCTGCG	0.562000													38	75					0	0	0.00148497	0	0
EGLN3	112399	broad.mit.edu	37	14	34419787	34419787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:34419787C>T	ENST00000547327.2	-	1	500	c.172G>A	c.(172-174)Gac>Aac	p.D58N	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Missense_Mutation_p.D58N			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	58					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	AGCTGGCCGTCCCGCAGGGCC	0.716000													13	15					0	0	0.00185496	0	0
COL3A1	1281	broad.mit.edu	37	2	189871091	189871091	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:189871091C>T	ENST00000304636.3	+	43	3284	c.3114C>T	c.(3112-3114)ggC>ggT	p.G1038G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1038	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAATGGCTCTCCTGGTG	0.463000													11	25					0	0	0.000978159	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608862	2608862	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:2608862G>A	ENST00000155840.5	+	9	1299	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	KCNQ1_ENST00000335475.5_Silent_p.R270R	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	397					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCTACATCCGGAAGGCCCCCC	0.637000													141	282					0	0	0.000781405	0	0
LIPE	3991	broad.mit.edu	37	19	42930801	42930801	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:42930801C>T	ENST00000244289.4	-	1	777	c.501G>A	c.(499-501)agG>agA	p.R167R	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	167					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGATGGCTCCCTTTTGGCTC	0.572000													36	78					0	0	0.00170553	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823376	38823376	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:38823376G>A	ENST00000303592.3	-	2	1020	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	254					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCGACACCAGGAAGATGCGGT	0.607000													5	41					0	0	0.00116845	0	0
FMO2	2327	broad.mit.edu	37	1	171174706	171174706	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171174706C>T	ENST00000441535.1	+	7	1233	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Silent_p.I372I|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	372					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGTCTCATCCAGCCCCTAG	0.458000													4	20					0	0	0.000602214	0	0
OR4A16	81327	broad.mit.edu	37	11	55111247	55111247	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55111247T>C	ENST00000314721.2	+	1	621	c.571T>C	c.(571-573)Tac>Cac	p.Y191H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCTTGACACCTACTTTATAGG	0.418000													7	21					0	0	0.000157383	0	0
UNC79	57578	broad.mit.edu	37	14	93990337	93990337	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:93990337C>T	ENST00000553484.1	+	8	1066	c.912C>T	c.(910-912)atC>atT	p.I304I	UNC79_ENST00000393151.2_Silent_p.I304I|UNC79_ENST00000256339.4_Silent_p.I127I|UNC79_ENST00000555664.1_Silent_p.I304I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	304						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAATCCCATCCACTGCCAGC	0.363000													17	44					0	0	0.000295444	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36375000	36375000	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:36375000G>A	ENST00000405275.2	+	5	619	c.376G>A	c.(376-378)Gat>Aat	p.D126N	CTNNBL1_ENST00000373473.1_5'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D153N			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	153					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCTCGGACACGATAATACAGA	0.507000													18	28					0	0	0.00121646	0	0
ADAM19	8728	broad.mit.edu	37	5	156915476	156915476	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:156915476G>A	ENST00000257527.4	-	21	2425	c.2347C>T	c.(2347-2349)Ctg>Ttg	p.L783L	ADAM19_ENST00000394020.1_Silent_p.L785L|ADAM19_ENST00000517905.1_Silent_p.L783L|ADAM19_ENST00000430702.2_Silent_p.L516L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	783					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTTCCGCAGGATTTCCGGA	0.582000													8	41					0	0	0.000442599	0	0
GPR141	353345	broad.mit.edu	37	7	37780209	37780209	+	Missense_Mutation	SNP	C	C	T	rs150971296	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:37780209C>T	ENST00000447769.1	+	4	503	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R72C|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	72						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGCCATTTCGCTTGACCTA	0.493000													9	13					0	0	0.000274275	0	0
SGCG	6445	broad.mit.edu	37	13	23808844	23808844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:23808844C>T	ENST00000218867.3	+	3	414	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SGCG_ENST00000537476.1_Missense_Mutation_p.S97F|SGCG_ENST00000545013.1_Missense_Mutation_p.S97F	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	97					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAAATACACTCCAGAGTGGTA	0.338000													33	91					0	0	0.000692331	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372661	151372661	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:151372661G>A	ENST00000287878.4	-	4	1033	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.L133L|PRKAG2_ENST00000433631.2_Silent_p.L53L|PRKAG2_ENST00000492843.1_Silent_p.L53L	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	177					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TAGGATTCCAGGGGAAACGTG	0.587000													36	97					0	0	0.00148497	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917681	48917681	+	Nonsense_Mutation	SNP	G	G	A	rs147499684		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48917681G>A	ENST00000311378.4	+	2	1560	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*	WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.W251*|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	344	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGACCCGCTGGCACTTCGATG	0.627000													14	52					0	0	0.000308642	0	0
INHA	3623	broad.mit.edu	37	2	220439451	220439451	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:220439451C>T	ENST00000243786.2	+	2	484	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	102					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|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|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCCAGAGGGCTGGCCCAGGA	0.617000													7	12					0	0	0.000673444	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174528	150174528	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150174528G>A	ENST00000307271.3	+	5	2232	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	553						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCATCTTTGGAGCAGACTTT	0.483000													23	73					0	0	0.000878237	0	0
SORL1	6653	broad.mit.edu	37	11	121391521	121391521	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:121391521C>T	ENST00000260197.7	+	9	1496	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	456					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTCAGGCTCCAGCCTTCACG	0.418000													15	30					0	0	0.00074312	0	0
LSM10	84967	broad.mit.edu	37	1	36859698	36859698	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:36859698G>A	ENST00000315732.2	-	2	182	c.33C>T	c.(31-33)acC>acT	p.T11T	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	11					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				TCTCAGAGATGGTCCGCTCCT	0.602000													16	30					0	0	0.000566183	0	0
DSCAML1	57453	broad.mit.edu	37	11	117321317	117321317	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:117321317C>T	ENST00000321322.6	-	20	3837	c.3836G>A	c.(3835-3837)gGg>gAg	p.G1279E	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1009E	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1219	Fibronectin type-III 4.|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCGGATCACCCCGTTGGGCTT	0.567000													17	46					0	0	0.00121646	0	0
LOXL2	4017	broad.mit.edu	37	8	23217632	23217632	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:23217632A>G	ENST00000389131.3	-	3	871	c.502T>C	c.(502-504)Ttt>Ctt	p.F168L	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	168					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAATTGTCAAATTTGAACCCA	0.488000													29	53					0	0	0.000339439	0	0
KCNIP1	30820	broad.mit.edu	37	5	170149737	170149737	+	Silent	SNP	G	G	A	rs147147696	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:170149737G>A	ENST00000328939.4	+	5	885	c.348G>A	c.(346-348)tcG>tcA	p.S116S	KCNIP1_ENST00000390656.4_Silent_p.S116S|KCNIP1_ENST00000434108.1_Silent_p.S141S|KCNIP1_ENST00000377360.4_Silent_p.S125S|KCNIP1_ENST00000520740.1_Silent_p.S88S|KCNIP1_ENST00000411494.1_Silent_p.S127S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	127	EF-hand 2.			S -> P (in Ref. 4; BAH13550).	detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.S127S(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTGTCGATTTTATTGA	0.438000													9	20					0	0	0.000978159	0	0
PLCL2	23228	broad.mit.edu	37	3	17051375	17051375	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:17051375G>A	ENST00000418129.2	+	2	624	c.159G>A	c.(157-159)aaG>aaA	p.K53K	PLCL2_ENST00000432376.1_Silent_p.K53K|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.K53K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	179	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CATCTAAGAAGGATTCTGAGA	0.408000													11	28					0	0	0.000978159	0	0
NTN4	59277	broad.mit.edu	37	12	96181188	96181188	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:96181188C>T	ENST00000343702.4	-	2	562	c.114G>A	c.(112-114)atG>atA	p.M38I	NTN4_ENST00000553059.1_Missense_Mutation_p.M38I|NTN4_ENST00000538383.1_Start_Codon_SNP_p.M1I|NTN4_ENST00000344911.4_Start_Codon_SNP_p.M1I	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	38	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAATTTCCCATCCGAGGGT	0.507000													12	60					0	0	0.000566183	0	0
COL9A3	1299	broad.mit.edu	37	20	61471991	61471991	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:61471991G>A	ENST00000343916.3	+	32	1965	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	654	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCCATTGGGGCCCAGGGGA	0.652000													9	12					0	0	0.000978159	0	0
BTBD16	118663	broad.mit.edu	37	10	124096113	124096113	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:124096113C>T	ENST00000368994.2	+	15	1622	c.1371C>T	c.(1369-1371)gcC>gcT	p.A457A	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Silent_p.A456A			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	456										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GAGCAGAGGCCCTGGTTGACG	0.547000													13	15					0	0	0.00185496	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442576	95442576	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:95442576C>T	ENST00000324972.6	+	4	485	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P81S|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P81S|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P81S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P81S|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.P81S|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P98S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	98	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCTATGTCTCCCTCCTCGAA	0.458000													13	17					0	0	0.000219431	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659854	74659854	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:74659854C>T	ENST00000268053.6	-	1	227	c.73G>A	c.(73-75)Gag>Aag	p.E25K	CYP11A1_ENST00000541301.1_Missense_Mutation_p.E25K|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	25					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCCAGCCCCTCCCTGGGGGCA	0.642000													9	32					0	0	0.000274275	0	0
BTBD16	118663	broad.mit.edu	37	10	124096114	124096114	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:124096114C>T	ENST00000368994.2	+	15	1623	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Silent_p.L457L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	457										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGCAGAGGCCCTGGTTGACGG	0.547000													13	15					0	0	0.00136819	0	0
ASXL2	55252	broad.mit.edu	37	2	25973192	25973192	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:25973192G>A	ENST00000435504.4	-	12	1526	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ASXL2_ENST00000404843.1_Silent_p.S151S|ASXL2_ENST00000336112.4_Silent_p.S383S|ASXL2_ENST00000272341.4_Silent_p.S151S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGGCATGGATTTTGGTT	0.443000													72	171					0	0	0.000781405	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	G	A	rs141559059		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143141184G>A	ENST00000332690.1	+	1	639	c.639G>A	c.(637-639)atG>atA	p.M213I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000													28	57					0	0	0.001512	0	0
TG	7038	broad.mit.edu	37	8	133900697	133900697	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:133900697C>T	ENST00000220616.4	+	10	2685	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	TG_ENST00000377869.1_Missense_Mutation_p.S882F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	882	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACCCGGGGTCCTACTCAGAC	0.552000													15	26					0	0	0.000219431	0	0
ABCC3	8714	broad.mit.edu	37	17	48733268	48733268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48733268C>T	ENST00000285238.8	+	2	201	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	ABCC3_ENST00000427699.1_Missense_Mutation_p.P41S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	41					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGCCTGGGTGCCCTGCATCTA	0.577000													27	26					0	0	0.00127121	0	0
RLF	6018	broad.mit.edu	37	1	40656510	40656510	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:40656510C>T	ENST00000372771.4	+	3	486	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	153					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.F153F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGCTACCATTCCTTCAGTCTC	0.363000													11	26					0	0	0.00136819	0	0
CD163	9332	broad.mit.edu	37	12	7640420	7640420	+	Missense_Mutation	SNP	G	G	A	rs61729511	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7640420G>A	ENST00000359156.4	-	7	1886	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	CD163_ENST00000541972.1_Missense_Mutation_p.R550C|CD163_ENST00000396620.3_Missense_Mutation_p.R562C|CD163_ENST00000432237.2_Missense_Mutation_p.R562C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	562	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTTCTGGGCGGGGTGCTACT	0.507000													9	40					0	0	0.000274275	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084142	29084142	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:29084142C>G	ENST00000306108.5	-	3	858	c.835G>C	c.(835-837)Gta>Cta	p.V279L	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	279	S-adenosyl-L-methionine binding.						tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TCTTTTCGTACCTCAAAACTT	0.318000													13	42					0	0	0.00136819	0	0
ITPR1	3708	broad.mit.edu	37	3	4829647	4829647	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:4829647G>A	ENST00000302640.8	+	51	6937	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2163Q|ITPR1_ENST00000443694.2_Missense_Mutation_p.R2196Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2148Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2196Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2163Q	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATTAGACCGAACAATGGAA	0.383000													6	17					0	0	0.000157383	0	0
ECE2	9718	broad.mit.edu	37	3	184005663	184005663	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:184005663G>A	ENST00000402825.3	+	11	1656	c.1656G>A	c.(1654-1656)acG>acA	p.T552T	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.T405T|ECE2_ENST00000357474.5_Silent_p.T480T|ECE2_ENST00000404464.3_Silent_p.T434T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	552	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCAACACGGATGACGCCC	0.522000													10	68					0	0	0.000978159	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172151	81172151	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:81172151C>T	ENST00000394685.3	+	5	755	c.336C>T	c.(334-336)gcC>gcT	p.A112A	KIAA1199_ENST00000356249.5_Silent_p.A112A|KIAA1199_ENST00000220244.3_Silent_p.A112A			Q8WUJ3	K1199_HUMAN	KIAA1199	112	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGGAGTGCCCTCTGCCCTT	0.517000													20	42					0	0	0.00188189	0	0
TXNL4A	10907	broad.mit.edu	37	18	77748263	77748263	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:77748263C>T	ENST00000269601.5	-	1	330	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.V44I|TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000591711.1_Missense_Mutation_p.V44I	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	44					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CTGTACAGGACCTCGTCCATC	0.682000													4	8					0	0	0.00116845	0	0
CELSR2	1952	broad.mit.edu	37	1	109793986	109793986	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:109793986G>T	ENST00000271332.3	+	1	1346	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	429	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGAGACAAGGGGAGCAATGC	0.577000													10	411					0.000673444	0.00425392	0.000673444	1	0
COL9A3	1299	broad.mit.edu	37	20	61471990	61471990	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:61471990G>A	ENST00000343916.3	+	32	1964	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	654	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTGCCATTGGGGCCCAGGGG	0.657000													9	11					0	0	0.000978159	0	0
ACP1	52	broad.mit.edu	37	2	272289	272289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:272289C>T	ENST00000272067.6	+	3	311	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ACP1_ENST00000272065.5_Intron|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000439645.2_Missense_Mutation_p.A72V|ACP1_ENST00000405233.1_3'UTR|ACP1_ENST00000407983.3_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	72						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		ATTCACACAGCCCATAAAGCA	0.458000													8	14					0	0	0.000157383	0	0
PSMC1	5700	broad.mit.edu	37	14	90730407	90730407	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:90730407T>G	ENST00000261303.8	+	6	591	c.488T>G	c.(487-489)cTg>cGg	p.L163R	PSMC1_ENST00000543772.2_Missense_Mutation_p.L90R	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ATAGGGGTGCTGATGGATGAC	0.498000													17	21					0	0	0.00152264	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:70064197C>T	ENST00000370598.1	+	27	4353	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_ENST00000546190.1_Missense_Mutation_p.P142S|BAI3_ENST00000238918.8_Missense_Mutation_p.P384S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTTCGTTTCCTAATGGGCA	0.383000													18	49					0	0	0.00121646	0	0
COL9A1	1297	broad.mit.edu	37	6	70944502	70944502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:70944502G>A	ENST00000357250.6	-	34	2412	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	COL9A1_ENST00000370499.4_Missense_Mutation_p.P509S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.P509S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	752	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCACCGGAGGGCCCTGGACA	0.617000													4	17					0	0	0.00024832	0	0
ARAP1	116985	broad.mit.edu	37	11	72409131	72409131	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:72409131G>A	ENST00000359373.5	-	19	3413	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.A614A|ARAP1_ENST00000393609.3_Silent_p.A854A|ARAP1_ENST00000455638.2_Silent_p.A854A|ARAP1_ENST00000429686.1_Silent_p.A548A|ARAP1_ENST00000426523.1_Silent_p.A609A|ARAP1_ENST00000334211.8_Silent_p.A609A			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	854					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAGATCCTCGGCTAGGGGAG	0.657000													78	109					0	0	0.000781405	0	0
DOCK2	1794	broad.mit.edu	37	5	169435601	169435601	+	Splice_Site	SNP	A	A	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:169435601A>G	ENST00000256935.8	+	31	3253	c.3173_splice	c.e31+1	p.K1058_splice	DOCK2_ENST00000520908.1_Splice_Site_p.K550_splice|DOCK2_ENST00000540750.1_Splice_Site_p.K119_splice|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1058	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.K1058T(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTGAATAAGTAGGTTGCA	0.468000													5	25					0	0	0.000602214	0	0
DNAH8	1769	broad.mit.edu	37	6	38825467	38825467	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:38825467C>T	ENST00000359357.3	+	40	5510	c.5256C>T	c.(5254-5256)ttC>ttT	p.F1752F	DNAH8_ENST00000449981.2_Silent_p.F1969F|DNAH8_ENST00000441566.1_Silent_p.F1752F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGTGAAGTTCGAGACTCTAA	0.323000													15	39					0	0	0.000958276	0	0
FRMD4A	55691	broad.mit.edu	37	10	13743453	13743453	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:13743453C>A	ENST00000357447.2	-	14	1230	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.G304W|FRMD4A_ENST00000378503.1_Missense_Mutation_p.G288W|FRMD4A_ENST00000358621.4_Missense_Mutation_p.G273W	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	288	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGCTGTGCCCAAACGTCCTC	0.498000													5	107					0.00116845	0.00736227	0.00116845	1	0
TAL1	6886	broad.mit.edu	37	1	47685646	47685646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:47685646C>T	ENST00000371883.3	-	4	1324	c.748G>A	c.(748-750)Gag>Aag	p.E250K	TAL1_ENST00000294339.3_Missense_Mutation_p.E248K|TAL1_ENST00000371884.2_Missense_Mutation_p.E248K|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	248					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTGCCCTCCTCCTCCTGGTCA	0.642000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								13	19					0	0	0.00136819	0	0
HARBI1	283254	broad.mit.edu	37	11	46637731	46637731	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:46637731G>A	ENST00000326737.3	-	2	304	c.57C>T	c.(55-57)caC>caT	p.H19H		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	19						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCAATGTCCGGTGACCACGGC	0.443000													31	61					0	0	0.000814825	0	0
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:37271845C>T	ENST00000373091.3	-	14	2190	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	GRIK3_ENST00000373093.4_Missense_Mutation_p.G725D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	725					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCTGGATGCCCTCCTCGTT	0.607000													14	43					0	0	0.000219431	0	0
THSD7A	221981	broad.mit.edu	37	7	11676525	11676525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:11676525C>T	ENST00000423059.3	-	2	505	c.254G>A	c.(253-255)tGg>tAg	p.W85*	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	85	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGAGCACACCACACAGCCCT	0.478000										HNSCC(18;0.044)			34	105					0	0	0.000437636	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716233	39716233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:39716233C>T	ENST00000553728.1	+	4	668	c.455C>T	c.(454-456)tCt>tTt	p.S152F	MIA2_ENST00000556784.1_Missense_Mutation_p.S151F|MIA2_ENST00000280082.3_Missense_Mutation_p.S152F																							GATGAAAAATCTAGTATATAT	0.313000													10	20					0	0	0.00136819	0	0
RBP3	5949	broad.mit.edu	37	10	48389692	48389692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:48389692G>A	ENST00000224600.4	-	1	1299	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	396	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCAAGAAGGAGTTTCTGTG	0.647000													16	21					0	0	0.000566183	0	0
DNAH10	196385	broad.mit.edu	37	12	124268613	124268613	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:124268613C>T	ENST00000409039.3	+	8	961	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	312	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAAGGAATCCGACTCCATGC	0.468000													48	71					0	0	0.000781405	0	0
CCDC135	84229	broad.mit.edu	37	16	57738858	57738858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57738858G>A	ENST00000360716.3	+	7	991	c.770G>A	c.(769-771)aGg>aAg	p.R257K	CCDC135_ENST00000336825.8_Missense_Mutation_p.R192K|CCDC135_ENST00000394337.4_Missense_Mutation_p.R257K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	257						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGCAGCAGGTTTGAGCAG	0.557000													15	31					0	0	0.000958276	0	0
KCTD19	146212	broad.mit.edu	37	16	67325353	67325353	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67325353C>T	ENST00000304372.5	-	14	2479	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	808						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAGAGAAACTCAGGAAAGTCA	0.512000													14	20					0	0	0.000308642	0	0
PCNT	5116	broad.mit.edu	37	21	47775381	47775381	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:47775381C>T	ENST00000359568.5	+	12	1883	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	592	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCTGCCACGCTTCCAGGCGG	0.572000													38	27					0	0	0.00195071	0	0
FAM83B	222584	broad.mit.edu	37	6	54791183	54791183	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54791183G>A	ENST00000306858.7	+	3	575	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	153										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTTAGTGATGGATATAT	0.313000													5	19					0	0	0.00116845	0	0
CPT1A	1374	broad.mit.edu	37	11	68542821	68542821	+	Missense_Mutation	SNP	G	G	A	rs146533704		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68542821G>A	ENST00000265641.5	-	13	1692	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	CPT1A_ENST00000540367.1_Missense_Mutation_p.P513L|CPT1A_ENST00000539743.1_Missense_Mutation_p.P513L|CPT1A_ENST00000376618.2_Missense_Mutation_p.P513L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	513					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTGGGGTACGGAATGTTCGG	0.498000													16	101					0	0	0.000422831	0	0
ASTN2	23245	broad.mit.edu	37	9	119976882	119976882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:119976882G>A	ENST00000313400.4	-	3	870	c.770C>T	c.(769-771)tCt>tTt	p.S257F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S257F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S257F			O75129	ASTN2_HUMAN	astrotactin 2	257						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAGCACAGATGGGATGTA	0.627000													20	39					0	0	0.000295444	0	0
GRB7	2886	broad.mit.edu	37	17	37899717	37899717	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:37899717C>T	ENST00000309156.4	+	6	914	c.657C>T	c.(655-657)ctC>ctT	p.L219L	GRB7_ENST00000394209.2_Silent_p.L219L|GRB7_ENST00000309185.3_Silent_p.L219L|GRB7_ENST00000445327.2_Silent_p.L242L|GRB7_ENST00000394204.1_Silent_p.L219L|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.L219L	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	219					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGAAGACCTCATCCAGGTGG	0.547000													19	54					0	0	0.00121646	0	0
KLHL6	89857	broad.mit.edu	37	3	183209862	183209862	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:183209862G>A	ENST00000341319.3	-	7	1754	c.1719C>T	c.(1717-1719)atC>atT	p.I573I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	573										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCACCGTGGCGATAACCTCGT	0.667000													23	113					0	0	0.000878237	0	0
COL4A6	1288	broad.mit.edu	37	X	107422626	107422626	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:107422626G>A	ENST00000334504.7	-	26	2407	c.2174C>T	c.(2173-2175)cCt>cTt	p.P725L	COL4A6_ENST00000372216.4_Missense_Mutation_p.P726L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P725L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P725L|COL4A6_ENST00000394872.2_Missense_Mutation_p.P726L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	726	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGGAGCCCAGGAAACCCAGG	0.507000									Alport syndrome with Diffuse Leiomyomatosis				25	12					0	0	0.001512	0	0
TRIM51	84767	broad.mit.edu	37	11	55655577	55655577	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55655577G>A	ENST00000449290.2	+	4	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E50K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	193						intracellular	zinc ion binding										TCTCCATGAAGAAGAGCAACA	0.413000													3	8					0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10400485	10400485	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10400485C>T	ENST00000226207.5	-	33	4651	c.4557G>A	c.(4555-4557)caG>caA	p.Q1519Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1519						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTGCAATCTGTTCAGTGA	0.363000													14	31					0	0	0.000308642	0	0
OR4M1	441670	broad.mit.edu	37	14	20248805	20248805	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:20248805G>A	ENST00000315957.4	+	1	405	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTTGTTGGGGCTTCGGAGA	0.478000													22	85					0	0	0.000295444	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449870	105449870	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:105449870G>A	ENST00000337685.2	+	5	1230	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E149K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E149K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	149										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGAGGAAAGGGAAAACTCAGC	0.423000													7	7					0	0	8.12818e-05	0	0
HDC	3067	broad.mit.edu	37	15	50540510	50540510	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:50540510G>A	ENST00000267845.3	-	10	1474	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	358					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAACAGAGCGAAACCGTCGG	0.547000													12	27					0	0	0.00136819	0	0
OR7D4	125958	broad.mit.edu	37	19	9324635	9324635	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9324635C>T	ENST00000308682.2	-	1	907	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CATCCTTGTTCCTCAGGCTGT	0.562000													25	56					0	0	0.00178596	0	0
SLIT3	6586	broad.mit.edu	37	5	168135017	168135017	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:168135017C>T	ENST00000519560.1	-	26	3227	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	SLIT3_ENST00000404867.3_Silent_p.V936V|CTC-558O2.1_ENST00000521870.1_RNA|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.V943V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	936	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTACAGCTCCACAGGGTCCT	0.612000													5	37					0	0	8.12818e-05	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199181	107199181	+	RNA	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:107199181G>A	ENST00000433072.2	-	0	187																											AGAGTCTCAGGGACCCTCCAG	0.607000													47	68					0	0	0.000781405	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657564	100657564	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:100657564C>T	ENST00000416321.1	-	2	267	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	89	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GTGAAACAGTCTTTGTATGTC	0.413000													48	60					0	0	0.000781405	0	0
FAM208A	23272	broad.mit.edu	37	3	56695032	56695032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:56695032C>T	ENST00000493960.2	-	10	1184	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	FAM208A_ENST00000355628.5_Missense_Mutation_p.D392N|FAM208A_ENST00000431842.2_5'UTR	NM_001112736.1	NP_001106207.1	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	392										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTTCAACATCTAATTTCTCA	0.313000													17	35					0	0	0.00074312	0	0
CDH8	1006	broad.mit.edu	37	16	61935284	61935284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:61935284C>T	ENST00000577390.1	-	3	1300	c.346G>A	c.(346-348)Gga>Aga	p.G116R	CDH8_ENST00000577730.1_Missense_Mutation_p.G116R|CDH8_ENST00000584337.1_Missense_Mutation_p.G116R|CDH8_ENST00000299345.6_Missense_Mutation_p.G116R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	116	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGATATCTCCAGTTACATCA	0.443000													21	72					0	0	0.00121646	0	0
PPP6R1	22870	broad.mit.edu	37	19	55753748	55753748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55753748C>T	ENST00000412770.2	-	6	1293	c.727G>A	c.(727-729)Gag>Aag	p.E243K	PPP6R1_ENST00000587283.1_Missense_Mutation_p.E243K	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	243	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						ACCCACTTCTCCAGGGTGGCC	0.672000													12	46					0	0	0.00136819	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:150889963C>T	ENST00000370350.3	+	3	416	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000													21	9					0	0	0.000375601	0	0
OR52N5	390075	broad.mit.edu	37	11	5799130	5799130	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5799130C>T	ENST00000317093.2	-	1	767	c.735G>A	c.(733-735)aaG>aaA	p.K245K	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCTGAAAGCCTTCTGCCGAG	0.463000													5	20					0	0	0.000602214	0	0
KRT6A	3853	broad.mit.edu	37	12	52882228	52882228	+	Silent	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:52882228C>T	ENST00000330722.6	-	7	1376	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	436	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTGGCCTTCTGCAGGG	0.622000													21	106					0	0	0.000375601	0	0
C1orf87	127795	broad.mit.edu	37	1	60491080	60491080	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:60491080C>T	ENST00000371201.3	-	8	1227	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	C1orf87_ENST00000450089.2_Missense_Mutation_p.E145K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	374							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACTTTATTTCATTTTGGTAA	0.378000													15	65					0	0	0.000566183	0	0
C16orf46	123775	broad.mit.edu	37	16	81094907	81094907	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:81094907G>A	ENST00000378611.4	-	3	1162	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	C16orf46_ENST00000299578.5_Silent_p.I349I|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	349										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTTTCGGGTGATCACAGGAG	0.512000													32	102					0	0	0.00170553	0	0
RNF152	220441	broad.mit.edu	37	18	59483351	59483351	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:59483351C>T	ENST00000312828.3	-	2	1445	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	116					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CAGCCCATGTCTCCGGGCAGC	0.637000													10	33					0	0	0.000978159	0	0
S100A7	6278	broad.mit.edu	37	1	153431448	153431448	+	Silent	SNP	G	G	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:153431448G>A	ENST00000368723.3	-	2	152	c.42C>T	c.(40-42)atC>atT	p.I14I	S100A7_ENST00000368722.1_Silent_p.I14I	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	14	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAACATGTCGATCATGCCTA	0.418000													22	104					0	0	0.000295444	0	0
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													7	375	---	---	---	---					
CHST13	166012	broad.mit.edu	37	3	126261331	126261331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:126261331delC	ENST00000319340.2	+	3	986	c.936delC	c.(934-936)agfs	p.S312fs		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	312					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGGACATCAGCCCCTTCTACC	0.697													2	4	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130788794	130788794	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:130788794delA	ENST00000509018.1	-	21	3358	c.3153delT	c.(3151-3153)gtfs	p.V1051fs	RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.V1056fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.V1051fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.V1051fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.V1101fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.V1051fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.V766fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1051	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAGTCATTCGAACAACTTGGC	0.353													13	71	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													7	74	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857496	113857496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113857496delC	ENST00000355556.2	+	7	1213	c.980delC	c.(979-981)gcfs	p.A327fs	HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.A321fs|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Intron	NM_213621.3	NP_998786.2	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GAGAAACCCGCCCCCTCCCAC	0.597													45	66	---	---	---	---					
EEA1	8411	broad.mit.edu	37	12	93213195	93213216	+	Frame_Shift_Del	DEL	AATATTTTCTTTACTCTTCTGT	AATATTTTCTTTACTCTTCTGT	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:93213195_93213216delAATATTTTCTTTACTCTTCTGT	ENST00000322349.8	-	14	1860_1881	c.1596_1617delACAGAAGAGTAAAGAAAATATT	c.(1594-1617)ttfs	p.LQKSKENI532fs		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	532	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	p.I539T(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTAGTAATGAAATATTTTCTTTACTCTTCTGTAATAAAGCTT	0.329													12	41	---	---	---	---					
ILF2P2	644616	broad.mit.edu	37	14	36524498	36524498	+	RNA	DEL	T	T	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:36524498delT	ENST00000550089.1	+	0	417																											GGGCCTCTTCTGGAACCAAAG	0.542													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													3	3	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	2	---	---	---	---					
