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
NR5A2	2494	broad.mit.edu	37	1	200017398	200017398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:200017398G>T	ENST00000367362.3	+	5	808	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NR5A2_ENST00000236914.3_Missense_Mutation_p.A142S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A116S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	188					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTCATCCGAGCCAATGGACT	0.502000													37	141					1.57351e-24	2.07903e-24	1	1	0
FLG	2312	broad.mit.edu	37	1	152280015	152280015	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152280015G>A	ENST00000368799.1	-	3	7382	c.7347C>T	c.(7345-7347)agC>agT	p.S2449S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2449	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)			AGTGCCTGGAGCTGTCTCGTG	0.592000									Ichthyosis				166	276					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25256172	25256172	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:25256172G>T	ENST00000399916.1	-	2	668	c.230C>A	c.(229-231)gCa>gAa	p.A77E	RUNX3_ENST00000338888.3_Missense_Mutation_p.A77E|RUNX3_ENST00000308873.6_Missense_Mutation_p.A63E	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	63	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGCTCGCCTGCGTGGTCCGC	0.731000													4	16					0.000602214	0.00061809	1	1	0
CA11	770	broad.mit.edu	37	19	49142821	49142821	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:49142821G>C	ENST00000084798.4	-	6	1304	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	209						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TAGGAGATGCGAGTGATGGTG	0.577000													9	33					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516083	140516083	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516083C>A	ENST00000231134.5	+	1	1284	c.1067C>A	c.(1066-1068)cCa>cAa	p.P356Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		356	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTACCCCAGAAAATGCC	0.527000													52	53					1.91693e-13	2.27076e-13	1	1	0
APOLD1	81575	broad.mit.edu	37	12	12940571	12940571	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:12940571A>T	ENST00000356591.4	+	2	817	c.732A>T	c.(730-732)gcA>gcT	p.A244A	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.A275A	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	275					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		ACCAGCGTGCAGGGCTGTTTT	0.552000													39	43					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952426	141952426	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:141952426C>T	ENST00000552471.1	-	4	761	c.442G>A	c.(442-444)Gag>Aag	p.E148K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E148K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	148	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAATCGGGCTCTTTGTCTAAA	0.353000													36	114					0	0	1	0	0
SNORD113-4	767564	broad.mit.edu	37	14	101402883	101402883	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:101402883T>C	ENST00000364802.1	+	0	56					NR_003232.1																						ATTAAACCCATATGCAATTCT	0.378000													83	49					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555480	50555480	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50555480G>T	ENST00000267845.3	-	2	558	c.156C>A	c.(154-156)gaC>gaA	p.D52E	HDC_ENST00000543581.1_Missense_Mutation_p.D52E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	52					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)	TGTCCCAGCTGTCGGGGTCCT	0.597000													29	106					2.46105e-21	3.17977e-21	1	1	0
SHBG	6462	broad.mit.edu	37	17	7534132	7534132	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7534132G>T	ENST00000380450.4	+	3	369	c.338G>T	c.(337-339)tGg>tTg	p.W113L	SHBG_ENST00000576728.1_Missense_Mutation_p.W55L|SHBG_ENST00000574539.1_Missense_Mutation_p.W55L|SHBG_ENST00000572182.1_Missense_Mutation_p.W55L|SHBG_ENST00000576478.1_Missense_Mutation_p.W55L|SHBG_ENST00000575314.1_Missense_Mutation_p.W55L|SHBG_ENST00000570547.1_Missense_Mutation_p.W55L|SHBG_ENST00000416273.3_Missense_Mutation_p.W113L|SHBG_ENST00000575903.1_Missense_Mutation_p.W113L|SHBG_ENST00000572262.1_Missense_Mutation_p.W55L|SHBG_ENST00000441599.2_Missense_Mutation_p.W113L|SHBG_ENST00000340624.5_Missense_Mutation_p.W55L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	113	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	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)	CACAATCACTGGGCCCAGCTT	0.567000													53	21					8.44121e-28	1.14113e-27	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39924301	39924301	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:39924301C>T	ENST00000303538.8	-	6	1134	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PDS5A_ENST00000503396.1_Missense_Mutation_p.D199N	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	199					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTAACTCCATCACCTTCCATG	0.318000													5	21					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198740	170198740	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:170198740A>G	ENST00000231706.4	-	7	1646	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	444						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTCCTCAGACAAGAACTTGAC	0.517000													7	62					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868868	58868868	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58868868G>T	ENST00000311044.3	-	3	322	c.134C>A	c.(133-135)aCg>aAg	p.T45K	ZNF497_ENST00000425453.3_Missense_Mutation_p.T45K|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGAACCTCCGTGGAGTTTTC	0.706000													9	24					3.86212e-05	4.04933e-05	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3686664	3686664	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:3686664C>T	ENST00000344754.4	-	3	432	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A145T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	145	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGGGAGGCAATGGTGGGC	0.627000													14	42					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105821188	105821188	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105821188C>G	ENST00000353479.5	-	13	1244	c.954G>C	c.(952-954)gtG>gtC	p.V318V	COL17A1_ENST00000369733.3_Silent_p.V318V|COL17A1_ENST00000393211.3_Silent_p.V318V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	318	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGCCAGTGTTCACAGCCGCAG	0.577000													14	14					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648077	150648077	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:150648077G>A	ENST00000392968.2	-	6	2909	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	KCNH2_ENST00000262186.5_Silent_p.L693L|KCNH2_ENST00000430723.3_Silent_p.L693L|KCNH2_ENST00000330883.4_Silent_p.L353L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	693					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CGCTGGCGCAGGGGATTGGGG	0.652000													27	37					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507723	155507723	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:155507723G>T	ENST00000302053.3	-	5	936	c.858C>A	c.(856-858)ccC>ccA	p.P286P	FGA_ENST00000403106.3_Silent_p.P286P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	286					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAGGGTTCCTGGGGCTTTCCG	0.552000													19	105					2.94398e-08	3.23174e-08	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16339781	16339781	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16339781T>C	ENST00000400202.1	-	3	1445	c.733A>G	c.(733-735)Agc>Ggc	p.S245G	NRIP1_ENST00000400199.1_Missense_Mutation_p.S245G|NRIP1_ENST00000318948.4_Missense_Mutation_p.S245G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	245	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCACCATGCTTGCAACAGCC	0.473000													75	195					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95897703	95897703	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:95897703G>C	ENST00000520509.1	-	8	936	c.684C>G	c.(682-684)ctC>ctG	p.L228L	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L|CCNE2_ENST00000308108.4_Silent_p.L228L			O96020	CCNE2_HUMAN	cyclin E2	228					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATATAATGAGTTCCATCC	0.299000													38	112					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360894	10360894	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:10360894G>A	ENST00000255381.2	-	16	1850	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	580	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACCAGTGAGAAGTGAGCCT	0.532000													108	61					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78774046	78774046	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:78774046G>C	ENST00000545128.1	+	12	2116	c.1578G>C	c.(1576-1578)ctG>ctC	p.L526L	PCSK5_ENST00000376767.3_Silent_p.L526L|PCSK5_ENST00000376752.4_Silent_p.L526L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	526	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATCTACCTGACCTCGCCCT	0.577000													23	43					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283199	152283199	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152283199C>A	ENST00000368799.1	-	3	4198	c.4163G>T	c.(4162-4164)cGa>cTa	p.R1388L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1388	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)			ACTGGACCCTCGGTGTCCACT	0.562000									Ichthyosis				43	487					1.00953e-15	1.2334e-15	1	1	0
SPOP	8405	broad.mit.edu	37	17	47700159	47700159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:47700159G>A	ENST00000393331.3	-	4	484	c.14C>T	c.(13-15)cCa>cTa	p.P5L	SPOP_ENST00000347630.2_Missense_Mutation_p.P5L|SPOP_ENST00000503676.1_Missense_Mutation_p.P5L|SPOP_ENST00000393328.2_Missense_Mutation_p.P5L|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.P5L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	5					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGGAGGACTTGGAACCCTTGA	0.493000										Prostate(2;0.17)			4	104					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472073	25472073	+	RNA	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:25472073C>G	ENST00000453082.2	+	0	1115					NR_003343.1																						AGATGGTGACCCCGGAGGAAA	0.617000													5	13					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013014	142013014	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142013014C>A	ENST00000390357.3	+	0	8																											GTCAGAGGCCCCATCTCAGAC	0.577000													29	33					1.99505e-19	2.53285e-19	1	1	0
AASDH	132949	broad.mit.edu	37	4	57204793	57204793	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:57204793C>A	ENST00000205214.6	-	15	3252	c.3072G>T	c.(3070-3072)ccG>ccT	p.P1024P	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Silent_p.P924P|AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.P539P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1024					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGAAAGCAAACGGTGTTGCAT	0.408000													26	67					1.77063e-15	2.14979e-15	1	1	0
SURF6	6838	broad.mit.edu	37	9	136199074	136199074	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:136199074C>T	ENST00000372022.4	-	5	982	c.717G>A	c.(715-717)ctG>ctA	p.L239L	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	239						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGCGCTCCAGCAGCTGCCGGT	0.672000													28	67					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51617248	51617248	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:51617248G>T	ENST00000522124.1	+	16	1788	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	SNTG1_ENST00000518864.1_Missense_Mutation_p.S376I|SNTG1_ENST00000517473.1_Missense_Mutation_p.S376I|SNTG1_ENST00000276467.5_Missense_Mutation_p.S376I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	376	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAGCTGGAAAGTGACCTCGCC	0.557000													20	48					5.03518e-11	5.78848e-11	1	1	0
PRPF40A	55660	broad.mit.edu	37	2	153519208	153519208	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:153519208C>A	ENST00000410080.1	-	21	2772	c.2231G>T	c.(2230-2232)cGt>cTt	p.R744L		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	771	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AAATCTCTCACGGATCTGAAA	0.294000													8	28					7.48243e-07	8.06225e-07	1	1	0
F2RL3	9002	broad.mit.edu	37	19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657000													9	24					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100916302	100916302	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100916302C>T	ENST00000393437.3	-	5	1783	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E139K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	382					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						TTTTTATCCTCTTCAAAGTGT	0.428000													34	110					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154593115	154593115	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:154593115A>T	ENST00000404039.1	+	13	1745	c.1158A>T	c.(1156-1158)agA>agT	p.R386S	DPP6_ENST00000427557.1_Missense_Mutation_p.R343S|DPP6_ENST00000332007.3_Missense_Mutation_p.R388S|DPP6_ENST00000377770.3_Missense_Mutation_p.R450S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	450					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTCATCAGAGCCATCCCCC	0.483000													4	12					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960499	73960499	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:73960499A>G	ENST00000373468.1	-	3	4544	c.3893T>C	c.(3892-3894)aTg>aCg	p.M1298T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.M1298T			Q5QGS0	K2022_HUMAN	KIAA2022	1298					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTGGTGCCCATGCTCATATC	0.527000													30	18					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521072	131521072	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:131521072C>G	ENST00000423981.1	+	2	1537	c.1427C>G	c.(1426-1428)cCt>cGt	p.P476R	AMER3_ENST00000321420.4_Missense_Mutation_p.P476R	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																		GCACCAGGCCCTGACCTGCTC	0.637000													15	29					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942176	6942176	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:6942176G>T	ENST00000308027.6	+	3	1357	c.1049G>T	c.(1048-1050)aGc>aTc	p.S350I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	350						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATGATAGAGAGCATCGGGGGG	0.577000													94	79					1.09905e-38	1.51378e-38	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22362826	22362826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22362826C>A	ENST00000397121.2	-	3	2010	c.1693G>T	c.(1693-1695)Gaa>Taa	p.E565*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.378000													32	60					8.88839e-20	1.1309e-19	1	1	0
FAM196A	642938	broad.mit.edu	37	10	128973751	128973751	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:128973751A>T	ENST00000522781.1	-	4	1464	c.909T>A	c.(907-909)acT>acA	p.T303T	FAM196A_ENST00000424811.2_Silent_p.T303T|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	303										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGCCAGGGCAGTTTCCGAGG	0.667000													25	46					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089061	220089061	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:220089061T>C	ENST00000366926.3	-	4	1349	c.1188A>G	c.(1186-1188)ttA>ttG	p.L396L	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L151L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	396	Poly-Leu.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGAGCAACAGTAAGTCCTTCT	0.532000													57	57					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29153084	29153084	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:29153084A>C	ENST00000216027.3	+	6	700	c.635A>C	c.(634-636)aAg>aCg	p.K212T	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	212					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GAAGAAGCCAAGGAAATTTTG	0.323000													82	167					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325343	9325343	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9325343G>A	ENST00000308682.2	-	1	199	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	57					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						AGTACATGGGGGTGTGGAGGT	0.557000													30	81					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100189	168100189	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:168100189G>C	ENST00000409195.1	+	9	2376	c.2287G>C	c.(2287-2289)Gaa>Caa	p.E763Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E541Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E763Q|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	588					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGACGTTGAAAAGGGAGA	0.363000													5	77					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052728	177052728	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177052728A>C	ENST00000393643.2	+	7	1189	c.937A>C	c.(937-939)Aat>Cat	p.N313H	WDR17_ENST00000507824.2_Missense_Mutation_p.N320H|WDR17_ENST00000280190.4_Missense_Mutation_p.N337H|WDR17_ENST00000508596.1_Missense_Mutation_p.N313H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	337										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCAACCAAAAATCATTATAC	0.343000													32	94					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272550	167272550	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:167272550T>A	ENST00000308378.3	-	6	993	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	WDR49_ENST00000476376.1_Missense_Mutation_p.N55Y|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.N283Y	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	230										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCCCAACATTTAGTGTATGG	0.368000													35	112					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:44561319T>C	ENST00000332567.4	-	1	669	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652000													71	58					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122107361	122107361	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122107361G>A	ENST00000355329.3	-	1	199	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	10										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAGGGACTCCGACTTTTTTGG	0.617000													11	132					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127217	47127217	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47127217G>A	ENST00000291294.2	-	2	399	c.266C>T	c.(265-267)cCc>cTc	p.P89L	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P89L|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	89					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCACAGGGCGGGGCCGCCTCG	0.701000													5	9					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241261	109241261	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109241261G>T	ENST00000370021.1	+	6	898	c.261G>T	c.(259-261)atG>atT	p.M87I	PRPF38B_ENST00000370025.4_Missense_Mutation_p.M198I			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	198					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GCTGTGTAATGACCATTGGAG	0.373000													19	46					5.26018e-13	6.20595e-13	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949813	27949813	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:27949813C>A	ENST00000379992.2	-	6	1306	c.857G>T	c.(856-858)aGc>aTc	p.S286I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S286I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	286						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTCAATAGTGCTGATGGGATT	0.507000													38	39					9.45814e-24	1.24125e-23	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80704456	80704456	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:80704456G>C	ENST00000458043.2	+	29	3378	c.3372G>C	c.(3370-3372)aaG>aaC	p.K1124N	OTOGL_ENST00000547103.1_Missense_Mutation_p.K1124N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTATGCCAAGAAAGAATGCT	0.333000													5	51					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563199	125563199	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125563199A>T	ENST00000277309.2	+	1	830	c.798A>T	c.(796-798)cgA>cgT	p.R266R		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCACATCCCGACGCGAGGCAG	0.602000													45	124					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50142980	50142980	+	Splice_Site	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:50142980A>G	ENST00000347869.3	+	10	869		c.e10-1			NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTACCCCTAGCGATCATTC	0.443000													58	76					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182791	157182791	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:157182791G>A	ENST00000339562.4	-	7	1773	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	NR4A2_ENST00000426264.1_Missense_Mutation_p.H408Y|NR4A2_ENST00000539077.1_Missense_Mutation_p.H482Y|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.H471Y	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	471					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGCAACCTGTGCAAGACCACC	0.453000													21	47					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63164373	63164373	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:63164373G>A	ENST00000449996.3	+	8	628	c.556G>A	c.(556-558)Gca>Aca	p.A186T	RGS9_ENST00000262406.9_Missense_Mutation_p.A186T|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.A186T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	186					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGGAGAAGGCATACTGGCT	0.562000													3	26					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3155075	3155075	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:3155075C>G	ENST00000400569.3	-	11	1846	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.E505Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.E505Q			P52179	MYOM1_HUMAN	myomesin 1	505						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTCAATCTCTGCATCAGCA	0.527000													26	17					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148737	69148737	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:69148737C>T	ENST00000306560.1	+	4	1386	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.L410L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGAACATTCTCCTCTTCCTGC	0.547000													49	130					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18907342	18907342	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:18907342G>C	ENST00000388995.6	-	2	236	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q5E|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q5E|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	5										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CACTGCACCTGAGAGAAGGCC	0.692000													4	57					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216214289	216214289	+	Missense_Mutation	SNP	G	G	T	rs149999349		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:216214289G>T	ENST00000435675.1	+	15	2078	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	ATIC_ENST00000236959.9_Missense_Mutation_p.G564C|ATIC_ENST00000540518.1_Missense_Mutation_p.G505C			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	564					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.G564S(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GGCTCCCTCCGGTTCTGCTGC	0.483000			T	ALK	ALCL								28	68					7.65355e-07	8.23145e-07	1	1	0
MAP2	4133	broad.mit.edu	37	2	210558199	210558199	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:210558199T>A	ENST00000360351.4	+	7	1811	c.1305T>A	c.(1303-1305)ctT>ctA	p.L435L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L431L|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	435					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACCTATACTTACTGAAAAGG	0.428000													4	83					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496319	76496319	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76496319C>G	ENST00000388942.3	+	11	1535	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	420						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAGCCGTCCTCTGAGCCCGGC	0.701000													9	24					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73929084	73929084	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73929084C>G	ENST00000586717.1	-	4	390	c.117G>C	c.(115-117)gcG>gcC	p.A39A	FBF1_ENST00000389570.4_Silent_p.A39A|FBF1_ENST00000319129.5_Silent_p.A39A			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	39										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTTTGTTCTCGCCTTTGAAG	0.473000													21	21					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210184	100210184	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:100210184A>T	ENST00000317233.4	-	14	2174	c.1939T>A	c.(1939-1941)Tgc>Agc	p.C647S	AFF3_ENST00000409579.1_Missense_Mutation_p.C672S|AFF3_ENST00000356421.2_Missense_Mutation_p.C672S|AFF3_ENST00000409236.1_Missense_Mutation_p.C647S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	647					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGCTTCTCGCAGGTCACGGAG	0.637000													32	46					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018796	62018796	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:62018796C>T	ENST00000578147.1	-	24	4922	c.4846G>A	c.(4846-4848)Gac>Aac	p.D1616N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1616N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1616					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)	ATCTCAAAGTCATCTTCACCA	0.547000													29	140					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23509711	23509711	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23509711C>T	ENST00000258729.3	-	1	375	c.19G>A	c.(19-21)Gga>Aga	p.G7R		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	7	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTGAGGTTTCCGATATACAGT	0.478000													48	102					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124584	46124584	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:46124584C>G	ENST00000536630.1	-	14	1582	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	EML2_ENST00000587152.1_Missense_Mutation_p.E536Q|EML2_ENST00000245925.3_Missense_Mutation_p.E335Q|EML2_ENST00000589876.1_Missense_Mutation_p.E335Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	335					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAAAGTCCTCAGGGACCTGG	0.632000													5	87					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853584	2853584	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:2853584C>G	ENST00000334241.4	+	4	1659	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.L506L	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CAGAGAAACTCTATAAATGCA	0.408000													26	87					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	G	rs148031312		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5079889C>G	ENST00000321522.2	-	1	968	c.969G>C	c.(967-969)acG>acC	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000													21	30					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70048882	70048882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:70048882C>A	ENST00000370598.1	+	25	4084	c.3263C>A	c.(3262-3264)tCa>tAa	p.S1088*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.S52*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.S294*	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1088					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)				ACAGCTTTGTCAGCCACCACC	0.418000													65	120					3.36121e-32	4.58632e-32	1	1	0
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAGCAGCCTCTGGCATTCTG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			154	92					3.11347e-79	4.33953e-79	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71802361	71802361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:71802361C>A	ENST00000373545.3	-	31	3697	c.3259G>T	c.(3259-3261)Gaa>Taa	p.E1087*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E1057*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E1146*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E1116*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E1129*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1129					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)					AGGATGGCTTCAACCAGCAGC	0.443000													6	28					0.0293803	0.029583	1	1	0
TSPAN5	10098	broad.mit.edu	37	4	99408023	99408023	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:99408023T>G	ENST00000305798.3	-	3	547	c.145A>C	c.(145-147)Aac>Cac	p.N49H	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	49						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GAAGAGATGTTGGACAGAACT	0.498000													24	80					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499042	142499042	+	RNA	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142499042G>A	ENST00000466254.1	+	0	318																											CTCGGAGAATGACGAGTGGAC	0.632000													29	186					0	0	1	0	0
AD000671.6	0	broad.mit.edu	37	19	36236089	36236089	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:36236089C>G	ENST00000589807.1	-	2	109	c.69G>C	c.(67-69)aaG>aaC	p.K23N	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.K23N|PSENEN_ENST00000587708.2_5'UTR|U2AF1L4_ENST00000412391.2_Missense_Mutation_p.K23N|U2AF1L4_ENST00000588100.1_Splice_Site|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.K23N																							AGACCCCGATCTTAAAGTAAA	0.617000													6	58					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87446152	87446152	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:87446152G>C	ENST00000268616.4	-	12	1981	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	588					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GACCAAAGGAGACTGTGGGTG	0.647000													4	62					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94937343	94937343	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:94937343G>A	ENST00000222381.3	-	6	909	c.678C>T	c.(676-678)atC>atT	p.I226I	PON1_ENST00000542556.1_Silent_p.I226I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	226					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTGAAATGTTGATTCCATTAG	0.383000													32	121					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986156	89986156	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:89986156G>A	ENST00000555427.1	+	3	2793	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	MC1R_ENST00000555147.1_Missense_Mutation_p.A164T|TUBB3_ENST00000556922.1_Missense_Mutation_p.A164T					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCGCGGCGAGCCGTTGCGGC	0.647000									Melanoma, Familial Clustering of				25	43					0	0	1	0	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389885	52389885	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:52389885T>C	ENST00000443374.1	+	0	578																											ATTCAGTATGTATGCTGGGTC	0.403000													8	24					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828974	76828974	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:76828974C>T	ENST00000248598.5	-	1	169	c.137G>A	c.(136-138)aGa>aAa	p.R46K	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	46					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCATTTCCCTCTGCTTTCTAG	0.498000													12	151					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294539	114294539	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:114294539G>A	ENST00000357077.4	+	45	11846	c.11793G>A	c.(11791-11793)gaG>gaA	p.E3931E	ANK2_ENST00000264366.6_Silent_p.E3898E|ANK2_ENST00000509550.1_Silent_p.E1022E|ANK2_ENST00000394537.3_Silent_p.E1846E|ANK2_ENST00000506722.1_Silent_p.E1837E|ANK2_ENST00000510275.2_Silent_p.E529E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3898					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)		TCAACATCGAGGAAGGGGATG	0.443000													31	79					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73830425	73830425	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:73830425C>T	ENST00000264448.6	+	21	12464	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S4076F|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4118					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTCAGAGGTCCAAACGGTAA	0.443000													30	83					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105507375	105507375	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:105507375G>A	ENST00000276654.5	-	6	1751	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S529L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	548					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGTCCATACGAGGGAGGAGC	0.363000													40	88					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090211	238090211	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:238090211C>A	ENST00000450451.1	+	0	1717					NR_027247.2																						ACGATGCCCCCCAAGCTGTGT	0.597000													10	8					2.17888e-05	2.29273e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141806652	141806652	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141806652G>T	ENST00000389484.3	-	11	2663	c.1692C>A	c.(1690-1692)caC>caA	p.H564Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	564					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)		TGGTTTCTGCGTGAAAGTCTA	0.433000										TSP Lung(27;0.18)			68	160					1.76847e-28	2.39626e-28	1	1	0
WDR96	80217	broad.mit.edu	37	10	105956620	105956620	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105956620C>G	ENST00000357060.3	-	10	1399	c.1284G>C	c.(1282-1284)ctG>ctC	p.L428L	WDR96_ENST00000428666.1_Silent_p.L429L|WDR96_ENST00000278064.2_Silent_p.L359L|WDR96_ENST00000369720.1_Silent_p.L359L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	428										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTAGGGTATTCAGATAAATCT	0.303000													4	65					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402522	248402522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:248402522G>T	ENST00000306687.1	+	1	292	c.292G>T	c.(292-294)Gga>Tga	p.G98*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAGGTTGTGGAACTCAGAT	0.463000													53	60					2.74695e-27	3.6794e-27	1	1	0
AGAP1	116987	broad.mit.edu	37	2	236957875	236957875	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957875C>A	ENST00000409538.1	+	15	3196	c.2700C>A	c.(2698-2700)gtC>gtA	p.V900V	AGAP1_ENST00000304032.7_Silent_p.V688V|AGAP1_ENST00000428334.2_Silent_p.V527V|AGAP1_ENST00000336665.5_Silent_p.V635V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	688					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAACAGCGTCTGGGAAGAGA	0.572000													30	68					5.77227e-19	7.28079e-19	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241465791	241465791	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:241465791C>A	ENST00000391987.1	-	6	1124	c.758G>T	c.(757-759)tGt>tTt	p.C253F	ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.C342F|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.C253F			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	253							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGGGCCCACAGGGTGCAAA	0.532000													40	53					2.54651e-27	3.42664e-27	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350944	50350944	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50350944C>T	ENST00000376020.2	-	6	3223	c.3198G>A	c.(3196-3198)gcG>gcA	p.A1066A	SHROOM4_ENST00000289292.7_Silent_p.A1066A|SHROOM4_ENST00000460112.3_Silent_p.A950A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1066					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.A1066A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGCTTTGGGGCGCCAAGCTGA	0.587000													23	16					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134087	94134087	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:94134087G>A	ENST00000243673.2	-	1	498	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GPR83_ENST00000539203.2_Silent_p.F109F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	109						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTTGACGATGAAGAGGCTGG	0.547000													6	20					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814789	137814789	+	Silent	SNP	G	G	A	rs138056559		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:137814789G>A	ENST00000367734.2	-	1	742	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTTGGCCGCGTGCGCGGGGT	0.701000													7	24					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440330	49440330	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49440330G>C	ENST00000374201.3	-	10	1298	c.996C>G	c.(994-996)acC>acG	p.T332T	FRMPD2_ENST00000305531.3_Silent_p.T308T|FRMPD2_ENST00000407470.4_Silent_p.T301T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	332					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCCCTTTTTTGGTCTGAAAAC	0.423000													11	27					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108298048	108298048	+	Splice_Site	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:108298048C>T	ENST00000370056.4	-	12	1448		c.e12+1		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAATTACATACCAAATTCTCT	0.368000													10	15					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91084308	91084308	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:91084308C>G	ENST00000357056.2	-	16	1954	c.1833G>C	c.(1831-1833)caG>caC	p.Q611H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.Q611H			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	611							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATTTCCATATCTGCAGCATGT	0.547000													28	65					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43678106	43678106	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:43678106G>C	ENST00000564079.1	+	8	1081	c.841G>C	c.(841-843)Gaa>Caa	p.E281Q	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E145Q|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E281Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	281					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTTGTTGGAGAATCTGTCCA	0.418000													7	68					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21399853	21399853	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:21399853G>C	ENST00000313654.9	+	19	2437	c.2196G>C	c.(2194-2196)gaG>gaC	p.E732D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E732D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	732					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAGTATGAGATTGAAGACG	0.413000													35	66					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:31769759C>G	ENST00000240587.4	-	2	1267	c.940G>C	c.(940-942)Gcc>Ccc	p.A314P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537000													38	68					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55454021	55454021	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:55454021G>T	ENST00000360586.3	-	14	1676	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A	WDHD1_ENST00000420358.2_Silent_p.A414A|WDHD1_ENST00000421192.1_Silent_p.A414A|WDHD1_ENST00000359167.4_Silent_p.A55A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	537						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						CGAGACATATGGCTTCAATAT	0.438000													29	81					3.67414e-24	4.83265e-24	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112476784	112476784	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112476784T>C	ENST00000230538.7	-	15	2339	c.1942A>G	c.(1942-1944)Act>Gct	p.T648A	LAMA4_ENST00000522006.1_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.T641A|LAMA4_ENST00000424408.2_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	648	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTCGGTCAGTGGTGTTCAAA	0.388000													48	66					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947364	150947364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:150947364G>A	ENST00000261800.5	-	1	1141	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	377	Cadherin 3.				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)			CGGCTGCCAGGAGGGGAAAAC	0.488000													29	36					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115389479	115389479	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:115389479G>A	ENST00000369358.4	-	19	2176	c.1932C>T	c.(1930-1932)aaC>aaT	p.N644N	NRAP_ENST00000360478.3_Silent_p.N601N|NRAP_ENST00000359988.3_Silent_p.N636N|NRAP_ENST00000369360.3_Silent_p.N609N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	636						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATGCCTGATGTTTACCATAT	0.443000													50	59					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140267956	140267956	+	Translation_Start_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:140267956C>A	ENST00000342129.4	-	0	411				EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000340951.4_Missense_Mutation_p.E72D|EXD3_ENST00000479452.1_Missense_Mutation_p.E72D			Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGAGGGGCCCTCTCCCCGCT	0.701000													5	14					0.014758	0.014937	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51612708	51612708	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51612708G>C	ENST00000371117.3	-	58	9981	c.9706C>G	c.(9706-9708)Cca>Gca	p.P3236A	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3236A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCCTCTTGGATTGGAGGGA	0.478000													36	44					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83552538	83552538	+	Missense_Mutation	SNP	C	C	G	rs150319742	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:83552538C>G	ENST00000319540.4	-	5	1254	c.935G>C	c.(934-936)cGg>cCg	p.R312P		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	312					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTTGGTTGCCCGTTTGCGGTC	0.547000													14	24					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736137	158736137	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158736137G>C	ENST00000335094.2	-	1	355	c.336C>G	c.(334-336)tgC>tgG	p.C112W		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCAGGAGATAGCACTCAGTCG	0.498000													12	51					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710753	106710753	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:106710753G>T	ENST00000265717.4	+	2	594	c.335G>T	c.(334-336)cGt>cTt	p.R112L	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	112	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|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R112H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTCACAAGGCGTGCCTCAGGT	0.303000													30	117					6.90743e-12	8.03573e-12	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777747	43777747	+	Silent	SNP	T	T	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777747T>G	ENST00000389420.3	-	30	4485	c.4486A>C	c.(4486-4488)Agg>Cgg	p.R1496R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12.					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)		TATACATCCCTCTGCTGAACT	0.438000													30	26					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574491	135574491	+	Missense_Mutation	SNP	C	C	T	rs146164598		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:135574491C>T	ENST00000370648.3	+	3	1385	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	386					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGTGTGACCTCGTTCACTGGG	0.527000													6	44					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249793	110249793	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:110249793G>A	ENST00000374672.4	-	3	1355	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	294	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCATTGCTGAGAGGGGGTC	0.692000													7	14					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44448933	44448933	+	Splice_Site	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:44448933G>A	ENST00000342649.4	+	11	1677		c.e11-1		TCAIM_ENST00000417237.1_Splice_Site	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		CTATATAATAGGTTAAAGGTT	0.284000													21	22					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542999	14542999	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:14542999G>A	ENST00000358970.5	-	1	146	c.147C>T	c.(145-147)caC>caT	p.H49H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	49										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTCGTCGTGGTCTCCAG	0.587000													68	319					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446683	11446683	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:11446683C>A	ENST00000423059.3	-	21	4168		c.e21-1		AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							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)		ATCATTTTTCCTTGAAGAGAT	0.458000										HNSCC(18;0.044)			13	22					1.49906e-05	1.58309e-05	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322547	55322547	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55322547C>G	ENST00000314644.2	+	1	765	c.765C>G	c.(763-765)aaC>aaG	p.N255K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						TGGTCATCAACAGTGGGTTTA	0.473000										HNSCC(20;0.049)			23	41					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120188600	120188600	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:120188600C>T	ENST00000450251.1	+	9	1642	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	USP53_ENST00000274030.6_Silent_p.I366I			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	366					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GGCAGGTCATCAGCTGGTCAC	0.383000													19	82					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120608131	120608131	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120608131T>A	ENST00000259486.6	-	12	1133	c.1084A>T	c.(1084-1086)Ata>Tta	p.I362L	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCCTATGTATTTTTCTTCTT	0.448000													58	105					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779750	52779750	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:52779750G>A	ENST00000334635.5	+	11	1059	c.879G>A	c.(877-879)taG>taA	p.*293*	DCUN1D4_ENST00000381441.3_Silent_p.*258*|DCUN1D4_ENST00000451288.2_Silent_p.*337*|DCUN1D4_ENST00000381437.4_Silent_p.*233*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	0										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGATGTCCTAGGACTTTATGC	0.403000													21	39					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54799343	54799343	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:54799343C>T	ENST00000545554.1	+	22	5330	c.5330C>T	c.(5329-5331)gCt>gTt	p.A1777V	UNC13C_ENST00000260323.11_Missense_Mutation_p.A1777V|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1775V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1777	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCAGTATGCTGCAATTGTA	0.318000													6	15					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524198	108524198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:108524198G>A	ENST00000379007.2	-	2	268	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	72						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCATCATGTGACGATATTGA	0.413000													113	134					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073136	134073136	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134073136C>G	ENST00000264360.4	+	1	2667	c.1841C>G	c.(1840-1842)gCc>gGc	p.A614G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	614	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCGAGAACGCCCGGCTCACT	0.697000													14	45					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224883	59224883	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59224883G>C	ENST00000300127.2	+	1	473	c.450G>C	c.(448-450)gtG>gtC	p.V150V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTCTTGGGTGAGTGGTGGTT	0.517000													56	122					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57058310	57058310	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:57058310G>C	ENST00000308249.2	+	7	2315	c.2186G>C	c.(2185-2187)gGg>gCg	p.G729A		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	738					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)			AGTTGGAAAGGGTACAGTGAA	0.408000													42	65					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868441	57868441	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57868441A>T	ENST00000393797.2	-	17	2159	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.V566E|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.V585E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.V645E|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.V566E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.V382E			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTCTGGACCACTGCCAAGTT	0.522000													49	68					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478633	21478633	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:21478633C>A	ENST00000281523.2	-	5	1020	c.502G>T	c.(502-504)Gtt>Ttt	p.V168F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	168	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.V168I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGTCATAACACTGCTTTTG	0.443000													52	51					5.57489e-27	7.43319e-27	1	1	0
WDR17	116966	broad.mit.edu	37	4	177071209	177071209	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:177071209C>A	ENST00000393643.2	+	15	2315	c.2063C>A	c.(2062-2064)cCa>cAa	p.P688Q	WDR17_ENST00000507824.2_Missense_Mutation_p.P695Q|WDR17_ENST00000280190.4_Missense_Mutation_p.P712Q|WDR17_ENST00000508596.1_Missense_Mutation_p.P688Q	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	712										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATAGAACCAGGCACTCCT	0.318000													34	60					1.56442e-22	2.03933e-22	1	1	0
OR10G4	390264	broad.mit.edu	37	11	123887132	123887132	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123887132C>T	ENST00000320891.4	+	1	851	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTTCTCAACCCTGTTGTGTAC	0.453000													18	64					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884145	228884145	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:228884145G>T	ENST00000392056.3	-	7	1471	c.1425C>A	c.(1423-1425)gtC>gtA	p.V475V	SPHKAP_ENST00000344657.5_Silent_p.V475V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	475						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)		TTTCAACAGAGACTTCCATCT	0.537000													24	51					1.22574e-08	1.36609e-08	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				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	p.G3519G(3)		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)				cgccgccgccaccgccgccgc	0.716000													4	63					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189597916	189597916	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:189597916T>C	ENST00000418709.2	+	11	1441	c.1413T>C	c.(1411-1413)tcT>tcC	p.S471S	TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000437221.1_Silent_p.S377S|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAAAACAATCTGACGTCTTCT	0.443000										HNSCC(45;0.13)			26	63					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459268	148459268	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:148459268G>A	ENST00000542281.1	+	4	892	c.446G>A	c.(445-447)tGc>tAc	p.C149Y	AGTR1_ENST00000497524.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.C149Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.C149Y	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	149					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAGTCACCTGCATCATCATT	0.453000													73	131					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80672909	80672909	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:80672909A>G	ENST00000458043.2	+	25	2870	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	OTOGL_ENST00000547103.1_Missense_Mutation_p.Y955C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGACTAGAATATGACTATATC	0.353000													17	85					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143681	55143681	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55143681G>C	ENST00000396331.1	+	6	1011	c.654G>C	c.(652-654)ctG>ctC	p.L218L	LILRB1_ENST00000448689.1_Silent_p.L218L|LILRB1_ENST00000427581.2_Silent_p.L254L|LILRB1_ENST00000396317.1_Silent_p.L218L|LILRB1_ENST00000434867.2_Silent_p.L218L|LILRB1_ENST00000396315.1_Silent_p.L218L|LILRB1_ENST00000396327.3_Silent_p.L218L|LILRB1_ENST00000418536.2_Silent_p.L218L|LILRB1_ENST00000396321.2_Silent_p.L218L|LILRB1_ENST00000324602.7_Silent_p.L218L|LILRB1_ENST00000396332.4_Silent_p.L218L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	218	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGAGCTCCTGGTCCTAGGTG	0.582000										HNSCC(37;0.09)			45	100					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10587972	10587972	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10587972G>T	ENST00000381902.2	-	2	231	c.225C>A	c.(223-225)gtC>gtA	p.V75V	KLRC2_ENST00000381901.1_Silent_p.V75V|NKG2-E_ENST00000539033.1_Silent_p.V75V|KLRC2_ENST00000536833.2_Silent_p.V16V	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	75					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TGATTCCTAGGACCTCGGCAG	0.428000													24	212					2.47511e-08	2.73244e-08	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13565959	13565959	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:13565959G>C	ENST00000360228.5	-	2	360	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L121V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	121					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCATCAGGCAGATGCTGCTCC	0.448000													76	142					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													5	68					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8647480	8647480	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:8647480C>T	ENST00000293845.3	-	2	332	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	CCDC42_ENST00000539522.2_Missense_Mutation_p.A36T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	36										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GACTCCGACGCCCCCTCAACA	0.542000													59	29					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118451953	118451953	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:118451953T>A	ENST00000369209.3	-	6	676	c.572A>T	c.(571-573)gAg>gTg	p.E191V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	191							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTCTCGAACTCCGAACCCGC	0.567000													40	160					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521986	49521986	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:49521986C>A	ENST00000336023.5	-	4	1205	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	371					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCTCTCTGTACCTTGGCCAGG	0.577000													22	18					3.11337e-16	3.82781e-16	1	1	0
RP3-368A4.5	0	broad.mit.edu	37	X	73423446	73423446	+	RNA	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:73423446G>C	ENST00000603037.1	-	0	514																											ACTTTCCTTTGAGGGTCTTCG	0.438000													11	6					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665506	141665506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:141665506C>A	ENST00000389484.3	-	22	4431	c.3460G>T	c.(3460-3462)Gag>Tag	p.E1154*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1154	LDL-receptor class A 10.				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)		CAGAGTTTCTCTGGCTGCAGG	0.448000										TSP Lung(27;0.18)			40	113					3.38236e-24	4.45891e-24	1	1	0
RYR2	6262	broad.mit.edu	37	1	237656291	237656291	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656291G>T	ENST00000366574.2	+	19	2182	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	RYR2_ENST00000360064.6_Missense_Mutation_p.G620V|RYR2_ENST00000542537.1_Missense_Mutation_p.G606V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGCCACGGGGTTGCAGTC	0.502000													18	21					3.99206e-14	4.76761e-14	1	1	0
RFX6	222546	broad.mit.edu	37	6	117252625	117252625	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117252625C>A	ENST00000332958.2	+	19	2759	c.2743C>A	c.(2743-2745)Cct>Act	p.P915T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	915					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTTTACCACCTATCAACAC	0.448000													33	60					1.08312e-15	1.32055e-15	1	1	0
SHCBP1	79801	broad.mit.edu	37	16	46650005	46650005	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:46650005C>A	ENST00000303383.3	-	4	715	c.449G>T	c.(448-450)tGt>tTt	p.C150F		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	150										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TTGAGAGTCACAGAGGTATGG	0.468000													26	78					1.77063e-15	2.14979e-15	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97860318	97860318	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:97860318C>T	ENST00000447648.2	-	15	2536	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N	TECPR1_ENST00000379795.3_Missense_Mutation_p.S747N|TECPR1_ENST00000542604.1_Missense_Mutation_p.S676N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	746				S -> T (in Ref. 6; CAB55961).		integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGTCTGGGCTGGGCTCGCT	0.692000													5	38					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45968409	45968409	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:45968409C>T	ENST00000260324.7	+	6	1151	c.765C>T	c.(763-765)ctC>ctT	p.L255L	SQRDL_ENST00000568606.1_Silent_p.L255L|RP11-96O20.4_ENST00000564080.1_Silent_p.L255L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	255							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGCGGAACCTCACTGTTAACT	0.458000													52	119					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117002759	117002759	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:117002759G>A	ENST00000356083.3	+	21	3218	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	943	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGCAGCTGGGGCCCGAGGT	0.662000													40	82					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95381781	95381781	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:95381781G>A	ENST00000371447.3	+	4	954	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	272	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATCATATCTGAACTGTGAAC	0.403000													6	89					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679229	176679229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:176679229C>T	ENST00000367662.3	+	11	4732	c.3568C>T	c.(3568-3570)Caa>Taa	p.Q1190*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1190					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						ATACTTGGATCAATGGGCTAC	0.453000													17	95					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32880204	32880204	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:32880204G>A	ENST00000538132.1	-	4	707	c.321C>T	c.(319-321)ctC>ctT	p.L107L	AHCY_ENST00000217426.2_Silent_p.L135L|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	135					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGTTGGTGAGGTCGCCCC	0.637000													6	42					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673769	133673769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133673769T>C	ENST00000519595.1	-	2	213	c.115A>G	c.(115-117)Att>Gtt	p.I39V	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.I39V|LRRC6_ENST00000518642.1_Missense_Mutation_p.I39V			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	39						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATTTATCAATGTGTTCTAGT	0.358000													27	84					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152623178	152623178	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:152623178C>A	ENST00000367255.5	-	92	17968	c.17367G>T	c.(17365-17367)aaG>aaT	p.K5789N	SYNE1_ENST00000265368.4_Missense_Mutation_p.K5789N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5401N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K313N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5718N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5789					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGTAGCCCTTAATTTTCT	0.532000										HNSCC(10;0.0054)			25	95					7.38237e-10	8.38775e-10	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46396315	46396315	+	Splice_Site	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:46396315G>C	ENST00000454345.1	+	19	2213		c.e19-1		DGKZ_ENST00000456247.2_Splice_Site|DGKZ_ENST00000528615.1_Splice_Site|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Splice_Site|DGKZ_ENST00000527911.1_Splice_Site|DGKZ_ENST00000395574.3_Splice_Site|DGKZ_ENST00000421244.2_Splice_Site|DGKZ_ENST00000343674.6_Splice_Site|DGKZ_ENST00000318201.8_Splice_Site	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCGCCTCCAGTGTGATGGAA	0.652000													3	51					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97368398	97368398	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:97368398G>T	ENST00000457909.1	+	0	4820							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						CTCGCTGACTGGGGAGGCCGA	0.582000													10	16					7.48243e-07	8.06225e-07	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56477587	56477587	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:56477587A>G	ENST00000267101.3	+	2	575	c.135A>G	c.(133-135)caA>caG	p.Q45Q	ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.Q45Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	45					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGAGAACCAATACCAGACAC	0.547000													73	90					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284988	62284988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284988C>A	ENST00000378024.4	-	5	17175	c.16901G>T	c.(16900-16902)gGa>gTa	p.G5634V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				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)				AGCCTGGAGTCCAATCTGACC	0.493000													53	86					2.48909e-17	3.08626e-17	1	1	0
RBM26	64062	broad.mit.edu	37	13	79894824	79894824	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:79894824C>G	ENST00000438737.2	-	22	3396	c.2956G>C	c.(2956-2958)Gat>Cat	p.D986H	RBM26_ENST00000438724.1_Missense_Mutation_p.D962H|RBM26_ENST00000267229.7_Missense_Mutation_p.D959H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	986					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AATGAGTCATCCACCAAAGAC	0.313000													17	40					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925573	6925573	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:6925573G>A	ENST00000409757.4	+	2	581	c.457G>A	c.(457-459)Gat>Aat	p.D153N	TBC1D14_ENST00000448507.1_Missense_Mutation_p.D153N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	153						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCGCAGCGATGATGTCTCCGT	0.587000													8	87					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8317912	8317912	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:8317912G>T	ENST00000381196.4	-	43	6244	c.5701C>A	c.(5701-5703)Cta>Ata	p.L1901I	PTPRD_ENST00000540109.1_Missense_Mutation_p.L1901I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1491I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1879I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1494I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1901I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1495I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1491I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1888I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1494I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1901	Tyrosine-protein phosphatase 2.				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)		AGGTACTCTAGTGCGGCACGA	0.428000										TSP Lung(15;0.13)			53	61					2.47907e-22	3.22444e-22	1	1	0
ACAN	176	broad.mit.edu	37	15	89402183	89402183	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:89402183G>C	ENST00000439576.2	+	12	6741	c.6367G>C	c.(6367-6369)Gat>Cat	p.D2123H	ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2123					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCAGAGAAGATTCTGGGTC	0.547000													5	67					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363339	105363339	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105363339C>G	ENST00000369774.4	-	15	1912	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D381H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D518H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D413H			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	546					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCGGGGAGTCCTGGCTCTCA	0.667000													24	63					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132404649	132404649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:132404649G>T	ENST00000321867.4	+	26	3280	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*	ULK1_ENST00000540647.1_Nonsense_Mutation_p.E222*	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	977					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCACTGCCGAGAGGCTCAT	0.652000													8	28					9.70103e-10	1.09795e-09	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52406980	52406980	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52406980C>A	ENST00000420323.2	+	44	7157	c.6896C>A	c.(6895-6897)cCg>cAg	p.P2299Q		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2299	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAACATGCCGGCCCTGGAG	0.617000													27	36					7.01153e-11	8.02889e-11	1	1	0
LEPR	3953	broad.mit.edu	37	1	66088592	66088592	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:66088592G>T	ENST00000349533.6	+	19	2786	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	LEPR_ENST00000371060.3_Missense_Mutation_p.M867I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I|LEPR_ENST00000371059.3_Missense_Mutation_p.M867I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	867					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTGTAGAATGAAAAAGCTAT	0.358000													16	29					9.16793e-09	1.02568e-08	1	1	0
LGSN	51557	broad.mit.edu	37	6	63990815	63990815	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:63990815C>A	ENST00000370657.4	-	4	674	c.641G>T	c.(640-642)gGt>gTt	p.G214V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	214					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTCGGGCACACCAAAAATGCA	0.403000													14	48					0.000151284	0.000157487	1	1	0
WDR47	22911	broad.mit.edu	37	1	109529169	109529169	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:109529169G>A	ENST00000357672.3	-	9	2192	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	WDR47_ENST00000361054.3_Missense_Mutation_p.A606V|WDR47_ENST00000400794.3_Missense_Mutation_p.A642V|WDR47_ENST00000369962.3_Missense_Mutation_p.A634V|WDR47_ENST00000369965.4_Missense_Mutation_p.A635V			O94967	WDR47_HUMAN	WD repeat domain 47	634										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCTGGATAGGCACATACTCT	0.378000													25	49					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41004499	41004499	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:41004499C>G	ENST00000399564.4	-	37	4593	c.4143G>C	c.(4141-4143)gtG>gtC	p.V1381V	MROH2B_ENST00000506092.2_Silent_p.V936V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGTAGAAGCTCACGTCTCGGT	0.468000													28	109					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782338	209782338	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:209782338C>G	ENST00000009105.1	+	8	894	c.649C>G	c.(649-651)Ccc>Gcc	p.P217A	CAMK1G_ENST00000361322.2_Missense_Mutation_p.P217A|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	217	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGTGGATACCCCCCATTCTA	0.512000													24	122					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389980	48389980	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:48389980C>A	ENST00000224600.4	-	1	1011	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	300	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)	GGCAGCACCCCGCTGCCCTCC	0.677000													18	35					1.56452e-12	1.82736e-12	1	1	0
TMEM31	203562	broad.mit.edu	37	X	102968635	102968635	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:102968635A>T	ENST00000319560.6	+	3	407	c.216A>T	c.(214-216)gaA>gaT	p.E72D	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	72						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACCTTCTTGAAGTCCTTCCGT	0.478000													57	27					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39123305	39123305	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:39123305C>G	ENST00000216044.5	+	9	1722	c.1489C>G	c.(1489-1491)Ctc>Gtc	p.L497V		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	497					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCCGAGATTCTCGTCCTCCA	0.597000													4	73					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516082	140516082	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140516082C>A	ENST00000231134.5	+	1	1283	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		356	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCTACCCCAGAAAATGC	0.522000													52	52					1.30409e-13	1.5511e-13	1	1	0
DCLRE1C	64421	broad.mit.edu	37	10	14977537	14977537	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:14977537G>T	ENST00000453695.2	-	6	473	c.29C>A	c.(28-30)aCt>aAt	p.T10N	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T130N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	130					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACAGGACAGTTCCATTATT	0.443000								Non-homologous end-joining					56	125					3.28156e-27	4.38542e-27	1	1	0
UBA7	7318	broad.mit.edu	37	3	49850743	49850743	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:49850743C>G	ENST00000333486.3	-	3	457	c.299G>C	c.(298-300)aGa>aCa	p.R100T	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	100	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGACAGCTCTGTTGAGCTG	0.592000													4	34					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408863	47408863	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:47408863G>T	ENST00000398879.1	-	17	1746	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	TNS3_ENST00000311160.9_Silent_p.A460A|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	460						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						CGTGAACCTGGGCTGGCACCA	0.577000													22	43					2.37509e-13	2.8078e-13	1	1	0
RDH8	50700	broad.mit.edu	37	19	10132278	10132278	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:10132278G>A	ENST00000591589.1	+	6	1038	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RDH8_ENST00000171214.1_Silent_p.P263P			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	263					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTACTCGCCGCTGACCACGC	0.627000													29	39					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337875	40337875	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:40337875G>C	ENST00000310169.2	+	2	235	c.96G>C	c.(94-96)caG>caC	p.Q32H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	32					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AATATGCTCAGAAGTTGTTTA	0.403000													5	59					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17446187	17446187	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:17446187G>A	ENST00000262545.2	+	11	1734	c.1419G>A	c.(1417-1419)gtG>gtA	p.V473V	PCSK2_ENST00000377899.1_Silent_p.V454V|PCSK2_ENST00000536609.1_Silent_p.V438V|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	473					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCTCCGTGCAGGACCCTG	0.542000													6	27					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655531	138655531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:138655531G>A	ENST00000251691.4	+	33	5714	c.5548G>A	c.(5548-5550)Gat>Aat	p.D1850N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1850					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAGAAGCACGGATTCTTCCCA	0.542000													6	13					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005678	120005678	+	Missense_Mutation	SNP	G	G	A	rs139027075		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120005678G>A	ENST00000354888.5	+	4	1420	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	STEAP3_ENST00000450943.2_Missense_Mutation_p.G306R|STEAP3_ENST00000409811.1_Missense_Mutation_p.G306R|STEAP3_ENST00000393107.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393108.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393110.2_Missense_Mutation_p.G316R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393106.2_Missense_Mutation_p.G306R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	306	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGCAGATCGGGCTGCTCAG	0.692000													4	42					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531875	16531875	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:16531875C>A	ENST00000270747.3	-	10	1763	c.1627G>T	c.(1627-1629)Gcc>Tcc	p.A543S	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	543	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTGGTGGCCATGTCTTCG	0.617000													12	28					1.3612e-06	1.45861e-06	1	1	0
VGLL2	245806	broad.mit.edu	37	6	117586936	117586936	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117586936C>T	ENST00000326274.5	+	1	200	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	VGLL2_ENST00000352536.3_Silent_p.L4L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	4					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)		CATGAGCTGTCTGGATGTTAT	0.582000													7	26					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188305	152188305	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:152188305A>G	ENST00000368801.2	-	3	5875	c.5800T>C	c.(5800-5802)Ttg>Ctg	p.L1934L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1934					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGGCCCAAAGACTGACGG	0.587000													47	1593					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15197928	15197928	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:15197928T>A	ENST00000209540.2	+	1	138	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCAGGGACTCTCAGAAAAGCC	0.468000													21	45					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941928	10941928	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:10941928A>C	ENST00000298232.7	-	13	1088	c.721T>G	c.(721-723)Ttc>Gtc	p.F241V	TPTE_ENST00000361285.4_Missense_Mutation_p.F259V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F221V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	259	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCTATAGAAAGACTGCCTT	0.313000													48	398					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110201531	110201531	+	Splice_Site	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:110201531G>A	ENST00000369833.1	+	4	1247	c.333_splice	c.e4+1	p.K111_splice	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Splice_Site_p.K91_splice|GSTM4_ENST00000326729.5_Splice_Site_p.K152_splice|GSTM4_ENST00000369836.4_Splice_Site_p.K152_splice			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	152	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTGGAGACAAGGTAATGGGGG	0.483000													10	184					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574494	179574494	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179574494C>G	ENST00000589042.1	-	99	28776	c.28552G>C	c.(28552-28554)Gct>Cct	p.A9518P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8274P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9201P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9201							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)			TGGGAACCAGCCACACGTCCC	0.393000													64	118					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531242	8531242	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531242G>C	ENST00000348943.3	+	8	869	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	HNRNPM_ENST00000325495.4_Missense_Mutation_p.E252Q	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	252	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGTTACTTTTGAACAGTCCAT	0.393000													9	144					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245381	52245381	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:52245381C>T	ENST00000394965.2	+	10	1773	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000310271.2_Silent_p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGGCTTCATCTTCACCA	0.597000													4	33					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30873754	30873754	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:30873754C>G	ENST00000251071.5	-	12	2889	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E713D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E380D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E713D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	713					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTCAGGAGTCTCTGAGGTCA	0.373000													49	63					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6049120	6049120	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:6049120C>T	ENST00000223029.3	+	1	245	c.126C>T	c.(124-126)ggC>ggT	p.G42G	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.G42G	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	42					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGGCGCTGGCCACGTGCAGG	0.771000													14	30					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42470704	42470704	+	Silent	SNP	C	C	T	rs138294459		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:42470704C>T	ENST00000318006.5	-	9	945	c.783G>A	c.(781-783)ccG>ccA	p.P261P	VPS39_ENST00000348544.4_Silent_p.P272P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	272	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCAGAAGCCTCGGTTCAAATG	0.453000													36	67					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840371	128840371	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:128840371G>A	ENST00000310343.9	-	22	4694	c.4695C>T	c.(4693-4695)gtC>gtT	p.V1565V	ARHGAP32_ENST00000527272.1_Silent_p.V1216V|ARHGAP32_ENST00000392657.3_Silent_p.V1216V|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1565	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGTATTCCTGACAGAGGAGC	0.532000													17	44					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832592	24832592	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:24832592G>A	ENST00000376451.2	+	14	3702	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1465K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1465					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						AACTATCTTTGAGGAATGTGA	0.438000													20	46					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113984752	113984752	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:113984752G>A	ENST00000429538.3	-	10	1363	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P364S|PAX8_ENST00000348715.5_Missense_Mutation_p.P364S|PAX8_ENST00000263335.7_Missense_Mutation_p.P287S|PAX8_ENST00000397647.3_Intron	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	390					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCTGCGATGGCAGAGGAGGC	0.612000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	5					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272347	53272347	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53272347G>C	ENST00000566029.1	+	12	2935	c.2726G>C	c.(2725-2727)gGa>gCa	p.G909A	CHD9_ENST00000398510.3_Missense_Mutation_p.G909A|CHD9_ENST00000564845.1_Missense_Mutation_p.G909A|CHD9_ENST00000447540.1_Missense_Mutation_p.G909A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	909	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGTATAAGAGGACCTTTCCTG	0.393000													28	83					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711642	192711642	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:192711642C>G	ENST00000304141.4	-	1	339	c.10G>C	c.(10-12)Gac>Cac	p.D4H	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	4						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGTGCAGCGTCCTCTCCCATG	0.622000													21	41					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023481	109023481	+	Missense_Mutation	SNP	G	G	A	rs151045476	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109023481G>A	ENST00000478945.1	-	7	941	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	232						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTCTGCCGAGAGAAGTCT	0.512000													5	75					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47761887	47761887	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47761887G>T	ENST00000221922.6	+	3	297	c.75G>T	c.(73-75)cgG>cgT	p.R25R		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	25										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCTCTTCGGCGGAAGAATG	0.592000													31	73					3.11337e-16	3.82781e-16	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89052265	89052265	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:89052265C>T	ENST00000237612.3	-	5	1024	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R160Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	160	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCTGTTAATCCGTTCGTTTTT	0.423000													31	127					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284989	62284989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:62284989C>A	ENST00000378024.4	-	5	17174	c.16900G>T	c.(16900-16902)Gga>Tga	p.G5634*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5634	Gly-rich.				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)				GCCTGGAGTCCAATCTGACCT	0.493000													52	88					1.57914e-17	1.96635e-17	1	1	0
ZNF492	57615	broad.mit.edu	37	19	22847473	22847473	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22847473G>T	ENST00000456783.2	+	4	1246	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCTGGAGAGAAACCCTACA	0.373000													10	27					5.50884e-06	5.84938e-06	1	1	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013869	33013869	+	RNA	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:33013869T>C	ENST00000567619.1	-	0	499																											GCCAGGCTTCTGGATACACCT	0.552000													22	10					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60921825	60921825	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:60921825T>A	ENST00000321731.3	-	16	1556	c.1397A>T	c.(1396-1398)gAa>gTa	p.E466V		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	466										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGATTCCTTTTCTGTTTGAAC	0.294000													118	47					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109047884	109047884	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:109047884C>A	ENST00000335658.6	-	6	785	c.731G>T	c.(730-732)gGt>gTt	p.G244V		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	244						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGAACCCAACCATCTGTGTC	0.522000													14	27					0.000308642	0.000318457	1	1	0
DCBLD1	285761	broad.mit.edu	37	6	117846586	117846586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117846586G>T	ENST00000338728.5	+	5	694	c.574G>T	c.(574-576)Gga>Tga	p.G192*	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.G192*|DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.G192*			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	192	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TATGGTAGATGGATATAGAGA	0.323000													25	62					3.57733e-08	3.91962e-08	1	1	0
DST	667	broad.mit.edu	37	6	56416991	56416991	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:56416991G>C	ENST00000370754.5	-	61	16505	c.16506C>G	c.(16504-16506)aaC>aaG	p.N5502K	DST_ENST00000361203.3_Missense_Mutation_p.N5322K|DST_ENST00000244364.6_Missense_Mutation_p.N2910K|DST_ENST00000446842.2_Missense_Mutation_p.N4998K|DST_ENST00000421834.2_Missense_Mutation_p.N3236K|DST_ENST00000370788.2_Missense_Mutation_p.N3236K|DST_ENST00000370769.4_Missense_Mutation_p.N5324K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5322					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGAACATGTTAAGCTGCT	0.358000													7	73					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6734257	6734257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:6734257C>A	ENST00000264080.7	-	5	462	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	146						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGGGTGCTTCCGGGAGGAGC	0.657000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	33					7.21436e-19	9.08015e-19	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48605585	48605585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605585C>A	ENST00000328333.8	-	105	7920	c.7813G>T	c.(7813-7815)Gga>Tga	p.G2605*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2573*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGCACTCCATCCTTTCCT	0.537000													12	28					4.3838e-07	4.76749e-07	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1253769	1253769	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1253769C>T	ENST00000447027.1	+	16	2000	c.1942C>T	c.(1942-1944)Cac>Tac	p.H648Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.H645Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	645					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAAGCCCTTCCACTCGGTGAG	0.682000													4	2					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265306	168265306	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:168265306C>T	ENST00000366806.2	+	2	323	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	MLLT4_ENST00000447894.2_Missense_Mutation_p.R61W|MLLT4_ENST00000344191.4_Missense_Mutation_p.R61W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392108.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R61W|MLLT4_ENST00000351017.4_Missense_Mutation_p.R61W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	61	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAATGTATTCGGGTCTCTAG	0.398000			T	MLL	AL								95	292					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605584	48605584	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:48605584C>A	ENST00000328333.8	-	105	7921	c.7814G>T	c.(7813-7815)gGa>gTa	p.G2605V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2573V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2605	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGGCACTCCATCCTTTCC	0.532000													13	29					7.93312e-07	8.51644e-07	1	1	0
RNF128	79589	broad.mit.edu	37	X	105937453	105937453	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105937453A>T	ENST00000324342.3	+	1	386	c.221A>T	c.(220-222)aAc>aTc	p.N74I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	91						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AAGAACAATAACTACCAAGCT	0.403000													31	24					0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	113999189	113999189	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:113999189C>T	ENST00000375430.4	-	5	597	c.551G>A	c.(550-552)aGa>aAa	p.R184K	GRTP1_ENST00000326039.3_Missense_Mutation_p.R106K|GRTP1_ENST00000375431.4_Missense_Mutation_p.R184K			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGGTAGTATTCTTCCAACAAG	0.343000													12	156					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76950654	76950654	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:76950654G>A	ENST00000257626.7	-	25	2068	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GCGTACAAGTGGAGAACCCAG	0.408000													21	40					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23447577	23447577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:23447577G>A	ENST00000262713.2	-	2	1459	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q362*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	362	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ACAAAGCACTGGGTGTGGTAG	0.532000													73	45					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021350	245021350	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:245021350C>T	ENST00000444376.2	-	7	1634	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	HNRNPU_ENST00000283179.9_Missense_Mutation_p.R486K	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	486					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTTTGGTCCTCTAACTCGATC	0.383000													35	38					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886175	88886175	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:88886175G>T	ENST00000319675.3	-	1	121	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	9										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTTCCTCGAGCAGTCGCGGT	0.512000													22	47					8.10497e-08	8.86387e-08	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731000													10	36					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670697	13670697	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13670697G>T	ENST00000404922.3	+	13	2866	c.2747G>T	c.(2746-2748)tGc>tTc	p.C916F	FBLN2_ENST00000295760.7_Missense_Mutation_p.C869F|FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	912	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C916F(1)|p.C335F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTGCACCGCTGCGGTGAGGGC	0.652000													7	11					1.12685e-05	1.19218e-05	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39159567	39159567	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:39159567G>C	ENST00000301819.6	+	7	901	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	TTC21A_ENST00000440121.1_Missense_Mutation_p.E201Q|TTC21A_ENST00000431162.2_Missense_Mutation_p.E242Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	242							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGAATCCTAGAAAAAGATGA	0.418000													45	45					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413258	72413258	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:72413258C>T	ENST00000395270.1	+	14	2972	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	POM121_ENST00000358357.3_Missense_Mutation_p.T644M|POM121_ENST00000257622.4_Missense_Mutation_p.T644M|POM121_ENST00000446813.1_Missense_Mutation_p.T644M|POM121_ENST00000434423.2_Missense_Mutation_p.T909M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCGTGCCAACGGCCACCAGC	0.632000													49	178					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418380	55418380	+	Splice_Site	SNP	A	A	T	rs150128867		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55418380A>T	ENST00000312422.2	+	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GACCCATTCCATGGAAAAAAT	0.328000													33	83					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808708	23808708	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23808708A>T	ENST00000354639.3	+	12	1906	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	STK31_ENST00000428484.1_Missense_Mutation_p.D481V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D504V|STK31_ENST00000355870.3_Missense_Mutation_p.D504V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	504							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGAAGTGTGATAAAAGAGAG	0.393000													49	115					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38231329	38231329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:38231329G>A	ENST00000407257.1	+	10	1830	c.1683G>A	c.(1681-1683)ttG>ttA	p.561_561insL	RMDN2_ENST00000417700.2_Silent_p.L238L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Silent_p.L383L|RMDN2_ENST00000406384.1_Silent_p.L383L|RMDN2_ENST00000234195.3_Silent_p.L561L|RMDN2_ENST00000469469.1_3'UTR					regulator of microtubule dynamics 2																		TCTGTAATTTGGCTTTATTGC	0.353000													29	74					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13642274	13642274	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13642274T>C	ENST00000378572.3	+	3	335	c.175T>C	c.(175-177)Tta>Cta	p.L59L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	59					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CCAGAAACCATTAACTTCATC	0.338000													34	70					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060249	46060249	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:46060249C>A	ENST00000295452.4	-	7	1068	c.901G>T	c.(901-903)Gca>Tca	p.A301S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	301					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GATGTTCTTGCAGGCACTGCA	0.333000													23	30					8.58068e-18	1.07304e-17	1	1	0
POTED	317754	broad.mit.edu	37	21	15011857	15011857	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:15011857G>T	ENST00000299443.5	+	10	1483	c.1431G>T	c.(1429-1431)cgG>cgT	p.R477R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	477						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ATGATACCCGGAAACAACTTT	0.363000													5	88					0.014758	0.014937	1	1	0
SLC15A1	6564	broad.mit.edu	37	13	99337073	99337073	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:99337073T>A	ENST00000376503.5	-	23	2087	c.2032A>T	c.(2032-2034)Atc>Ttc	p.I678F		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	678					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)	TGAGCTTCGATCTCCGCTGGG	0.438000													32	67					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	10					1.08611e-07	1.18558e-07	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44792214	44792214	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:44792214T>A	ENST00000291182.4	-	5	1476	c.1374A>T	c.(1372-1374)ccA>ccT	p.P458P	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACATTTGTATGGTTTTTCTT	0.383000													42	120					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138312990C>T	ENST00000421622.1	-	7	830	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G328R			Q8N434	SVOPL_HUMAN	SVOP-like	328						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						TGGCTCTCCCCTGAGTCCCCC	0.567000													16	46					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237396694	237396694	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:237396694C>A	ENST00000409907.3	-	4	871	c.597G>T	c.(595-597)atG>atT	p.M199I	IQCA1_ENST00000309507.5_Missense_Mutation_p.M195I|IQCA1_ENST00000431676.2_Missense_Mutation_p.M199I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	199				M -> I (in Ref. 3; BAB70798).			ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTGCCAAGCATCTTGGATT	0.478000													3	17					6.4e-05	6.69821e-05	1	1	0
PTPRS	5802	broad.mit.edu	37	19	5274329	5274329	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:5274329T>C	ENST00000372412.4	-	3	351	c.118A>G	c.(118-120)Aag>Gag	p.K40E	PTPRS_ENST00000587303.1_Missense_Mutation_p.K40E|PTPRS_ENST00000357368.4_Missense_Mutation_p.K40E|PTPRS_ENST00000353284.2_Missense_Mutation_p.K40E|PTPRS_ENST00000348075.2_Missense_Mutation_p.K40E|PTPRS_ENST00000592099.1_Missense_Mutation_p.K40E|PTPRS_ENST00000262963.6_Missense_Mutation_p.K40E|PTPRS_ENST00000590509.1_Missense_Mutation_p.K40E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K40E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	40	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATCTGGTCCTTGGGTTCTTTG	0.597000													12	30					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056662	100056662	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:100056662C>T	ENST00000369214.1	+	2	481	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRDM13_ENST00000369215.4_Missense_Mutation_p.P64S	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	64	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGGGGCTCCCCTCTGGAGTG	0.617000													14	24					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373000													5	110					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64483263	64483263	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:64483263C>G	ENST00000358025.3	+	33	5031	c.4801C>G	c.(4801-4803)Cta>Gta	p.L1601V	SYNE2_ENST00000344113.4_Missense_Mutation_p.L1601V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1601V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1601					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAAAAATCTACAATTTTA	0.279000													11	91					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34060668	34060668	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:34060668G>T	ENST00000382499.2	-	7	915	c.916C>A	c.(916-918)Cat>Aat	p.H306N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.H306N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.H267N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	267	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACACGATGAGATCCCACC	0.343000													4	52					0.00909568	0.00923805	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33817226	33817226	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:33817226C>T	ENST00000403368.1	-	3	327	c.258G>A	c.(256-258)atG>atA	p.M86I	FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Missense_Mutation_p.M86I|FAM98A_ENST00000441530.2_5'UTR	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	86										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACGGGCAGTTCATCTCCCCTA	0.418000													29	186					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120431405	120431405	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:120431405C>G	ENST00000259526.3	+	4	824	c.597C>G	c.(595-597)gtC>gtG	p.V199V		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	199					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTAGAAGTCTCTGACTCAA	0.478000													66	59					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626550	66626550	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:66626550G>C	ENST00000309602.4	+	1	1578	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	445	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCGAAGATGAGACCCTCATCT	0.662000													14	56					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65390996	65390996	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:65390996G>T	ENST00000355703.3	+	12	2931	c.2392G>T	c.(2392-2394)Ggc>Tgc	p.G798C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	798						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCGGCGTGGGCCTGAGCAG	0.627000													10	24					1.76689e-08	1.95429e-08	1	1	0
ODF2	4957	broad.mit.edu	37	9	131233613	131233613	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:131233613G>C	ENST00000303890.5	+	8	960	c.375G>C	c.(373-375)caG>caC	p.Q125H	ODF2_ENST00000372807.5_Missense_Mutation_p.Q144H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q68H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q125H|ODF2_ENST00000372796.4_Missense_Mutation_p.Q149H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q193H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q130H|ODF2_ENST00000434106.2_Missense_Mutation_p.Q149H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q144H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q149H|ODF2_ENST00000535026.1_Intron|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.Q130H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	149					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GTGAGCGCCAGATGGCCAAAA	0.577000													4	73					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333516	27333516	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333516G>A	ENST00000405846.3	-	2	670	c.449C>T	c.(448-450)tCg>tTg	p.S150L	GPR12_ENST00000381436.2_Missense_Mutation_p.S150L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	150						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CGTCCTCTCCGAATGGTACGT	0.577000													17	17					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160249959	160249959	+	Silent	SNP	G	G	A	rs140105219		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:160249959G>A	ENST00000368072.5	-	6	693	c.672C>T	c.(670-672)gtC>gtT	p.V224V	PEX19_ENST00000440949.3_Silent_p.V134V|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Silent_p.V77V	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTGCACATGACGCTGTGCT	0.473000													49	224					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451293	105451293	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:105451293T>C	ENST00000337685.2	+	5	2653	c.1868T>C	c.(1867-1869)aTa>aCa	p.I623T	MUM1L1_ENST00000357175.2_Missense_Mutation_p.I623T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I623T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	623										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						ATAGATCAAATAATGCCAACT	0.323000													11	6					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196342281	196342281	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:196342281G>A	ENST00000367433.5	-	14	1493	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.T464T|KCNT2_ENST00000451324.2_Silent_p.T75T|KCNT2_ENST00000294725.8_Silent_p.T464T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	464	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCCCTCTAGAGGTATGAACCA	0.313000													34	97					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376014	2376014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:2376014G>A	ENST00000301732.5	-	5	1016	c.316C>T	c.(316-318)Cga>Tga	p.R106*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.R106*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.R106*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	106					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTCTCACCTCGCATGTTGATC	0.642000													12	35					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097365	167097365	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167097365C>A	ENST00000361200.2	+	6	3163	c.2997C>A	c.(2995-2997)aaC>aaA	p.N999K	DUSP27_ENST00000443333.1_Missense_Mutation_p.N999K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N999K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	999	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAATGGCAACTCTGTAAGAA	0.522000													14	59					3.45872e-05	3.6329e-05	1	1	0
WDR70	55100	broad.mit.edu	37	5	37725077	37725077	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:37725077A>G	ENST00000265107.4	+	16	1795	c.1639A>G	c.(1639-1641)Aca>Gca	p.T547A		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	547										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAACGGAGTACAAGGAAACA	0.478000													60	105					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661835	4661835	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:4661835C>T	ENST00000357605.2	+	1	891	c.815C>T	c.(814-816)tCg>tTg	p.S272L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGGCTCTCGGTGGTGCAT	0.552000													38	42					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689200	21689200	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:21689200C>G	ENST00000398485.2	+	3	975	c.921C>G	c.(919-921)gcC>gcG	p.A307A	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A283A	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	307					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTGCAGGGGCCCTGGCTGGGA	0.627000													38	104					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13330428	13330428	+	Missense_Mutation	SNP	C	C	T	rs104894173		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:13330428C>T	ENST00000396920.3	-	6	963	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	PHYH_ENST00000263038.4_Missense_Mutation_p.G204S|PHYH_ENST00000396913.2_Missense_Mutation_p.G104S			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	204					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	p.G204S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ACCAGACAGCCGTTGTTCCGG	0.627000													12	37					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175111013	175111013	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:175111013G>T	ENST00000231683.2	+	1	2550	c.777G>T	c.(775-777)ctG>ctT	p.L259L	HRH2_ENST00000377291.2_Silent_p.L259L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	259					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCGTGGGCTGAGAGGGGATG	0.567000													4	56					0.150653	0.150653	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43216994	43216994	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:43216994G>T	ENST00000255226.6	+	6	1506	c.690G>T	c.(688-690)aaG>aaT	p.K230N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K230N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	230						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCAGCAAGTGGGACCTCC	0.507000													120	157					5.16181e-52	7.16032e-52	1	1	0
PDE1B	5153	broad.mit.edu	37	12	54966391	54966391	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:54966391A>G	ENST00000243052.3	+	7	1037	c.601A>G	c.(601-603)Act>Gct	p.T201A	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T181A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T160A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	201	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GCAGATTCCCACTGTGTTTTT	0.478000													357	536					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997171	28997171	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:28997171C>A	ENST00000322982.3	-	0	763							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CCAGGGCGTTCCCGTCCAGCC	0.647000													13	17					1.5842e-08	1.75888e-08	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			79	162					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122620140	122620140	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:122620140G>T	ENST00000319080.6	+	11	2091	c.1959G>T	c.(1957-1959)gcG>gcT	p.A653A	MLXIP_ENST00000538698.1_Silent_p.A260A			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCACAGCGCAAGACCCCC	0.682000													3	8					0.004672	0.00477001	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146554	5146554	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:5146554A>T	ENST00000274181.7	+	3	625	c.487A>T	c.(487-489)Acc>Tcc	p.T163S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T163S|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	163					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCCCTTTCAACCTGCCAAGG	0.532000													43	98					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41975712	41975712	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:41975712G>A	ENST00000269095.4	-	3	372	c.68C>T	c.(67-69)cCc>cTc	p.P23L	MPP2_ENST00000377184.3_Missense_Mutation_p.P40L|MPP2_ENST00000536246.1_Missense_Mutation_p.P12L|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.P12L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.P23L|MPP2_ENST00000518766.1_Missense_Mutation_p.P68L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	23	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGTGGCACTGGGGAGGGATCC	0.567000													11	25					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714105	60714105	+	Silent	SNP	G	G	A	rs144860400		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:60714105G>A	ENST00000227880.3	-	2	980	c.747C>T	c.(745-747)ccC>ccT	p.P249P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	249					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGATGAAGACGGGGGTGGCAA	0.572000													28	56					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034669	52034669	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52034669G>T	ENST00000346477.3	-	2	240	c.172C>A	c.(172-174)Cca>Aca	p.P58T	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	58	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TACGAGGCTGGAAGGGTAGTG	0.607000													16	41					7.07596e-05	7.39242e-05	1	1	0
CD163	9332	broad.mit.edu	37	12	7653818	7653818	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7653818G>A	ENST00000359156.4	-	3	576	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CD163_ENST00000432237.2_Missense_Mutation_p.S125L|CD163_ENST00000541972.1_Missense_Mutation_p.S113L|CD163_ENST00000396620.3_Missense_Mutation_p.S125L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	125	SRCR 1.				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						CCAAAGAGCTGACTCATTCCC	0.478000													96	128					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18967087	18967087	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18967087C>T	ENST00000262803.5	+	13	2074	c.1802C>T	c.(1801-1803)aCc>aTc	p.T601I	UPF1_ENST00000599848.1_Missense_Mutation_p.T612I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	612					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGAAGCGCACCGCAGAGAGA	0.602000													19	42					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431274	36431274	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:36431274G>A	ENST00000588831.1	+	3	2001	c.947G>A	c.(946-948)cGc>cAc	p.R316H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R316H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	316	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGCCCTGCGCTGCCGGGCA	0.716000													3	11					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156763172	156763172	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:156763172G>T	ENST00000470811.1	+	14	2135	c.800G>T	c.(799-801)cGc>cTc	p.R267L	LEKR1_ENST00000356539.4_Missense_Mutation_p.R571L			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	82										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTGAAGAACGCTTTGAACTG	0.438000													28	55					4.22769e-11	4.87939e-11	1	1	0
ATG4C	84938	broad.mit.edu	37	1	63282341	63282341	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63282341A>T	ENST00000317868.4	+	4	463	c.256A>T	c.(256-258)Aga>Tga	p.R86*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R86*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	86					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TTTCATTTCTAGAATATGGCT	0.423000													14	28					0	0	1	0	0
GTF3C6	112495	broad.mit.edu	37	6	111283710	111283710	+	Splice_Site	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:111283710T>C	ENST00000329970.7	+	5	571		c.e5+2		GTF3C6_ENST00000480191.1_Splice_Site	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa							transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		AAAACATAGGTTAGTTCCATT	0.353000													14	31					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70900122	70900122	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:70900122G>T	ENST00000355733.3	-	16	2288	c.1844C>A	c.(1843-1845)cCc>cAc	p.P615H	ADD2_ENST00000264436.3_Silent_p.A586A|ADD2_ENST00000407644.2_Silent_p.A586A	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCTCTTCTGGGGCAGTTTCTT	0.468000													13	28					0.00136819	0.00139934	1	1	0
CHRNA10	57053	broad.mit.edu	37	11	3692601	3692601	+	Translation_Start_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:3692601C>A	ENST00000250699.2	-	0	13					NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)						elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CTGGCCAGACCTAGGGCAAAA	0.617000													4	0					0.150653	0.150653	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73625553	73625553	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:73625553G>C	ENST00000317905.5	-	16	2109	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L623L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	650					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTGGGTTTGAGCTGTAAAT	0.617000								Other identified genes with known or suspected DNA repair function					9	63					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589732	47589732	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47589732C>A	ENST00000253048.5	-	6	816	c.779G>T	c.(778-780)gGc>gTc	p.G260V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	260	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTGCCCATGCCGCGGCCTCG	0.647000													24	36					7.87624e-14	9.3872e-14	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24401884	24401884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:24401884G>A	ENST00000330966.7	-	22	2948	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S928L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.S928L			Q5VTT5	MYOM3_HUMAN	myomesin 3	928										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)		CTGAAACTCTGAGGAGTCGGG	0.517000													9	113					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247031021	247031021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:247031021T>A	ENST00000366508.1	-	25	3422	c.3286A>T	c.(3286-3288)Aaa>Taa	p.K1096*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.K1070*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.K1061*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1061					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAATTTTAGATAACACA	0.358000													30	88					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26985673	26985673	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:26985673G>A	ENST00000381340.3	-	1	458	c.42C>T	c.(40-42)atC>atT	p.I14I	ITPR2_ENST00000242737.5_Silent_p.I14I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	14					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.I14M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACAGGGACACGATGTCCCCTA	0.622000													11	78					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319355	54319355	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:54319355G>C	ENST00000329734.3	-	2	1150	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	146					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GGTGCTCGTTGAGCCAGGCCT	0.632000													13	72					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999310	63999310	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:63999310C>G	ENST00000371088.4	+	5	918	c.672C>G	c.(670-672)ttC>ttG	p.F224L		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	224							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAGAAACATTCTTAAATAAAG	0.353000													8	99					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266543	31266543	+	Silent	SNP	C	C	T	rs34660027		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:31266543C>T	ENST00000332585.6	+	3	1085	c.981C>T	c.(979-981)ggC>ggT	p.G327G	OSBP2_ENST00000407373.1_Silent_p.G154G|OSBP2_ENST00000382310.3_Silent_p.G327G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.G327G|OSBP2_ENST00000437268.2_Silent_p.G69G|OSBP2_ENST00000403222.3_Silent_p.G162G	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	327					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCAAGCACGGCGCTGCACTCC	0.597000													15	36					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777945	123777945	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123777945C>T	ENST00000321355.2	+	1	837	c.807C>T	c.(805-807)acC>acT	p.T269T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GTTCACTCACCCAGGAGAAAG	0.413000													24	83					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591923	27591923	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:27591923C>A	ENST00000493344.2	-	3	743	c.431G>T	c.(430-432)gGa>gTa	p.G144V	EIF2B4_ENST00000451130.2_Missense_Mutation_p.G143V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.G122V|EIF2B4_ENST00000347454.4_Missense_Mutation_p.G123V			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	123					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGTCCTCCTTGTTCCCC	0.562000													8	128					5.4927e-09	6.15689e-09	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700236	136700236	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:136700236C>T	ENST00000445907.2	+	3	1152	c.624C>T	c.(622-624)caC>caT	p.H208H	CHRM2_ENST00000401861.1_Silent_p.H208H|CHRM2_ENST00000397608.3_Silent_p.H208H|CHRM2_ENST00000320658.5_Silent_p.H208H|CHRM2_ENST00000402486.3_Silent_p.H208H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.H208H|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	208					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TATATTGGCACATATCCCGAG	0.468000													17	61					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367416	184367416	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:184367416C>A	ENST00000504169.1	+	3	786	c.579C>A	c.(577-579)agC>agA	p.S193R	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	193	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCTCGGAGCTCTGGCATCT	0.507000													4	51					0.00024832	0.000257582	1	1	0
ADAM19	8728	broad.mit.edu	37	5	156991418	156991418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:156991418C>T	ENST00000257527.4	-	3	292	c.214G>A	c.(214-216)Gag>Aag	p.E72K	ADAM19_ENST00000517905.1_Missense_Mutation_p.E72K|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.E74K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	72					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)			TCTCGCCCCTCAGCCATTACC	0.502000													50	53					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236957853	236957853	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:236957853G>T	ENST00000409538.1	+	15	3174	c.2678G>T	c.(2677-2679)gGg>gTg	p.G893V	AGAP1_ENST00000304032.7_Missense_Mutation_p.G681V|AGAP1_ENST00000428334.2_Missense_Mutation_p.G520V|AGAP1_ENST00000336665.5_Missense_Mutation_p.G628V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	681					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATCCATCGGGAACGAGCTA	0.577000													34	76					4.4194e-11	5.09059e-11	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34081964	34081964	+	Splice_Site	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:34081964T>A	ENST00000257209.4	+	4	527		c.e4+2		FHOD3_ENST00000359247.4_Splice_Site|FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATATTTCAGGTAAATAGGAAA	0.333000													10	30					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	407582	407582	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:407582C>A	ENST00000380956.4	+	9	1466	c.1340C>A	c.(1339-1341)tCc>tAc	p.S447Y		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	447					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ATCCGCCATTCCTCTATTCAA	0.383000			T	IGH@	MM								19	21					1.40151e-16	1.73041e-16	1	1	0
DLG2	1740	broad.mit.edu	37	11	83770503	83770503	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:83770503C>A	ENST00000398309.2	-	6	929	c.459G>T	c.(457-459)gtG>gtT	p.V153V	DLG2_ENST00000376104.2_Silent_p.V258V|DLG2_ENST00000531015.1_Silent_p.V120V|DLG2_ENST00000280241.8_Silent_p.V192V|DLG2_ENST00000543673.1_Silent_p.V258V|DLG2_ENST00000398301.2_Silent_p.V192V|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Silent_p.V92V|DLG2_ENST00000532653.1_Silent_p.V153V|DLG2_ENST00000524982.1_Silent_p.V153V|DLG2_ENST00000418306.2_Silent_p.V102V	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	153	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAACCTCATTCACCCGCAAGA	0.443000													13	26					5.50884e-06	5.84938e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	215990530	215990530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215990530G>A	ENST00000366943.2	-	48	9765	c.9379C>T	c.(9379-9381)Caa>Taa	p.Q3127*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3127*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3127	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATCAATTTGAAGAGATCTG	0.363000										HNSCC(13;0.011)			6	96					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871926	23871926	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871926G>C	ENST00000354639.3	+	24	3396	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	STK31_ENST00000428484.1_Missense_Mutation_p.E978Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E978Q|STK31_ENST00000355870.3_Missense_Mutation_p.E1001Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1001	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AATAAAGACGGAGAACTTGGA	0.328000													41	99					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357122	114357122	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:114357122G>A	ENST00000317135.8	-	20	2176	c.2146C>T	c.(2146-2148)Ctt>Ttt	p.L716F	LRCH2_ENST00000538422.1_Missense_Mutation_p.L699F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAGCATCAAGAAAATTTTCT	0.323000													14	9					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063179	170063179	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:170063179C>A	ENST00000263816.3	-	39	7336	c.7051G>T	c.(7051-7053)Ggt>Tgt	p.G2351C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2351	EGF-like 9.				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)	GAGCACCCACCATTGTTTTCC	0.498000													27	42					4.22769e-11	4.87939e-11	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730185	53730185	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:53730185C>T	ENST00000262135.4	-	3	201	c.108G>A	c.(106-108)atG>atA	p.M36I	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M36I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	36					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGCGAGACTTCATTGTCCGTG	0.383000													69	170					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748783	96748783	+	Nonstop_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:96748783T>A	ENST00000260682.6	+	9	1483	c.1471T>A	c.(1471-1473)Tga>Aga	p.*491R		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	0					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CATTCCTGTCTGAAGAAGAGC	0.507000													72	40					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48573328	48573328	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:48573328G>T	ENST00000590722.2	+	3	300	c.196G>T	c.(196-198)Gtt>Ttt	p.V66F	SMAD4_ENST00000398417.2_5'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR																							TCCTTGCAACGTTAGCTGTTG	0.308000													6	9					0.0215528	0.0217389	1	1	0
SLC35C1	55343	broad.mit.edu	37	11	45827727	45827727	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:45827727C>T	ENST00000314134.3	+	1	1771	c.375C>T	c.(373-375)atC>atT	p.I125I	SLC35C1_ENST00000442528.2_Silent_p.I112I|SLC35C1_ENST00000456334.1_Silent_p.I112I	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	125						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTCTTCATCGGCATGATCA	0.632000													25	63					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28651652	28651652	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:28651652C>G	ENST00000280904.6	-	13	2487	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	DSC2_ENST00000251081.6_Missense_Mutation_p.D682H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	682	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCCTTGGATCTACACGATGT	0.438000													4	62					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715688	18715688	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18715688C>T	ENST00000433979.1	+	26	3635	c.3519C>T	c.(3517-3519)atC>atT	p.I1173I	PIK3C2G_ENST00000266497.5_Silent_p.I1173I|PIK3C2G_ENST00000538779.1_Silent_p.I1214I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1173	PI3K/PI4K.				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)				ATAACTTGATCCACACACTTG	0.393000													9	10					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74733103	74733103	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:74733103C>A	ENST00000392485.2	-	1	312	c.140G>T	c.(139-141)cGg>cTg	p.R47L	RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.R47L|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R47L|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	47	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GTAGCGGTCCCGCGGGATGTA	0.657000			Mis		"""MDS, CLL"""								10	41					2.17888e-05	2.29273e-05	1	1	0
CD1C	911	broad.mit.edu	37	1	158262029	158262029	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158262029G>A	ENST00000368170.3	+	3	763	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	162					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGCCCAAAGTGTCTGTCATCT	0.453000													153	184					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108997	151108997	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:151108997C>A	ENST00000341697.3	-	12	2724	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	345	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)			TTGAACTTGCCCTCAAACCCA	0.557000													48	159					5.78141e-17	7.15327e-17	1	1	0
ALCAM	214	broad.mit.edu	37	3	105264151	105264151	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:105264151G>T	ENST00000306107.5	+	9	1576	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	ALCAM_ENST00000389927.4_Missense_Mutation_p.S81I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.S359I|ALCAM_ENST00000486979.2_Missense_Mutation_p.S308I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	359	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATATCTGCTAGCAGGAATGCA	0.383000													23	78					1.64293e-13	1.95015e-13	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50054110	50054110	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:50054110G>A	ENST00000376042.1	+	6	3239	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A981T|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	981					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCTAGCACTGCCCCTGAATC	0.478000													48	30					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124544672	124544672	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:124544672G>T	ENST00000408936.3	+	16	3647	c.3465G>T	c.(3463-3465)ctG>ctT	p.L1155L	DAB2IP_ENST00000309989.1_Silent_p.L1031L|DAB2IP_ENST00000259371.2_Silent_p.L1127L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1155					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGACCCAGCTGAAAGAGAGGT	0.567000													34	92					9.17885e-22	1.19121e-21	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25467060	25467060	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:25467060G>A	ENST00000264709.3	-	15	2152	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000402667.1_Silent_p.L382L|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	605	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATCTGGAGCCGGGAGG	0.627000			"""Mis, F, N, S"""		AML								15	40					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778142	110778142	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:110778142C>A	ENST00000368919.3	-	2	198	c.132G>T	c.(130-132)atG>atT	p.M44I	SLC22A16_ENST00000456137.2_Missense_Mutation_p.M44I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.M42I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M44I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	44					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGGTGACTCCCATGAACACAG	0.473000													38	52					1.07637e-12	1.26224e-12	1	1	0
IL12RB1	3594	broad.mit.edu	37	19	18188356	18188356	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18188356C>A	ENST00000600835.1	-	6	822	c.519G>T	c.(517-519)cgG>cgT	p.R173R	IL12RB1_ENST00000430026.2_Silent_p.R173R|IL12RB1_ENST00000322153.6_Silent_p.R173R|IL12RB1_ENST00000593993.1_Silent_p.R173R			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	173	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTGTCCGGTGCCGGAACTGCA	0.607000													13	32					0.00010058	0.00010489	1	1	0
ZP2	7783	broad.mit.edu	37	16	21218290	21218290	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21218290T>C	ENST00000574002.1	-	6	834	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	ZP2_ENST00000574091.1_Missense_Mutation_p.I118V|ZP2_ENST00000219593.4_Missense_Mutation_p.I118V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	118					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGACTCTGATGGTCATCTGG	0.488000													53	118					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179974	124179974	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:124179974G>T	ENST00000357821.2	-	1	759	c.689C>A	c.(688-690)tCc>tAc	p.S230Y		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230					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)		GCCCTCTGAGGAGCGGATGTG	0.498000													17	25					1.5739e-10	1.79874e-10	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16340481	16340481	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:16340481C>T	ENST00000400202.1	-	3	745	c.33G>A	c.(31-33)gtG>gtA	p.V11V	NRIP1_ENST00000400199.1_Silent_p.V11V|NRIP1_ENST00000318948.4_Silent_p.V11V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	11					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AATCCTGGTGCACATCAGAGC	0.433000													22	58					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9760228	9760228	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:9760228C>G	ENST00000383832.3	+	17	1373	c.1183C>G	c.(1183-1185)Cgc>Ggc	p.R395G	CPNE9_ENST00000383831.3_Missense_Mutation_p.R395G	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	395	VWFA.							p.R395C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCCTGCGCACAGTGCA	0.567000													33	18					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622000													23	60					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117660597	117660597	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:117660597C>G	ENST00000317775.6	-	26	4583	c.3898G>C	c.(3898-3900)Gag>Cag	p.E1300Q	NOS1_ENST00000338101.4_Missense_Mutation_p.E1334Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1300					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)	TGCAGGGTCTCTTCCCTGTAG	0.582000													14	98					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951484	47951484	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:47951484C>A	ENST00000236877.6	-	4	1740	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Missense_Mutation_p.G205C	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	449	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCAGCGTGCCCTCGCTGCGG	0.642000													9	42					9.70103e-10	1.09795e-09	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15655747	15655747	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:15655747C>G	ENST00000378076.3	-	15	1818	c.1465G>C	c.(1465-1467)Gta>Cta	p.V489L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	489					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						TGGGCATCTACAGTCACAACC	0.468000													42	81					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282974	59282974	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:59282974C>A	ENST00000329328.3	+	1	589	c.589C>A	c.(589-591)Ctc>Atc	p.L197I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACTCTGGAGCTCCTGATGAT	0.473000													54	112					2.74695e-27	3.6794e-27	1	1	0
WNK4	65266	broad.mit.edu	37	17	40939915	40939915	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:40939915T>A	ENST00000246914.5	+	8	1882	c.1861T>A	c.(1861-1863)Tcg>Acg	p.S621T	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	621					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGCCTGCCCTCGGTGAGAGG	0.627000													28	54					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812818	49812818	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:49812818C>A	ENST00000249601.4	-	1	320	c.24G>T	c.(22-24)caG>caT	p.Q8H	ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Q8H|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	8					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTCCTGGCCTGCCTGATCT	0.612000													18	43					2.94398e-08	3.23174e-08	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723758	140723758	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140723758G>T	ENST00000253812.6	+	1	158	c.158G>T	c.(157-159)gGg>gTg	p.G53V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACCTGGGGCTAGAGCCC	0.607000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	66					5.98616e-33	8.18716e-33	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167163022	167163022	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:167163022G>A	ENST00000375387.4	-	4	808	c.468C>T	c.(466-468)gtC>gtT	p.V156V	SCN9A_ENST00000409672.1_Silent_p.V155V|SCN9A_ENST00000409435.1_Silent_p.V155V|SCN9A_ENST00000303354.6_Silent_p.V156V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	155						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)	CCACTTACTCGACATTTTTGG	0.373000													6	8					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743476	42743476	+	Missense_Mutation	SNP	C	C	G	rs148277728	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:42743476C>G	ENST00000263805.4	-	2	1251	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		AGTAAGCCTTCTGAAGGAAAT	0.428000													9	119					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171452730	171452730	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:171452730C>A	ENST00000356327.5	-	5	535	c.465G>T	c.(463-465)gaG>gaT	p.E155D	PLD1_ENST00000340989.4_Missense_Mutation_p.E155D|PLD1_ENST00000351298.4_Missense_Mutation_p.E155D|PLD1_ENST00000342215.6_Missense_Mutation_p.E155D	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	155	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTCGAGGCTCCTCTCTGACGT	0.403000													75	137					9.59377e-39	1.32453e-38	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112480014	112480014	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:112480014T>A	ENST00000230538.7	-	14	2134	c.1737A>T	c.(1735-1737)ctA>ctT	p.L579L	LAMA4_ENST00000522006.1_Silent_p.L572L|LAMA4_ENST00000389463.4_Silent_p.L572L|LAMA4_ENST00000424408.2_Silent_p.L572L|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	579	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGAGGTTACTTAGGTTAGATA	0.343000													24	87					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													4	71					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148735	44148735	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:44148735G>A	ENST00000416848.2	-	2	802	c.314C>T	c.(313-315)tCa>tTa	p.S105L	PUS7L_ENST00000551923.1_Missense_Mutation_p.S105L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.S105L|PUS7L_ENST00000553166.1_Missense_Mutation_p.S105L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	105					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCTTTTCTGAACCAGACTG	0.343000													4	118					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072415	134072415	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:134072415T>C	ENST00000395352.3	-	2	390	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K14K|SLA_ENST00000427060.2_Silent_p.K37K|SLA_ENST00000338087.5_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTTTCTTTTTCCCTGGGG	0.582000													22	63					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554073	152554073	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:152554073G>A	ENST00000305097.3	+	1	1338	c.502G>A	c.(502-504)Gcg>Acg	p.A168T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAAGAAGAATGCGATCTGTAT	0.552000													31	51					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105658669	105658669	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:105658669G>A	ENST00000224950.3	-	6	714	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.H183Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	183					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTGAGCTGTGAAAAGGCTGG	0.478000													35	56					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43839571	43839571	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:43839571A>T	ENST00000261488.6	-	14	2151	c.1574T>A	c.(1573-1575)tTg>tAg	p.L525*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.L525*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	525					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTCTCGACCAATTCCTTGGT	0.368000													67	118					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221135	20221135	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:20221135C>A	ENST00000361479.5	+	3	990	c.922C>A	c.(922-924)Cat>Aat	p.H308N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.H308N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	308					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGGGCTGGAGCATGGCTTTGA	0.527000													28	36					1.17739e-12	1.37795e-12	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120850833	120850833	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:120850833A>T	ENST00000263713.5	+	14	1373	c.1159A>T	c.(1159-1161)Aca>Tca	p.T387S	EPB41L5_ENST00000331393.4_Missense_Mutation_p.T387S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T387S|EPB41L5_ENST00000443124.1_Missense_Mutation_p.T387S|EPB41L5_ENST00000452780.1_Missense_Mutation_p.T387S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	387						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCATGTGCTACAAAACCTGA	0.299000													33	60					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12569058	12569058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12569058C>T	ENST00000358136.3	+	70	13277	c.13147C>T	c.(13147-13149)Cag>Tag	p.Q4383*	VPS13D_ENST00000471923.1_Nonsense_Mutation_p.Q39*|VPS13D_ENST00000543766.1_Nonsense_Mutation_p.Q381*|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q4358*|VPS13D_ENST00000543710.1_Nonsense_Mutation_p.Q187*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4382					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)		AAACCGAGAGCAGCTGGAGCT	0.542000													35	76					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228114	174228114	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:174228114A>G	ENST00000306721.3	+	4	648	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CDCA7_ENST00000392567.2_Missense_Mutation_p.N103S|CDCA7_ENST00000410019.3_Missense_Mutation_p.N61S|CDCA7_ENST00000410101.3_Missense_Mutation_p.N138S|CDCA7_ENST00000347703.3_Missense_Mutation_p.N103S	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	103	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACTGATTCCAACTCCGATTCA	0.443000													38	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641598	179641598	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:179641598C>T	ENST00000589042.1	-	28	5217	c.4993G>A	c.(4993-4995)Ggg>Agg	p.G1665R	TTN_ENST00000342992.6_Missense_Mutation_p.G1665R|TTN_ENST00000359218.5_Missense_Mutation_p.G1619R|TTN_ENST00000460472.2_Missense_Mutation_p.G1619R|TTN_ENST00000360870.5_Missense_Mutation_p.G1665R|TTN_ENST00000591111.1_Missense_Mutation_p.G1665R|TTN_ENST00000342175.6_Missense_Mutation_p.G1619R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1409							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)			CTATATGTCCCCCGTGGGATG	0.458000													37	79					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658219	72658219	+	RNA	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:72658219C>A	ENST00000425256.1	-	0	1692					NR_002164.1																						gttccgcacccttgcagaacg	0.512000													54	96					1.46156e-29	1.98963e-29	1	1	0
ZKSCAN4	387032	broad.mit.edu	37	6	28214796	28214796	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28214796G>A	ENST00000377294.2	-	4	972	c.729C>T	c.(727-729)aaC>aaT	p.N243N	ZKSCAN4_ENST00000423974.2_Silent_p.N88N	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	243	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCTGTAGAGGTTCACCTGAG	0.458000													31	38					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102800948	102800948	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:102800948C>G	ENST00000262236.5	+	4	1481	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	ZNF839_ENST00000559185.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000558850.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q492E	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	376						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCAGCTGGCTCAGGTTGTGAC	0.433000													7	13					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333839	138333839	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:138333839G>T	ENST00000421622.1	-	4	426	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	SVOPL_ENST00000436657.1_Missense_Mutation_p.S41Y|SVOPL_ENST00000288513.5_Missense_Mutation_p.S41Y|SVOPL_ENST00000419765.3_Missense_Mutation_p.S193Y			Q8N434	SVOPL_HUMAN	SVOP-like	193						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						GATGATCACAGAGGCCAAGCC	0.542000													20	62					1.74485e-21	2.2594e-21	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100189357	100189357	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:100189357C>T	ENST00000241071.6	+	4	712	c.390C>T	c.(388-390)ccC>ccT	p.P130P	FBXO24_ENST00000465843.1_Silent_p.P116P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.P168P|FBXO24_ENST00000360609.2_Silent_p.P116P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.P118P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	130						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGTGGCCCCCTTGCTAGCCC	0.577000													34	106					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900456	112900456	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:112900456G>A	ENST00000374530.3	+	8	2812	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E736K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E736K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E878K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E647K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E878K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E878K|AKAP2_ENST00000482335.1_3'UTR	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		647							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTGCCTGCTGAAGACAGGGC	0.567000													20	27					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963106	63963106	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:63963106G>C	ENST00000324472.4	-	21	2207	c.2024C>G	c.(2023-2025)tCt>tGt	p.S675C	DPY19L2_ENST00000413230.2_Missense_Mutation_p.S122C	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	675					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACTATATGTAGAATAAACTAT	0.264000													92	125					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607384	53607384	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53607384C>A	ENST00000425354.2	-	8	1401	c.914G>T	c.(913-915)gGg>gTg	p.G305V	RARG_ENST00000543726.1_Missense_Mutation_p.G283V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.G305V|RARG_ENST00000338561.5_Missense_Mutation_p.G294V|RARG_ENST00000327550.3_Missense_Mutation_p.G233V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	305	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTGAGGGGCCCGAAGCCGGC	0.612000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	43					3.09479e-21	3.98975e-21	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30725965	30725965	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:30725965G>T	ENST00000361762.2	+	1	3929	c.2921G>T	c.(2920-2922)aGc>aTc	p.S974I	PCDH7_ENST00000543491.1_Missense_Mutation_p.S974I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	974					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGTCAGACAGCCCAAGCATG	0.498000													22	31					1.55795e-14	1.87984e-14	1	1	0
USH2A	7399	broad.mit.edu	37	1	215963415	215963415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:215963415C>A	ENST00000366943.2	-	51	10554	c.10168G>T	c.(10168-10170)Gga>Tga	p.G3390*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.G3390*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3390					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCATCATTCCAGTTGAAATC	0.343000										HNSCC(13;0.011)			15	79					1.05317e-09	1.18965e-09	1	1	0
BUB1	699	broad.mit.edu	37	2	111431695	111431695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:111431695C>T	ENST00000535254.1	-	2	200	c.133G>A	c.(133-135)Gac>Aac	p.D45N	BUB1_ENST00000302759.6_Missense_Mutation_p.D65N|BUB1_ENST00000409311.1_Missense_Mutation_p.D65N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	65	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATCTTGGGTCATTGTGGTAT	0.259000													18	63					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112087006	112087006	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:112087006G>C	ENST00000357685.5	+	11	1714	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	BCO2_ENST00000532593.1_Missense_Mutation_p.E422Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E493Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E493Q|BCO2_ENST00000393032.2_Missense_Mutation_p.E493Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E454Q|BCO2_ENST00000526088.1_Missense_Mutation_p.E487Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	527					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGGAACCAATGAAGAAGATGG	0.418000													4	93					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765479	7765479	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:7765479C>T	ENST00000358415.4	+	9	1099	c.933C>T	c.(931-933)atC>atT	p.I311I	ITIH2_ENST00000379587.4_Silent_p.I300I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	311	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAAAAACATCCTCTTTGTCA	0.418000													49	89					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556579	228556579	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:228556579G>A	ENST00000570156.2	+	100	22869	c.22795G>A	c.(22795-22797)Gaa>Aaa	p.E7599K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E6642K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6642	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGAGCGAAGCCTCCGA	0.612000													6	104					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76634116	76634116	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:76634116C>A	ENST00000290759.4	+	6	1180	c.1020C>A	c.(1018-1020)tcC>tcA	p.S340S	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	340						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACGTGACCTCCCTGTCCTCGC	0.687000													22	54					3.5997e-14	4.31668e-14	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84218573	84218573	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:84218573G>A	ENST00000567759.1	-	2	204	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	TAF1C_ENST00000378541.4_Missense_Mutation_p.R8C|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.R8C|TAF1C_ENST00000570117.1_Intron	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	8					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AATGCAGGGCGGAGGGAGCTG	0.612000													12	18					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183208591	183208591	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:183208591G>C	ENST00000264144.4	+	20	3027	c.2962G>C	c.(2962-2964)Gac>Cac	p.D988H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	988	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.D988H(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCCAGTGACAAGACCCA	0.537000													40	149					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192917	44192917	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:44192917G>A	ENST00000403799.3	-	2	660	c.191C>T	c.(190-192)tCc>tTc	p.S64F	GCK_ENST00000437084.1_Missense_Mutation_p.S64F|GCK_ENST00000345378.2_Missense_Mutation_p.S65F|GCK_ENST00000395796.3_Missense_Mutation_p.S63F	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	64					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCTGGGGTGGAGCGCACGTA	0.607000													29	67					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827457	35827457	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:35827457C>G	ENST00000237530.6	+	4	619	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	103					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.S103C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCTTAGATCTCTATTTCAAAT	0.468000													4	84					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147127967	147127967	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:147127967A>T	ENST00000282928.4	+	1	797	c.68A>T	c.(67-69)cAc>cTc	p.H23L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	23					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCCCGCCACCACTCCGCGGGC	0.721000													17	20					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914551	147914551	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:147914551C>T	ENST00000361727.3	+	19	3698	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P120L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				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)			ACCAAGGCGCCCTGCATTCTC	0.572000										HNSCC(39;0.1)			41	139					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168663	69168663	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69168663G>C	ENST00000420581.2	-	2	1022	c.843C>G	c.(841-843)aaC>aaG	p.N281K	LMOD3_ENST00000489031.1_Missense_Mutation_p.N281K|LMOD3_ENST00000475434.1_Missense_Mutation_p.N281K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	281						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGATGTGCTTGTTTTTCTTCA	0.388000													63	72					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186943239	186943239	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:186943239G>A	ENST00000337774.5	-	13	2003	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	538	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTGGAGAGTGGTGTGTTTGA	0.542000													29	132					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90766792	90766792	+	Splice_Site	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:90766792G>T	ENST00000411539.2	+	8	1123	c.861_splice	c.e8-1	p.G288_splice	SEMA4B_ENST00000332496.6_Splice_Site_p.G288_splice|SEMA4B_ENST00000379122.3_Splice_Site_p.G283_splice	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCCTCCAGGGCGATGAGGGT	0.647000													4	17					0.000602214	0.00061809	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624753	123624753	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123624753C>T	ENST00000327930.2	-	1	500	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGCAGCATCGTCTGACAAA	0.527000													21	52					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14095174	14095174	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:14095174G>T	ENST00000382080.1	-	4	1066	c.351C>A	c.(349-351)gtC>gtA	p.V117V	SGCZ_ENST00000421524.2_Silent_p.V70V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	104					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGACTGTAAGACCAGCGGAC	0.368000													86	258					9.54843e-35	1.30899e-34	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763399	92763399	+	Missense_Mutation	SNP	C	C	A	rs142436298	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:92763399C>A	ENST00000318238.4	-	5	3102	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	629										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)			TCTTGATGACCGAGTCACCGA	0.388000													52	175					1.32667e-27	1.78932e-27	1	1	0
CRH	1392	broad.mit.edu	37	8	67089290	67089290	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:67089290G>C	ENST00000276571.3	-	2	869	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	141					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGTGGCCGCCGAGGGCATTCC	0.672000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826560	13826560	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:13826560C>A	ENST00000324750.3	+	1	1018	c.796C>A	c.(796-798)Cag>Aag	p.Q266K		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	266					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCTTGCCCTCAGAACCTCTA	0.517000													49	88					3.39706e-21	4.36978e-21	1	1	0
ZIM3	114026	broad.mit.edu	37	19	57646877	57646877	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57646877C>T	ENST00000269834.1	-	5	1213	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGGATTTCTTGGCATTAT	0.358000													52	114					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072606	134072606	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:134072606C>A	ENST00000264360.4	+	1	2137	c.1311C>A	c.(1309-1311)gaC>gaA	p.D437E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCTCGGGACCGGGGCGAGC	0.597000													12	114					5.35267e-07	5.81033e-07	1	1	0
ZNF880	400713	broad.mit.edu	37	19	52887621	52887621	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:52887621C>T	ENST00000422689.2	+	4	803	c.788C>T	c.(787-789)aCt>aTt	p.T263I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	263					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGAATACATACTGGAGAGAAA	0.408000													11	39					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255867	240255867	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255867G>A	ENST00000319653.9	+	1	688	c.458G>A	c.(457-459)aGg>aAg	p.R153K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGAGGCTAGGGTCGGGGGC	0.672000													7	15					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74056633	74056633	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:74056633C>G	ENST00000298198.4	-	9	1410	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	367					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCAGCAATCAAACATCCAC	0.373000													5	64					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20249338C>T	ENST00000315957.4	+	1	938	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286					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)		TTACTTAATCCCATTATTTAC	0.363000													28	85					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597220	136597220	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:136597220T>G	ENST00000531224.1	-	5	1695	c.1443A>C	c.(1441-1443)gaA>gaC	p.E481D	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E481D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E479D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E479D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E479D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	481					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATTTTTGTCTTCTTCTTTGT	0.358000													36	217					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897720	175897720	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:175897720T>C	ENST00000359240.3	+	5	1714	c.1044T>C	c.(1042-1044)cgT>cgC	p.R348R	ADAM29_ENST00000404450.4_Silent_p.R348R|ADAM29_ENST00000514159.1_Silent_p.R348R|ADAM29_ENST00000445694.1_Silent_p.R348R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	348	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATACATGTCGTTGTTCACAAC	0.373000													22	121					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865916	18865916	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18865916G>T	ENST00000266505.7	-	6	837	c.574C>A	c.(574-576)Ctt>Att	p.L192I	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L55I|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L190I			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	192	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTTTCACAAGGGCACTAGCA	0.348000													30	53					3.73148e-12	4.34967e-12	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072850	17072850	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:17072850G>A	ENST00000359963.3	-	1	850	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	197					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGCTTGAAGCTGCCGTCTA	0.617000													42	67					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96104154	96104154	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:96104154G>C	ENST00000453304.1	-	14	2693	c.2345C>G	c.(2344-2346)aCt>aGt	p.T782S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	782					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTTTCCAGAGTGAAGGTGCA	0.453000													22	88					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123370287	123370287	+	Splice_Site	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:123370287T>A	ENST00000373930.3	-	5	1200	c.1087_splice	c.e5-1	p.K363_splice	MEGF9_ENST00000426959.1_Splice_Site_p.K400_splice	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	363	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATTCACTCGATTCTAAAAGAG	0.343000													36	91					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40422130	40422130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:40422130C>A	ENST00000280871.4	-	3	948	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.E300*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	300						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCCTCCTCTTCAATGTTGTTT	0.358000										HNSCC(50;0.14)			34	125					6.05902e-23	7.91603e-23	1	1	0
DBF4B	80174	broad.mit.edu	37	17	42827996	42827996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:42827996G>A	ENST00000315005.3	+	14	1361	c.1223G>A	c.(1222-1224)tGg>tAg	p.W408*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.W408*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	408					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAGCAGCGATGGACAGAATCA	0.567000													19	48					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990410	21990410	+	Nonstop_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:21990410T>A	ENST00000594012.1	-	7	2925	c.2411A>T	c.(2410-2412)tAa>tTa	p.*804L	ZNF43_ENST00000354959.4_Nonstop_Mutation_p.*810L|ZNF43_ENST00000598381.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000595461.1_Nonstop_Mutation_p.*804L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAGTATAATTTATTTTATGTT	0.308000													12	29					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40857225	40857225	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:40857225G>A	ENST00000255224.3	-	1	390	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R8W	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	8						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTTCCCGGCTGGTGGTG	0.478000													37	46					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74928828	74928828	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:74928828G>A	ENST00000569840.2	+	11	1967	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	MGAT5B_ENST00000428789.2_Missense_Mutation_p.V476M|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V465M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	465						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGCCGTGGTGTACGGCAA	0.662000													10	71					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616693	77616693	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:77616693G>T	ENST00000521891.2	+	2	818	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGACAGTGACGTGGAAAATCT	0.488000										HNSCC(33;0.089)			23	64					1.22574e-08	1.36609e-08	1	1	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000													18	59					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452787	48452787	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:48452787C>A	ENST00000393271.2	+	2	300	c.218C>A	c.(217-219)aCt>aAt	p.T73N	EME1_ENST00000338165.4_Missense_Mutation_p.T73N|EME1_ENST00000511648.2_Missense_Mutation_p.T73N	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	73					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATAGCTGAAACTGTCACACAA	0.443000								Direct reversal of damage;Homologous recombination					34	69					9.62906e-15	1.16426e-14	1	1	0
ADCY8	114	broad.mit.edu	37	8	132051852	132051852	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:132051852T>A	ENST00000286355.5	-	1	2820	c.728A>T	c.(727-729)cAg>cTg	p.Q243L	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q243L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	243					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCGCTGTACTGCAGGTACGT	0.642000										HNSCC(32;0.087)			8	23					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088066	69088066	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:69088066C>T	ENST00000543976.1	-	7	2177	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R641H	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	641					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TACCTGAAGACGGCCAAGATC	0.383000													45	51					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890007	51890007	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:51890007C>G	ENST00000371117.3	-	32	4876	c.4601G>C	c.(4600-4602)aGc>aCc	p.S1534T	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1534T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1534	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAACGTGGCTTGCATTAAA	0.453000													61	38					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804471	22804471	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr21:22804471G>A	ENST00000400546.1	+	12	1773	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	NCAM2_ENST00000284894.7_Silent_p.S366S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	508	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAGAGCTGTCGCAGACCACGG	0.448000													23	37					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18460705	18460705	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18460705G>T	ENST00000377603.4	+	6	833	c.453G>T	c.(451-453)atG>atT	p.M151I	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	151					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						AGGTGTATATGCTCTATAACC	0.398000													31	76					2.20474e-14	2.64931e-14	1	1	0
PPARA	5465	broad.mit.edu	37	22	46594409	46594409	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:46594409G>T	ENST00000396000.2	+	3	394	c.129G>T	c.(127-129)gaG>gaT	p.E43D	PPARA_ENST00000402126.1_Missense_Mutation_p.E43D|PPARA_ENST00000434345.2_Missense_Mutation_p.E43D|PPARA_ENST00000262735.5_Missense_Mutation_p.E43D|PPARA_ENST00000407236.1_Missense_Mutation_p.E43D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	43					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCATCGGCGAGGATAGTTCTG	0.517000													39	106					1.59361e-14	1.9189e-14	1	1	0
FKBP8	23770	broad.mit.edu	37	19	18652490	18652490	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:18652490C>A	ENST00000597960.2	-	2	411	c.292_splice	c.e2+1	p.L97_splice	FKBP8_ENST00000596558.1_Splice_Site_p.L97_splice|FKBP8_ENST00000544835.2_Splice_Site_p.L97_splice|FKBP8_ENST00000453489.2_Splice_Site_p.L126_splice|FKBP8_ENST00000222308.3_Splice_Site_p.L97_splice			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	97					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTCCTTACCCAGAATGTCCA	0.657000													5	36					0.0381472	0.0383442	1	1	0
SP7	121340	broad.mit.edu	37	12	53722592	53722592	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:53722592C>A	ENST00000536324.2	-	3	917	c.634G>T	c.(634-636)Gct>Tct	p.A212S	SP7_ENST00000303846.3_Missense_Mutation_p.A212S|SP7_ENST00000537210.2_Missense_Mutation_p.A194S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGGTGGGGAGCTGGGTAGGGG	0.597000													22	58					5.35356e-11	6.14239e-11	1	1	0
KCTD20	222658	broad.mit.edu	37	6	36454839	36454839	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:36454839G>C	ENST00000373731.2	+	8	1538	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.D137H|KCTD20_ENST00000536244.1_Missense_Mutation_p.D238H|KCTD20_ENST00000449081.2_Missense_Mutation_p.D217H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	383						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AGCTGCTGGAGATGATGTCTT	0.488000													10	151					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772189	24772189	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:24772189C>A	ENST00000221166.5	+	1	1665	c.883C>A	c.(883-885)Cgc>Agc	p.R295S	NEFM_ENST00000518131.1_Missense_Mutation_p.R295S|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.R295S|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	295	Coil 2B.|Rod.					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)		GTTCAAATGCCGCTACGCCAA	0.607000													8	27					5.18039e-06	5.52071e-06	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30926565	30926565	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:30926565G>A	ENST00000597505.1	-	29	4250	c.4251C>T	c.(4249-4251)taC>taT	p.Y1417Y	DCDC1_ENST00000406071.2_Silent_p.Y152Y|DCDC1_ENST00000339794.5_Silent_p.Y496Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	179					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCCATTTTTGTATGCAATTA	0.458000													78	86					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356280	77356280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:77356280G>A	ENST00000282849.5	-	14	2534	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	706	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						GGGGAGCAGGGAGTTCCATCT	0.398000													40	91					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56620777	56620777	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:56620777G>C	ENST00000336078.4	+	8	3672	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	ZNF532_ENST00000591230.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000589288.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E966Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	966					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						GAAAAGTATTGAAGGGCCTCC	0.348000													6	67					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784149	3784149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:3784149G>A	ENST00000310132.6	-	5	733	c.335C>T	c.(334-336)tCc>tTc	p.S112F	MATK_ENST00000395045.2_Missense_Mutation_p.S113F|MATK_ENST00000395040.2_Missense_Mutation_p.S71F|MATK_ENST00000585778.1_Missense_Mutation_p.S112F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	112					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCTGCGGAGAGGGCCTC	0.687000													13	39					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814526	123814526	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123814526G>T	ENST00000321252.2	-	1	54	c.20C>A	c.(19-21)aCt>aAt	p.T7N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTTACCTGAGTCCAGTTTTC	0.453000													33	64					6.00712e-18	7.52824e-18	1	1	0
FAP	2191	broad.mit.edu	37	2	163059581	163059581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:163059581G>T	ENST00000188790.4	-	13	1329	c.1122C>A	c.(1120-1122)taC>taA	p.Y374*	FAP_ENST00000443424.1_Nonsense_Mutation_p.Y349*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	374					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAATATGTTTGTAGCCATCCT	0.358000													16	39					6.49762e-13	7.63503e-13	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16034646	16034646	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16034646G>A	ENST00000326742.7	-	6	895	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F11_ENST00000248041.7_Silent_p.F298F|CYP4F11_ENST00000402119.3_Silent_p.F298F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	298					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCACATCAATGAAGTCTAAAG	0.463000													48	116					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666589	167666589	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:167666589C>A	ENST00000367854.3	+	6	1059	c.728C>A	c.(727-729)cCc>cAc	p.P243H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P213H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	243	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGAGGTCACCCAGCAGGACA	0.622000													17	15					3.52763e-06	3.76625e-06	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604695	62604695	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:62604695C>A	ENST00000281156.4	-	6	933	c.655G>T	c.(655-657)Ggt>Tgt	p.G219C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	219	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGAGAACACCTCGTCCAGGT	0.592000													14	16					4.36969e-10	4.97446e-10	1	1	0
LCMT1	51451	broad.mit.edu	37	16	25176024	25176024	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:25176024C>T	ENST00000399069.3	+	7	830	c.675C>T	c.(673-675)ttC>ttT	p.F225F	LCMT1_ENST00000380966.4_Silent_p.F170F|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	225							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCCATGTTCATAAACTACG	0.502000													30	68					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702660	37702660	+	Missense_Mutation	SNP	C	C	A	rs143386716	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:37702660C>A	ENST00000220659.6	-	4	728	c.608G>T	c.(607-609)cGa>cTa	p.R203L	BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	203					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTGCATTGTTCGAGACAGCAT	0.517000													25	54					4.47668e-21	5.74589e-21	1	1	0
MYPN	84665	broad.mit.edu	37	10	69926399	69926399	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:69926399C>G	ENST00000358913.5	+	10	2437	c.1949C>G	c.(1948-1950)cCt>cGt	p.P650R	MYPN_ENST00000540630.1_Missense_Mutation_p.P650R|MYPN_ENST00000354393.2_Missense_Mutation_p.P375R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	650	Interaction with NEB.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAGAGCCCCCTCCAGTTCTG	0.483000													26	21					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692494	20692494	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr14:20692494C>A	ENST00000315519.2	+	1	704	c.626C>A	c.(625-627)tCt>tAt	p.S209Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTGCATCTCTGCTCCTTCC	0.498000													41	30					1.62957e-23	2.13379e-23	1	1	0
TSSC1	7260	broad.mit.edu	37	2	3196187	3196187	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:3196187C>G	ENST00000398659.4	-	9	1208	c.1068G>C	c.(1066-1068)gaG>gaC	p.E356D	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.E329D			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	329							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCCCTTACTTCTCTTCAGAAC	0.562000													4	61					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008893	184008893	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:184008893C>T	ENST00000402825.3	+	17	2254	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	ECE2_ENST00000357474.5_Missense_Mutation_p.R680W|ECE2_ENST00000404464.3_Missense_Mutation_p.R634W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R605W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	752	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	p.R605W(1)|p.R680W(1)|p.R752W(1)		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)			GGCAGCCTTCCGGAACCACAC	0.582000													20	75					0	0	1	0	0
YWHAB	7529	broad.mit.edu	37	20	43533728	43533728	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:43533728G>C	ENST00000372839.3	+	5	818	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E182Q	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	182					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTTTACTATGAGATTCTAAA	0.403000													4	88					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274519	178274519	+	Missense_Mutation	SNP	C	C	A	rs115288700	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:178274519C>A	ENST00000264596.3	+	8	1215	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	366					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGAAGTACCCGTGTAATACT	0.358000								Base excision repair (BER), DNA glycosylases					11	76					9.05144e-12	1.0509e-11	1	1	0
FMN2	56776	broad.mit.edu	37	1	240255868	240255868	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:240255868G>T	ENST00000319653.9	+	1	689	c.459G>T	c.(457-459)agG>agT	p.R153S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	153					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGAGGCTAGGGTCGGGGGCC	0.672000													8	12					0.000157383	0.000163544	1	1	0
ROS1	6098	broad.mit.edu	37	6	117642486	117642486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:117642486C>A	ENST00000368508.3	-	35	5911	c.5713G>T	c.(5713-5715)Gag>Tag	p.E1905*	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1899*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1905					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGCCAACTCTTTGTCTTCG	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								71	178					1.93348e-29	2.62593e-29	1	1	0
RYR2	6262	broad.mit.edu	37	1	237656292	237656292	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237656292G>C	ENST00000366574.2	+	19	2183	c.1866G>C	c.(1864-1866)ggG>ggC	p.G622G	RYR2_ENST00000360064.6_Silent_p.G620G|RYR2_ENST00000542537.1_Silent_p.G606G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	622	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCCACGGGGTTGCAGTCC	0.498000													18	21					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53541549	53541549	+	Missense_Mutation	SNP	C	C	T	rs76250115	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:53541549C>T	ENST00000371500.3	+	7	915	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.R211C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	163					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTGGCACCCCGCTTCCTGCC	0.597000													3	20					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531138	8531138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:8531138G>A	ENST00000348943.3	+	8	765	c.533G>A	c.(532-534)tGg>tAg	p.W178*	HNRNPM_ENST00000325495.4_Nonsense_Mutation_p.W217*	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	217					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAAGTTGGCTGGAAGAAACTG	0.383000													6	161					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025209	111025209	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:111025209C>G	ENST00000262839.2	-	8	2972	c.2054G>C	c.(2053-2055)aGa>aCa	p.R685T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	685					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCAGGGTCTCTTTTGGGGCA	0.433000													67	36					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431003	31431003	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:31431003G>T	ENST00000414046.2	+	0	166					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						ATGGAGTCCCGAACCCTCCTC	0.647000													6	5					2.0095e-06	2.14935e-06	1	1	0
HERC2	8924	broad.mit.edu	37	15	28380704	28380704	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:28380704G>C	ENST00000261609.7	-	79	12258	c.12150C>G	c.(12148-12150)caC>caG	p.H4050Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGCAAGGCAGTGCTTTCCTC	0.463000													69	127					0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170658814	170658814	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:170658814C>T	ENST00000393381.2	-	6	808	c.733G>A	c.(733-735)Gat>Aat	p.D245N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	245						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACATTACCATCTGTTTCAGGG	0.358000													14	53					0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47518284	47518284	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:47518284C>G	ENST00000335890.2	-	1	232	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	UXT_ENST00000333119.3_Missense_Mutation_p.E15Q|RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	15					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCACTTTCTCCCCCGTGGCC	0.652000													3	15					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570172	30570172	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:30570172G>A	ENST00000376511.2	-	19	2806	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	752	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCGTGAGGACGATGCCCACCA	0.672000													9	105					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973852	7973852	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:7973852C>T	ENST00000543909.1	-	13	1762	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312T|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350T|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335T|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ACCACACCCGCGCTGATGGTG	0.408000													7	137					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863538	55863538	+	Missense_Mutation	SNP	G	G	A	rs141132100		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:55863538G>A	ENST00000327335.4	-	1	384	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R129S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GACATATAACGCAAAGGTTTG	0.388000													17	74					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144832258	144832258	+	Splice_Site	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:144832258T>C	ENST00000367545.3	+	34	4943	c.4944_splice	c.e34+1	p.M1648_splice		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1648	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATACCTTGATGGTATGTCTC	0.393000													34	83					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100546113	100546113	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:100546113C>A	ENST00000370152.3	+	11	1300	c.1164C>A	c.(1162-1164)ctC>ctA	p.L388L	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	388					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GACCGGCCCTCTATGGATTCA	0.403000													53	122					1.19403e-26	1.58842e-26	1	1	0
EDEM2	55741	broad.mit.edu	37	20	33711699	33711699	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:33711699G>A	ENST00000540582.1	-	13	1706	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	EDEM2_ENST00000542871.1_Missense_Mutation_p.R94W|EDEM2_ENST00000374492.3_Missense_Mutation_p.R370W|EDEM2_ENST00000541621.1_Missense_Mutation_p.R149W|EDEM2_ENST00000374491.2_Missense_Mutation_p.R333W			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	370					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCACCTGGCCGAAGTGGGTAG	0.547000													17	53					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965001	9965001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:9965001G>A	ENST00000264833.4	-	6	1411	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	OLFM2_ENST00000590841.1_Missense_Mutation_p.P331L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	409	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTGTGGAAGGGCACGTCCGT	0.562000													52	95					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652552	101652552	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:101652552C>T	ENST00000409318.1	-	9	1661	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E496K	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	496	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGAATCTTCTCTGTGCGAAAC	0.468000													63	113					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43547613	43547613	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:43547613G>T	ENST00000405006.4	-	31	4761	c.4410C>A	c.(4408-4410)ctC>ctA	p.L1470L	THADA_ENST00000405975.2_Silent_p.L1470L|THADA_ENST00000415080.2_Silent_p.L1151L|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1470							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATCTGTTGAGGCAGCAAG	0.378000													34	74					1.04594e-18	1.31361e-18	1	1	0
PLCZ1	89869	broad.mit.edu	37	12	18847913	18847913	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:18847913T>A	ENST00000266505.7	-	12	1655	c.1392A>T	c.(1390-1392)ttA>ttT	p.L464F	PLCZ1_ENST00000435379.1_Missense_Mutation_p.L269F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L327F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L271F|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L246F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L462F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	464	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TACTCTCTCTTAAGAAATGTG	0.328000													19	68					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20806919	20806919	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:20806919C>A	ENST00000359062.3	+	15	3004	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	988	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCATAAGCCCCTTCATGGATC	0.448000													25	62					2.27525e-19	2.87608e-19	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10355164	10355164	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:10355164C>T	ENST00000377086.1	+	18	1813	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	KIF1B_ENST00000377081.1_Silent_p.L537L|KIF1B_ENST00000377093.4_Silent_p.L491L|KIF1B_ENST00000377083.1_Silent_p.L491L|KIF1B_ENST00000263934.6_Silent_p.L491L			O60333	KIF1B_HUMAN	kinesin family member 1B	537					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGTTAACCTCAATGAAGACC	0.423000													28	88					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149380	70149380	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:70149380T>A	ENST00000550536.1	+	2	697	c.240T>A	c.(238-240)ccT>ccA	p.P80P	RAB3IP_ENST00000483530.2_Silent_p.P64P|RAB3IP_ENST00000378815.6_Silent_p.P64P|RAB3IP_ENST00000362025.5_Silent_p.P80P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Silent_p.P64P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	80					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGAACTTCCTACACAACCCG	0.393000													51	63					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444725	150444725	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:150444725G>A	ENST00000401000.4	+	10	3288	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.E1101K			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1101							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						GATGTCAGGGGAGCCGATCCA	0.532000													11	21					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902219	16902219	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:16902219C>T	ENST00000524140.2	+	14	3417	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	NWD1_ENST00000523826.1_Missense_Mutation_p.S794F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1000F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1000F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1000F|NWD1_ENST00000339803.6_Missense_Mutation_p.S865F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1000							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGATGCCTCTGATCCTTGG	0.527000													6	112					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333515	27333515	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr13:27333515C>G	ENST00000405846.3	-	2	671	c.450G>C	c.(448-450)tcG>tcC	p.S150S	GPR12_ENST00000381436.2_Silent_p.S150S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	150						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCGTCCTCTCCGAATGGTACG	0.582000													18	18					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768458	38768458	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:38768458T>A	ENST00000449082.2	-	16	2725	c.2726A>T	c.(2725-2727)aAc>aTc	p.N909I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	909					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)	CACCTGCAGGTTGTTCACCTC	0.562000													49	49					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021474	51021474	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:51021474G>T	ENST00000599957.1	-	3	1693	c.1496C>A	c.(1495-1497)cCc>cAc	p.P499H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P499H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	499	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCTCTCCGGGCTGCGTCTC	0.746000													3	14					0.115264	0.11566	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139209765	139209765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139209765C>A	ENST00000395297.1	-	8	987	c.817G>T	c.(817-819)Gag>Tag	p.E273*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	273										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCCAGCTCCGTGTGTGGC	0.602000										HNSCC(54;0.14)			23	39					5.45024e-15	6.60361e-15	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135078968	135078968	+	Silent	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:135078968A>T	ENST00000428680.2	-	10	1599	c.1320T>A	c.(1318-1320)acT>acA	p.T440T	CNOT4_ENST00000423368.2_Silent_p.T443T|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Silent_p.T443T|CNOT4_ENST00000315544.5_Silent_p.T443T|CNOT4_ENST00000361528.4_Silent_p.T440T|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Silent_p.T440T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	443					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGGCGGTTGTAGTGTGTGAAG	0.498000													86	87					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100042	9100042	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:9100042T>A	ENST00000377424.4	-	7	881	c.702A>T	c.(700-702)ctA>ctT	p.L234L	SLC2A5_ENST00000535586.1_Silent_p.L119L|SLC2A5_ENST00000536305.1_Silent_p.L175L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	234					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGTCTGTAGGGCTGGGG	0.687000													13	38					0	0	1	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045813	15045813	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:15045813C>G	ENST00000328085.6	+	8	984	c.984C>G	c.(982-984)ctC>ctG	p.L328L	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		ATGATAATCTCAAGACACCTC	0.468000													23	150					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231065661	231065661	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:231065661C>G	ENST00000258381.6	-	10	1146	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	SP110_ENST00000338556.3_Missense_Mutation_p.E59Q|SP110_ENST00000358662.4_Missense_Mutation_p.E357Q|SP110_ENST00000540870.1_Missense_Mutation_p.E363Q|SP110_ENST00000258382.5_Missense_Mutation_p.E357Q|SP110_ENST00000392048.3_Missense_Mutation_p.E355Q	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	357					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCATTCATTTCTGAAGTGCCA	0.473000													5	173					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:26273432G>T	ENST00000377733.2	+	1	289	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587000													9	139					7.48243e-07	8.06225e-07	1	1	0
DTX1	1840	broad.mit.edu	37	12	113534540	113534540	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113534540G>T	ENST00000257600.3	+	9	2162	c.1659G>T	c.(1657-1659)acG>acT	p.T553T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	553					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCTCATCACGGCCTGGGAGA	0.642000													18	17					3.99206e-14	4.76761e-14	1	1	0
CXorf27	25763	broad.mit.edu	37	X	37850191	37850191	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:37850191C>A	ENST00000341016.3	+	1	122	c.99C>A	c.(97-99)gaC>gaA	p.D33E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	33							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GCTTCGTGGACCGCGTTGTGC	0.468000													16	9					1.15088e-07	1.25394e-07	1	1	0
NEK11	79858	broad.mit.edu	37	3	130889723	130889723	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:130889723G>C	ENST00000383366.4	+	14	1684	c.1391G>C	c.(1390-1392)gGa>gCa	p.G464A	NEK11_ENST00000508196.1_Missense_Mutation_p.G464A|NEK11_ENST00000429253.2_Missense_Mutation_p.G464A|NEK11_ENST00000356918.4_Missense_Mutation_p.G464A|NEK11_ENST00000412440.2_Missense_Mutation_p.G280A|NEK11_ENST00000511262.1_Missense_Mutation_p.G464A|NEK11_ENST00000510769.1_Missense_Mutation_p.G359A|NEK11_ENST00000507910.1_Missense_Mutation_p.G464A|NEK11_ENST00000510688.1_Missense_Mutation_p.G464A	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	464					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCTGACCTTGGATACCATGGT	0.498000													67	142					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588711	140588711	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:140588711G>T	ENST00000239450.2	+	1	421	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCAGCTGGACACAAACAC	0.498000													52	38					2.0833e-19	2.63915e-19	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127238524	127238524	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:127238524C>G	ENST00000265825.5	+	4	1215	c.996C>G	c.(994-996)ccC>ccG	p.P332P	FSCN3_ENST00000420086.2_Silent_p.P198P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	332						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGGCACCCCCTGGAGTCTG	0.557000													47	142					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71016365	71016365	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:71016365G>T	ENST00000334414.6	-	3	557	c.513C>A	c.(511-513)ctC>ctA	p.L171L	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.L171L|PTPRB_ENST00000551525.1_Silent_p.L170L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAAGGTAGTGAGAATCTGGG	0.453000													8	10					5.4927e-09	6.15689e-09	1	1	0
CUX2	23316	broad.mit.edu	37	12	111744770	111744770	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:111744770G>C	ENST00000261726.6	+	11	1058	c.904G>C	c.(904-906)Gcg>Ccg	p.A302P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGAGGCCGCGCTGGCCTC	0.637000													47	59					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15739956	15739956	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:15739956G>T	ENST00000281171.4	+	24	3711	c.3381G>T	c.(3379-3381)aaG>aaT	p.K1127N	PTPRO_ENST00000445537.2_Missense_Mutation_p.K316N|PTPRO_ENST00000544244.1_Missense_Mutation_p.K288N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K288N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K316N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1099N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1127	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)				AAGCTACCAAGAGCAAAGGTC	0.443000													41	55					3.54561e-26	4.70599e-26	1	1	0
MIIP	60672	broad.mit.edu	37	1	12091355	12091355	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:12091355G>A	ENST00000436478.2	+	8	980	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	MIIP_ENST00000235332.4_Silent_p.P325P|MIIP_ENST00000466860.1_3'UTR			Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	0										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTTTTCCTCCGAAGTCTGAGA	0.607000													8	28					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80256602	80256602	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:80256602G>C	ENST00000265080.4	+	1	112	c.45G>C	c.(43-45)ctG>ctC	p.L15L	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	15					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCTGTACCTGGCCTTTCTGG	0.687000													7	11					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067999	5067999	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5067999C>G	ENST00000380370.1	+	1	244	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R82C(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)		CTCTGTGCCTCGCATGCTGGG	0.498000													4	77					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45091998	45091998	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:45091998G>A	ENST00000355387.2	+	5	1284	c.834G>A	c.(832-834)agG>agA	p.R278R	RNF220_ENST00000372247.2_Silent_p.R278R|RNF220_ENST00000443020.2_Silent_p.R39R|RNF220_ENST00000361799.2_Silent_p.R278R			Q5VTB9	RN220_HUMAN	ring finger protein 220	278					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCATCAAGAGGGAAGGAGAGT	0.542000													16	32					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26663285	26663285	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:26663285C>G	ENST00000288710.2	+	8	1002	c.928C>G	c.(928-930)Cag>Gag	p.Q310E	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGCAATTTATCAGCTAAACCA	0.368000													20	37					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821659	151821659	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:151821659C>T	ENST00000370306.2	+	9	1834	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	605						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GACTACGTCCCAAAGGTCGAC	0.512000													41	25					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281913	125281913	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:125281913A>C	ENST00000340750.1	+	1	494	c.494A>C	c.(493-495)cAg>cCg	p.Q165P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTCCTGGCCCAGCTGTCCTTT	0.502000													38	74					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr18:44561321G>C	ENST00000332567.4	-	1	667	c.315C>G	c.(313-315)gaC>gaG	p.D105E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	105					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.D105E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTTTCCTGGTCCTGAAGAG	0.662000													69	57					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50784949	50784949	+	Silent	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:50784949T>A	ENST00000433963.1	+	16	2786	c.2286T>A	c.(2284-2286)atT>atA	p.I762I	USP8_ENST00000396444.3_Silent_p.I762I|USP8_ENST00000425032.3_Silent_p.I656I|USP8_ENST00000307179.4_Silent_p.I762I	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	762					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTCTCAGATTCGGAACCTCA	0.398000													23	77					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114483091	114483091	+	Splice_Site	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:114483091C>A	ENST00000513154.1	-	3	589	c.262_splice	c.e3-1	p.G88_splice	TRIM36_ENST00000282369.3_Splice_Site_p.G100_splice|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	100						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCGCTTCCAGCCTGTGTAATT	0.408000													29	28					5.45727e-16	6.69547e-16	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5077278	5077278	+	Splice_Site	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:5077278C>T	ENST00000312251.3	-	8	1296		c.e8+1		NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase						carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGGATAGGTACCTCTGGAGAC	0.607000													16	29					0	0	1	0	0
HINT3	135114	broad.mit.edu	37	6	126293443	126293443	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:126293443A>G	ENST00000229633.5	+	3	555	c.358A>G	c.(358-360)Aga>Gga	p.R120G		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	120	HIT.					mitochondrion|nucleolus	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CATTCTTGAAAGAAATAATTT	0.333000													32	55					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641151	158641151	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:158641151G>A	ENST00000368148.3	-	12	1761	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	SPTA1_ENST00000368147.3_Silent_p.A527A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	527					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)					TCTCTTCCTGGGCAGTAAAGG	0.468000													38	36					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133905937	133905937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:133905937C>T	ENST00000220616.4	+	11	2804	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	TG_ENST00000377869.1_Missense_Mutation_p.P922S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	922	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.P922T(1)		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)		TCCCCTAGGTCCTGGCTCCTG	0.512000													7	86					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683156	20683156	+	Silent	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:20683156G>C	ENST00000404938.2	+	7	1231	c.579G>C	c.(577-579)tcG>tcC	p.S193S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTACTTTTTCGATTGGCCTGG	0.428000													27	61					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	181715	181715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:181715G>A	ENST00000283426.6	+	17	3471	c.3421G>A	c.(3421-3423)Gca>Aca	p.A1141T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1141					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCTGACTGTGCAGTGATAAG	0.562000													36	84					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920648	57920648	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:57920648G>A	ENST00000355673.3	+	7	2076	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MBD6_ENST00000431731.2_Missense_Mutation_p.E574K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	574	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACCTCCCCCTGAGCCCCTGCT	0.617000													11	52					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987009	7987009	+	Silent	SNP	G	G	C	rs75251458		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:7987009G>C	ENST00000221573.6	+	4	513	c.462G>C	c.(460-462)ctG>ctC	p.L154L	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	154					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTTTGCTCCTGAGCGCCCCTG	0.672000													14	126					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81726769	81726769	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:81726769C>T	ENST00000537098.3	+	12	1533	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	CMIP_ENST00000398040.4_Silent_p.L334L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.L393L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	453						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCAGAGCTCTCGCACATGAGA	0.542000													15	19					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142004915	142004915	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:142004915C>T	ENST00000389484.3	-	5	1443	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	158	EGF-like 2; calcium-binding (Potential).				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)		ACAGCACATTCATCTTGATCT	0.393000										TSP Lung(27;0.18)			42	78					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13545693	13545693	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:13545693T>A	ENST00000295757.3	+	9	932	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	HDAC11_ENST00000404548.1_Missense_Mutation_p.C118S|HDAC11_ENST00000404040.1_Missense_Mutation_p.L150Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.C90S|HDAC11_ENST00000522202.1_Missense_Mutation_p.L199Q|HDAC11_ENST00000402259.1_Missense_Mutation_p.L84Q|HDAC11_ENST00000437379.2_Missense_Mutation_p.L222Q|HDAC11_ENST00000402271.1_Missense_Mutation_p.L171Q|HDAC11_ENST00000446613.2_Missense_Mutation_p.L58Q|HDAC11_ENST00000433119.1_Missense_Mutation_p.C208S	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	250	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	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)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGGAGCACCTGCCCGACGTG	0.617000													12	22					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901010	123901010	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:123901010C>G	ENST00000431524.1	+	1	714	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		TCCTGCGGATCCGCACCTCAG	0.522000													42	74					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10145826	10145826	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:10145826T>A	ENST00000428126.2	-	7	776	c.507A>T	c.(505-507)aaA>aaT	p.K169N	CLEC1B_ENST00000298527.6_Missense_Mutation_p.K202N|CLEC1B_ENST00000348658.4_Missense_Mutation_p.K169N			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	202	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TAGGGTGCATTTTCCCATTAT	0.378000													87	107					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777746	43777746	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:43777746C>A	ENST00000389420.3	-	30	4486	c.4487G>T	c.(4486-4488)aGg>aTg	p.R1496M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1496	TSP type-1 12.					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)		GTATACATCCCTCTGCTGAAC	0.443000													30	26					1.22384e-17	1.52718e-17	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6651059	6651059	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6651059G>C	ENST00000299441.3	-	11	5290	c.4879C>G	c.(4879-4881)Ccg>Gcg	p.P1627A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1627	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGCGGCGGGGAGCCGTGG	0.652000													21	28					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287558	160287558	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:160287558C>A	ENST00000392783.2	-	10	2505	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670I|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTCAGTTTCATTGAAGTTT	0.408000													16	109					4.7546e-09	5.3604e-09	1	1	0
DDX54	79039	broad.mit.edu	37	12	113617090	113617090	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:113617090C>T	ENST00000314045.7	-	4	449	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	DDX54_ENST00000306014.5_Missense_Mutation_p.R141Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	141	Helicase ATP-binding.				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						ACTGCCCGTCCGGGCCATGGC	0.642000													18	13					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572575	101572575	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:101572575C>G	ENST00000326172.5	+	5	1320	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	NFKBIZ_ENST00000394054.2_Nonsense_Mutation_p.S302*|NFKBIZ_ENST00000326151.5_Nonsense_Mutation_p.S280*	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTGCCATTCTCAAACATGGGA	0.498000													10	83					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369133	22369133	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:22369133G>T	ENST00000332663.2	+	1	656	c.558G>T	c.(556-558)cgG>cgT	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R186R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGTTGTCCGGATTGCCTGTG	0.458000													54	221					1.34159e-35	1.84351e-35	1	1	0
CEP68	23177	broad.mit.edu	37	2	65300160	65300160	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:65300160C>T	ENST00000537589.1	+	2	1646	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	CEP68_ENST00000497039.1_Intron|CEP68_ENST00000546106.1_Intron|CEP68_ENST00000377990.2_Intron|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron			Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	0					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGTCTTGTCTCTTCCCCCA	0.433000													9	22					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958213	61958213	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:61958213G>T	ENST00000332800.7	-	4	508	c.375C>A	c.(373-375)aaC>aaA	p.N125K	GH2_ENST00000456543.2_Missense_Mutation_p.N125K|GH2_ENST00000449787.2_Missense_Mutation_p.N110K|GH2_ENST00000423893.2_Missense_Mutation_p.N125K	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	125						extracellular region	hormone activity	p.N125K(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACACCAGGCTGTTGGCGAAGA	0.617000													99	57					1.07111e-62	1.48935e-62	1	1	0
CNTNAP3	79937	broad.mit.edu	37	9	39178284	39178284	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:39178284T>C	ENST00000297668.6	-	5	685	c.612A>G	c.(610-612)atA>atG	p.I204M	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I204M|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I116M|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I204M|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I204M	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	204	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)		TAACGTCTCTTATTGGTTTTA	0.328000													4	181					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137000	140137000	+	Silent	SNP	G	G	A	rs148569376		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:140137000G>A	ENST00000340384.4	+	4	478	c.330G>A	c.(328-330)gcG>gcA	p.A110A		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	110					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										CAGAAGGCGCGGAGCTGGTGG	0.582000													20	49					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242118	18242118	+	Splice_Site	SNP	A	A	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:18242118A>T	ENST00000377369.2	+	2	187		c.e2-1		SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Splice_Site	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						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						CCTTTACCACAGAAATTCCTT	0.433000													25	29					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947849	237947849	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:237947849G>T	ENST00000366574.2	+	90	13154	c.12837G>T	c.(12835-12837)atG>atT	p.M4279I	RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4279					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGGACATGGTCACGGCCT	0.463000													13	23					9.31168e-06	9.86937e-06	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18105280	18105280	+	Splice_Site	SNP	T	T	A	rs144009342		TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:18105280T>A	ENST00000524803.1	-	10	1092		c.e10-2		SAAL1_ENST00000529318.1_Intron|SAAL1_ENST00000300013.4_Intron			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1						acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GAAGATCTACTGTATAAACAA	0.358000													22	32					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13183422	13183422	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:13183422G>C	ENST00000319217.7	-	19	2891	c.2644C>G	c.(2644-2646)Cct>Gct	p.P882A	MPDZ_ENST00000447879.1_Missense_Mutation_p.P882A|MPDZ_ENST00000546205.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882A|MPDZ_ENST00000541718.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882A|MPDZ_ENST00000536827.1_Missense_Mutation_p.P882A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	882					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTACCTTAGGAGGAGATGAT	0.398000													12	14					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368603	40368603	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40368603G>A	ENST00000221347.6	-	28	12752	c.12745C>T	c.(12745-12747)Cca>Tca	p.P4249S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4249	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCCAGCCTGGGGCTCGCCAG	0.647000													5	106					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848374	54848374	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:54848374G>T	ENST00000291759.4	-	6	1049	c.993C>A	c.(991-993)ggC>ggA	p.G331G	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	331	Ig-like C2-type 4.					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)		TCACCGTGGGGCCCGGCTGCA	0.617000													17	48					1.02788e-11	1.19104e-11	1	1	0
OR56B4	196335	broad.mit.edu	37	11	6129824	6129824	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:6129824G>A	ENST00000316529.3	+	1	911	c.816G>A	c.(814-816)aaG>aaA	p.K272K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	272					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)		CAGAGAAAAAGATTCCCCTTA	0.512000													30	53					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679200	87679200	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:87679200G>A	ENST00000320005.5	-	6	852	c.805C>T	c.(805-807)Cta>Tta	p.L269L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	269					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGGATAAATAGCATATCATAA	0.423000													13	44					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62146686	62146686	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:62146686C>G	ENST00000261517.5	-	85	11305	c.11232G>C	c.(11230-11232)gtG>gtC	p.V3744V	VPS13C_ENST00000249837.3_Silent_p.V3701V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3744					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGAAGTCTCACTGATGACT	0.408000													5	206					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58005263	58005263	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:58005263A>G	ENST00000424930.2	+	5	1570	c.1341A>G	c.(1339-1341)cgA>cgG	p.R447R	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Silent_p.R414R|ZNF419_ENST00000415379.2_Silent_p.R400R|ZNF419_ENST00000221735.7_Silent_p.R446R|ZNF419_ENST00000442920.2_Silent_p.R433R|ZNF419_ENST00000426954.2_Silent_p.R434R	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCAACATCGAAAAGTTCACA	0.433000													4	190					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227978	28227978	+	Silent	SNP	T	T	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:28227978T>C	ENST00000343684.3	+	1	881	c.829T>C	c.(829-831)Tta>Cta	p.L277L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	277										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TACTATGGATTTAATAGGGCC	0.443000													30	34					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871925	23871925	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:23871925G>A	ENST00000354639.3	+	24	3395	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	STK31_ENST00000428484.1_Silent_p.T977T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.T977T|STK31_ENST00000355870.3_Silent_p.T1000T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1000	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATAAAGACGGAGAACTTGG	0.328000													41	96					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020754	33020754	+	RNA	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr16:33020754C>T	ENST00000565407.2	+	0	162				RP11-19N8.2_ENST00000567619.1_RNA																							ACTACATGAGCTGGGTCCGCC	0.562000													97	235					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41977361	41977361	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:41977361C>G	ENST00000301831.4	-	4	772	c.310G>C	c.(310-312)Gac>Cac	p.D104H	ULK4_ENST00000420927.1_Missense_Mutation_p.D104H	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	104	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTAATCAGGTCAATTCCAAAT	0.353000													27	38					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522778	95522778	+	RNA	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:95522778G>T	ENST00000432432.2	-	0	249					NR_040113.1																						CACCTCCGCGGCGTCGCCTTT	0.682000													27	46					1.88708e-17	2.3448e-17	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78211240	78211240	+	RNA	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr15:78211240C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTCCCACAGCCTCTTTTCCTG	0.577000													73	136					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499867	90499867	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:90499867G>T	ENST00000325643.5	+	4	531	c.465G>T	c.(463-465)ctG>ctT	p.L155L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCTCCCACCTGCCCTTAGGTG	0.637000													12	32					1.5842e-08	1.75888e-08	1	1	0
SDK1	221935	broad.mit.edu	37	7	4152954	4152954	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:4152954G>A	ENST00000404826.2	+	24	3607	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P	SDK1_ENST00000389531.3_Silent_p.P1156P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1156	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGTTGGGCCGAGCCCCTACA	0.547000													24	259					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081939	61081939	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:61081939C>T	ENST00000301764.7	-	13	1827	c.1430G>A	c.(1429-1431)aGg>aAg	p.R477K	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	477	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGACCAACCTCACCGATGC	0.522000								Nucleotide excision repair (NER)					50	120					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6032851	6032851	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:6032851C>G	ENST00000378858.4	-	2	819	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	199						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGCGCGCCATCCTCTCCAGCG	0.711000													3	7					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763657	82763657	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:82763657G>A	ENST00000423517.2	-	3	3546	c.3209C>T	c.(3208-3210)tCt>tTt	p.S1070F	PCLO_ENST00000333891.8_Missense_Mutation_p.S1070F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1016					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						AGGATCCTTAGAACCTATGTT	0.428000													10	12					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40931189	40931189	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:40931189A>G	ENST00000313164.9	+	3	445	c.86A>G	c.(85-87)cAg>cGg	p.Q29R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	29	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCAACTGCCAGTGGGACTTC	0.433000													26	9					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163851	18163851	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:18163851G>T	ENST00000278816.2	+	9	2543	c.1893G>T	c.(1891-1893)acG>acT	p.T631T	CSRP2BP_ENST00000489634.2_Silent_p.T503T|CSRP2BP_ENST00000377681.2_Silent_p.T630T|CSRP2BP_ENST00000435364.2_Silent_p.T631T			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	631					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTCACTGGACGCCGGAGCCCG	0.537000													38	69					2.05212e-20	2.62815e-20	1	1	0
LPA	4018	broad.mit.edu	37	6	160978583	160978583	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:160978583C>A	ENST00000447678.1	-	30	4772	c.4652G>T	c.(4651-4653)tGc>tTc	p.C1551F	LPA_ENST00000316300.5_Missense_Mutation_p.C1551F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4059	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCTC	0.478000													24	61					2.79863e-10	3.19219e-10	1	1	0
CEP89	84902	broad.mit.edu	37	19	33444523	33444523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:33444523G>A	ENST00000305768.4	-	4	578	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	CEP89_ENST00000590597.1_Nonsense_Mutation_p.Q164*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	164						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GAAAACACCTGATTTCTGTGT	0.468000													22	551					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47858649	47858649	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr20:47858649C>G	ENST00000371764.4	+	18	2124	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAAATCCTCAAGGCGCAGA	0.607000													7	144					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35105331	35105331	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr9:35105331C>T	ENST00000378561.1	-	8	4559	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FAM214B_ENST00000605244.1_Missense_Mutation_p.D502N|FAM214B_ENST00000603301.1_Missense_Mutation_p.D502N|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.D502N|FAM214B_ENST00000378566.1_Missense_Mutation_p.D197N|FAM214B_ENST00000488109.2_Missense_Mutation_p.D502N|FAM214B_ENST00000378557.1_Missense_Mutation_p.D502N			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	502						nucleus											AGGCGGATATCTCCATGCAGG	0.587000													3	26					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012715	73012715	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr4:73012715C>A	ENST00000308744.6	+	4	853	c.755C>A	c.(754-756)cCt>cAt	p.P252H	NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150H|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTGGTCTACCCTTTTAAACCA	0.378000													48	139					2.24722e-20	2.87172e-20	1	1	0
BCOR	54880	broad.mit.edu	37	X	39921470	39921470	+	Silent	SNP	C	C	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chrX:39921470C>A	ENST00000342274.4	-	10	4610	c.4248G>T	c.(4246-4248)ccG>ccT	p.P1416P	BCOR_ENST00000397354.3_Silent_p.P1416P|BCOR_ENST00000378463.1_Silent_p.P293P|BCOR_ENST00000378455.4_Silent_p.P1398P|BCOR_ENST00000378444.4_Silent_p.P1450P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1450					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGCTTCCGGCGGCATAGGGC	0.617000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	3					5.9392e-07	6.43505e-07	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26285423	26285423	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr10:26285423G>T	ENST00000265944.5	+	5	474	c.308G>T	c.(307-309)tGc>tTc	p.C103F	MYO3A_ENST00000376301.1_Missense_Mutation_p.C103F|MYO3A_ENST00000543632.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376302.1_Missense_Mutation_p.C103F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	103	Protein kinase.				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						GTTTAGCTCTGCAGTGGAGGA	0.348000													4	48					0.00909568	0.00923805	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237216	33237216	+	Silent	SNP	C	C	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:33237216C>G	ENST00000401073.2	+	6	2506	c.2436C>G	c.(2434-2436)gtC>gtG	p.V812V	KIAA1522_ENST00000373480.1_Silent_p.V753V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V764V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	753	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGAGCTTGTCAGCTCCCCGG	0.642000													6	23					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541394	55541394	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:55541394C>T	ENST00000361760.1	+	1	481	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	161					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)				CTCCCTGATACTCACATATTT	0.413000													72	139					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173498	126173498	+	Silent	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:126173498G>T	ENST00000339582.2	-	9	2746	c.1938C>A	c.(1936-1938)atC>atA	p.I646I	GRM8_ENST00000358373.3_Silent_p.I646I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I646I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	646					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGAGCATATGATTGTATCTG	0.463000										HNSCC(24;0.065)			50	54					2.43468e-25	3.22416e-25	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139163460	139163460	+	Silent	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr8:139163460C>T	ENST00000395297.1	-	13	3428	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1086										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTGACTTCCTCATCCAACG	0.468000										HNSCC(54;0.14)			18	58					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746378	57746378	+	Silent	SNP	A	A	G			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:57746378A>G	ENST00000302804.7	+	6	897	c.711A>G	c.(709-711)ccA>ccG	p.P237P	AURKC_ENST00000598785.1_Silent_p.P203P|AURKC_ENST00000448930.1_Silent_p.P203P|AURKC_ENST00000599062.1_Silent_p.P234P|AURKC_ENST00000415300.2_Silent_p.P218P	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	237	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		TGGGATATCCACCCTTTGAGA	0.527000													19	46					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37870093	37870093	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:37870093G>C	ENST00000436120.2	+	3	212	c.105G>C	c.(103-105)caG>caC	p.Q35H	ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCATCTCAGAAGGATTTAT	0.433000													45	105					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960229	37960229	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:37960229G>T	ENST00000559325.1	+	1	67	c.48G>T	c.(46-48)ttG>ttT	p.L16F	EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ATTTCCTGTTGGCAGCAGTGA	0.587000													5	12					0.0215528	0.0217389	1	1	0
ZRANB2	9406	broad.mit.edu	37	1	71538196	71538196	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:71538196C>T	ENST00000370920.3	-	5	638	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E113K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	113					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTATATATTCAACATTTTCT	0.289000													39	68					0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25753225	25753225	+	Silent	SNP	G	G	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:25753225G>A	ENST00000444995.3	-	5	1135	c.435C>T	c.(433-435)atC>atT	p.I145I	LRP5L_ENST00000402785.2_Silent_p.I145I|LRP5L_ENST00000402859.2_Silent_p.I145I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	145										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCTCACCTCGATCTTGTCTG	0.657000													26	39					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664248	14664248	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr12:14664248C>T	ENST00000240617.5	-	8	1784	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	378					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAATTTGCTCCACAATGTAC	0.383000													41	81					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987437	185987437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr1:185987437delC	ENST00000271588.4	+	34	5652	c.5423delC	c.(5422-5424)gafs	p.A1808fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.A1808fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1808	Ig-like C2-type 15.				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						TGCATGGCAGCAAATACTGCT	0.398													32	109	---	---	---	---					
LHCGR	3973	broad.mit.edu	37	2	48915432	48915432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:48915432delG	ENST00000294954.7	-	11	1525	c.1504delC	c.(1504-1506)ttfs	p.L502fs	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.L475fs|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.L440fs|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	502			L -> P (in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACACCGACAAGGGGCAACATA	0.428													32	96	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													4	3	---	---	---	---					
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1																						gactccatctcaaaaaaaaaaa	0.564													4	3	---	---	---	---					
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aagcttfs	p.L1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													8	220	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125635510	125635510	+	RNA	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr3:125635510delG	ENST00000485843.1	+	0	38					NR_024251.1																						TTGCTGCAGAGTTTGCAGCGC	0.731													2	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176637659	176637659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr5:176637659delA	ENST00000439151.2	+	5	2304	c.2259delA	c.(2257-2259)ccfs	p.P753fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P650fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	753					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCTCTCTCCAAAATTCAACC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	36	---	---	---	---					
CCHCR1	54535	broad.mit.edu	37	6	31110739	31110739	+	Splice_Site	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr6:31110739delC	ENST00000396268.3	-	17	2680		c.e17+1		CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000396263.2_Splice_Site|CCHCR1_ENST00000451521.2_Splice_Site	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGCCCAAGACCTTTTATGGA	0.542													181	224	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12675735	12675735	+	Frame_Shift_Del	DEL	G	G	-	rs76010472	byFrequency	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:12675735delG	ENST00000297029.5	+	10	1486	c.1385delG	c.(1384-1386)cgfs	p.R462fs	SCIN_ENST00000445618.2_Frame_Shift_Del_p.R215fs|SCIN_ENST00000519209.1_Frame_Shift_Del_p.R215fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	462	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTTGGATCGGTCCCTTGGA	0.478													10	24	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65225141	65225141	+	RNA	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:65225141delC	ENST00000442266.1	+	0	1034				SNORA15_ENST00000384058.1_RNA																							TAAGGTTTTTCATAGCATATC	0.383													13	20	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													4	5	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													2	4	---	---	---	---					
MGAM	8972	broad.mit.edu	37	7	141765242	141765242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:141765242delG	ENST00000475668.2	+	38	4646	c.4592delG	c.(4591-4593)tgfs	p.W1531fs	MGAM_ENST00000549489.2_Frame_Shift_Del_p.W1531fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1531	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGGCCGCATGGGATCAGCTG	0.617													10	17	---	---	---	---					
TRBV6-8	28599	broad.mit.edu	37	7	142124559	142124559	+	RNA	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr7:142124559delG	ENST00000390376.2	-	0	6																											AGGAGCCCGAGGCTCATGGCA	0.597													48	172	---	---	---	---					
MRPL23	6150	broad.mit.edu	37	11	1968600	1968600	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:1968600delG	ENST00000381514.3	+	1	30	c.8delG	c.(7-9)cgfs	p.R3fs	MRPL23_ENST00000397294.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397298.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.R3fs			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	3					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCCATGGCGCGGAATGTGGTG	0.766													2	4	---	---	---	---					
MMP26	56547	broad.mit.edu	37	11	5010886	5010886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:5010886delC	ENST00000380390.1	+	3	324	c.108delC	c.(106-108)ttfs	p.F36fs	MMP26_ENST00000300762.1_Frame_Shift_Del_p.F36fs|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	36					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGCTATTTCCATCAATTTT	0.468													8	14	---	---	---	---					
OR4A5	81318	broad.mit.edu	37	11	51412003	51412003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr11:51412003delC	ENST00000319760.6	-	1	445	c.393delG	c.(391-393)ttfs	p.L131fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCATGATGGTCAAATAGTGCA	0.463													43	63	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25756988	25756988	+	RNA	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr17:25756988delC	ENST00000586223.1	+	0	1822					NR_033892.1																						GGGCAGCAGACCACTCTCTGG	0.662													2	4	---	---	---	---					
ZNF546	339327	broad.mit.edu	37	19	40521432	40521434	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:40521432_40521434delAAG	ENST00000347077.4	+	7	2471_2473	c.2255_2257delAAG	c.(2254-2259)aaa>a	p.KE752del	ZNF546_ENST00000600094.1_In_Frame_Del_p.KE726del|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATAGCTGTAAAGAATGTGGGAA	0.394													25	84	---	---	---	---					
NLRP7	199713	broad.mit.edu	37	19	55451373	55451373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr19:55451373delC	ENST00000588756.1	-	6	1300	c.814delG	c.(814-816)acfs	p.D272fs	NLRP7_ENST00000590030.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.D300fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	272	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTCCCAGTCCCCGCAGATG	0.607													30	71	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-D6-A74Q-01A-11D-A34J-08	TCGA-D6-A74Q-10A-02D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc27f950-d674-40b2-b865-bcedd7cc5005	cc245755-32f3-409b-87e4-82e919672f86	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													7	121	---	---	---	---					
