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
PUS7L	83448	broad.mit.edu	37	12	44148624	44148624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:44148624C>A	ENST00000416848.2	-	2	913	c.425G>T	c.(424-426)tGt>tTt	p.C142F	PUS7L_ENST00000344862.5_Missense_Mutation_p.C142F|PUS7L_ENST00000551923.1_Missense_Mutation_p.C142F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.C142F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	142					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.C142F(1)		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)		TCTTACATCACAGGCAAAATT	0.368000													48	15					2.13384e-23	3.23798e-23	1	1	0
RNF113B	140432	broad.mit.edu	37	13	98829362	98829362	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:98829362G>T	ENST00000267291.6	-	1	157	c.129C>A	c.(127-129)caC>caA	p.H43Q	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	43							nucleic acid binding|zinc ion binding	p.H43Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTCTCTCCGTGCTCGGGGT	0.697000													13	12					4.3838e-07	4.97466e-07	1	1	0
ZNF75D	7626	broad.mit.edu	37	X	134426361	134426361	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:134426361C>A	ENST00000370766.3	-	4	3159	c.450G>T	c.(448-450)ttG>ttT	p.L150F	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	150					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L150F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGTTCCTCCCAAGAGCACTG	0.507000													19	40					5.35267e-07	6.04782e-07	1	1	0
MACF1	23499	broad.mit.edu	37	1	39853098	39853098	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:39853098C>G	ENST00000564288.1	+	58	15361	c.14584C>G	c.(14584-14586)Ctt>Gtt	p.L4862V	MACF1_ENST00000567887.1_Missense_Mutation_p.L4899V|MACF1_ENST00000317713.7_Missense_Mutation_p.L2800V|MACF1_ENST00000289893.4_Missense_Mutation_p.L3302V|MACF1_ENST00000539005.1_Missense_Mutation_p.L2779V|MACF1_ENST00000372915.3_Missense_Mutation_p.L4867V|MACF1_ENST00000545844.1_Missense_Mutation_p.L2800V|MACF1_ENST00000361689.2_Missense_Mutation_p.L2800V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4867					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L3302V(1)|p.L2800V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCTCTACTTCTTTCTGTACC	0.428000													37	129					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52878687	52878687	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:52878687C>T	ENST00000356971.3	-	10	1414	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	ICK_ENST00000350082.5_Missense_Mutation_p.E309K	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	309					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.E309K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTGCCTTTTCCAGGATGCCT	0.512000													4	28					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219529494	219529494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219529494C>A	ENST00000295704.2	-	9	1209	c.769G>T	c.(769-771)Gag>Tag	p.E257*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	257					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.E257*(1)|p.E257Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTTTCGCTCAGCCTCAAGG	0.567000													31	27					1.22384e-17	1.72195e-17	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31323015	31323015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31323015G>T	ENST00000269197.5	+	12	3203	c.3203G>T	c.(3202-3204)cGa>cTa	p.R1068L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1068	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R775L(1)|p.R1068L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGGGCCCAGCGAGAGGCTGCT	0.617000													9	11					1.08611e-07	1.24878e-07	1	1	0
DOCK8	81704	broad.mit.edu	37	9	446549	446549	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:446549C>A	ENST00000432829.2	+	44	5872	c.5556C>A	c.(5554-5556)acC>acA	p.T1852T	DOCK8_ENST00000382329.1_Silent_p.T1387T|DOCK8_ENST00000453981.1_Silent_p.T1920T|DOCK8_ENST00000469391.1_Silent_p.T1820T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1920					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.T1852T(1)|p.T1920T(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGTCCTGACCACTATGCACG	0.577000													15	44					1.49906e-05	1.64393e-05	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60688324	60688324	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:60688324G>T	ENST00000335712.6	-	4	1950	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	BCL11A_ENST00000537768.1_Missense_Mutation_p.L244M|BCL11A_ENST00000358510.4_Missense_Mutation_p.L541M|BCL11A_ENST00000356842.4_Missense_Mutation_p.L575M|BCL11A_ENST00000538214.1_Missense_Mutation_p.L541M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	575					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.L575M(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCCTCGGCCAGGTGGCCGCGC	0.667000			T	IGH@	B-CLL								15	16					3.41278e-10	4.25172e-10	1	1	0
OR13A1	79290	broad.mit.edu	37	10	45798999	45798999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:45798999A>T	ENST00000553795.1	-	4	1180	c.872T>A	c.(871-873)tTg>tAg	p.L291*	OR13A1_ENST00000536058.1_Nonsense_Mutation_p.L291*|OR13A1_ENST00000374401.2_Nonsense_Mutation_p.L291*	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L291*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGGCCAGCCAACTTGCTCTT	0.542000													9	45					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81346567	81346567	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:81346567A>T	ENST00000222390.5	-	11	1612	c.1386T>A	c.(1384-1386)gaT>gaA	p.D462E	HGF_ENST00000457544.2_Missense_Mutation_p.D457E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	462	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.D462E(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAGGGCAATAATCCCAAGGAA	0.378000													24	55					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196733536	196733536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:196733536G>A	ENST00000296350.5	-	14	1935	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACCTCGGCTCGGGCCCCGTTG	0.622000													14	13					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167654946	167654946	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:167654946G>A	ENST00000519204.1	+	24	5086	c.4968G>A	c.(4966-4968)agG>agA	p.R1656R	TENM2_ENST00000403607.2_Silent_p.R1601R|TENM2_ENST00000518659.1_Silent_p.R1777R|TENM2_ENST00000520394.1_Silent_p.R1538R|TENM2_ENST00000545108.1_Silent_p.R1776R					teneurin transmembrane protein 2									p.R1777R(1)|p.R1656R(1)|p.R1610R(1)									GTACCCTGAGGGTGATGTATG	0.507000													6	5					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385454	79385454	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:79385454G>T	ENST00000393878.1	-	3	585	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	REG3A_ENST00000305165.2_Missense_Mutation_p.Q111K|REG3A_ENST00000409839.3_Missense_Mutation_p.Q111K	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	111	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.Q111K(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACTGGCACCTGTGTGGGGTCA	0.572000													12	16					0.0202918	0.0207693	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661190	44661190	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44661190G>C	ENST00000426739.2	+	6	1279	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.E341Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E341Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CCACACAGGAGAGAAACCTTA	0.448000													14	39					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27609887	27609887	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:27609887A>C	ENST00000319394.3	+	5	773	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	WDTC1_ENST00000361771.3_Missense_Mutation_p.K80Q	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	80							protein binding	p.K80Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCTGCACCACAAGAAGCTGCT	0.537000													25	31					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	9					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044777	47044777	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:47044777G>A	ENST00000450053.3	+	35	5877	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1716K|NBEAL2_ENST00000383740.2_Missense_Mutation_p.E179K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1900							binding	p.E1277K(1)|p.E1900K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGCGAGGACGAGCTGGCTGA	0.642000													3	26					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100445681	100445681	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:100445681C>A	ENST00000514652.1	+	4	695	c.341C>A	c.(340-342)cCc>cAc	p.P114H	C4orf17_ENST00000326581.4_Missense_Mutation_p.P114H|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	114								p.P114H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATTTCAGAGCCCAGTAGAAAA	0.289000													13	35					0.0202918	0.0207693	1	1	0
GRM5	2915	broad.mit.edu	37	11	88386426	88386426	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:88386426G>T	ENST00000418177.2	-	4	1424	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	GRM5_ENST00000305432.5_Missense_Mutation_p.P353T|GRM5_ENST00000305447.4_Missense_Mutation_p.P353T|GRM5_ENST00000393297.1_Missense_Mutation_p.P353T|GRM5_ENST00000455756.2_Missense_Mutation_p.P353T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	353					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P353T(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGAAACCAAGGGTTTCGGTGG	0.448000													27	41					4.7796e-09	5.77535e-09	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140552772	140552772	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140552772C>T	ENST00000231137.3	+	1	530	c.356C>T	c.(355-357)gCt>gTt	p.A119V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		119	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A119V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTCCGTGCTGAACTATGG	0.448000													20	32					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216634	27216634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:27216634G>A	ENST00000230582.3	+	3	261	c.246G>A	c.(244-246)tgG>tgA	p.W82*	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	82					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.W82*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCGTTACTGGGTGAATGACC	0.517000													16	8					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26110248	26110248	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:26110248G>A	ENST00000374332.4	+	12	2191	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	MAN1C1_ENST00000374329.1_Missense_Mutation_p.D392N|MAN1C1_ENST00000263979.3_Missense_Mutation_p.D441N	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	621					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.D621N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GAACCACTCAGACAGCTCCGG	0.597000													11	38					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61461022	61461022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:61461022C>A	ENST00000343916.3	+	21	1099	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	366	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.P366K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTCTGGAGAGCCAGGCGTCCC	0.662000													5	3					3.59834e-05	3.92136e-05	1	1	0
POLQ	10721	broad.mit.edu	37	3	121200641	121200641	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:121200641C>A	ENST00000264233.5	-	19	6117	c.5989G>T	c.(5989-5991)Gat>Tat	p.D1997Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1997					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.D2132Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATCTGGATCTAGTAACCAG	0.413000								DNA polymerases (catalytic subunits)					21	53					2.98393e-07	3.40834e-07	1	1	0
NGDN	25983	broad.mit.edu	37	14	23944783	23944783	+	Missense_Mutation	SNP	G	G	A	rs148302816		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:23944783G>A	ENST00000397154.3	+	5	312	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NGDN_ENST00000408901.3_Missense_Mutation_p.R100H			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	100	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.R100H(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAAAGCTTCGTCCCTTGGAC	0.428000													46	59					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27684242	27684242	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:27684242G>C	ENST00000260570.3	-	22	2439	c.2336C>G	c.(2335-2337)cCt>cGt	p.P779R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	779					cilium assembly	cilium	binding	p.P779R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGCTTTGGCAGGGAGCCCAGC	0.577000													4	125					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134180979	134180979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:134180979C>A	ENST00000431683.2	+	13	1202	c.1202C>A	c.(1201-1203)cCc>cAc	p.P401H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	401					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P62H(1)|p.P401H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCGAGTACCCAAACTTCCT	0.597000													44	150					1.56793e-16	2.18839e-16	1	1	0
SON	6651	broad.mit.edu	37	21	34932301	34932301	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:34932301G>T	ENST00000300278.4	+	7	6805	c.6776G>T	c.(6775-6777)cGa>cTa	p.R2259L	AP000304.2_ENST00000439593.1_RNA|SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.R2259L(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAAAAGCATCGAATTGCAGAG	0.473000													26	30					2.44723e-14	3.31806e-14	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27800697	27800697	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:27800697C>T	ENST00000408964.2	+	1	1309	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	420								p.P420S(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTAGAGGTGCCCCTGAAGCA	0.468000													42	42					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813861	2813861	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2813861G>A	ENST00000301740.8	+	11	3881	c.3332G>A	c.(3331-3333)aGa>aAa	p.R1111K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1111	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R1111K(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGGCATCCAGATCTCCAATA	0.478000													37	21					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTTTGAGCACCTGGGG	0.597000													5	81					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24166083	24166083	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:24166083G>A	ENST00000303531.7	+	10	1296	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	PRKCB_ENST00000321728.7_Missense_Mutation_p.D382N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	382	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.D382N(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GATCCAAGATGATGACGTGGA	0.537000													5	27					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967800	4967800	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:4967800G>A	ENST00000380373.2	-	1	556	c.531C>T	c.(529-531)tcC>tcT	p.S177S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S177S(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGGAATGGGATAATTGGT	0.413000													15	125					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529116	234529116	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:234529116G>C	ENST00000040877.1	-	28	4551	c.4552C>G	c.(4552-4554)Cta>Gta	p.L1518V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1518					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L1518V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACCTCCACTAGAGGAAGCCAC	0.418000													9	32					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30396585	30396585	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:30396585G>A	ENST00000331968.5	-	1	363	c.134C>T	c.(133-135)cCg>cTg	p.P45L	PRKD1_ENST00000415220.2_Missense_Mutation_p.P45L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	45					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P45L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCCCCCGACCGGGGCCGCGAC	0.756000													4	6					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25136098	25136098	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:25136098G>T	ENST00000276440.7	+	5	282	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	DOCK5_ENST00000481100.1_Missense_Mutation_p.V80L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	80						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V80L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCATGAAACCGTGATTCCTGG	0.537000													9	10					1.33987e-11	1.73983e-11	1	1	0
MYL6	4637	broad.mit.edu	37	12	56552228	56552228	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:56552228G>C	ENST00000536128.1	+	1	83	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.E15Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000550697.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GATTGGGGACGAGAGGCAGGA	0.622000													4	6					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573971	90573971	+	RNA	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:90573971A>G	ENST00000551025.1	+	0	3980							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.N848S(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATTGACCTTAATCACCTGAGA	0.428000													13	11					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372452	175372452	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:175372452G>A	ENST00000367674.1	-	4	1508	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TNR_ENST00000263525.2_Missense_Mutation_p.P267L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	267	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P267L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACAGTCCCCAGGGCACCTCAG	0.637000													24	41					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36561669	36561669	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:36561669G>T	ENST00000431169.1	-	20	1875	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	AOAH_ENST00000258749.5_Silent_p.P525P|AOAH_ENST00000535891.1_Silent_p.P493P|AOAH_ENST00000538464.1_Silent_p.P247P	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	525					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.P525P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATCCATCCACGGGCTCGATGA	0.507000													15	35					8.10497e-08	9.40177e-08	1	1	0
OLFM4	10562	broad.mit.edu	37	13	53616044	53616044	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:53616044G>T	ENST00000219022.2	+	3	435		c.e3-1			NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4						cell adhesion	extracellular space		p.?(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTTTCTTTCAGGTGAGGGAAT	0.388000													11	31					1.58986e-06	1.78475e-06	1	1	0
ANKH	56172	broad.mit.edu	37	5	14751287	14751287	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:14751287G>A	ENST00000284268.6	-	5	908	c.578C>T	c.(577-579)cCg>cTg	p.P193L	ANKH_ENST00000535119.1_5'UTR|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	193					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.P193L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGAGAGGATCGGGATGAGCAG	0.557000													7	81					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171068	214171068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:214171068G>T	ENST00000366958.4	+	2	1798	c.1190G>T	c.(1189-1191)gGg>gTg	p.G397V	PROX1_ENST00000435016.1_Missense_Mutation_p.G397V|PROX1_ENST00000261454.4_Missense_Mutation_p.G397V|PROX1_ENST00000498508.2_Missense_Mutation_p.G397V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	397					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.G397V(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCAGTCAATGGGGAAAACCAC	0.577000													28	73					5.60225e-13	7.49839e-13	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20443737	20443737	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:20443737C>A	ENST00000305051.5	+	1	135	c.60C>A	c.(58-60)tcC>tcA	p.S20S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L21I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATTAAGTCCCTTCCAAAAT	0.388000													19	60					6.94344e-10	8.5483e-10	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904959	55904959	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55904959G>T	ENST00000301529.1	-	1	235	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGCATTTTAGGGGCAATGAC	0.413000													27	50					3.01185e-09	3.64776e-09	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107732801	107732801	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:107732801C>T	ENST00000388781.3	-	13	1614	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	LAMB4_ENST00000205386.4_Missense_Mutation_p.G511R|LAMB4_ENST00000388780.3_Missense_Mutation_p.G511R|LAMB4_ENST00000414450.2_Missense_Mutation_p.G511R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	511	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane		p.G511R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAGCACCTCCAATATCACAG	0.383000													14	25					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203026012	203026012	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:203026012C>G	ENST00000367240.2	+	18	2805	c.2278C>G	c.(2278-2280)Cgc>Ggc	p.R760G	PPFIA4_ENST00000295706.4_Missense_Mutation_p.R275G|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R275G|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R759G|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R488G|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R275G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	275					cell communication	cell surface|cytoplasm	protein binding	p.R275G(1)|p.R906G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCATTGGCCGCCTGTTTGG	0.627000													30	25					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308469	248308469	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248308469C>A	ENST00000366476.1	+	1	20	c.20C>A	c.(19-21)aCc>aAc	p.T7N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T7N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGAATCAGACCTTCAACTCT	0.428000													80	159					1.13027e-35	1.79878e-35	1	1	0
POTEE	445582	broad.mit.edu	37	2	132010529	132010529	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:132010529C>A	ENST00000356920.5	+	13	1729	c.1635C>A	c.(1633-1635)caC>caA	p.H545Q	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	545							ATP binding	p.H545Q(1)|p.H545H(1)									TGAAGAAGCACGGAAGTACTC	0.393000													28	56					1.75199e-13	2.36926e-13	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6066733	6066733	+	Missense_Mutation	SNP	C	C	A	rs148355390		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:6066733C>A	ENST00000409021.3	-	9	1754	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.K250N|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.K435N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.K435N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.K270N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	435	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.K435N(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACAACATGCTTCTGTAAAA	0.488000													20	30					5.35356e-11	6.78291e-11	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235418975	235418975	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235418975C>A	ENST00000264183.3	-	5	771	c.274_splice	c.e5+1	p.V92_splice	ARID4B_ENST00000366603.2_Splice_Site_p.V92_splice|ARID4B_ENST00000349213.3_Splice_Site_p.V92_splice	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.?(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTTCTTACCTACAGTGTAC	0.303000													16	14					1.67942e-08	1.98338e-08	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44676138	44676138	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:44676138C>T	ENST00000454036.1	+	15	1978	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Silent_p.F611F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	634					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.F611F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCTCATGTTCATCTGCTCCT	0.577000													12	166					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72209803	72209803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:72209803G>C	ENST00000269346.4	+	1	151	c.77G>C	c.(76-78)cGc>cCc	p.R26P		NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	26						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.R26P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GTCGGCCTGCGCCTGCAGCCC	0.697000													3	11					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121975	30121975	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:30121975C>T	ENST00000449742.2	-	7	1292	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	406	B30.2/SPRY.					cytoplasm	zinc ion binding	p.R2K(1)|p.R406K(1)		ovary(1)	1						CCAAGCCAGCCTCACAGCCCA	0.682000													9	5					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443098	1443098	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:1443098G>A	ENST00000270349.9	-	2	342	c.215C>T	c.(214-216)tCc>tTc	p.S72F	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S72F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	72					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.S72F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCAATGACGGACAGGAGAAA	0.612000													18	139					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50673020	50673020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:50673020C>A	ENST00000403097.1	-	14	2118	c.1338G>T	c.(1336-1338)caG>caT	p.Q446H	GRB10_ENST00000398812.2_Missense_Mutation_p.Q452H|GRB10_ENST00000407526.1_Missense_Mutation_p.Q394H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q446H|GRB10_ENST00000398810.2_Missense_Mutation_p.Q394H|GRB10_ENST00000402497.1_Missense_Mutation_p.Q394H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q394H|GRB10_ENST00000401949.1_Missense_Mutation_p.Q452H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q394H|GRB10_ENST00000357271.5_Missense_Mutation_p.Q406H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q394H			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	452					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.Q446H(1)|p.Q452H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGGCTGCGCTCTGGGCCTCTG	0.642000									Russell-Silver syndrome				21	26					7.45023e-12	9.72254e-12	1	1	0
UTS2	10911	broad.mit.edu	37	1	7912986	7912986	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:7912986G>A	ENST00000377516.2	-	2	398	c.78C>T	c.(76-78)tcC>tcT	p.S26S	UTS2_ENST00000361696.5_Silent_p.S26S|UTS2_ENST00000054668.5_Intron			O95399	UTS2_HUMAN	urotensin 2	26					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	p.S26S(2)|p.?(1)		kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		ATATTTCCCTGGAGTCAAGGA	0.383000													13	55					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393186	164393186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:164393186G>T	ENST00000280605.3	-	1	1861	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	567						cytoplasm	metal ion binding|transketolase activity	p.Y567*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACCTTCCCTGTAGTGATCCT	0.537000													15	47					9.16793e-09	1.09512e-08	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475528	120475528	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:120475528C>A	ENST00000355622.6	+	3	1223	c.1122C>A	c.(1120-1122)agC>agA	p.S374R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S334R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	374					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S374R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATCTACCAAGCCTTGAGTTTC	0.388000													12	39					1.5842e-08	1.88372e-08	1	1	0
LAP3	51056	broad.mit.edu	37	4	17597048	17597048	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:17597048C>T	ENST00000226299.4	+	8	1153	c.879C>T	c.(877-879)atC>atT	p.I293I	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.I262I|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	293					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	p.I293I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTATCTCCATCAAGGCTTCTG	0.443000													17	56					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322075	52322075	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:52322075G>C	ENST00000356297.4	-	17	2209	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I703M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	703					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.I703M(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATAAATTGGCGATGAGGCTGA	0.627000													25	14					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130616	161130616	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:161130616G>T	ENST00000368002.3	+	3	563	c.186G>T	c.(184-186)cgG>cgT	p.R62R	USP21_ENST00000289865.8_Silent_p.R62R|USP21_ENST00000368001.1_Silent_p.R62R	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	62					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R62R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGATGAACGGCTCAAGAAAC	0.667000													40	64					1.57019e-19	2.23335e-19	1	1	0
OTX2	5015	broad.mit.edu	37	14	57268855	57268855	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:57268855G>A	ENST00000339475.5	-	5	768	c.492C>T	c.(490-492)tcC>tcT	p.S164S	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Silent_p.S156S|OTX2_ENST00000408990.3_Silent_p.S156S	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	156					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.S164S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTGGGGAGATGGAAGCTGGGC	0.542000													6	46					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57011930	57011930	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:57011930G>C	ENST00000370706.4	+	10	1291	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N	RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K349N|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K349N|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K349N(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAGCTGAGAAGAGCATTACCC	0.353000													11	40					0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100774501	100774501	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:100774501C>T	ENST00000296414.7	+	4	566	c.485C>T	c.(484-486)cCt>cTt	p.P162L	DAPP1_ENST00000512369.1_Missense_Mutation_p.P162L			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	162					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	p.P162L(2)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CCCACAGCACCTTCTGTAAGT	0.408000													3	3					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324969	31324969	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31324969T>A	ENST00000269197.5	+	12	5157	c.5157T>A	c.(5155-5157)gcT>gcA	p.A1719A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.A1719A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGAAGAGGCTATTTCCTTGG	0.572000													13	39					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1061853	1061853	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:1061853G>C	ENST00000263094.6	+	41	5767	c.5536G>C	c.(5536-5538)Gcc>Ccc	p.A1846P	ABCA7_ENST00000435683.2_Missense_Mutation_p.A1708P|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1846P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1846	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.A1846P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACACATTGGCCAGCAGGGG	0.637000													5	20					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	9					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730169	1730169	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:1730169C>T	ENST00000313288.4	+	4	1146	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	347						centrosome		p.T347I(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GATGGCGCCACCAGCAAAAGG	0.582000													12	36					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389976	232389976	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:232389976G>T	ENST00000305141.4	-	3	1192	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	353					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.P353P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TATAGAGCACGGGGTTGGCCG	0.657000													10	49					7.03913e-09	8.46641e-09	1	1	0
AIRE	326	broad.mit.edu	37	21	45710773	45710773	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:45710773G>C	ENST00000355347.4	+	1	84	c.84G>C	c.(82-84)ccG>ccC	p.P28P	AIRE_ENST00000291582.5_Intron|AIRE_ENST00000329347.4_Silent_p.P28P			O43918	AIRE_HUMAN	autoimmune regulator	360	HSR.		L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization).		positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.P28P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGATGGCCCCGGGGGGTGTCT	0.602000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				29	78					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705247	75705247	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:75705247G>C	ENST00000394947.3	-	5	927	c.613C>G	c.(613-615)Cct>Gct	p.P205A	SIN3A_ENST00000394949.4_Missense_Mutation_p.P205A|SIN3A_ENST00000360439.4_Missense_Mutation_p.P205A	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	205	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.P205A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACCTGGCCAGGAGTTGTCACA	0.542000													6	32					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2419131	2419131	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:2419131C>T	ENST00000449969.1	+	8	1289	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	PLCH2_ENST00000419816.2_Silent_p.I403I|PLCH2_ENST00000378486.3_Silent_p.I403I|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Silent_p.I403I			O75038	PLCH2_HUMAN	phospholipase C, eta 2	403	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I250I(1)|p.I403I(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGAAACCATCAACAAATATG	0.572000													11	19					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910525	23910525	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:23910525C>A	ENST00000382298.3	-	10	8078	c.7490G>T	c.(7489-7491)gGa>gTa	p.G2497V	SACS_ENST00000402364.1_Missense_Mutation_p.G1747V|SACS_ENST00000382292.3_Missense_Mutation_p.G2497V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2497					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.G2497V(1)|p.G2350V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGGACTGCTCCTAGTTTTAC	0.398000													49	88					5.13769e-22	7.64066e-22	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698292	111698292	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:111698292C>A	ENST00000340433.2	+	1	566	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	112							nucleic acid binding|zinc ion binding	p.I112I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTTGTGGGATCATATCTGGGC	0.398000													18	19					2.35188e-11	3.02385e-11	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30806759	30806759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30806759G>A	ENST00000383096.3	-	16	1836	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q552*					coiled-coil domain containing 178									p.Q552*(2)									AGTATTACCTGAAGCACCATT	0.323000													11	42					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41991273	41991273	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:41991273A>T	ENST00000219905.7	+	5	2285	c.2104A>T	c.(2104-2106)Aga>Tga	p.R702*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R702*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R702*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R702*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R702*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	702						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R702*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTACAGAGCAAGAATTTCCCA	0.393000													6	6					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11867212	11867212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:11867212G>A	ENST00000346436.6	+	2	164	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CLCN6_ENST00000312413.6_Missense_Mutation_p.E38K|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E38K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E38K|CLCN6_ENST00000376497.3_Missense_Mutation_p.E38K	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	38					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.E38K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGAGGAGGAGGATGA	0.473000													6	22					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31314324	31314324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31314324G>T	ENST00000269197.5	+	10	1027	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K342_E343>N*(1)|p.K49_E50>N*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTGAGAAGGAAAAGAAAAC	0.328000													8	16					0.0477658	0.0485092	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151777633	151777633	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:151777633T>G	ENST00000255262.3	-	2	964	c.799A>C	c.(799-801)Aac>Cac	p.N267H	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	267					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.N267H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGCATCTTGTTGACTGATTTT	0.398000													21	19					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121198	58121198	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:58121198G>T	ENST00000257897.3	-	16	2042	c.1957C>A	c.(1957-1959)Cgc>Agc	p.R653S	AGAP2-AS1_ENST00000542466.2_Silent_p.A141A|AGAP2_ENST00000547588.1_Missense_Mutation_p.R1009S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1009					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R1009S(1)|p.R653S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACACGCGGTTGGCCGTG	0.672000													6	8					2.0095e-06	2.25098e-06	1	1	0
RBM19	9904	broad.mit.edu	37	12	114385258	114385258	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:114385258C>T	ENST00000545145.2	-	11	1366	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RBM19_ENST00000261741.5_Missense_Mutation_p.E430K|RBM19_ENST00000392561.3_Missense_Mutation_p.E430K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	430	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.E430K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGGAGCTCAGACAGGGGA	0.577000													9	17					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148418026	148418026	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:148418026C>T	ENST00000515425.1	-	8	934	c.833G>A	c.(832-834)gGt>gAt	p.G278D	SH3TC2_ENST00000512049.1_Missense_Mutation_p.G271D|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G163D|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	278	SH3.						binding	p.G278D(1)|p.G163D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCATAACCCGTCAAGGC	0.478000													60	44					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766518	110766518	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:110766518G>T	ENST00000369787.3	+	2	1638	c.1611G>T	c.(1609-1611)cgG>cgT	p.R537R	KCNC4_ENST00000438661.2_Silent_p.R537R|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.R537R	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	537					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R537R(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAGGAAACGGGCAGGTGAGA	0.562000													15	26					1.37285e-15	1.88587e-15	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41560998	41560998	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:41560998C>A	ENST00000400454.1	-	12	3001	c.2524G>T	c.(2524-2526)Gtg>Ttg	p.V842L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	842	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.V842L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTTCTCCCACCTCCTTGGTG	0.468000													62	71					6.52717e-41	1.04515e-40	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896592	89896592	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:89896592G>T	ENST00000534061.1	+	10	1420	c.1190G>T	c.(1189-1191)aGt>aTt	p.S397I	NAALAD2_ENST00000525171.1_Missense_Mutation_p.S304I|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S364I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	397	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.S397I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAACTGATGAGTAAAGGTAAA	0.423000													24	94					3.6726e-16	5.09867e-16	1	1	0
OR5H2	79310	broad.mit.edu	37	3	98001900	98001900	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:98001900G>A	ENST00000355273.2	+	1	169	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D57N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TATCTGGAATGACCCACAACT	0.413000													91	197					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617536	617536	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:617536C>G	ENST00000358353.3	-	16	2675	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	CDHR5_ENST00000397542.2_Missense_Mutation_p.E785Q|CDHR5_ENST00000349570.7_Missense_Mutation_p.E591Q			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	785					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E785Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TACCCGCCCTCCGGCCGCCGC	0.716000													5	20					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177571094	177571094	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:177571094C>T	ENST00000515098.1	+	8	1030	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RMND5B_ENST00000313386.4_Missense_Mutation_p.R227W|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214W			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	227								p.R227W(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTTGCTCGGCTGCACCA	0.637000													3	29					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268517	60268517	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:60268517G>T	ENST00000016913.4	+	3	333		c.e3-1		MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12							integral to membrane	receptor activity	p.?(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TCTTTTTTCAGGTGATCCAGA	0.353000													40	116					4.32679e-17	6.05519e-17	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140400120	140400120	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:140400120C>A	ENST00000406427.1	-	14	1755	c.1419G>T	c.(1417-1419)tcG>tcT	p.S473S	PNPLA7_ENST00000371457.1_Silent_p.S54S|PNPLA7_ENST00000277531.4_Silent_p.S448S	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.S448S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGATGGCATCCGACTTCCTGC	0.612000													32	39					1.74807e-11	2.25864e-11	1	1	0
OR4N2	390429	broad.mit.edu	37	14	20296313	20296313	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:20296313G>T	ENST00000315947.1	+	1	706	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A236S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAAAACAAGGCCATGTCCAC	0.502000													52	89					1.66251e-12	2.20821e-12	1	1	0
NDE1	54820	broad.mit.edu	37	16	15771799	15771799	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:15771799G>T	ENST00000396355.1	+	5	1205	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	NDE1_ENST00000342673.5_Missense_Mutation_p.A127S|NDE1_ENST00000396354.1_Missense_Mutation_p.A127S|NDE1_ENST00000396353.2_Missense_Mutation_p.A127S	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	127	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	p.A127S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CCTGGAAAGAGCCAAGCGGTA	0.537000													16	22					6.94344e-10	8.5483e-10	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450321	158450321	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158450321G>C	ENST00000368152.1	+	1	654	c.654G>C	c.(652-654)gtG>gtC	p.V218V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V218V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACGAATTTGTGATATTCATTT	0.413000													26	160					0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991699	6991699	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:6991699C>G	ENST00000256722.5	-	4	1107	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000404168.1_Missense_Mutation_p.D370H|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	370					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.D370H(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGATAAGGTCAGGTTTGAGC	0.607000													17	102					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635499	65635499	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:65635499G>C	ENST00000307998.6	-	10	1233	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	EFEMP2_ENST00000528176.1_Missense_Mutation_p.L335V	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	335					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.L335V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TCTCGACATAGAGGGTTGGAG	0.612000													3	49					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43304967	43304967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:43304967G>C	ENST00000361428.2	-	10	6846	c.6769C>G	c.(6769-6771)Cag>Gag	p.Q2257E	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2257					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.Q2257E(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGCATTCCCTGAGGGACCATA	0.473000													14	34					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554886	150554886	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:150554886C>A	ENST00000493429.1	+	4	1912	c.1328C>A	c.(1327-1329)gCg>gAg	p.A443E	AOC1_ENST00000467291.1_Missense_Mutation_p.A443E|AOC1_ENST00000360937.4_Missense_Mutation_p.A443E|AOC1_ENST00000416793.2_Missense_Mutation_p.A443E					amine oxidase, copper containing 1									p.A443E(1)									AACTTCTATGCGGGGCTGAAG	0.517000													43	23					6.68952e-21	9.72682e-21	1	1	0
IL12RB2	3595	broad.mit.edu	37	1	67787401	67787401	+	Missense_Mutation	SNP	C	C	G	rs140166116		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:67787401C>G	ENST00000262345.1	+	3	833	c.193C>G	c.(193-195)Cgt>Ggt	p.R65G	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R65G|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R65G|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R65G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	65					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.R65G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTATTCCAGACGTAACAAGTT	0.428000													31	97					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68862125	68862125	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:68862125A>G	ENST00000261769.5	+	14	2404	c.2213A>G	c.(2212-2214)aAa>aGa	p.K738R	CDH1_ENST00000422392.2_Missense_Mutation_p.K677R|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	738					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.K738R(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCGGTGGTCAAAGAGCCCTTA	0.512000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				35	34					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71098793	71098793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:71098793G>T	ENST00000396396.1	+	9	1537	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	436					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.E436D(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGACTATGAGGGGTTGGATC	0.488000													9	41					3.09899e-07	3.52434e-07	1	1	0
COL6A5	256076	broad.mit.edu	37	3	130095204	130095204	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:130095204C>T	ENST00000265379.6	+	3	686	c.192C>T	c.(190-192)gcC>gcT	p.A64A	COL6A5_ENST00000432398.2_Silent_p.A64A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	64	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.A64A(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCATAGAGGCCAACAAATACC	0.502000													4	20					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29390370	29390370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:29390370G>T	ENST00000320081.5	+	14	1942	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	CLIP4_ENST00000404424.1_Nonsense_Mutation_p.E563*|CLIP4_ENST00000401605.1_Nonsense_Mutation_p.E563*|CLIP4_ENST00000401617.2_Nonsense_Mutation_p.E456*	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	563								p.E563L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TACCCTTTCAGAAATTTCTTC	0.323000													19	64					3.8784e-16	5.3701e-16	1	1	0
IRS2	8660	broad.mit.edu	37	13	110434431	110434431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:110434431C>A	ENST00000375856.3	-	1	4484	c.3970G>T	c.(3970-3972)Gac>Tac	p.D1324Y		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1324				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.D1324Y(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GACAAGAAGTCAATGCTGGCG	0.701000													7	9					0.00448238	0.00462412	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417357	29417357	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:29417357G>T	ENST00000378993.1	+	5	1308	c.635G>T	c.(634-636)gGa>gTa	p.G212V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G212V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	212	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.G212V(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GATGACATTGGAAATTATACC	0.343000													11	10					0.00010058	0.000108477	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176762727	176762727	+	Silent	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:176762727C>G	ENST00000367662.3	+	20	6216	c.5052C>G	c.(5050-5052)ccC>ccG	p.P1684P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1684P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTAATCCCCCCCAGTGACC	0.468000													22	37					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143352393	143352393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:143352393C>A	ENST00000513000.1	-	5	453	c.20G>T	c.(19-21)gGg>gTg	p.G7V	INPP4B_ENST00000506217.1_Missense_Mutation_p.G7V|INPP4B_ENST00000262992.4_Missense_Mutation_p.G7V|INPP4B_ENST00000507861.1_Missense_Mutation_p.G7V|INPP4B_ENST00000508116.1_Missense_Mutation_p.G7V|INPP4B_ENST00000308502.4_Missense_Mutation_p.G7V|INPP4B_ENST00000509777.1_Missense_Mutation_p.G7V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	7					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.G7V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTGATGCCCCTTCCTCTTT	0.418000													7	22					0.000274275	0.000292187	1	1	0
SNX7	51375	broad.mit.edu	37	1	99156718	99156718	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:99156718G>C	ENST00000370189.5	+	4	623	c.259G>C	c.(259-261)Gca>Cca	p.A87P	SNX7_ENST00000529992.1_Missense_Mutation_p.A151P|SNX7_ENST00000306121.3_Missense_Mutation_p.A151P			Q9UNH6	SNX7_HUMAN	sorting nexin 7	87	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.A87P(1)|p.A151P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ACTGGAAGAAGCACACCCCAC	0.363000													11	24					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132294687	132294687	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:132294687C>T	ENST00000264990.6	-	17	2901	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	ACAD11_ENST00000545291.1_Missense_Mutation_p.E169K|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11									p.E644K(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AAAGCGCGTTCCGCCAAACCT	0.463000													10	60					0	0	1	0	0
SFRP5	6425	broad.mit.edu	37	10	99531423	99531423	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:99531423G>A	ENST00000266066.3	-	1	286	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	56	FZ.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I56I(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GGTCGGCAGGGATGTCAAGGC	0.687000													3	25					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873233	68873233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:68873233C>T	ENST00000303786.3	+	2	700	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R94C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	94						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R94C(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAAGAAACTGCGCAACCTCAC	0.552000													27	106					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:157557276C>G	ENST00000271532.1	-	5	772	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.E213K(1)|p.E213Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498000													32	176					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110531	72110531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:72110531G>T	ENST00000540303.2	+	5	630	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.V237F|HPR_ENST00000356967.5_Missense_Mutation_p.V200F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	200	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.V200F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAAGGTGCTTGTTAATGAGAG	0.458000													20	32					5.03518e-11	6.41065e-11	1	1	0
REG3G	130120	broad.mit.edu	37	2	79253889	79253889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:79253889G>A	ENST00000272324.5	+	3	311	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	REG3G_ENST00000409471.1_Missense_Mutation_p.G43S|REG3G_ENST00000393897.2_Missense_Mutation_p.G43S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	43					acute-phase response	extracellular region	sugar binding	p.G43S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTCCCAAAGGCTCCAAGGC	0.522000													19	17					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56163807	56163807	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:56163807G>T	ENST00000586790.1	+	5	1442	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	CCDC106_ENST00000308964.3_Missense_Mutation_p.D180Y|CCDC106_ENST00000591241.1_Missense_Mutation_p.D145Y|CCDC106_ENST00000591578.1_Missense_Mutation_p.D180Y|CCDC106_ENST00000588740.1_Missense_Mutation_p.D180Y			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	180						nucleus		p.D180Y(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAAGGACGCCGACGGGGTCCT	0.637000													19	10					1.01871e-10	1.28446e-10	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52497585	52497585	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:52497585C>T	ENST00000602063.1	-	6	1093	c.744G>A	c.(742-744)atG>atA	p.M248I	ZNF615_ENST00000391795.3_Missense_Mutation_p.M253I|ZNF615_ENST00000598071.1_Missense_Mutation_p.M259I|ZNF615_ENST00000594083.1_Missense_Mutation_p.M259I|ZNF615_ENST00000376716.5_Missense_Mutation_p.M248I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M259I(1)|p.M248I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTGATGGTCCATTAGTCTGG	0.383000													6	154					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301807	139301807	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:139301807G>A	ENST00000298537.7	-	4	751	c.540C>T	c.(538-540)gcC>gcT	p.A180A	SDCCAG3_ENST00000357365.3_Silent_p.A203A|SDCCAG3_ENST00000371725.3_Silent_p.A130A	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	203						cytoplasm		p.A203A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GCGACGTGCCGGCAGGGACCC	0.637000													4	2					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103542	53103542	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:53103542C>A	ENST00000408890.4	+	1	194	c.178C>A	c.(178-180)Cag>Aag	p.Q60K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	60								p.Q60K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGACTCAGAGCCATAT	0.701000													18	34					5.35267e-07	6.04782e-07	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9044623	9044623	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:9044623G>C	ENST00000382496.5	-	22	3632	c.2967C>G	c.(2965-2967)gtC>gtG	p.V989V	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	989					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.V989V(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGTAAGTATAGACGAGCAGGG	0.562000													12	140					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1574992	1574992	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:1574992C>A	ENST00000421627.2	+	4	1423	c.1289C>A	c.(1288-1290)tCc>tAc	p.S430Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	509					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S474Y(1)|p.S452Y(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAATTCCGCTCCCGGAACCAG	0.622000													5	3					0.184627	0.185337	1	1	0
ACOT1	641371	broad.mit.edu	37	14	74008311	74008311	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:74008311A>G	ENST00000311148.4	+	2	880	c.572A>G	c.(571-573)tAt>tGt	p.Y191C	ACOT1_ENST00000557556.1_Missense_Mutation_p.Y191C|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1									p.Y191C(1)		endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CTGGCTTACTATAACTATGAA	0.517000													41	37					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383364	39383364	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:39383364C>G	ENST00000545653.1	-	9	1164	c.634G>C	c.(634-636)Gat>Cat	p.D212H	DAB2_ENST00000509337.1_Missense_Mutation_p.D212H|DAB2_ENST00000320816.6_Missense_Mutation_p.D233H|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	233					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.D233H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AACAGGATATCTTTGCTTTCC	0.343000													13	170					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184648312	184648312	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:184648312G>A	ENST00000287546.4	+	33	3025	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.E950K|VPS8_ENST00000446204.2_Missense_Mutation_p.E860K|VPS8_ENST00000437079.3_Missense_Mutation_p.E952K	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	952							zinc ion binding	p.E952K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACACAGTGCAGAGGAGAAGCA	0.393000													8	47					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30925143	30925143	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:30925143G>C	ENST00000597505.1	-	30	4395	c.4396C>G	c.(4396-4398)Cgt>Ggt	p.R1466G	DCDC1_ENST00000339794.5_Missense_Mutation_p.R545G|DCDC1_ENST00000406071.2_Missense_Mutation_p.R201G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	227					intracellular signal transduction			p.R153G(1)|p.R545G(1)		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)					ACCAAATCACGCAAGGTAAAG	0.428000													3	9					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148770567	148770567	+	Translation_Start_Site	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:148770567T>G	ENST00000333104.4	+	0	84							P43364	MAGAB_HUMAN	melanoma antigen family A, 11							cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCCCTTTCATAGAGGTGGGT	0.507000													30	44					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072901	17072901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:17072901C>A	ENST00000359963.3	-	1	799	c.540G>T	c.(538-540)ttG>ttT	p.L180F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	180					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.L180F(1)		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)				CCAGCTTGGTCAAGTGGTCCA	0.622000													11	82					5.50884e-06	6.10534e-06	1	1	0
ANKRD23	200539	broad.mit.edu	37	2	97506548	97506548	+	Silent	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:97506548T>G	ENST00000318357.4	-	4	443	c.402A>C	c.(400-402)ggA>ggC	p.G134G	ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Silent_p.G134G|ANKRD23_ENST00000331001.2_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	134						nucleus		p.G134G(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TGGGGTCCCCTCCGTCTGTCA	0.602000													19	80					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796253	41796253	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:41796253G>T	ENST00000263800.6	-	20	2632	c.2536C>A	c.(2536-2538)Ccc>Acc	p.P846T	LTK_ENST00000453182.2_Missense_Mutation_p.P716T|LTK_ENST00000355166.5_Missense_Mutation_p.P785T|LTK_ENST00000561619.1_Missense_Mutation_p.P544T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	846					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P846T(1)|p.P785T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATTTGAGGGGCTTGAGGCCA	0.607000										TSP Lung(18;0.14)			26	13					3.1745e-13	4.27084e-13	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190068088	190068088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:190068088G>T	ENST00000367462.3	-	8	1592	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	FAM5C_ENST00000534846.1_Missense_Mutation_p.P352Q|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		454						extracellular region		p.P454Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCGGTTGTCTGGTGCGCATGT	0.632000													27	73					2.48779e-11	3.19073e-11	1	1	0
TAP2	6891	broad.mit.edu	37	6	32797239	32797239	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:32797239C>T	ENST00000374897.2	-	11	2001	c.1870G>A	c.(1870-1872)Gac>Aac	p.D624N	TAP2_ENST00000452392.2_Missense_Mutation_p.D624N|TAP2_ENST00000374899.4_Missense_Mutation_p.D624N	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	624	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.D624N(2)									ACCCGCGGGTCTCGTACAAGG	0.607000													9	20					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170655	159170655	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:159170655C>T	ENST00000368125.4	+	9	1297	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.I414I|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	380					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.I414I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACGGCCATCATCAATGCAG	0.597000													13	88					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	43					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16696555	16696555	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:16696555G>C	ENST00000443824.1	-	10	1767	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	CTPS2_ENST00000380241.3_Missense_Mutation_p.L342V|CTPS2_ENST00000359276.4_Missense_Mutation_p.L342V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	342	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	p.L342V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATCTTCTCCAGATCAATGGAG	0.403000													3	10					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703699	55703699	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55703699G>C	ENST00000301532.3	-	1	177	c.178C>G	c.(178-180)Ccc>Gcc	p.P60A		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P60A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATACATGGGGGTTTGAAGG	0.393000													11	27					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782852	115782852	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:115782852C>A	ENST00000343348.6	-	19	3337	c.2550G>T	c.(2548-2550)ctG>ctT	p.L850L	SEMA6A_ENST00000503865.1_Silent_p.L229L|SEMA6A_ENST00000282394.6_Silent_p.L327L|SEMA6A_ENST00000257414.8_Silent_p.L867L|SEMA6A_ENST00000513137.1_Silent_p.L277L|SEMA6A_ENST00000510263.1_Silent_p.L850L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	850					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.L850L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTTATACTCCAGTGTGGCGG	0.592000													99	91					2.38877e-60	3.88455e-60	1	1	0
RNASE7	84659	broad.mit.edu	37	14	21511199	21511199	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:21511199G>T	ENST00000298690.4	+	2	305	c.48G>T	c.(46-48)ctG>ctT	p.L16L	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	16					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.L16L(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCTTCTGCTGCTGGGGCTGT	0.597000													9	17					0.00448238	0.00462412	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36779860	36779860	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:36779860C>A	ENST00000416516.2	-	2	781	c.291G>T	c.(289-291)agG>agT	p.R97S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	97						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R97S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATTTCCCCCTCCCCCACT	0.587000													69	105					6.52717e-41	1.04515e-40	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912097	150912097	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:150912097G>A	ENST00000329903.4	+	6	1155	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	374					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.M374I(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTCCATGATCTCCAACA	0.517000													14	30					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108380278	108380278	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:108380278G>C	ENST00000223528.2	+	8	1073	c.949G>C	c.(949-951)Gat>Cat	p.D317H	FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.D317H|FKTN_ENST00000357998.5_Missense_Mutation_p.D317H|FKTN_ENST00000448551.2_Missense_Mutation_p.D317H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	317					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	p.D317H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTATAGCAAAGATGTTGACCT	0.294000													6	22					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1269653	1269653	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:1269653C>T	ENST00000446702.2	+	4	961	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	CNTN6_ENST00000350110.2_Missense_Mutation_p.R112W|CNTN6_ENST00000539053.1_Missense_Mutation_p.R40W			Q9UQ52	CNTN6_HUMAN	contactin 6	112	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.R112W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATTCTGAGTCGGAAGGCAAA	0.408000													18	73					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109562458	109562458	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:109562458G>A	ENST00000356711.2	+	16	1945	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	MYO16_ENST00000251041.5_Missense_Mutation_p.E607K|MYO16_ENST00000357550.2_Missense_Mutation_p.E607K|MYO16_ENST00000457511.2_Missense_Mutation_p.E119K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	607	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.E607K(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATCTGCTGAAGAAAAATATGG	0.348000													38	103					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87011402	87011402	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:87011402G>T	ENST00000331536.3	+	12	1260	c.1075G>T	c.(1075-1077)Gta>Tta	p.V359L	CROT_ENST00000442291.1_Missense_Mutation_p.V359L|CROT_ENST00000419147.2_Missense_Mutation_p.V387L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	359					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.V359L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTCAGAGAAGGTACGAGATAT	0.338000													19	43					1.01871e-10	1.28446e-10	1	1	0
CDC25A	993	broad.mit.edu	37	3	48207330	48207330	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:48207330A>T	ENST00000302506.3	-	11	1491	c.1083T>A	c.(1081-1083)tcT>tcA	p.S361S	CDC25A_ENST00000351231.3_Silent_p.S321S|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	361					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S361S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAATTTCTGGAGAGATGTATT	0.358000													73	127					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592001	22592001	+	RNA	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:22592001G>T	ENST00000390455.3	+	0	295																											TCCATGGATTGCGCTGAAGGA	0.468000													47	59					1.4374e-25	2.21334e-25	1	1	0
AKR1C2	1646	broad.mit.edu	37	10	5040898	5040898	+	Missense_Mutation	SNP	G	G	C	rs139670873		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:5040898G>C	ENST00000380753.4	-	5	676	c.489C>G	c.(487-489)atC>atG	p.I163M	AKR1C2_ENST00000421196.3_Missense_Mutation_p.I137M|AKR1C2_ENST00000407674.1_Missense_Mutation_p.I163M	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	163					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.I163M(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TGGACACCCCGATGGACTTGG	0.512000													3	61					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143047543	143047543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:143047543C>A	ENST00000343257.2	+	21	2569	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	828	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L828M(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCCCTTCCAGCTGGTGGAGCA	0.567000													39	27					1.49673e-21	2.2133e-21	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10906288	10906288	+	Splice_Site	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:10906288G>C	ENST00000283141.6	+	9	972		c.e9+1		RP11-637O19.3_ENST00000480294.1_Splice_Site|SYCP2L_ENST00000543878.1_Splice_Site	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus		p.?(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTGTGGGTGGTAAGAAATTT	0.333000													6	168					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870761	101870761	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:101870761A>G	ENST00000360264.3	+	21	3298	c.3278A>G	c.(3277-3279)gAg>gGg	p.E1093G	CUX1_ENST00000546411.2_Missense_Mutation_p.E980G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E924G|CUX1_ENST00000550008.2_Missense_Mutation_p.E1026G|CUX1_ENST00000549414.2_Missense_Mutation_p.E1060G|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.E1082G|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1082					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E1082G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCCCATCGAGGCGAGCAAG	0.677000													34	46					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379284	186379284	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:186379284C>G	ENST00000307588.3	-	6	2532	c.2457G>C	c.(2455-2457)ttG>ttC	p.L819F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L819F|CCDC110_ENST00000393540.3_Missense_Mutation_p.L782F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	819			L -> M (in dbSNP:rs34800518).			nucleus		p.L819F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCGTACCTTTCAAATCCGAAG	0.368000													3	36					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872733	51872733	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:51872733G>T	ENST00000371497.5	+	2	3623	c.2736G>T	c.(2734-2736)ggG>ggT	p.G912G	TSHZ2_ENST00000603338.2_Silent_p.G909G|TSHZ2_ENST00000329613.6_Silent_p.G909G|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	912					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G912G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAACGGGCGGGACAAAATTTC	0.473000													13	53					4.14922e-12	5.44194e-12	1	1	0
GPR21	2844	broad.mit.edu	37	9	125797349	125797349	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:125797349G>T	ENST00000373642.1	+	1	544	c.504G>T	c.(502-504)tgG>tgT	p.W168C	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	168						integral to plasma membrane	G-protein coupled receptor activity	p.W168C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TTTTCCACTGGGGCAAACCTG	0.488000													31	68					4.34311e-12	5.68196e-12	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226923450	226923450	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:226923450G>T	ENST00000429204.1	-	2	2037	c.1710C>A	c.(1708-1710)atC>atA	p.I570I	ITPKB_ENST00000272117.3_Silent_p.I570I|ITPKB_ENST00000366784.1_Silent_p.I570I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	570							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.I96I(1)|p.I570I(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCTGTAATGATGACAGCAG	0.612000													4	45					0.150653	0.151524	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711550	195711550	+	RNA	SNP	T	T	C	rs4927694	by1000genomes	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:195711550T>C	ENST00000427841.1	-	0	397					NR_003264.2																						CACGGTGTCATAGAAATGCCA	0.592000													6	21					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106534	168106534	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:168106534G>A	ENST00000409195.1	+	9	8721	c.8632G>A	c.(8632-8634)Gaa>Aaa	p.E2878K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2656K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2878K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2703					actin cytoskeleton organization	cell junction	actin binding	p.E2878K(1)		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						ACAGACCGCTGAAAGTAAAGC	0.393000													5	111					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503915	70503915	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:70503915C>A	ENST00000310961.5	+	22	2727	c.2309C>A	c.(2308-2310)aCt>aAt	p.T770N	LRRC7_ENST00000035383.5_Missense_Mutation_p.T765N|LRRC7_ENST00000415775.2_Missense_Mutation_p.T49N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	765						centrosome|focal adhesion|nucleolus	protein binding	p.T765N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GATACTTTCACTGACAACTGG	0.507000													31	101					1.22384e-17	1.72195e-17	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803401	185803401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:185803401C>A	ENST00000302277.6	+	4	3872	c.3278C>A	c.(3277-3279)aCc>aAc	p.T1093N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1093						intracellular	zinc ion binding	p.T1093N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGTTCTACCTCTGTAACC	0.537000													24	79					7.38237e-10	9.046e-10	1	1	0
LOC146880	146880	broad.mit.edu	37	17	62748024	62748024	+	RNA	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:62748024T>A	ENST00000400873.3	-	0	2285					NR_026899.1																						CGCCTCCACATTCTTCAATCA	0.338000													18	89					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604410	64604410	+	Silent	SNP	C	C	T	rs147432161		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:64604410C>T	ENST00000342711.5	-	10	1286	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	429					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L429L(1)		central_nervous_system(1)|lung(3)	4						GCTTCCTGCTCAGCTCCACCT	0.662000													9	61					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21944462	21944462	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:21944462C>G	ENST00000542643.2	-	7	372	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E88Q|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E24Q|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E55Q|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E24Q	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	24					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	p.E55Q(1)|p.E24Q(1)|p.E166Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TAGTCCTCCTCTGTCTGCAAA	0.597000													12	43					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386199	65386199	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:65386199G>A	ENST00000355703.3	+	6	1905	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	456	Ser-rich.					integral to membrane		p.E337K(2)|p.E456K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTACTCCCCTGAGAGCTCCCG	0.657000													3	27					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117173	100117173	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:100117173C>T	ENST00000372966.3	-	7	996	c.791G>A	c.(790-792)gGg>gAg	p.G264E	NOX1_ENST00000372960.4_Missense_Mutation_p.G227E|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G264E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	264	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	p.G264E(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGGGGGATGCCCTTCAAACTT	0.453000													25	23					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248637272C>A	ENST00000359594.2	+	1	646	c.621C>A	c.(619-621)tgC>tgA	p.C207*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537000													87	137					4.08182e-41	6.57627e-41	1	1	0
CLIP4	79745	broad.mit.edu	37	2	29390371	29390371	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:29390371A>T	ENST00000320081.5	+	14	1943	c.1688A>T	c.(1687-1689)gAa>gTa	p.E563V	CLIP4_ENST00000404424.1_Missense_Mutation_p.E563V|CLIP4_ENST00000401605.1_Missense_Mutation_p.E563V|CLIP4_ENST00000401617.2_Missense_Mutation_p.E456V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	563								p.E563L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ACCCTTTCAGAAATTTCTTCA	0.323000													20	65					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31115714	31115714	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:31115714G>A	ENST00000597505.1	-	14	2000	c.2001C>T	c.(1999-2001)gtC>gtT	p.V667V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	82					intracellular signal transduction			p.V286V(1)		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)					AGGCATGAAGGACAATATTGG	0.423000													9	23					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636694	83636694	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:83636694C>T	ENST00000265362.3	-	10	1429	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R372K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	372	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.R372K(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAGGGGACTCTTCCTTGATA	0.443000													9	74					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799844	75799844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:75799844C>A	ENST00000322507.8	-	63	9232	c.8923G>T	c.(8923-8925)Gga>Tga	p.G2975*	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.G1811*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.G2971*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.G2899*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2975	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2975*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGGGGGTCCCTGCATCCCT	0.612000													42	130					1.76056e-25	2.70297e-25	1	1	0
MMP27	64066	broad.mit.edu	37	11	102573542	102573542	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:102573542C>A	ENST00000260229.4	-	4	652	c.561G>T	c.(559-561)ccG>ccT	p.P187P		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	187					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P187P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCCAGACCCGGACCAGGAG	0.443000													18	78					9.16793e-09	1.09512e-08	1	1	0
F12	2161	broad.mit.edu	37	5	176832080	176832080	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:176832080G>A	ENST00000253496.3	-	6	552	c.504C>T	c.(502-504)gcC>gcT	p.A168A		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	168	Fibronectin type-I.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	p.A168A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGCAGTGGGCATCAGGAC	0.602000									Hereditary Angioedema				12	21					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631687	22631687	+	RNA	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:22631687C>A	ENST00000390458.3	+	0	390																											TCTTCTTAAACAAAAGTGCCA	0.453000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0.00116845	0.00121986	1	1	0
CDC20	991	broad.mit.edu	37	1	43825017	43825017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:43825017G>T	ENST00000372462.1	+	1	334	c.131G>T	c.(130-132)cGg>cTg	p.R44L	CDC20_ENST00000310955.6_Missense_Mutation_p.R44L			Q12834	CDC20_HUMAN	cell division cycle 20	44					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	p.R44L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCACCCATGCGGGCCGCCAAC	0.657000													16	24					1.67942e-08	1.98338e-08	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769413	247769413	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:247769413C>A	ENST00000320002.2	+	1	558	c.526C>A	c.(526-528)Cat>Aat	p.H176N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGGCTGGACCATTTTATTTG	0.448000													38	65					4.44401e-20	6.39056e-20	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114499818	114499818	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:114499818C>G	ENST00000369558.1	+	7	1897	c.1665C>G	c.(1663-1665)atC>atG	p.I555M	HIPK1_ENST00000406344.1_Missense_Mutation_p.I161M|HIPK1_ENST00000369554.2_Missense_Mutation_p.I555M|HIPK1_ENST00000369555.2_Missense_Mutation_p.I555M|HIPK1_ENST00000369553.1_Missense_Mutation_p.I161M|HIPK1_ENST00000369559.4_Missense_Mutation_p.I555M|HIPK1_ENST00000426820.2_Missense_Mutation_p.I555M|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000340480.4_Missense_Mutation_p.I181M			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.I555M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAGTCAGATCAAGAGTCCCT	0.393000													11	76					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88996731	88996731	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:88996731C>T	ENST00000237596.2	+	15	2858	c.2792C>T	c.(2791-2793)aCg>aTg	p.T931M	PKD2_ENST00000502363.1_Missense_Mutation_p.T349M|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.T349M	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	931	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.T931M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGTTTAGGCACGCCAGTGGGA	0.527000													40	40					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118525409	118525409	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:118525409C>T	ENST00000311085.8	+	29	7222	c.7142C>T	c.(7141-7143)tCa>tTa	p.S2381L	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2381L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2381								p.S2381L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAGTTTCTTCACTAGTTGAA	0.363000													17	38					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302569	161302569	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:161302569G>A	ENST00000428797.2	+	7	835	c.480G>A	c.(478-480)ctG>ctA	p.L160L	GABRA1_ENST00000444819.1_Silent_p.L160L|GABRA1_ENST00000420560.1_Silent_p.L160L|GABRA1_ENST00000393943.4_Silent_p.L160L|GABRA1_ENST00000023897.6_Silent_p.L160L|GABRA1_ENST00000437025.2_Silent_p.L160L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	160					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L160L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCTTAAGGCTGACAGTGAGAG	0.368000													26	19					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000263441.7_Silent_p.T388T|DNAJC6_ENST00000371069.4_Silent_p.T458T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413000													9	33					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71427796	71427796	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:71427796A>T	ENST00000392650.3	-	11	1325	c.1325T>A	c.(1324-1326)tTg>tAg	p.L442*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.L442*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	442	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.L442*(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCACTGGCCAAGATGCGCTC	0.672000													3	27					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214604	156214604	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:156214604G>C	ENST00000335852.1	-	6	1005	c.390C>G	c.(388-390)ctC>ctG	p.L130L	PAQR6_ENST00000540423.1_Silent_p.L233L|PAQR6_ENST00000360733.2_Silent_p.L130L|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Silent_p.L130L|PAQR6_ENST00000292291.5_Silent_p.L236L|PAQR6_ENST00000368270.1_Silent_p.L212L	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	236						integral to membrane	receptor activity	p.L130L(1)|p.L236L(1)		lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGGAGGCGAAGAGGAAGCCAG	0.672000													10	63					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744398	61744398	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:61744398C>T	ENST00000361357.3	+	7	891	c.573C>T	c.(571-573)ccC>ccT	p.P191P	MAP3K3_ENST00000584573.1_Silent_p.P191P|MAP3K3_ENST00000579585.1_Silent_p.P191P|MAP3K3_ENST00000361733.3_Silent_p.P160P|MAP3K3_ENST00000577395.1_Silent_p.P160P	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	160					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.P160P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCCCCGAGCCCAGAAGCAGGC	0.478000													12	41					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12331089	12331089	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:12331089G>A	ENST00000358136.3	+	17	2141	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E671K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	671					protein localization			p.E671*(1)|p.E671K(1)		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)		GAGAGTGGCTGAAGCTGCCCG	0.458000													5	50					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48439200	48439200	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:48439200G>C	ENST00000321341.5	+	4	544	c.272G>C	c.(271-273)aGa>aCa	p.R91T	ME2_ENST00000382927.3_Missense_Mutation_p.R91T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	91					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.R91T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	ATACAAGAAAGAAATGAGAAA	0.348000													20	81					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925077	27925077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:27925077G>T	ENST00000244623.1	+	1	59	c.59G>T	c.(58-60)cGa>cTa	p.R20L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCTCAGATCGACCTTGGCTG	0.418000													43	46					8.04919e-23	1.21436e-22	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559034	140559034	+	Missense_Mutation	SNP	C	C	A	rs113701735		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140559034C>A	ENST00000239444.2	+	1	1664	c.1419C>A	c.(1417-1419)agC>agA	p.S473R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		473	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S473R(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662000													54	541					1.31726e-23	2.0047e-23	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4207248	4207248	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:4207248G>T	ENST00000600132.1	+	8	752	c.476G>T	c.(475-477)gGc>gTc	p.G159V	ANKRD24_ENST00000262970.5_Missense_Mutation_p.G249V|ANKRD24_ENST00000318934.4_Missense_Mutation_p.G159V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	159								p.G249V(1)|p.G51V(1)|p.G159V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCGGCTGGTGGCTGTCTCTCC	0.537000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	8					0.00136819	0.0014227	1	1	0
B3GALTL	145173	broad.mit.edu	37	13	31898026	31898026	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:31898026C>T	ENST00000343307.4	+	14	1472	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	441					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.F441F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCCCTCTCTTCCATCAGGTGA	0.463000													92	144					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGACCAAAATCACCTATTTTT	0.378000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	68					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:42299711C>T	ENST00000396169.2	-	5	1132	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_ENST00000434608.1_Missense_Mutation_p.R76Q|CCK_ENST00000334681.5_Missense_Mutation_p.R76Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000													11	46					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61084791	61084791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:61084791G>T	ENST00000196169.3	+	10	1552	c.764G>T	c.(763-765)aGa>aTa	p.R255I	TDRD3_ENST00000377881.2_Missense_Mutation_p.R255I|TDRD3_ENST00000377894.2_Missense_Mutation_p.R255I|TDRD3_ENST00000535286.1_Missense_Mutation_p.R348I	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	255					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.R255I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGGCGAATAAGATCTGAAGAT	0.368000													15	28					1.5739e-10	1.9702e-10	1	1	0
MIR147A	406939	broad.mit.edu	37	9	123007264	123007264	+	RNA	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:123007264C>A	ENST00000385079.1	-	0	64					NR_029604.1																						CAGAATCTAGCAGAAGCATTT	0.418000													11	27					3.27435e-08	3.84958e-08	1	1	0
HAO1	54363	broad.mit.edu	37	20	7920967	7920967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:7920967C>A	ENST00000378789.3	-	1	154	c.103G>T	c.(103-105)Gaa>Taa	p.E35*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	35	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.E35*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAAAGTTTCTTCATCATTT	0.323000													18	10					2.35188e-11	3.02385e-11	1	1	0
OR2T6	254879	broad.mit.edu	37	1	248550931	248550931	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248550931T>A	ENST00000355728.2	+	1	22	c.22T>A	c.(22-24)Ttg>Atg	p.L8M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L8M(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGAAACCTTGACCAGAGG	0.403000													32	61					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433434	55433434	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55433434C>T	ENST00000314259.3	+	1	821	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACTCACCCCATAGACAAGG	0.483000													19	50					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66928614	66928614	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:66928614A>T	ENST00000269080.2	-	6	749	c.612T>A	c.(610-612)gtT>gtA	p.V204V	ABCA8_ENST00000430352.2_Silent_p.V204V|ABCA8_ENST00000586539.1_Silent_p.V204V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	204						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V204V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTTTCCAGTAACTGACATCA	0.338000													16	65					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27159959	27159959	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:27159959C>T	ENST00000335625.5	+	7	1395	c.507C>T	c.(505-507)atC>atT	p.I169I	GABRA5_ENST00000400081.3_Silent_p.I169I|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.I169I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	169					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.I169I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTTGACCATCTCTGCAGAGT	0.468000													9	17					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52561526	52561526	+	Missense_Mutation	SNP	G	G	A	rs147771144		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:52561526G>A	ENST00000395961.3	-	12	1856	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	BCAS1_ENST00000371440.3_Missense_Mutation_p.R573W|BCAS1_ENST00000371435.2_Missense_Mutation_p.R486W|BCAS1_ENST00000434986.2_Missense_Mutation_p.R230W	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	564						cytoplasm	protein binding	p.R564W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCAACATCCGCTTTGGTCCC	0.478000													25	139					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143297460	143297460	+	Silent	SNP	T	T	A	rs151096476	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:143297460T>A	ENST00000316549.6	-	7	1069	c.861A>T	c.(859-861)gcA>gcT	p.A287A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	287					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.A287A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGACCCCATTGCAAATGAGC	0.458000													11	24					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92564916	92564916	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:92564916A>T	ENST00000298047.6	+	13	9627	c.9610A>T	c.(9610-9612)Agc>Tgc	p.S3204C	FAT3_ENST00000525166.1_Missense_Mutation_p.S3054C|FAT3_ENST00000409404.2_Missense_Mutation_p.S3204C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3204	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S3204C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTACAACATCAGCGTGCGGGC	0.557000										TCGA Ovarian(4;0.039)			7	10					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204055	9204055	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:9204055C>T	ENST00000429566.3	+	1	201	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACCTGCTCATCATCCTGGCCA	0.547000													10	37					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109610051	109610051	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:109610051C>A	ENST00000356711.2	+	17	2001	c.1875C>A	c.(1873-1875)acC>acA	p.T625T	MYO16_ENST00000251041.5_Silent_p.T625T|MYO16_ENST00000357550.2_Silent_p.T625T|MYO16_ENST00000457511.2_Silent_p.T137T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	625	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.T625T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAACCAGACCATACAGGATG	0.483000													3	37					1	1	1	1	0
RAET1G	353091	broad.mit.edu	37	6	150240366	150240366	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:150240366G>A	ENST00000367360.2	-	3	511	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Silent_p.F148F|RP11-244K5.1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	148	MHC class I alpha-2 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	p.F148F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CAAAGAGGAGGAAGATCTGTC	0.507000													5	74					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40996835	40996835	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:40996835G>C	ENST00000253799.3	+	1	219	c.192G>C	c.(190-192)ttG>ttC	p.L64F	AOC2_ENST00000452774.2_Missense_Mutation_p.L64F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	64					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.L64F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGAGGAGTTGACAGCTGTGA	0.657000													64	238					0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121752	41121752	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:41121752G>A	ENST00000373127.4	-	2	168	c.120C>T	c.(118-120)taC>taT	p.Y40Y	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Silent_p.Y40Y	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	40	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	p.Y40Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGGAGCCTGTAGTGGCACT	0.627000													25	24					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118196	58118196	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:58118196C>T	ENST00000373944.3	-	8	855	c.817G>A	c.(817-819)Gat>Aat	p.D273N	ZWINT_ENST00000361148.6_Missense_Mutation_p.D226N|ZWINT_ENST00000318387.2_Missense_Mutation_p.D153N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.D273N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	273					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.D273N(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AAATTTACATCTCCAGCAGGT	0.522000													17	31					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72332251	72332251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:72332251G>T	ENST00000340595.3	+	10	1652	c.1456G>T	c.(1456-1458)Gga>Tga	p.G486*	SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.G530*|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.G530*|SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.G486*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.G530*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	530						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.G530*(1)|p.G486*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGCAGCACCGGACCTGTCCT	0.393000													21	99					4.96729e-08	5.81373e-08	1	1	0
ALOXE3	59344	broad.mit.edu	37	17	8012568	8012568	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:8012568G>A	ENST00000380149.1	-	11	1984	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	ALOXE3_ENST00000448843.2_Missense_Mutation_p.R496W|ALOXE3_ENST00000318227.3_Missense_Mutation_p.R628W			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	496	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	p.R628W(1)|p.R496W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CCGCGGGCCCGCAGGCTGTCC	0.647000													16	11					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107422492	107422492	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:107422492C>T	ENST00000334504.7	-	26	2541	c.2308G>A	c.(2308-2310)Ggg>Agg	p.G770R	COL4A6_ENST00000372216.4_Missense_Mutation_p.G771R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G771R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G770R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G770R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	771	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G770R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTGTGCCCTGTTAATCCT	0.468000									Alport syndrome with Diffuse Leiomyomatosis				14	17					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54020195	54020195	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:54020195C>T	ENST00000338154.6	-	13	1969	c.1465G>A	c.(1465-1467)Ggt>Agt	p.G489S	PHF8_ENST00000357988.5_Missense_Mutation_p.G525S|PHF8_ENST00000338946.6_Intron|PHF8_ENST00000322659.8_Missense_Mutation_p.G489S	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	525					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.G489S(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCTTTGAACCATTTTTGGAG	0.562000													22	11					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296127	47296127	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:47296127G>A	ENST00000342922.4	+	3	433	c.76G>A	c.(76-78)Gat>Aat	p.D26N	MADD_ENST00000395336.3_Missense_Mutation_p.D26N|MADD_ENST00000406482.1_Missense_Mutation_p.D26N|MADD_ENST00000395344.3_Missense_Mutation_p.D26N|MADD_ENST00000407859.3_Missense_Mutation_p.D26N|MADD_ENST00000402799.1_Missense_Mutation_p.D26N|MADD_ENST00000349238.3_Missense_Mutation_p.D26N|MADD_ENST00000402192.2_Missense_Mutation_p.D26N|MADD_ENST00000311027.5_Missense_Mutation_p.D26N	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	26	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.D26N(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCGAGCAGTGATAGCGTGGC	0.498000													34	104					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681648	44681648	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44681648C>G	ENST00000590089.1	+	7	2600	c.2233C>G	c.(2233-2235)Cat>Gat	p.H745D	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.H745D|ZNF226_ENST00000454662.2_Missense_Mutation_p.H745D			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H745D(1)					Prostate(69;0.0352)|all_neural(266;0.202)				ACTACAGTCTCATCAGCGAGT	0.423000													4	80					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102916010	102916010	+	RNA	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:102916010C>T	ENST00000312132.4	-	0	769																											AAAGTCATCTCCCGTTCCAAA	0.353000													10	22					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874472	46874472	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:46874472C>A	ENST00000429665.1	-	3	595	c.596G>T	c.(595-597)aGg>aTg	p.R199M	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	199	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R199M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACCCAGCACCTGGTCCTACC	0.537000													29	33					2.24059e-21	3.29462e-21	1	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896599	111896599	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:111896599C>T	ENST00000375741.2	+	9	1221	c.971C>T	c.(970-972)tCt>tTt	p.S324F	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.S231F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.S146F|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S221F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S303F|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S146F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S146F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.S146F|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S68F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S274F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	324	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.S303F(1)|p.S146F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAATATGTTCTTTCCAGCAA	0.308000													10	46					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124551353	124551353	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:124551353G>C	ENST00000532692.1	+	2	1644	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	SPA17_ENST00000227135.2_Missense_Mutation_p.E75Q|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	75					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	p.E75Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCATGCATTCGAGGTATGGTC	0.378000													6	37					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97312032	97312032	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:97312032C>T	ENST00000517309.1	+	6	1037	c.711C>T	c.(709-711)tgC>tgT	p.C237C	PTDSS1_ENST00000455950.2_Silent_p.C91C|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.C34C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	237					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.C237C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGGTCGTTTGCCGGTTTTTAG	0.448000													71	46					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9666271	9666271	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:9666271C>T	ENST00000310823.3	-	6	904	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ADAM17_ENST00000497134.1_Missense_Mutation_p.R241K	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	241	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.R241K(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTCTTCCCCTCTGCCCATGTA	0.378000													10	206					0	0	1	0	0
IGLC2	3538	broad.mit.edu	37	22	23243366	23243366	+	RNA	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:23243366A>T	ENST00000390323.2	+	0	211																											GCCAGCAGCTATCTGAGCCTG	0.592000													14	42					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107422489	107422489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:107422489G>T	ENST00000334504.7	-	26	2544	c.2311C>A	c.(2311-2313)Cac>Aac	p.H771N	COL4A6_ENST00000372216.4_Missense_Mutation_p.H772N|COL4A6_ENST00000394872.2_Missense_Mutation_p.H772N|COL4A6_ENST00000545689.1_Missense_Mutation_p.H771N|COL4A6_ENST00000538570.1_Missense_Mutation_p.H771N	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	772	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.H771N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AATCCTTTGTGCCCTGTTAAT	0.468000									Alport syndrome with Diffuse Leiomyomatosis				14	18					0.000566183	0.000599488	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83590774	83590774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:83590774G>T	ENST00000265362.3	-	17	2543	c.2229C>A	c.(2227-2229)aaC>aaA	p.N743K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N743K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	743	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity	p.N743K(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATTTGTTACTGTTCCCTGGGG	0.473000													60	101					1.53716e-24	2.35307e-24	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44471325	44471325	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44471325G>T	ENST00000251269.5	+	6	1999	c.1671G>T	c.(1669-1671)ggG>ggT	p.G557G	ZNF221_ENST00000592350.1_Silent_p.G557G|ZNF221_ENST00000587682.1_Silent_p.G557G	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	557			G -> R (in dbSNP:rs366111).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G557V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGGTCCACGGGGGAGAGCGAC	0.448000													16	26					6.2361e-21	9.14395e-21	1	1	0
CDH10	1008	broad.mit.edu	37	5	24491686	24491686	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:24491686C>A	ENST00000264463.4	-	11	2382	c.1876_splice	c.e11+1	p.L625_splice	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	625					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L625L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTTTCTTACCCAGTAGAATGA	0.483000										HNSCC(23;0.051)			26	116					7.38237e-10	9.046e-10	1	1	0
GRID1	2894	broad.mit.edu	37	10	87615902	87615902	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:87615902C>A	ENST00000327946.7	-	7	1082	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	333						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.A333S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGTGAAAGGCGTTGGCCAGC	0.512000										Multiple Myeloma(13;0.14)			17	32					9.16793e-09	1.09512e-08	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	124					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066916	73066916	+	RNA	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:73066916C>G	ENST00000429829.1	-	0	5672					NR_001564.2																						GCTAACTTTACTAGTCTAAGG	0.388000													6	8					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124196146	124196146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:124196146C>T	ENST00000360013.3	+	27	4277	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.Q1384*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.Q1375*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1384	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.Q1384*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGATTCCAACCAGCTTATCCT	0.403000													29	55					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235418974	235418974	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235418974C>A	ENST00000264183.3	-	5	772		c.e5+1		ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.?(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TATTTTCTTACCTACAGTGTA	0.303000													17	14					1.67942e-08	1.98338e-08	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3085352	3085352	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:3085352G>C	ENST00000397461.1	+	22	3159	c.2775G>C	c.(2773-2775)aaG>aaC	p.K925N	CNTN4_ENST00000427331.1_Missense_Mutation_p.K925N|CNTN4_ENST00000418658.1_Missense_Mutation_p.K925N|CNTN4_ENST00000448906.2_Missense_Mutation_p.K597N|CNTN4_ENST00000358480.3_Missense_Mutation_p.K706N|CNTN4_ENST00000397459.2_Missense_Mutation_p.K597N|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	925	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.K925N(1)|p.K597N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCAAGTGAAGGCCCTGGATA	0.413000													6	27					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65561824	65561824	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:65561824C>G	ENST00000356388.4	-	3	477	c.288G>C	c.(286-288)agG>agC	p.R96S	SPRED2_ENST00000443619.2_Missense_Mutation_p.R93S|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	96	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.R96S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCCAAACTTCCTATTATCGA	0.448000													5	112					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13866016	13866016	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:13866016C>A	ENST00000265104.4	-	27	4221		c.e27-1		CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAATTGATTCTAATAAAAAC	0.333000									Kartagener syndrome				53	37					7.34454e-26	1.13428e-25	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17446099	17446099	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:17446099A>G	ENST00000262545.2	+	11	1646	c.1331A>G	c.(1330-1332)tAc>tGc	p.Y444C	PCSK2_ENST00000536609.1_Missense_Mutation_p.Y409C|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.Y425C	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	444					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.Y444C(1)		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)	CTCTTTGGCTACGGGGTCCTT	0.562000													6	8					0	0	1	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010788	85010788	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:85010788G>A	ENST00000313732.4	-	7	1015	c.663C>T	c.(661-663)atC>atT	p.I221I	ZDHHC7_ENST00000564466.1_Silent_p.I258I|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	221						integral to membrane	acyltransferase activity|protein binding|zinc ion binding	p.I258I(1)|p.I221I(1)		large_intestine(6)|lung(4)	10						GGCACAGGAAGATCAACAGGA	0.458000													3	60					0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042716	2042716	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2042716G>A	ENST00000562045.1	+	2	1168	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	SYNGR3_ENST00000248121.2_Silent_p.T139T			O43761	SNG3_HUMAN	synaptogyrin 3	0	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		p.T139T(1)		endometrium(1)|lung(2)	3						GGCCGGCCACGACGCAGGCGG	0.716000													8	5					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95076672	95076672	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:95076672C>A	ENST00000545558.1	-	7	2727	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S	NOL8_ENST00000358855.4_Silent_p.S677S|NOL8_ENST00000542053.1_Silent_p.S677S|NOL8_ENST00000535387.1_Silent_p.S745S|NOL8_ENST00000442668.2_Silent_p.S745S			Q76FK4	NOL8_HUMAN	nucleolar protein 8	745					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.S747S(1)|p.S745S(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACATCTGACGAATTACTAA	0.438000													9	19					3.09899e-07	3.52434e-07	1	1	0
UMOD	7369	broad.mit.edu	37	16	20352544	20352544	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:20352544C>T	ENST00000396134.2	-	8	1668	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	UMOD_ENST00000396142.2_Silent_p.E482E|UMOD_ENST00000570689.1_Silent_p.E482E|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Silent_p.E515E|UMOD_ENST00000302509.4_Silent_p.E482E|UMOD_ENST00000396138.4_Silent_p.E531E	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	482	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.E482E(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGAAAAGCCTCAGTGGACA	0.607000													8	36					0	0	1	0	0
CNIH2	254263	broad.mit.edu	37	11	66049783	66049783	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:66049783G>C	ENST00000528852.1	+	2	402	c.135G>C	c.(133-135)ggG>ggC	p.G45G	CNIH2_ENST00000311445.6_Silent_p.G45G|CNIH2_ENST00000530519.1_3'UTR			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	45					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	p.G45G(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCGACCAGGGGAACCCTGCGC	0.617000													6	46					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491552	71491552	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:71491552G>T	ENST00000296755.7	+	5	2668	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	790	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity	p.K790N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGAAGGCAAGGCCGCAGAGG	0.532000													24	12					2.21704e-12	2.92985e-12	1	1	0
KY	339855	broad.mit.edu	37	3	134329079	134329079	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:134329079C>T	ENST00000508956.1	-	8	851	c.794G>A	c.(793-795)gGc>gAc	p.G265D	KY_ENST00000423778.2_Missense_Mutation_p.G286D|KY_ENST00000503669.1_Missense_Mutation_p.G286D			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	286						cytoskeleton|Z disc	peptidase activity	p.G286D(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGGCCGCTGCCCCAGGTGCT	0.582000													17	37					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172425554	172425554	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:172425554G>T	ENST00000367727.4	+	4	396		c.e4-1		C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105									p.?(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTTCCCCTCAGGCCAGGAGGA	0.507000													54	78					1.95512e-22	2.93268e-22	1	1	0
KSR1	8844	broad.mit.edu	37	17	25932628	25932628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:25932628G>T	ENST00000398988.3	+	16	1883	c.1438G>T	c.(1438-1440)Gag>Tag	p.E480*	KSR1_ENST00000319524.6_Nonsense_Mutation_p.E617*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.E480*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.E595*	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	615					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E617*(1)|p.E595*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAGCTGGGCGAGCCCATCGG	0.711000													4	7					1.024e-07	1.18521e-07	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20443738	20443738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:20443738C>A	ENST00000305051.5	+	1	136	c.61C>A	c.(61-63)Ctt>Att	p.L21I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L21I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATTAAGTCCCTTCCAAAATC	0.388000													19	60					6.94344e-10	8.5483e-10	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777090	25777090	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:25777090A>T	ENST00000377905.4	+	10	1290	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C	SLC17A4_ENST00000439485.2_Missense_Mutation_p.S161C|SLC17A4_ENST00000397076.2_Missense_Mutation_p.S189C	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	391					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.S391C(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCAGATCCAGCCACAGCAT	0.532000													7	81					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991507	70991507	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:70991507G>C	ENST00000256389.3	-	2	362	c.118C>G	c.(118-120)Cta>Gta	p.L40V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.L40V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CATCTGTCTAGAGCAGAAGAG	0.537000													39	56					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059508	158059508	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158059508G>T	ENST00000368172.1	+	6	626	c.613_splice	c.e6-1	p.G205_splice	KIRREL_ENST00000360089.4_Splice_Site_p.G227_splice|KIRREL_ENST00000368173.3_Splice_Site_p.G407_splice|KIRREL_ENST00000359209.6_Splice_Site_p.G391_splice|KIRREL_ENST00000392272.2_Splice_Site_p.G288_splice|KIRREL_ENST00000416935.2_Splice_Site_p.G291_splice			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	391	Ig-like C2-type 2.					integral to membrane		p.G227V(2)|p.G407V(2)|p.G391V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTGCTTGCAGGGCCCCCCATC	0.582000													50	63					7.77372e-23	1.1762e-22	1	1	0
PALD1	27143	broad.mit.edu	37	10	72300942	72300942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:72300942C>T	ENST00000263563.6	+	16	2261	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.Q665*(1)									CCTCAGCGGCCAGGGCCGTAC	0.607000													31	41					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													7	110					0.00307968	0.00319601	1	1	0
SOX5	6660	broad.mit.edu	37	12	23999001	23999001	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:23999001C>T	ENST00000546136.1	-	2	360	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SOX5_ENST00000541847.1_Missense_Mutation_p.E123K|SOX5_ENST00000451604.2_Missense_Mutation_p.E133K|SOX5_ENST00000537393.1_Missense_Mutation_p.E98K|SOX5_ENST00000309359.1_Missense_Mutation_p.E120K|SOX5_ENST00000541536.1_Missense_Mutation_p.E120K|SOX5_ENST00000381381.2_Missense_Mutation_p.E120K|SOX5_ENST00000441133.2_Missense_Mutation_p.E98K|SOX5_ENST00000545921.1_Missense_Mutation_p.E123K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	133					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E133K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGCGCCGTTCAGGAGTTCCC	0.517000													24	71					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815340	109815340	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:109815340C>A	ENST00000271332.3	+	30	8194	c.8133C>A	c.(8131-8133)gaC>gaA	p.D2711E	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2711					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.D2711E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGGTCAAGACCAGCAGCATG	0.622000													12	37					6.40141e-05	6.93265e-05	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77325355	77325355	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:77325355C>G	ENST00000282849.5	-	21	3628	c.3210G>C	c.(3208-3210)ttG>ttC	p.L1070F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1070	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1070F(1)		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						TCCTCACACCCAAACCACAGG	0.473000													40	104					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	11					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106152064	106152064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:106152064C>A	ENST00000369704.3	+	10	1573	c.1439C>A	c.(1438-1440)tCa>tAa	p.S480*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	480								p.S480*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATAGCTGAATCAGAGATTAAA	0.338000													12	68					0.11911	0.120262	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding	p.R2024W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGCTGTGCGGCCCCCACC	0.672000													6	146					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309968	50309968	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:50309968G>C	ENST00000354293.5	+	23	2987	c.2821G>C	c.(2821-2823)Gag>Cag	p.E941Q	AP2A1_ENST00000359032.5_Missense_Mutation_p.E963Q	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	963				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	p.E963Q(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CACCAGCAAGGAGCCCGTCTC	0.667000													4	45					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207931	121207931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:121207931C>A	ENST00000264233.5	-	16	3975	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1283					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.E1418*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAAATTCTCATGCTGGCCT	0.348000								DNA polymerases (catalytic subunits)					39	90					5.04308e-16	6.96425e-16	1	1	0
MKX	283078	broad.mit.edu	37	10	28023610	28023610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:28023610C>G	ENST00000375790.5	-	5	1045	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	MKX_ENST00000419761.1_Missense_Mutation_p.E205Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	205					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E205Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCCCGTGACTCTGGCCTCACT	0.502000													43	47					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19213771	19213771	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:19213771C>A	ENST00000263200.10	-	12	1990	c.1918G>T	c.(1918-1920)Gtg>Ttg	p.V640L	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V640L|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V640L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	640	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.V640L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTGTGGACCACAGCCCTCTTG	0.547000			T	?	ALCL								6	10					1	1	1	1	0
CASR	846	broad.mit.edu	37	3	122003967	122003967	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:122003967G>A	ENST00000498619.1	+	7	3634	c.3196G>A	c.(3196-3198)Gtg>Atg	p.V1066M	CASR_ENST00000490131.1_Missense_Mutation_p.V1056M|CASR_ENST00000296154.5_Missense_Mutation_p.V1056M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1056					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.V1056M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCACTTGTAGTGTCCAGTTC	0.522000													26	57					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37089041	37089041	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:37089041T>G	ENST00000231790.2	+	16	1979	c.1763T>G	c.(1762-1764)cTt>cGt	p.L588R	MLH1_ENST00000458205.2_Missense_Mutation_p.L347R|MLH1_ENST00000435176.1_Missense_Mutation_p.L490R|MLH1_ENST00000536378.1_Missense_Mutation_p.L347R|MLH1_ENST00000539477.1_Missense_Mutation_p.L347R|MLH1_ENST00000455445.2_Missense_Mutation_p.L347R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	588	Interaction with EXO1.		L -> P (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L588R(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTTGCCATGCTTGCCTTAGAT	0.478000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				36	61					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113848528	113848528	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:113848528C>T	ENST00000504030.2	+	2	548	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	HTR3A_ENST00000375498.2_Silent_p.L41L|HTR3A_ENST00000506841.2_Silent_p.L35L|HTR3A_ENST00000355556.2_Silent_p.L41L|HTR3A_ENST00000299961.5_Silent_p.L20L|HTR3A_ENST00000535865.1_5'UTR			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	35					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L35L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCGCTCTGCTGAGGCTGTC	0.572000													5	36					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61461023	61461023	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:61461023C>A	ENST00000343916.3	+	21	1100	c.1097C>A	c.(1096-1098)cCa>cAa	p.P366Q		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	366	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.P366K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCTGGAGAGCCAGGCGTCCCT	0.662000													5	3					3.59834e-05	3.92136e-05	1	1	0
ATP7A	538	broad.mit.edu	37	X	77301004	77301004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:77301004G>A	ENST00000341514.6	+	22	4316	c.4161G>A	c.(4159-4161)tgG>tgA	p.W1387*	ATP7A_ENST00000350425.4_Nonsense_Mutation_p.W390*|ATP7A_ENST00000343533.5_Nonsense_Mutation_p.W1309*	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1387					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.W1387*(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGCAGCCCTGGATGGGATCTG	0.358000													54	42					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231697	6231697	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:6231697C>T	ENST00000316375.2	+	2	740	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	230	Pro-rich.							p.L230L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCCAACCTCAGCATCATGC	0.607000													18	59					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6531112	6531112	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:6531112C>A	ENST00000377748.1	-	14	2058	c.1561G>T	c.(1561-1563)Ggc>Tgc	p.G521C	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.G444C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.G500C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.G481C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.G444C|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.G521C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.G444C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.G513C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.G444C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.G523C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.G444C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.G444C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	500	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.G521C(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCATGCAGCCCTCCTCCTCC	0.697000													3	4					0.150653	0.151524	1	1	0
RXFP3	51289	broad.mit.edu	37	5	33937116	33937116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:33937116G>T	ENST00000330120.3	+	1	626	c.271G>T	c.(271-273)Gtg>Ttg	p.V91L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	91						integral to plasma membrane	N-formyl peptide receptor activity	p.V91L(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTACTGGGTGGTGTGCGCCCT	0.662000													57	30					8.52529e-16	1.1742e-15	1	1	0
DACT1	51339	broad.mit.edu	37	14	59108331	59108331	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:59108331G>T	ENST00000395153.3	+	3	647	c.500G>T	c.(499-501)gGg>gTg	p.G167V	DACT1_ENST00000395151.3_Intron|DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.G167V|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_5'UTR	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	167					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.G167V(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGAGTGATGGGGCTTCAGGA	0.423000													25	101					4.22769e-11	5.39574e-11	1	1	0
CPS1	1373	broad.mit.edu	37	2	211512694	211512694	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:211512694C>A	ENST00000233072.5	+	26	3445	c.3249C>A	c.(3247-3249)atC>atA	p.I1083I	CPS1_ENST00000451903.2_Silent_p.I632I|CPS1_ENST00000430249.2_Silent_p.I1089I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1083					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.I1083I(1)|p.I1089I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCTGCAGATCGACAGGGCTG	0.502000													42	58					1.44828e-35	2.29788e-35	1	1	0
ADAM19	8728	broad.mit.edu	37	5	156915450	156915450	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:156915450G>T	ENST00000257527.4	-	21	2451	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	ADAM19_ENST00000394020.1_Silent_p.P793P|ADAM19_ENST00000517905.1_Silent_p.P791P|ADAM19_ENST00000430702.2_Silent_p.P524P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P791P(1)|p.P792P(1)		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)			GAGGGGGCCGGGGAGGAGGCT	0.617000													20	25					8.10497e-08	9.40177e-08	1	1	0
THOC6	79228	broad.mit.edu	37	16	3076108	3076108	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:3076108C>G	ENST00000326266.8	+	4	561	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V	THOC6_ENST00000575576.1_Missense_Mutation_p.L65V|THOC6_ENST00000253952.9_Missense_Mutation_p.L89V|THOC6_ENST00000574549.1_Missense_Mutation_p.L65V	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	89					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	p.L89V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGATCGACATCTGCTTAGTGC	0.562000													4	96					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984041	2984041	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2984041C>G	ENST00000396946.4	-	5	892	c.489G>C	c.(487-489)aaG>aaC	p.K163N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	163					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.K156N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCATCTGCTTCTTCTCATCCT	0.577000			Mis		DLBCL								9	117					0	0	1	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508190	65508190	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:65508190G>T	ENST00000355045.2	-	2	221	c.193C>A	c.(193-195)Cca>Aca	p.P65T		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.P65T(1)									CGCCCTACTGGACACTGGGAG	0.532000													43	149					1.48734e-19	2.12128e-19	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80427497	80427497	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:80427497C>A	ENST00000265361.3	-	11	1603	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	SEMA3C_ENST00000536800.1_Missense_Mutation_p.V200L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V348L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V366L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	348	Sema.				immune response|response to drug	membrane	receptor activity	p.V348L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTAAACACAGTCTGTATA	0.383000													18	35					2.37509e-13	3.20361e-13	1	1	0
TLR8	51311	broad.mit.edu	37	X	12939284	12939284	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:12939284G>T	ENST00000218032.6	+	2	2212	c.2125G>T	c.(2125-2127)Gac>Tac	p.D709Y	TLR8_ENST00000311912.5_Missense_Mutation_p.D727Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	709					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.D727N(1)|p.D727Y(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGCCTATCTGACTTTACATC	0.433000													27	15					6.32553e-13	8.44483e-13	1	1	0
DIXDC1	85458	broad.mit.edu	37	11	111864406	111864406	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:111864406G>T	ENST00000440460.2	+	15	1673	c.1376G>T	c.(1375-1377)cGa>cTa	p.R459L	DIXDC1_ENST00000315253.5_Missense_Mutation_p.R248L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	460					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	p.R459L(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATCTAGAGCGAGAGCTAGAA	0.463000													13	24					1.3612e-06	1.53135e-06	1	1	0
TLL1	7092	broad.mit.edu	37	4	167021921	167021921	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:167021921G>T	ENST00000061240.2	+	21	3582	c.2935G>T	c.(2935-2937)Gat>Tat	p.D979Y	TLL1_ENST00000507499.1_Missense_Mutation_p.D1002Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	979	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D979Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCAATTGGAGATTCAGTTTT	0.333000													23	68					2.98393e-07	3.40834e-07	1	1	0
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:48390446C>A	ENST00000224600.4	-	1	545	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	144	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L144L(1)		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)	CCATCATGCTCAGCACCTCCT	0.642000													9	69					0.000442599	0.000469587	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782751	115782751	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:115782751C>T	ENST00000343348.6	-	19	3438	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	SEMA6A_ENST00000503865.1_Missense_Mutation_p.R263Q|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R361Q|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R901Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R311Q|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R884Q	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	884					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.R884Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGAGGCCTCCCGCTGTGGAAC	0.582000													54	47					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79590564	79590564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:79590564C>T	ENST00000372391.2	-	10	1821	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	DLG5_ENST00000372388.2_Missense_Mutation_p.D606N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	606					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.D606N(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGCCGAGTCGTGGGAGCTG	0.562000													10	37					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627313	158627313	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158627313G>A	ENST00000368148.3	-	19	2939	c.2759C>T	c.(2758-2760)cCt>cTt	p.P920L	SPTA1_ENST00000368147.3_Missense_Mutation_p.P920L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	920					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.P920L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTACAATAGGTTCCTTCTC	0.458000													27	159					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753481	76753481	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:76753481T>G	ENST00000536229.3	+	1	1800	c.1091T>G	c.(1090-1092)aTc>aGc	p.I364S	SALL3_ENST00000537592.2_Missense_Mutation_p.I497S|SALL3_ENST00000575389.2_Missense_Mutation_p.I497S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I497S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCTCGGGCATCCCCTACGGC	0.652000													13	8					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255941	15255941	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:15255941T>A	ENST00000378116.4	-	8	1652	c.1646A>T	c.(1645-1647)gAg>gTg	p.E549V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	549						integral to membrane		p.E549V(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTAGGTCTCTCGAGGTGATC	0.547000													25	81					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73814377	73814377	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:73814377C>G	ENST00000334126.7	-	14	2605	c.2379G>C	c.(2377-2379)caG>caC	p.Q793H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q793H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	793						centrosome		p.Q793H(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCATTTGTCTGATTGACTA	0.463000													21	65					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608963	4608963	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:4608963A>T	ENST00000312614.4	+	1	943	c.921A>T	c.(919-921)ctA>ctT	p.L307L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L307L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTCCTGCTAGCTGACCTGT	0.512000													31	80					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579618	55579618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55579618C>A	ENST00000333973.2	+	1	765	c.676C>A	c.(676-678)Ctg>Atg	p.L226M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L226M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCACCATCCTGAAGATGGG	0.502000													14	49					1.05317e-09	1.28748e-09	1	1	0
SEC14L1	6397	broad.mit.edu	37	17	75196674	75196674	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:75196674G>C	ENST00000413679.2	+	9	1231	c.928G>C	c.(928-930)Gta>Cta	p.V310L	SEC14L1_ENST00000430767.4_Missense_Mutation_p.V310L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V310L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V276L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V310L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V310L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V276L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V310L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	310					transport	Golgi apparatus|integral to membrane	binding	p.V310L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCAGCATCAGGTAGACTACAT	0.483000													50	60					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468369	56468369	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:56468369G>T	ENST00000312153.1	+	1	506	c.506G>T	c.(505-507)cGt>cTt	p.R169L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.R169L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AACTTCTGCCGTGAAAACATC	0.428000													9	63					1.12685e-05	1.24359e-05	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235377133	235377133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235377133C>A	ENST00000264183.3	-	17	2289	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E598*|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.E598*(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCCACCTTCGACATCAGAA	0.388000													48	88					6.27289e-28	9.77447e-28	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20432712	20432712	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:20432712G>T	ENST00000331849.4	+	5	903	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	252					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.V252V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGTTTTGTGGCCAGCGGAA	0.592000													11	11					1.08611e-07	1.24878e-07	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148979215	148979215	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:148979215C>T	ENST00000434415.1	+	6	1585	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	474					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A474A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCGGCAAGGCCTTCCGCCGGC	0.706000													11	38					0	0	1	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214060	23214060	+	RNA	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:23214060G>T	ENST00000390318.2	+	0	249																											TAAGAGTGATGGCAGCCACAG	0.562000													22	108					1.22574e-08	1.46081e-08	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	27					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14135350	14135350	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:14135350G>T	ENST00000379153.3	+	5	672	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	167					defense response|humoral immune response|signal transduction	integral to plasma membrane		p.R167R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AGTTTGCACGGCTACAGAGTA	0.398000													12	110					9.31168e-06	1.02981e-05	1	1	0
KIRREL2	84063	broad.mit.edu	37	19	36350469	36350469	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:36350469C>T	ENST00000360202.5	+	5	807	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KIRREL2_ENST00000347900.6_Silent_p.V153V|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Intron|KIRREL2_ENST00000262625.7_Silent_p.V203V|KIRREL2_ENST00000592409.1_Silent_p.V203V	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	203	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.V203V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCTTTGTCTGCCGGGCCC	0.617000													16	61					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108205358	108205358	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:108205358G>C	ENST00000273353.3	-	11	1003	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	316	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S316C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGGATTTGCAGATACCAGGAG	0.438000													3	29					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307056	2307056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:2307056G>T	ENST00000290974.2	-	8	1350	c.1011C>A	c.(1009-1011)taC>taA	p.Y337*	ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.Y307*|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.Y267*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	337					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.Y337*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTGGTCGTCGTACTGCATGG	0.662000													22	27					5.35356e-11	6.78291e-11	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142565423	142565423	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:142565423C>G	ENST00000392957.2	+	12	2595	c.1808C>G	c.(1807-1809)gCt>gGt	p.A603G	EPHB6_ENST00000411471.2_Missense_Mutation_p.A326G|EPHB6_ENST00000442129.1_Missense_Mutation_p.A603G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	603			A -> P (in a colorectal cancer sample; somatic mutation).			extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A588G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ATCCTGGGGGCTTTGGCCTTC	0.642000													17	10					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61014693	61014693	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:61014693T>C	ENST00000238714.3	+	15	1583	c.1334T>C	c.(1333-1335)gTa>gCa	p.V445A		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	445					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.V445A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTCGGAGAGTAGAAAATGCA	0.303000													7	28					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54792025	54792025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:54792025G>T	ENST00000297313.3	+	2	465	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	125					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.G125C(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGAGCTGCCGGGCCGCCTCTC	0.786000													13	7					1.99824e-07	2.29248e-07	1	1	0
OR4S1	256148	broad.mit.edu	37	11	48328531	48328531	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:48328531A>G	ENST00000319988.1	+	1	757	c.757A>G	c.(757-759)Atg>Gtg	p.M253V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M253V(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGCCCCCCATGTTCATGTA	0.488000													26	69					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30873253	30873253	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30873253C>A	ENST00000383096.3	-	12	1228	c.1046G>T	c.(1045-1047)aGt>aTt	p.S349I	CCDC178_ENST00000402325.1_Missense_Mutation_p.S349I|CCDC178_ENST00000300227.8_Missense_Mutation_p.S349I|CCDC178_ENST00000583930.1_Missense_Mutation_p.S349I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.S349I|CCDC178_ENST00000403303.1_Missense_Mutation_p.S349I|CCDC178_ENST00000579947.1_Missense_Mutation_p.S349I					coiled-coil domain containing 178									p.S349I(2)									ATCAAATAGACTGTTAAGTTG	0.299000													14	23					4.14922e-12	5.44194e-12	1	1	0
AACS	65985	broad.mit.edu	37	12	125618592	125618592	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:125618592C>T	ENST00000545511.1	+	5	5319	c.332C>T	c.(331-333)cCg>cTg	p.P111L	AACS_ENST00000316543.10_Silent_p.T129T|AACS_ENST00000316519.6_Silent_p.T531T|AACS_ENST00000261686.6_Silent_p.T531T|AACS_ENST00000543665.1_Missense_Mutation_p.P31L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.T531T(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCCCAAGACCGGGGGCATCG	0.622000													13	8					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	493250	493250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:493250G>C	ENST00000399788.2	-	3	675	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L105V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	105	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L105V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGGATCTTCAGAGTAGATCCT	0.383000			T	NUP98	AML								33	87					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98105779	98105779	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:98105779C>A	ENST00000419479.1	-	7	822	c.315G>T	c.(313-315)gtG>gtT	p.V105V	OPALIN_ENST00000393871.1_Silent_p.V92V|OPALIN_ENST00000393870.2_Silent_p.V104V|OPALIN_ENST00000371172.3_Silent_p.V115V|OPALIN_ENST00000536387.1_Silent_p.V105V	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	115						Golgi apparatus|integral to membrane|plasma membrane		p.V105V(1)|p.V115V(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						AACGGTCATGCACAGGTTCCT	0.498000													32	110					2.68265e-12	3.53622e-12	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34180307	34180307	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:34180307C>T	ENST00000373381.4	-	21	3462	c.3286G>A	c.(3286-3288)Ggc>Agc	p.G1096S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1056	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.G1056S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGCCCACGCCAAACTGCAAG	0.657000													23	70					0	0	1	0	0
LASP1	3927	broad.mit.edu	37	17	37071325	37071325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:37071325G>T	ENST00000318008.6	+	6	869	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	LASP1_ENST00000435347.3_Missense_Mutation_p.A180S|LASP1_ENST00000433206.2_Missense_Mutation_p.A124S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	180						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	p.A180S(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GCAGCCGGTGGCCCAGTCCTA	0.647000			T	MLL	AML								18	94					6.44725e-10	7.99398e-10	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904960	55904960	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55904960G>T	ENST00000301529.1	-	1	234	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTTTAGGGGCAATGACA	0.418000													25	50					3.08376e-08	3.63369e-08	1	1	0
SGCD	6444	broad.mit.edu	37	5	156186318	156186318	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:156186318T>A	ENST00000435422.3	+	8	1274	c.787T>A	c.(787-789)Tgc>Agc	p.C263S	SGCD_ENST00000337851.4_Missense_Mutation_p.C264S	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	263					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.C264S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCGAGATCTGCGTCTGCGC	0.493000													41	25					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115113	66115113	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:66115113G>A	ENST00000503581.1	-	6	1547	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	EYS_ENST00000342421.5_Missense_Mutation_p.S337L|EYS_ENST00000370618.3_Missense_Mutation_p.S337L|EYS_ENST00000393380.2_Missense_Mutation_p.S337L|EYS_ENST00000370616.2_Missense_Mutation_p.S337L|EYS_ENST00000370621.3_Missense_Mutation_p.S337L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	337	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S337L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGTACTAATGAAAACTCACT	0.338000													24	68					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247106	164247106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:164247106G>A	ENST00000296533.2	-	2	1132	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	201					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.Q201*(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATGGAAATTGATCAAAGCAC	0.398000													10	15					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310251	10310251	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:10310251G>A	ENST00000403437.2	-	18	2105	c.2011C>T	c.(2011-2013)Cac>Tac	p.H671Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	671	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.H671Y(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTACGAAGTGAGGGTGTGTG	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	44					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917794	145917794	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:145917794C>A	ENST00000354952.2	-	6	670	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.D144Y|PLSCR4_ENST00000493382.1_Missense_Mutation_p.D144Y	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	144					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	p.D144Y(2)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTTTTAATATCATATCTATTA	0.353000													5	23					1.23904e-05	1.36451e-05	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134084251	134084251	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:134084251C>T	ENST00000264360.4	+	4	3743	c.2917C>T	c.(2917-2919)Ctg>Ttg	p.L973L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	973					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L973L(1)		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)		TCGCAGCAATCTGCATGTTCC	0.532000													27	55					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209225	70209225	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:70209225G>A	ENST00000269503.4	-	3	944	c.171C>T	c.(169-171)ccC>ccT	p.P57P	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P57P|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	57						integral to membrane		p.P57P(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CCAGCACGATGGGCTCCGTGT	0.731000													5	13					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333758	220333758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:220333758C>A	ENST00000312358.7	+	12	3611	c.3479C>A	c.(3478-3480)gCc>gAc	p.A1160D	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1160					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A1160D(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGACAGCCGCCTCAGGCCCC	0.692000													15	32					1.5739e-10	1.9702e-10	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621162	8621162	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:8621162C>T	ENST00000429646.2	+	9	3394	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	CPZ_ENST00000315782.6_Missense_Mutation_p.H582Y|CPZ_ENST00000360986.4_Missense_Mutation_p.H593Y|CPZ_ENST00000382480.2_Missense_Mutation_p.H456Y			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	593					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.H593Y(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACTTTATTCATGGGCTGCG	0.637000													11	42					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282032	152282032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:152282032G>T	ENST00000368799.1	-	3	5365	c.5330C>A	c.(5329-5331)tCc>tAc	p.S1777Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1777Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGGGCGGACTCAGACTG	0.607000									Ichthyosis				130	263					1.60004e-37	2.5542e-37	1	1	0
GRAMD4	23151	broad.mit.edu	37	22	47069627	47069627	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:47069627G>A	ENST00000406902.1	+	15	1513	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	GRAMD4_ENST00000361034.3_Missense_Mutation_p.E434K			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	434					apoptosis	integral to membrane|mitochondrial membrane		p.E434K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGGTAAAGAGGAGGACGCCGG	0.627000													16	70					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863778	55863778	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:55863778T>A	ENST00000388975.3	-	10	1243	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	376					cell cycle|cell division	septin complex	GTP binding|protein binding	p.D165V(1)|p.D376V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGAACTTGTCCTGCAGCTG	0.378000													12	11					0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723778	103723778	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:103723778T>G	ENST00000453744.2	-	5	651	c.138A>C	c.(136-138)caA>caC	p.Q46H	UBE2D3_ENST00000504211.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000357194.6_Missense_Mutation_p.Q48H|UBE2D3_ENST00000394801.4_Missense_Mutation_p.Q46H|UBE2D3_ENST00000349311.8_Missense_Mutation_p.Q46H|UBE2D3_ENST00000350435.7_Missense_Mutation_p.Q40H|UBE2D3_ENST00000507845.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000505207.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000343106.5_Missense_Mutation_p.Q46H|UBE2D3_ENST00000321805.7_Missense_Mutation_p.Q46H|UBE2D3_ENST00000394803.5_Missense_Mutation_p.Q46H|UBE2D3_ENST00000394804.2_Missense_Mutation_p.Q46H|UBE2D3_ENST00000502404.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000338145.3_Missense_Mutation_p.Q46H	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	46					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	p.Q48H(1)|p.Q46H(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		ATACACCGCCTTGATATGGGC	0.323000													33	34					0	0	1	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986171	31986171	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:31986171C>A	ENST00000329122.2	-	1	78	c.53G>T	c.(52-54)tGt>tTt	p.C18F		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	18						cytosol|intermediate filament		p.C18F(1)		breast(2)|endometrium(1)|lung(7)	10						TCCATAGCCACAGAACCCATA	0.577000													32	95					1.06801e-11	1.39028e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090220	9090220	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:9090220T>A	ENST00000397910.4	-	1	1798	c.1595A>T	c.(1594-1596)cAg>cTg	p.Q532L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	532	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q532L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGTGTGCTGGGGTTCACT	0.542000													19	9					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067113	66067113	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:66067113G>T	ENST00000349533.6	+	9	1218	c.1033G>T	c.(1033-1035)Ggg>Tgg	p.G345W	LEPR_ENST00000344610.8_Missense_Mutation_p.G345W|LEPR_ENST00000371059.3_Missense_Mutation_p.G345W|LEPR_ENST00000371058.1_Missense_Mutation_p.G345W|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.G345W|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	345	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.G345W(3)		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)		GACAAGTGTTGGGTCTAATGT	0.343000													28	43					2.4375e-19	3.45754e-19	1	1	0
TWISTNB	221830	broad.mit.edu	37	7	19738102	19738102	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:19738102T>C	ENST00000222567.5	-	4	924	c.854A>G	c.(853-855)cAg>cGg	p.Q285R		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	285	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.Q285R(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGAACTTCCTGGTGCTTTTT	0.433000													142	318					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48839832	48839832	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:48839832C>A	ENST00000314191.2	-	21	2397	c.2341G>T	c.(2341-2343)Gac>Tac	p.D781Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.D781Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	781					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.D781Y(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATGTCTGTCAATATAAATT	0.418000								Non-homologous end-joining					3	33					0.115264	0.116604	1	1	0
CDH18	1016	broad.mit.edu	37	5	19483608	19483608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:19483608C>A	ENST00000507958.1	-	14	2674	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y	CDH18_ENST00000382275.1_Missense_Mutation_p.D562Y|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Missense_Mutation_p.D562Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	562	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D562Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAATACACATCCTGAACAGTT	0.468000													12	51					1.61879e-10	2.02155e-10	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522857	23522857	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:23522857G>T	ENST00000296682.3	+	8	927	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	249	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G249W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCTGAGAATTGGGCCATCAGG	0.587000										HNSCC(3;0.000094)			47	32					1.86633e-21	2.75205e-21	1	1	0
CACTIN	58509	broad.mit.edu	37	19	3611929	3611929	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:3611929G>A	ENST00000429344.2	-	10	2321	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	CACTIN_ENST00000248420.5_Missense_Mutation_p.R757W|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.R689W	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.R689W(1)|p.R757W(1)									CGTCACCGCCGATAGCGGTAG	0.647000													6	13					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833307	11833307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:11833307G>A	ENST00000341191.6	-	4	1195	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R166*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R348*(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCATGATTTCGAACTGAACTA	0.418000										HNSCC(68;0.2)			29	67					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279093	2279093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2279093C>T	ENST00000440306.2	-	2	293	c.258G>A	c.(256-258)tgG>tgA	p.W86*	FTSJ2_ENST00000242257.8_Nonsense_Mutation_p.W86*|FTSJ2_ENST00000486040.1_5'UTR			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	86	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	p.W86*(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCACCTGACTCCAGGCCCCAG	0.657000													10	17					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361215	107361215	+	Silent	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:107361215T>G	ENST00000374779.2	-	1	573	c.480A>C	c.(478-480)acA>acC	p.T160T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T160T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCACAAACACTGTTTGTACTG	0.453000													21	62					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565468	142565468	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:142565468T>G	ENST00000392957.2	+	12	2640	c.1853T>G	c.(1852-1854)gTc>gGc	p.V618G	EPHB6_ENST00000411471.2_Missense_Mutation_p.V341G|EPHB6_ENST00000442129.1_Missense_Mutation_p.V618G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	618						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V603G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGCGGTCGTCTTCCAGCGG	0.612000													11	13					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118549	34118549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:34118549C>A	ENST00000297161.2	+	13	1533	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	BMPER_ENST00000426693.1_Missense_Mutation_p.Q387K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	387	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.Q387K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGGACGTGTCAGTACGTTTT	0.572000													56	88					2.5401e-28	3.96985e-28	1	1	0
SLC16A9	220963	broad.mit.edu	37	10	61424037	61424037	+	Silent	SNP	C	C	A	rs2306162		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:61424037C>A	ENST00000395348.3	-	4	1020	c.384G>T	c.(382-384)acG>acT	p.T128T	SLC16A9_ENST00000395347.1_Silent_p.T128T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	128					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.T128T(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATACTGGCACGTAATGGTCA	0.403000													12	49					0.000151284	0.000162826	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114326822	114326822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:114326822G>T	ENST00000297405.5	-	2	623	c.379C>A	c.(379-381)Cat>Aat	p.H127N	CSMD3_ENST00000352409.3_Missense_Mutation_p.H127N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H127N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H87N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	127	CUB 1.					integral to membrane|plasma membrane		p.H87N(1)|p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTAGGATGAGGATGTCCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	75					0.000274275	0.000292187	1	1	0
ZNF622	90441	broad.mit.edu	37	5	16465718	16465718	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:16465718C>A	ENST00000308683.2	-	1	183	c.57G>T	c.(55-57)caG>caT	p.Q19H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	19						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.Q19H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGTGGGCCCGCTGCATGTCCG	0.637000													55	44					1.93748e-29	3.04628e-29	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025572	16025572	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:16025572C>A	ENST00000326742.7	-	9	1250	c.1249_splice	c.e9+1	p.G417_splice	CYP4F11_ENST00000402119.3_Splice_Site_p.G417_splice|CYP4F11_ENST00000248041.7_Splice_Site_p.G417_splice			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	417					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.G417C(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAGCACCTTTGGGGATG	0.632000													50	15					2.74695e-27	4.26759e-27	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92353592	92353592	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:92353592G>A	ENST00000267620.10	-	8	976	c.807C>T	c.(805-807)ttC>ttT	p.F269F	FBLN5_ENST00000342058.4_Silent_p.F228F|FBLN5_ENST00000556154.1_Silent_p.F233F			Q9UBX5	FBLN5_HUMAN	fibulin 5	228	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.F228F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCGGCAGATGAAAGAGCCGT	0.537000													5	95					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77455253	77455253	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:77455253A>T	ENST00000299543.7	+	2	490	c.343A>T	c.(343-345)Agc>Tgc	p.S115C	CTDP1_ENST00000075430.7_Missense_Mutation_p.S115C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	115					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.S115C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGAAGGATGCAGCCACCCGGT	0.498000													14	15					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969806	235969806	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235969806C>A	ENST00000389794.3	-	6	2804	c.2630G>T	c.(2629-2631)gGc>gTc	p.G877V	LYST_ENST00000536965.1_Missense_Mutation_p.G877V|LYST_ENST00000389793.2_Missense_Mutation_p.G877V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	877					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.G877V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTTGAGGCCAGCATAAAA	0.393000													48	110					2.81731e-22	4.20181e-22	1	1	0
LPP	4026	broad.mit.edu	37	3	188426208	188426208	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:188426208G>A	ENST00000448637.1	+	7	1413	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	LPP_ENST00000312675.4_Intron|LPP_ENST00000471917.1_Intron|LPP_ENST00000543006.1_Intron			Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	0	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCTGACTTCTGAAGTAACTAT	0.423000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								14	31					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462309	224462309	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:224462309C>T	ENST00000305409.2	-	2	1924	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	564			P -> L (in dbSNP:rs36043001).		angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P564P(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTTGCTCACCGGGGCCAGCT	0.498000													34	52					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908930	151908930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:151908930C>T	ENST00000370291.2	+	4	449	c.169C>T	c.(169-171)Cga>Tga	p.R57*	CSAG1_ENST00000452779.2_Splice_Site|CSAG1_ENST00000370287.3_Splice_Site			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	63								p.?(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAAGAGGCGAGGAAGGGG	0.552000													30	67					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754747	94754747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:94754747G>T	ENST00000554723.1	-	3	1406	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	SERPINA10_ENST00000393096.1_Missense_Mutation_p.L290M|SERPINA10_ENST00000554173.1_Missense_Mutation_p.L290M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L290M			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	290					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L290M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGTAGGGCAGTTTGAGGACA	0.512000													24	35					1.1804e-14	1.60879e-14	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30260371	30260371	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30260371C>A	ENST00000359358.4	-	6	1868		c.e6+1			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane		p.?(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAATTACTTGCCTGAAATGTA	0.438000													71	66					1.65906e-26	2.56982e-26	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37356600	37356600	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:37356600C>T	ENST00000373091.3	-	2	229	c.213G>A	c.(211-213)agG>agA	p.R71R	GRIK3_ENST00000373093.4_Silent_p.R71R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	71					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R71R(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGCAGAGTCCTGTTCCTGT	0.532000													30	107					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473173	22473173	+	RNA	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:22473173G>T	ENST00000557788.2	-	0	97																											GGTCTCCGAAGGCTTCACCAG	0.647000													10	71					7.03913e-09	8.46641e-09	1	1	0
CDH19	28513	broad.mit.edu	37	18	64178894	64178894	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:64178894C>T	ENST00000262150.2	-	10	1779	c.1487G>A	c.(1486-1488)aGa>aAa	p.R496K	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	496	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R496K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGATTCATCTCTATCCACTGC	0.318000													16	61					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471324	44471324	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44471324G>T	ENST00000251269.5	+	6	1998	c.1670G>T	c.(1669-1671)gGg>gTg	p.G557V	ZNF221_ENST00000592350.1_Missense_Mutation_p.G557V|ZNF221_ENST00000587682.1_Missense_Mutation_p.G557V	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	557			G -> R (in dbSNP:rs366111).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G557V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGGGTCCACGGGGGAGAGCGA	0.453000													14	23					5.43694e-19	7.69128e-19	1	1	0
PALD1	27143	broad.mit.edu	37	10	72292514	72292514	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:72292514C>A	ENST00000263563.6	+	6	1039	c.771C>A	c.(769-771)ccC>ccA	p.P257P		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.P257P(1)									ACAAGCGGCCCCTCTTCCTGC	0.622000													34	39					1.26612e-14	1.72113e-14	1	1	0
WNK2	65268	broad.mit.edu	37	9	96061494	96061494	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:96061494G>T	ENST00000297954.4	+	25	6177	c.6177G>T	c.(6175-6177)tcG>tcT	p.S2059S	WNK2_ENST00000395477.2_Silent_p.S2022S|WNK2_ENST00000349097.3_Silent_p.S1671S|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000427277.2_Silent_p.S1634S|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2059					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.S2059S(1)|p.S2007S(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGTCTTCGGACATCTGCT	0.657000													8	23					0.000673444	0.000707319	1	1	0
C8A	731	broad.mit.edu	37	1	57351623	57351623	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:57351623C>T	ENST00000361249.3	+	7	975	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	293	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.F293F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAAGAATCTTCACAAAGGTGC	0.368000													5	51					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098972	15098972	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:15098972G>T	ENST00000523376.1	+	9	1660	c.398G>T	c.(397-399)cGc>cTc	p.R133L	CALCB_ENST00000533448.1_Missense_Mutation_p.R122L|CALCB_ENST00000324229.6_Missense_Mutation_p.R122L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	122					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	p.R122L(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCAGGCGCCGCAGGGACCTT	0.542000													7	17					0.00448238	0.00462412	1	1	0
CHAC2	494143	broad.mit.edu	37	2	53999058	53999058	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:53999058G>A	ENST00000295304.4	+	2	245	c.150G>A	c.(148-150)gtG>gtA	p.V50V	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	50								p.V50V(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAAGAGTTGTGACTCTTGTTG	0.269000													18	129					0	0	1	0	0
KDELR2	11014	broad.mit.edu	37	7	6502740	6502740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:6502740G>A	ENST00000490996.1	-	4	417	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000258739.4_3'UTR|KDELR2_ENST00000463747.1_Intron	NM_001100603.1	NP_001094073.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	0					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	p.Q140*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CGAGCACCCTGAAGGACAGAT	0.413000													18	101					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563277	51563277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:51563277G>T	ENST00000595793.1	-	3	355	c.313C>A	c.(313-315)Cac>Aac	p.H105N	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.H105N	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	105	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.H105N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGATAGAGTGGACAACTTCC	0.587000													42	24					2.77807e-22	4.15516e-22	1	1	0
PELP1	27043	broad.mit.edu	37	17	4576080	4576080	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:4576080C>T	ENST00000301396.4	-	16	2863	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	PELP1_ENST00000574876.1_Missense_Mutation_p.E736K|PELP1_ENST00000572293.1_Missense_Mutation_p.E786K|PELP1_ENST00000269230.7_Missense_Mutation_p.E646K|PELP1_ENST00000436683.2_Missense_Mutation_p.E589K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	736					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	p.E786K(1)|p.E880K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ATGGGGTCCTCATTTGAGCCT	0.597000													5	9					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47648438	47648438	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:47648438C>G	ENST00000397728.3	-	2	168	c.90G>C	c.(88-90)gaG>gaC	p.E30D	LSS_ENST00000356396.4_Missense_Mutation_p.E30D|LSS_ENST00000457828.2_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.E30D|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	30					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.E30D(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCGGCCCCTCTCGCAGTTGA	0.716000													6	38					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231382	2231382	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2231382C>A	ENST00000343516.6	-	18	2079	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	663					signal transduction	cytoplasm		p.A663S(1)|p.A492S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTCATGGCAGCCTGCAGCTCG	0.697000													10	11					0.000978159	0.00102324	1	1	0
HECW1	23072	broad.mit.edu	37	7	43484721	43484721	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:43484721G>T	ENST00000395891.1	+	11	2555	c.1950G>T	c.(1948-1950)acG>acT	p.T650T	HECW1_ENST00000453890.1_Silent_p.T650T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	650					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T629T(1)|p.T650T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGGCGACACGCACCCCAGCA	0.716000													13	23					0.000308642	0.000328129	1	1	0
PCNX	22990	broad.mit.edu	37	14	71518646	71518646	+	Silent	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:71518646T>C	ENST00000304743.2	+	24	4940	c.4494T>C	c.(4492-4494)tcT>tcC	p.S1498S	PCNX_ENST00000238570.5_Silent_p.S1498S|PCNX_ENST00000439984.3_Silent_p.S1387S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1498						integral to membrane		p.S1498S(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCTTCTTCTCTACTCCACTGA	0.433000													71	85					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626163	44626163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:44626163C>T	ENST00000576629.1	+	10	4153	c.3658C>T	c.(3658-3660)Cag>Tag	p.Q1220*	LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.Q1220*|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1220						integral to membrane		p.Q1220*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCCCCACACACAGCAGGGGCC	0.582000													19	133					0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038045	22038045	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:22038045G>A	ENST00000303532.1	-	1	830	c.831C>T	c.(829-831)ccC>ccT	p.P277P		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P277P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGATGGCCGTGGGGACTAGGG	0.567000													24	57					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780180	9780180	+	Silent	SNP	C	C	T	rs149764166		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:9780180C>T	ENST00000536656.1	+	11	1453	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	PIK3CD_ENST00000377346.4_Silent_p.G450G|PIK3CD_ENST00000361110.2_Silent_p.G415G|PIK3CD_ENST00000543390.1_Silent_p.G117G			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	450					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G450G(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ATGAGAAGGGCGAGCTGCTGA	0.652000													20	39					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732519	30732519	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:30732519C>T	ENST00000262518.4	+	21	3648	c.3263C>T	c.(3262-3264)tCc>tTc	p.S1088F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S1088F|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1088	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.S1088F(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGTTGCCATCCCCCCTGGGG	0.592000													23	47					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219870197	219870197	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219870197C>T	ENST00000341552.5	-	32	5093	c.5010G>A	c.(5008-5010)caG>caA	p.Q1670Q	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.Q1670Q|CCDC108_ENST00000441968.1_Silent_p.Q1670Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1670						integral to membrane	structural molecule activity	p.Q1670Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTTCTTCTGCTTGGAAA	0.552000													23	74					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16942702	16942702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:16942702G>A	ENST00000377833.4	-	53	8397	c.8332C>T	c.(8332-8334)Cag>Tag	p.Q2778*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2778	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q2778*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGACCAGCTGATTGGAACCT	0.443000													13	62					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52188726	52188726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:52188726G>T	ENST00000395718.2	+	12	1681	c.1396G>T	c.(1396-1398)Gaa>Taa	p.E466*	FRMD6_ENST00000554167.1_Nonsense_Mutation_p.E397*|FRMD6_ENST00000356218.4_Nonsense_Mutation_p.E466*|FRMD6_ENST00000553556.1_Nonsense_Mutation_p.E116*|FRMD6_ENST00000344768.5_Nonsense_Mutation_p.E474*	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	474						cytoskeleton|mitochondrion|plasma membrane	binding	p.E466*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAGTCTCTGGAAGTCAGCCC	0.468000													13	39					1.49906e-05	1.64393e-05	1	1	0
BCAN	63827	broad.mit.edu	37	1	156622224	156622224	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:156622224T>A	ENST00000329117.4	+	8	1818	c.1482T>A	c.(1480-1482)tcT>tcA	p.S494S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S494S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	494					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.S494S(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGGCCTCTCTCCCCACTG	0.622000													9	11					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			7	76					1.06961e-07	1.23526e-07	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65349172	65349172	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:65349172C>A	ENST00000330909.8	-	22	3546	c.3547G>T	c.(3547-3549)Gac>Tac	p.D1183Y	MAGI1_ENST00000483466.1_Missense_Mutation_p.D1184Y|MAGI1_ENST00000402939.2_Missense_Mutation_p.D1155Y|MAGI1_ENST00000497477.2_Missense_Mutation_p.D1088Y	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1184	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.D1184Y(1)|p.D1155Y(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCAGGACCGTCCTCTGCTAAG	0.502000													116	167					4.94481e-55	8.01612e-55	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219614060	219614060	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219614060G>T	ENST00000392102.1	+	14	3025	c.2685G>T	c.(2683-2685)atG>atT	p.M895I	TTLL4_ENST00000457313.1_Missense_Mutation_p.M730I|TTLL4_ENST00000442769.1_Missense_Mutation_p.M831I|TTLL4_ENST00000258398.4_Missense_Mutation_p.M895I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	895	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.M895I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTGACATCATGCTAGACGAAA	0.493000													36	40					6.53348e-20	9.36944e-20	1	1	0
CUBN	8029	broad.mit.edu	37	10	16949593	16949593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:16949593C>T	ENST00000377833.4	-	49	7684	c.7619G>A	c.(7618-7620)gGa>gAa	p.G2540E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2540	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G2540E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATTGTGTTTCCTGAAGATTT	0.413000													9	33					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607486	84607486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:84607486G>T	ENST00000344803.2	+	4	2148	c.2101G>T	c.(2101-2103)Ggc>Tgc	p.G701C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G701C(2)									GCGCAGATGGGGCCTGCCCCG	0.478000													6	26					0.000157383	0.000169041	1	1	0
IRX1	79192	broad.mit.edu	37	5	3600222	3600222	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:3600222A>G	ENST00000302006.3	+	2	1212	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	387						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N387S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCCCTGCTCAACATGCGCTCC	0.672000													12	63					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507000													28	84					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36788633	36788633	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:36788633C>A	ENST00000399881.3	+	25	2938	c.2901C>A	c.(2899-2901)tcC>tcA	p.S967S	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	967						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S967S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGCTTCTGTCCTTACACGAAA	0.433000													22	157					6.44725e-10	7.99398e-10	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112622620	112622620	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:112622620C>T	ENST00000550722.1	-	61	10107	c.9712G>A	c.(9712-9714)Gat>Aat	p.D3238N	HECTD4_ENST00000430131.2_Missense_Mutation_p.D2962N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3212N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.D2962N(1)|p.D3212N(1)									TGGCAGGCATCGGCGATGGCG	0.682000													44	45					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459433	100459433	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:100459433G>T	ENST00000354161.3	+	12	1736	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	SLC12A9_ENST00000540482.1_Silent_p.L537L|SLC12A9_ENST00000275729.3_Silent_p.L448L|SLC12A9_ENST00000428758.1_Silent_p.L537L|SLC12A9_ENST00000415287.1_Silent_p.L448L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	537						integral to membrane|plasma membrane	cation:chloride symporter activity	p.L537L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTGCTCCTGGTGGGGAACC	0.657000													8	68					0.000274275	0.000292187	1	1	0
USP15	9958	broad.mit.edu	37	12	62783402	62783402	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:62783402A>T	ENST00000280377.5	+	13	1633	c.1575A>T	c.(1573-1575)atA>atT	p.I525I	USP15_ENST00000353364.3_Silent_p.I496I|USP15_ENST00000393654.3_Silent_p.I500I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	525					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I496I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTACTGATATATACAATCATA	0.313000													42	54					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676463	11676463	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:11676463T>A	ENST00000423059.3	-	2	567	c.316A>T	c.(316-318)Aat>Tat	p.N106Y	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	106	TSP type-1 1.					integral to membrane		p.N106Y(1)		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)		TGCTGGTTATTGGGTCTCTCG	0.498000										HNSCC(18;0.044)			21	49					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316938	19316938	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:19316938A>T	ENST00000461366.1	+	6	984	c.769A>T	c.(769-771)Agc>Tgc	p.S257C		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	257							GTP binding|GTPase activity|zinc ion binding	p.S257C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCCTGAGCTGAGCAGGGAAAC	0.617000													9	9					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450921	10450921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:10450921C>A	ENST00000245503.5	-	4	603	c.219G>T	c.(217-219)aaG>aaT	p.K73N	MYH2_ENST00000397183.2_Missense_Mutation_p.K73N|MYH2_ENST00000532183.1_Missense_Mutation_p.K73N|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	73	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K73N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTGATCATCCTTCACTGTCA	0.433000													51	35					2.31418e-15	3.17061e-15	1	1	0
RDH10	157506	broad.mit.edu	37	8	74231418	74231418	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:74231418G>T	ENST00000240285.5	+	3	1291	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.A40S|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	205					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.A205S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GTTCAGTACTGCCGGAGTTGA	0.433000													29	165					1.13719e-10	1.43039e-10	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121712118	121712118	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:121712118T>G	ENST00000324774.5	-	2	1040	c.212A>C	c.(211-213)gAc>gCc	p.D71A	CAMKK2_ENST00000402834.4_Missense_Mutation_p.D71A|CAMKK2_ENST00000404169.3_Missense_Mutation_p.D71A|CAMKK2_ENST00000412367.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000347034.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000446440.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000538733.1_Missense_Mutation_p.D71A|CAMKK2_ENST00000392474.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000337174.3_Missense_Mutation_p.D71A	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	71					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.D71A(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGGGCCGGTCCCGCGCCAA	0.682000													22	7					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11415466	11415466	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:11415466T>A	ENST00000423059.3	-	28	5180	c.4929A>T	c.(4927-4929)cgA>cgT	p.R1643R	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1643						integral to membrane		p.R1643R(1)		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)		AAGGTTTCAGTCGGTTGTTTT	0.373000										HNSCC(18;0.044)			40	65					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209219	67209219	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:67209219C>T	ENST00000393893.1	-	5	542	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	CORO1B_ENST00000341356.5_Missense_Mutation_p.V147M|CORO1B_ENST00000545016.1_Missense_Mutation_p.V147M|CORO1B_ENST00000453768.2_Missense_Mutation_p.V147M	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	147					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	p.V147M(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTGAGCAGCACGTTTCGGGCC	0.672000													4	24					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32526612	32526612	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:32526612G>T	ENST00000286827.3	-	18	3595	c.3124C>A	c.(3124-3126)Cgc>Agc	p.R1042S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R982S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R1042C(2)|p.R1042S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCACCTTGCGCAGCTTATCT	0.567000													34	48					7.11191e-15	9.71837e-15	1	1	0
BHMT	635	broad.mit.edu	37	5	78416224	78416224	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:78416224G>A	ENST00000274353.5	+	4	444	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	113	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.E113K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AGTGGCTGATGAAGGAGATGC	0.428000													7	18					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022455	12022455	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:12022455G>C	ENST00000396373.4	+	5	835	c.561G>C	c.(559-561)acG>acC	p.T187T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	187						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T187T(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CACCTATCACGACAAATCACC	0.617000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								58	171					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561102	44561102	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:44561102G>T	ENST00000332567.4	-	1	886	c.534C>A	c.(532-534)ctC>ctA	p.L178L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	178					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.L178L(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						CGGGCATCCGGAGGGGAGCTG	0.692000													26	42					1.61788e-16	2.25209e-16	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123336679	123336679	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:123336679G>A	ENST00000296513.2	+	11	1580	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	ADAD1_ENST00000388725.2_Missense_Mutation_p.M447I|ADAD1_ENST00000388724.2_Missense_Mutation_p.M454I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	465	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.M465I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTTCAAATGAACTTGGAAT	0.388000													31	121					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419891	149419891	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:149419891A>C	ENST00000255992.10	+	7	1015	c.616A>C	c.(616-618)Agc>Cgc	p.S206R	KRBA1_ENST00000485033.2_Missense_Mutation_p.S206R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.S206R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	206								p.S206R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTGGGAACAGCCCCTTGCA	0.622000													16	80					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757846	62757846	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:62757846T>A	ENST00000281156.4	-	3	551	c.273A>T	c.(271-273)ctA>ctT	p.L91L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	91	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L91L(2)		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)		TTTCTTCCTGTAGCCTCTTCA	0.368000													10	71					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106720	160106720	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:160106720C>T	ENST00000361216.3	+	20	2828	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.F913F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	913					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F913F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTGGAGTTCACGTGCCACA	0.577000													38	194					0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133291502	133291502	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:133291502G>C	ENST00000498926.2	+	2	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PGAM5_ENST00000543955.1_5'UTR|PXMP2_ENST00000545677.1_Missense_Mutation_p.R123T|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.E84Q	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	84						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	p.E84Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		TGGGGAAGAAGAGCTGGCGTC	0.537000													7	42					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048280	2048280	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2048280C>G	ENST00000563630.1	-	12	2745	c.2503G>C	c.(2503-2505)Gac>Cac	p.D835H	ZNF598_ENST00000562103.1_Missense_Mutation_p.D835H|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.D890H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890						intracellular	zinc ion binding	p.D890H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTCGTCGTCCCGGGCAGCA	0.687000													38	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			15	17					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985525	60985525	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:60985525G>A	ENST00000398117.1	-	1	1836	c.375C>T	c.(373-375)acC>acT	p.T125T	BCL2_ENST00000589955.1_Silent_p.T125T|BCL2_ENST00000333681.4_Silent_p.T125T|BCL2_ENST00000444484.1_Silent_p.T125T	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	125					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.T125T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTCCCCGCGCGGTGAAGGGCG	0.667000			T	IGH@	"""NHL, CLL"""								9	51					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643016	105643016	+	Missense_Mutation	SNP	C	C	A	rs141847132		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:105643016C>A	ENST00000392568.2	-	4	376	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	95	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.G95C(1)|p.G95S(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCGCTGAGCCGGGCAGGGCT	0.677000										HNSCC(42;0.11)			14	48					7.93312e-07	8.94404e-07	1	1	0
RREB1	6239	broad.mit.edu	37	6	7211137	7211137	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:7211137C>G	ENST00000379938.2	+	7	1063	c.526C>G	c.(526-528)Cac>Gac	p.H176D	RREB1_ENST00000379933.3_Missense_Mutation_p.H176D|RREB1_ENST00000334984.6_Missense_Mutation_p.H176D|RREB1_ENST00000349384.6_Missense_Mutation_p.H176D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	176					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.H176D(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACTGAGTCACGATGCCGA	0.522000													14	112					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140531513G>A	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V559M(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721000													28	32					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815103	31815103	+	Splice_Site	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:31815103T>A	ENST00000419022.1	-	12	1427		c.e12-2		PAX6_ENST00000379132.3_Splice_Site|PAX6_ENST00000379115.4_Splice_Site|PAX6_ENST00000379129.2_Splice_Site|PAX6_ENST00000379107.2_Splice_Site|PAX6_ENST00000379111.2_Splice_Site|PAX6_ENST00000241001.8_Splice_Site|PAX6_ENST00000379123.5_Splice_Site	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6						blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.?(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AGGAGGAAACTGAGGGCAAGA	0.498000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				7	36					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33455797	33455797	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:33455797G>T	ENST00000265112.3	+	6	992	c.681G>T	c.(679-681)ctG>ctT	p.L227L	TARS_ENST00000455217.2_Silent_p.L260L|TARS_ENST00000414361.2_Silent_p.L106L|TARS_ENST00000541634.1_Silent_p.L123L|TARS_ENST00000502553.1_Silent_p.L227L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	227					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.L227L(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAACTTTACTGGCAATGTTTA	0.368000													74	54					1.58458e-29	2.49895e-29	1	1	0
ARFGAP1	55738	broad.mit.edu	37	20	61907553	61907553	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:61907553G>T	ENST00000370275.4	+	3	262		c.e3+1		ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000519273.2_Splice_Site|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000370283.4_Splice_Site|ARFGAP1_ENST00000353546.3_Splice_Site			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TTCACCTCAGGTCAGTGTCCT	0.647000													36	37					1.66425e-11	2.15568e-11	1	1	0
CARD11	84433	broad.mit.edu	37	7	2949749	2949749	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2949749G>C	ENST00000396946.4	-	24	3598	c.3195C>G	c.(3193-3195)atC>atG	p.I1065M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1065	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.I1058M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTTGGACTTGATCAAGTCTC	0.602000			Mis		DLBCL								46	67					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484419	60484419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:60484419C>A	ENST00000450662.2	+	10	940	c.869C>A	c.(868-870)tCa>tAa	p.S290*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.S238*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	238							calcium ion binding	p.S238*(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGCCCATATTCAAAAATACCC	0.368000													17	82					1.33834e-09	1.63227e-09	1	1	0
SNTB1	6641	broad.mit.edu	37	8	121706015	121706015	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:121706015G>A	ENST00000395601.3	-	3	1119	c.705C>T	c.(703-705)ttC>ttT	p.F235F	SNTB1_ENST00000517992.1_Silent_p.F235F|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	235	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.F235F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTGGAAGGAGAAGGACTGCG	0.562000													6	69					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731608	124731608	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:124731608G>T	ENST00000311127.4	-	6	2882	c.2815C>A	c.(2815-2817)Cca>Aca	p.P939T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	939						extracellular region|integral to membrane	calcium ion binding	p.P939T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTGAAGCTGGGCTGTACTCT	0.502000													13	18					0.00010058	0.000108477	1	1	0
CEP170B	283638	broad.mit.edu	37	14	105350346	105350346	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:105350346C>T	ENST00000453495.1	+	9	1461	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	CEP170B_ENST00000418279.1_Silent_p.D340D|CEP170B_ENST00000414716.3_Silent_p.D410D|CEP170B_ENST00000556508.1_Silent_p.D340D					centrosomal protein 170B									p.D410D(1)|p.D341D(1)									AGTTCTTCGACGAGGACACAC	0.657000													3	2					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489094	5489094	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:5489094C>A	ENST00000341928.2	-	2	429	c.89G>T	c.(88-90)gGg>gTg	p.G30V	EPB41L3_ENST00000544123.1_Missense_Mutation_p.G30V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G30V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G30V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G30V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	30					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G30V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAcgggcgcccccgcgcgccc	0.721000													17	17					5.01169e-05	5.43889e-05	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31314323	31314323	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31314323G>C	ENST00000269197.5	+	10	1026	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K342_E343>N*(1)|p.K49_E50>N*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATTGAGAAGGAAAAGAAAA	0.328000													8	16					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46849193	46849193	+	Splice_Site	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:46849193G>A	ENST00000283296.7	-	8	1101	c.814_splice	c.e8+1	p.I271_splice	GPR116_ENST00000456426.2_Splice_Site_p.I271_splice|GPR116_ENST00000265417.7_Splice_Site_p.I271_splice|GPR116_ENST00000362015.4_Splice_Site_p.I271_splice	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	271	Ig-like 1.|SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I271I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCACTTACTGATAGTAACTG	0.368000													14	71					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112720857	112720857	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:112720857C>T	ENST00000408903.3	-	2	638	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCATGATCTCAGCCACAGAC	0.433000													5	64					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110424697	110424697	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:110424697C>A	ENST00000392589.1	-	9	1613	c.777G>T	c.(775-777)caG>caT	p.Q259H	WASF1_ENST00000392587.2_Missense_Mutation_p.Q259H|WASF1_ENST00000392588.1_Missense_Mutation_p.Q259H|WASF1_ENST00000392586.1_Missense_Mutation_p.Q259H|WASF1_ENST00000359451.2_Missense_Mutation_p.Q259H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	259					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	p.Q259H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCTCACTCATCTGACTAAATG	0.428000													31	15					1.56442e-22	2.35339e-22	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:110477365G>A	ENST00000378402.5	+	49	8408	c.8304G>A	c.(8302-8304)ggG>ggA	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			47	28					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121756792	121756792	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:121756792C>T	ENST00000393376.1	-	7	884	c.789G>A	c.(787-789)acG>acA	p.T263T	AASS_ENST00000417368.2_Silent_p.T263T|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	263	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.T263T(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GACTTAACACCGTCCCATACA	0.353000													4	95					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96485250	96485250	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:96485250C>G	ENST00000376747.3	-	38	4529	c.4459G>C	c.(4459-4461)Gaa>Caa	p.E1487Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1487	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.E1487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCACCCATTCTGGGACAATT	0.353000													12	50					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080278	70080278	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:70080278C>G	ENST00000446444.1	-	1	171	c.163G>C	c.(163-165)Gta>Cta	p.V55L	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	55					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V55L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GATGCCAGTACAGTCACCTCA	0.403000													32	77					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55872708C>T	ENST00000313503.1	+	1	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.423000										HNSCC(53;0.14)			36	141					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975550	94975550	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:94975550C>A	ENST00000261226.4	-	2	974	c.843G>T	c.(841-843)ctG>ctT	p.L281L	TMCC3_ENST00000551457.1_Silent_p.L250L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	281						integral to membrane		p.L281L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTGGCTGTCCAGTGTGCTGG	0.577000													24	23					3.28513e-13	4.40832e-13	1	1	0
ZAN	7455	broad.mit.edu	37	7	100334234	100334234	+	RNA	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:100334234G>A	ENST00000542585.1	+	0	383				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.G79R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGGCCCCCGGGGGGTACCC	0.657000													43	58					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87964599	87964599	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:87964599G>A	ENST00000369577.3	+	8	1295	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	ZNF292_ENST00000339907.4_Missense_Mutation_p.D413N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D418N(1)|p.D273N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAGAAATATGATGAAGAGAA	0.378000													7	18					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538048	39538048	+	Splice_Site	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:39538048C>T	ENST00000394001.1	-	2	505		c.e2-1			NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34						epidermis development	intermediate filament	protein binding|structural molecule activity	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CACACAGAATCTGAAAAGAAA	0.483000													19	32					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156556	94156556	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:94156556C>T	ENST00000553484.1	+	47	7516	c.7362C>T	c.(7360-7362)gcC>gcT	p.A2454A	UNC79_ENST00000555664.1_Silent_p.A2393A|UNC79_ENST00000256339.4_Silent_p.A2255A|UNC79_ENST00000393151.2_Silent_p.A2432A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2432						integral to membrane		p.A2255A(1)|p.A2454A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCCAAATGCCTCCTCTCCCT	0.498000													21	53					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515622	51515622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:51515622C>A	ENST00000328188.1	+	1	341	c.341C>A	c.(340-342)aCt>aAt	p.T114N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T114N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATCCTACTTACTGTGATGGCC	0.478000													31	67					9.78306e-22	1.45078e-21	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19436748	19436748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:19436748G>T	ENST00000328405.2	+	7	1388	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C	KCNH8_ENST00000537696.1_Missense_Mutation_p.W15C|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	374						integral to membrane	two-component sensor activity	p.W374C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGTGTATCTGGTACGTCATTG	0.433000													20	40					8.10497e-08	9.40177e-08	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38950598	38950598	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:38950598C>G	ENST00000302328.3	-	9	1387	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	SCN11A_ENST00000444237.2_Missense_Mutation_p.A397P|SCN11A_ENST00000456224.3_Missense_Mutation_p.A397P|SCN11A_ENST00000450244.1_Missense_Mutation_p.A397P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	397					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A397P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTAACAACAGCCAGGGTTAAG	0.473000													37	77					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1027006	1027006	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:1027006C>T	ENST00000340150.6	+	7	836	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	CYP2W1_ENST00000308919.7_Missense_Mutation_p.R328C			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	328					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R328C(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGAGCTAGACCGCGTGCTGGG	0.721000													7	6					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723384	50723384	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:50723384C>T	ENST00000515869.1	-	6	3301	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	PGBD3_ENST00000374127.3_Missense_Mutation_p.E593K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E1061K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E1061K|PGBD3_ENST00000508005.2_Missense_Mutation_p.E593K|ERCC6_ENST00000355832.5_Intron	NM_001277059.1	NP_001263988.1												p.E593K(1)									ACCTGCTATTCAGTGTGATAT	0.393000													16	56					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688970	23688970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:23688970C>A	ENST00000314011.4	-	4	1041	c.905G>T	c.(904-906)gGg>gTg	p.G302V	ZNF436_ENST00000374608.3_Missense_Mutation_p.G302V|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G302V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGGCCTCTCCCCTGTGTGGAC	0.522000													50	43					3.4597e-24	5.2806e-24	1	1	0
PRKD1	5587	broad.mit.edu	37	14	30095757	30095757	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:30095757G>A	ENST00000331968.5	-	12	1960	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	PRKD1_ENST00000415220.2_Silent_p.I585I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	577					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.I577I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATACTGTGCTGATGTCCTAGA	0.303000													13	39					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680272	43680272	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:43680272G>T	ENST00000404580.1	-	3	547	c.459C>A	c.(457-459)atC>atA	p.I153I	PSG5_ENST00000407356.1_Silent_p.I153I|PSG5_ENST00000366175.3_Silent_p.I153I|PSG5_ENST00000599812.1_Silent_p.I246I|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.I153I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	153	Ig-like C2-type 1.				female pregnancy	extracellular region		p.I153I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTGAGTTGTTGATGGTGATGT	0.473000													138	65					6.47883e-55	1.04704e-54	1	1	0
FBXO41	150726	broad.mit.edu	37	2	73492453	73492453	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:73492453G>T	ENST00000521871.1	-	5	1936	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	FBXO41_ENST00000520530.2_Silent_p.P507P|FBXO41_ENST00000295133.5_Silent_p.P568P			Q8TF61	FBX41_HUMAN	F-box protein 41	507	F-box.					intracellular	protein binding|zinc ion binding	p.P507P(1)|p.P131P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TAGCAGGCCCGGGGCGGGGCG	0.672000													10	16					3.86212e-05	4.20006e-05	1	1	0
RAD54B	25788	broad.mit.edu	37	8	95390564	95390564	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:95390564C>A	ENST00000336148.5	-	14	2483	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.G787C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCACAAAGACCTTGCTTACTG	0.328000								Direct reversal of damage;Homologous recombination					12	11					2.32078e-09	2.82389e-09	1	1	0
CHD4	1108	broad.mit.edu	37	12	6707449	6707449	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:6707449T>G	ENST00000309577.6	-	11	1788	c.1625A>C	c.(1624-1626)cAg>cCg	p.Q542P	CHD4_ENST00000544484.1_Missense_Mutation_p.Q539P|CHD4_ENST00000357008.2_Missense_Mutation_p.Q542P|CHD4_ENST00000544040.1_Missense_Mutation_p.Q535P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	542	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.Q542P(2)		central_nervous_system(2)	2						CACAAAGAACTGCCGCTCTGG	0.572000													52	91					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526436	105526436	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:105526436G>T	ENST00000345080.4	+	4	734	c.531G>T	c.(529-531)caG>caT	p.Q177H		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	177					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.Q177H(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGAGTTCTCAGGGAAGACAGG	0.537000													14	13					2.23348e-06	2.49653e-06	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62046380	62046380	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:62046380G>T	ENST00000354587.3	-	11	1493	c.1317C>A	c.(1315-1317)ccC>ccA	p.P439P	KCNQ2_ENST00000359125.2_Silent_p.P467P|KCNQ2_ENST00000370222.3_Silent_p.P439P|KCNQ2_ENST00000359689.1_Silent_p.P467P|KCNQ2_ENST00000344462.3_Silent_p.P427P|KCNQ2_ENST00000370226.1_Silent_p.P437P|KCNQ2_ENST00000370224.1_Silent_p.P439P|KCNQ2_ENST00000357249.2_Silent_p.P449P|KCNQ2_ENST00000430658.1_Silent_p.P437P|KCNQ2_ENST00000360480.3_Silent_p.P439P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	467					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P467P(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGTCGGCGCTGGGTGACCGCC	0.672000													41	23					1.30091e-30	2.0578e-30	1	1	0
SGOL1	151648	broad.mit.edu	37	3	20225228	20225228	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:20225228C>T	ENST00000412997.1	-	3	562	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SGOL1_ENST00000412868.1_Missense_Mutation_p.E71K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Missense_Mutation_p.E71K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E71K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E71K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Missense_Mutation_p.E71K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E71K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E71K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E71K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E71K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E71K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E71K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E71K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E71K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	71	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	p.E71K(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTGGATTTTTCATTTTCCAAA	0.318000													8	48					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133945149	133945149	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:133945149G>C	ENST00000361069.4	+	17	3114	c.2981G>C	c.(2980-2982)tGt>tCt	p.C994S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	994	Laminin EGF-like 11.				cell adhesion	basement membrane|membrane	structural molecule activity	p.C994S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTACAAATGTGACCGCTGC	0.652000													3	5					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57221506	57221506	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:57221506T>A	ENST00000205214.6	-	6	1125	c.945A>T	c.(943-945)ttA>ttT	p.L315F	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.L315F|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.L315F|AASDH_ENST00000602986.1_Missense_Mutation_p.L162F|AASDH_ENST00000513376.1_Missense_Mutation_p.L215F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	315					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.L315F(1)		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)				CACCAAGGGCTAATACTCGAA	0.393000													18	54					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040882	117040882	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:117040882C>A	ENST00000355044.3	+	14	2244	c.2118C>A	c.(2116-2118)acC>acA	p.T706T		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	706	PSI 2.					integral to membrane	sugar binding	p.T706T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGAACTACACCAAATGTCATG	0.348000													10	37					3.07112e-06	3.41817e-06	1	1	0
ADCY8	114	broad.mit.edu	37	8	132051897	132051897	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:132051897G>A	ENST00000286355.5	-	1	2775	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A228V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	228					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A228V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACCACCAGGGCGCAGATCAC	0.632000										HNSCC(32;0.087)			8	46					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188245253	188245253	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:188245253T>A	ENST00000409998.1	-	8	1130	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S117C|CALCRL_ENST00000410068.1_Missense_Mutation_p.S117C|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	117						integral to plasma membrane		p.S117C(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTTCTGTTGCTTGCTGGATGT	0.323000													117	114					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89862832	89862832	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:89862832G>C	ENST00000275072.4	+	3	780	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	229							hydrolase activity	p.D229H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AAATGCATTAGATGCTGCTGT	0.363000													36	17					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66325509	66325509	+	RNA	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:66325509C>A	ENST00000513398.1	+	0	1237				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACATCGCCAACGCCTGGCGGG	0.612000													11	10					5.50884e-06	6.10534e-06	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241421603	241421603	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:241421603C>A	ENST00000391987.1	-	16	2981	c.2615G>T	c.(2614-2616)gGg>gTg	p.G872V	ANKMY1_ENST00000373320.4_Missense_Mutation_p.G642V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G774V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G651V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.G872V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G961V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G633V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G648V			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	872							zinc ion binding	p.G872V(1)|p.G648V(1)		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)		CACTTACTGCCCCTGCTCCTT	0.617000													36	65					1.30015e-28	2.03807e-28	1	1	0
SPATA31A1	647060	broad.mit.edu	37	9	39361081	39361081	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:39361081A>T	ENST00000377647.3	+	4	3348	c.3319A>T	c.(3319-3321)Att>Ttt	p.I1107F		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1									p.I1107F(1)									GTTTCCCCCTATTCACAAGAG	0.478000													102	131					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322326	55322326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55322326C>G	ENST00000314644.2	+	1	544	c.544C>G	c.(544-546)Ccc>Gcc	p.P182A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATTTGCAAGCCCTTGCATTA	0.498000										HNSCC(20;0.049)			22	48					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89349840	89349840	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:89349840G>T	ENST00000380265.5	+	15	2119	c.1936G>T	c.(1936-1938)Gtt>Ttt	p.V646F	HERC6_ENST00000264346.7_Missense_Mutation_p.V682F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.V682F(1)|p.L681L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAGTCGCCTGGTTAAAGATGC	0.368000													5	7					0.000602214	0.000635062	1	1	0
XKR7	343702	broad.mit.edu	37	20	30584765	30584765	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:30584765C>T	ENST00000217299.3	+	3	1419	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	415						integral to membrane		p.L415L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCTACTCGCTCATCATGGTCT	0.592000													11	55					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453000													3	20					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374394	27374394	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:27374394G>T	ENST00000395762.2	+	11	1980	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	IL4R_ENST00000543915.2_Missense_Mutation_p.G574V|IL4R_ENST00000170630.2_Missense_Mutation_p.G574V|IL4R_ENST00000380922.3_Missense_Mutation_p.G559V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	574	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.G574V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCACCAGTGGCTATCAGGAG	0.642000													8	27					0.000274275	0.000292187	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102266270	102266270	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:102266270G>T	ENST00000369138.1	+	9	1719	c.1229G>T	c.(1228-1230)gGc>gTc	p.G410V	GRIK2_ENST00000369134.4_Missense_Mutation_p.G361V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G410V|GRIK2_ENST00000421544.1_Missense_Mutation_p.G410V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G410V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G410V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	410					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G410V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCAGCCAGTGGCCTGAATATG	0.398000													7	9					2.80697e-09	3.40754e-09	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121681017	121681017	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:121681017G>C	ENST00000393386.2	+	21	6196	c.5785G>C	c.(5785-5787)Gtt>Ctt	p.V1929L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1062L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1929	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.V1929L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTGGGGCCTGTTGTCGTCCA	0.507000													60	40					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26966223	26966223	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:26966223C>G	ENST00000307301.7	-	7	790	c.749G>C	c.(748-750)aGa>aCa	p.R250T	MRPL39_ENST00000352957.4_Missense_Mutation_p.R250T	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	250						mitochondrial ribosome	nucleotide binding	p.R250T(2)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CTTGACTATTCTCTCAGGGTT	0.333000													7	76					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349638	100349638	+	RNA	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:100349638C>T	ENST00000542585.1	+	0	2058				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATTCCCTCAGAAAAACCC	0.512000													7	39					0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217525440	217525440	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:217525440G>C	ENST00000233809.4	+	2	732	c.603G>C	c.(601-603)caG>caC	p.Q201H	IGFBP2_ENST00000456764.1_Missense_Mutation_p.Q57H	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	201					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	p.Q201H(1)		endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		AGCACCGGCAGATGGGCAAGG	0.647000													4	17					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769592	31769592	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:31769592C>T	ENST00000240587.4	-	2	1434	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	369					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.Q186Q(1)|p.Q369Q(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)					TGGCCCCATTCTGGTGGCCGT	0.562000													10	139					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890038	55890038	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55890038C>T	ENST00000313472.3	+	1	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.433000													13	220					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10402220	10402220	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:10402220G>A	ENST00000221980.4	+	3	471	c.408G>A	c.(406-408)gaG>gaA	p.E136E	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	136	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane		p.E136E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGGTGGGCGAGAACTTCACCC	0.692000													30	101					0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169099285	169099286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:169099285_169099286insG	ENST00000367816.1	+	6	1134_1135	c.605_606insG	c.(604-606)aaafs	p.K202fs	ATP1B1_ENST00000499679.3_Frame_Shift_Ins_p.K146fs|ATP1B1_ENST00000367813.3_Frame_Shift_Ins_p.K194fs|ATP1B1_ENST00000367815.3_Frame_Shift_Ins_p.K202fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	202					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TACCCAGTGATGAAGTATAACC	0.416													43	58	---	---	---	---					
CTNNA2	1496	broad.mit.edu	37	2	80085218	80085218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:80085218delG	ENST00000466387.1	+	8	1102	c.378delG	c.(376-378)gcfs	p.A127fs	CTNNA2_ENST00000496558.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000540488.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000361291.4_Frame_Shift_Del_p.A161fs|CTNNA2_ENST00000541047.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000402739.4_Frame_Shift_Del_p.A127fs			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	127					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGTACGGGCGGCAAGGGCTT	0.552													31	56	---	---	---	---					
ANO7	50636	broad.mit.edu	37	2	242142823	242142824	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:242142823_242142824delGC	ENST00000274979.8	+	9	1064_1065	c.961_962delGC	c.(961-963)gfs	p.A321fs	ANO7_ENST00000402430.3_Frame_Shift_Del_p.A320fs	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	321						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCAGCACTGGGCGCGCTGGGGC	0.683													7	19	---	---	---	---					
NFXL1	152518	broad.mit.edu	37	4	47887580	47887581	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:47887580_47887581insA	ENST00000507489.1	-	14	1934_1935	c.1758_1759insT	c.(1756-1761)ttagaafs	p.LE586fs	NFXL1_ENST00000329043.3_Frame_Shift_Ins_p.LE586fs|NFXL1_ENST00000381538.3_Frame_Shift_Ins_p.LE586fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	586						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCACATTTCTCCAAAACTTTTT	0.406													18	85	---	---	---	---					
THOC3	84321	broad.mit.edu	37	5	175394224	175394234	+	Frame_Shift_Del	DEL	AGCTGGTCCAC	AGCTGGTCCAC	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:175394224_175394234delAGCTGGTCCAC	ENST00000513482.1	-	2	375_385	c.304_314delGTGGACCAGCT	c.(304-315)tfs	p.VDQL102fs	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000265097.4_Frame_Shift_Del_p.VDQL102fs			Q96J01	THOC3_HUMAN	THO complex 3	102					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ATGCCAACAAAGCTGGTCCACACTATCCCCA	0.441													7	12	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													3	5	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148281	27148282	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:27148281_27148282delGC	ENST00000396352.4	-	3	783_784	c.584_585delGC	c.(583-585)cfs	p.R195fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	195					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTAGGCCGTGCGCGCGCGCTT	0.683													36	84	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131831322	131831322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:131831322delG	ENST00000359827.3	-	28	5964	c.5002delC	c.(5002-5004)ggfs	p.R1668fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.R1668fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1668						integral to membrane|intracellular|plasma membrane		p.R1668W(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTCCCCCGGTCCCCCTCC	0.572													231	242	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486054	94486072	+	Frame_Shift_Del	DEL	TGCTCTGGGCCCCATCTTC	TGCTCTGGGCCCCATCTTC	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:94486054_94486072delTGCTCTGGGCCCCATCTTC	ENST00000375708.3	-	9	2902_2920	c.2704_2722delGAAGATGGGGCCCAGAGCA	c.(2704-2724)ccfs	p.EDGAQST902fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	902					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.G904W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCTGCACGGTGCTCTGGGCCCCATCTTCTGGGGCGTTC	0.635													8	93	---	---	---	---					
UNC45B	146862	broad.mit.edu	37	17	33510550	33510550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:33510550delG	ENST00000268876.5	+	19	2581	c.2484delG	c.(2482-2484)ctfs	p.L828fs	UNC45B_ENST00000591048.1_Frame_Shift_Del_p.L747fs|UNC45B_ENST00000378449.1_Frame_Shift_Del_p.L747fs|UNC45B_ENST00000394570.2_Frame_Shift_Del_p.L826fs|UNC45B_ENST00000433649.1_Frame_Shift_Del_p.L826fs	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	828					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGGGGCTCTGGCCATGCTGA	0.587													19	24	---	---	---	---					
ZIK1	284307	broad.mit.edu	37	19	58101828	58101828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:58101828delG	ENST00000597850.1	+	4	864	c.649delG	c.(649-651)ggfs	p.G217fs	ZIK1_ENST00000536878.2_Frame_Shift_Del_p.G204fs|ZIK1_ENST00000599456.1_Frame_Shift_Del_p.G162fs|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGTGAATGTGGGAAGGCTTC	0.478													30	20	---	---	---	---					
EP300-AS1	101927279	broad.mit.edu	37	22	41586192	41586193	+	RNA	DEL	CA	CA	-	rs76554533		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:41586192_41586193delCA	ENST00000420537.1	-	0	223																											TCTTCAAAGGCaaaaaaaaaaa	0.411													3	3	---	---	---	---					
