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
TTC33	23548	broad.mit.edu	37	5	40730380	40730380	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:40730380T>A	ENST00000337702.4	-	3	439	c.287A>T	c.(286-288)tAc>tTc	p.Y96F	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	96							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTCATCTCGTATAGGGTAGC	0.358000													5	86					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54509117	54509117	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:54509117C>A	ENST00000371344.1	-	1	1498	c.79G>T	c.(79-81)Gca>Tca	p.A27S	TMEM59_ENST00000234831.5_Missense_Mutation_p.A158S|TMEM59_ENST00000371348.1_Missense_Mutation_p.A27S|TMEM59_ENST00000371341.1_Missense_Mutation_p.A27S			Q9BXS4	TMM59_HUMAN	transmembrane protein 59	158						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AAGCTCTGTGCGGAGTCCATC	0.393000													9	70					2.17888e-05	2.53785e-05	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1955760	1955760	+	Splice_Site	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:1955760C>T	ENST00000382722.5	-	24	2704	c.2342_splice	c.e24+1	p.R781_splice	CACNA2D4_ENST00000588077.1_Splice_Site_p.R717_splice|CACNA2D4_ENST00000585732.1_Splice_Site_p.R642_splice|CACNA2D4_ENST00000585708.1_Splice_Site_p.R717_splice|CACNA2D4_ENST00000587995.1_Splice_Site_p.R756_splice|CACNA2D4_ENST00000586184.1_Splice_Site_p.R781_splice|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	781						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCAACCCACCTGTCGGAGAC	0.662000													3	14					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8745793	8745793	+	Missense_Mutation	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:8745793A>C	ENST00000378641.3	+	26	3193	c.2718A>C	c.(2716-2718)gaA>gaC	p.E906D	PLCB1_ENST00000338037.6_Missense_Mutation_p.E906D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E906D	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	906					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGAAGTGGAAGCACAGACCA	0.408000													7	28					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883748	150883748	+	Splice_Site	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:150883748T>G	ENST00000422024.1	-	2	577		c.e2-2		ASB10_ENST00000377867.3_Splice_Site|ASB10_ENST00000275838.1_Splice_Site|ASB10_ENST00000420175.2_Splice_Site|ASB10_ENST00000434669.1_Splice_Site	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGAGTCCTAGGGAGGGGA	0.652000													4	20					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21207407	21207407	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:21207407G>T	ENST00000381541.3	+	11	1584	c.1519G>T	c.(1519-1521)Gtg>Ttg	p.V507L	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V507L|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V460L																							CTGTAGCTGTGTGGAAGTAAT	0.328000													4	89					0.150653	0.153173	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212989572	212989572	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:212989572G>C	ENST00000342788.4	-	2	449	c.139C>G	c.(139-141)Cga>Gga	p.R47G	ERBB4_ENST00000402597.1_Missense_Mutation_p.R47G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R47G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	47					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGCAAGGCTCGGTACTGCTGT	0.473000										TSP Lung(8;0.080)			5	49					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111126	7111126	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:7111126G>T	ENST00000306904.5	+	1	962	c.775G>T	c.(775-777)Gac>Tac	p.D259Y		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	259	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTACAGCGACCGAGACGG	0.662000													6	51					0.0293803	0.0303797	1	1	0
ERP29	10961	broad.mit.edu	37	12	112460060	112460060	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:112460060C>T	ENST00000261735.3	+	3	540	c.390C>T	c.(388-390)gtC>gtT	p.V130V	ERP29_ENST00000546477.1_Silent_p.V29V|ERP29_ENST00000455836.1_3'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	130					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AGAACCCAGTCCCATACACTG	0.552000													4	34					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52912943	52912943	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:52912943G>A	ENST00000373980.4	+	2	748	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PRKG1_ENST00000373985.1_Missense_Mutation_p.E84K|PRKG1_ENST00000401604.2_Missense_Mutation_p.E96K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	96					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTTATAAAGGAAGCTATCCT	0.453000													44	103					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72712069	72712069	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:72712069G>A	ENST00000409314.1	-	5	521	c.353C>T	c.(352-354)aCa>aTa	p.T118I	FCHSD2_ENST00000311172.7_Missense_Mutation_p.T62I|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T118I|FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T62I			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	118							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTTCTCACTGTCCTTGCAGG	0.363000													6	20					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98480259	98480259	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:98480259C>G	ENST00000295268.3	-	11	1419	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTCTTTTTCTCCTGGGATATC	0.274000													10	88					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652018	15652018	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:15652018G>A	ENST00000262041.5	-	3	1318	c.909C>T	c.(907-909)caC>caT	p.H303H		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	303					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATATCATAAGTGCGCATGCT	0.483000													29	65					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41829206	41829206	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:41829206C>A	ENST00000304330.4	-	2	234	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	40						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCATCACCACCGCCCCTATTT	0.587000													11	127					7.03913e-09	9.02909e-09	1	1	0
OR6C76	390326	broad.mit.edu	37	12	55820504	55820504	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:55820504C>G	ENST00000328314.3	+	1	467	c.467C>G	c.(466-468)cCa>cGa	p.P156R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTTTTCCACCACTGGCCATG	0.443000													7	124					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321382	1321382	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:1321382C>A	ENST00000381567.3	-	4	372	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.V125L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	125	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAAAATCTCACGTGCTTCGGG	0.542000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								10	147					3.27435e-08	4.07952e-08	1	1	0
ADCY2	108	broad.mit.edu	37	5	7724663	7724663	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:7724663G>C	ENST00000338316.4	+	13	1798	c.1709G>C	c.(1708-1710)tGg>tCg	p.W570S	ADCY2_ENST00000537121.1_Missense_Mutation_p.W390S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	570					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCAGGCAATGGCTCAAGTCT	0.333000													6	72					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975456	44975456	+	Missense_Mutation	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:44975456T>G	ENST00000340446.4	-	1	1026	c.735A>C	c.(733-735)gaA>gaC	p.E245D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	245						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGCAGAACCTTCTTGTACAA	0.413000													10	148					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885651	25885651	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:25885651G>T	ENST00000376351.3	+	10	2437	c.2078G>T	c.(2077-2079)gGa>gTa	p.G693V	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	693						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCCGATCTGGATCCTACCTG	0.438000													4	81					0.00024832	0.000275508	1	1	0
TBC1D2	55357	broad.mit.edu	37	9	101014085	101014085	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:101014085C>T	ENST00000375066.5	-	2	584	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	TBC1D2_ENST00000375064.1_Missense_Mutation_p.V165I|TBC1D2_ENST00000342112.5_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	165	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGCAGGACGGGCCCATTC	0.637000													31	48					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275689	114275689	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:114275689A>T	ENST00000357077.4	+	38	5968	c.5915A>T	c.(5914-5916)cAa>cTa	p.Q1972L	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q1939L|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1939					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAGAAAAGCAACCACCTGTA	0.498000													6	139					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845479	44845479	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:44845479G>T	ENST00000372262.3	-	4	1224	c.824C>A	c.(823-825)cCc>cAc	p.P275H	CDH22_ENST00000537909.1_Missense_Mutation_p.P275H|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	275	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGGAAACGGGGCGGGTTGTC	0.617000													5	187					3.59834e-05	4.14354e-05	1	1	0
NUP210L	91181	broad.mit.edu	37	1	153995740	153995740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:153995740G>A	ENST00000368559.3	-	31	4227	c.4156C>T	c.(4156-4158)Caa>Taa	p.Q1386*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.Q319*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Q1386*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1386						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTTGGGTTGGCTGCTCACT	0.483000													9	112					0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170674954	170674954	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:170674954T>A	ENST00000393381.2	-	2	156	c.81A>T	c.(79-81)aaA>aaT	p.K27N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	27						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTCACAGAATTTACTTTTCT	0.348000													4	47					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58008537	58008537	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:58008537G>T	ENST00000286494.4	+	9	1342	c.882G>T	c.(880-882)cgG>cgT	p.R294R	ARHGEF25_ENST00000333972.7_Silent_p.R333R|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	294	DH.|Important for binding to Rho GTPases.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGTGCAGCGGATCATGAAAT	0.602000													11	17					2.80697e-09	3.63115e-09	1	1	0
SLC16A5	9121	broad.mit.edu	37	17	73102069	73102069	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:73102069T>C	ENST00000450736.2	+	6	1874	c.1459T>C	c.(1459-1461)Tgg>Cgg	p.W487R	SLC16A5_ENST00000580123.1_Missense_Mutation_p.W487R|SLC16A5_ENST00000329783.4_Missense_Mutation_p.W487R			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	487					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGGCTCTTATGGCCAAAGGC	0.587000											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829423	2829423	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrY:2829423A>T	ENST00000155093.3	+	3	691	c.370A>T	c.(370-372)Att>Ttt	p.I124F	ZFY_ENST00000383052.1_Missense_Mutation_p.I124F|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Missense_Mutation_p.I98F	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						AGCTTCTGACATTACTTCAAC	0.403000													24	132					0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134346228	134346228	+	Translation_Start_Site	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:134346228T>G	ENST00000393132.2	+	0	458				BPGM_ENST00000418040.1_De_novo_Start_InFrame|BPGM_ENST00000344924.3_De_novo_Start_InFrame	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase						glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						TATTAGCCCATTTGAAAACGC	0.373000													24	42					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323630	31323630	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr18:31323630C>T	ENST00000269197.5	+	12	3818	c.3818C>T	c.(3817-3819)aCa>aTa	p.T1273I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1273	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAACACTACAATTTCTGCT	0.388000													7	46					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42183567	42183567	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:42183567C>G	ENST00000520810.1	+	20	2252	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	IKBKB_ENST00000416505.2_Missense_Mutation_p.S630C|IKBKB_ENST00000379708.3_Missense_Mutation_p.S466C|IKBKB_ENST00000520835.1_Missense_Mutation_p.S687C|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	689					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CAGCTGATGTCTCAGCCCTCC	0.562000													27	29					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107862936	107862936	+	Silent	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr13:107862936A>G	ENST00000375915.2	-	2	1221	c.1083T>C	c.(1081-1083)tgT>tgC	p.C361C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	361						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGTACCTGTACAGATGAAAC	0.458000													7	48					0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56045919	56045919	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:56045919C>G	ENST00000322090.3	+	2	222	c.193C>G	c.(193-195)Cta>Gta	p.L65V	GBAS_ENST00000487370.1_3'UTR|GBAS_ENST00000446778.1_Missense_Mutation_p.L65V	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	65						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCCAATCTCCTAGCCAAAAA	0.398000													7	114					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731278	21731278	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:21731278G>T	ENST00000584755.1	+	2	977	c.580G>T	c.(580-582)Ggc>Tgc	p.G194C	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.G194S(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GATCAGCAGAGGCTCATCTTT	0.547000													8	65					1.12685e-05	1.32264e-05	1	1	0
TAB2	23118	broad.mit.edu	37	6	149699976	149699976	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:149699976C>G	ENST00000367456.1	+	4	1502	c.925C>G	c.(925-927)Cat>Gat	p.H309D	TAB2_ENST00000286332.5_Missense_Mutation_p.H309D|TAB2_ENST00000538427.1_Missense_Mutation_p.H309D|TAB2_ENST00000536230.1_Missense_Mutation_p.H277D|TAB2_ENST00000392282.1_Missense_Mutation_p.H309D			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	309					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GTCTTCTGCCCATAGCCAATA	0.418000													18	80					0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182355392	182355392	+	Splice_Site	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:182355392C>T	ENST00000311223.5	-	5	1370	c.475_splice	c.e5+1	p.Q158_splice	GLUL_ENST00000417584.2_Splice_Site_p.Q158_splice|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Splice_Site_p.Q158_splice|GLUL_ENST00000331872.6_Splice_Site_p.Q158_splice	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	158					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GAGACTTACCCTGGGGCCCTG	0.552000													26	94					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50081137	50081137	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:50081137G>T	ENST00000298288.6	+	4	1492	c.1168G>T	c.(1168-1170)Ggt>Tgt	p.G390C	LRR1_ENST00000318317.4_3'UTR	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	390										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGATAATTTGGGTGGTACTGA	0.373000													3	72					0.004672	0.00498347	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48266905	48266905	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:48266905A>G	ENST00000302329.3	+	1	298	c.250A>G	c.(250-252)Ata>Gta	p.I84V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGGAAAGTCATATCTTGGTG	0.502000													11	124					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131334541	131334541	+	Missense_Mutation	SNP	C	C	T	rs141095230	byFrequency	TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:131334541C>T	ENST00000306010.7	+	2	150	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	40										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TGAAATGAAACGCACCACACT	0.458000								Direct reversal of damage					25	76					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16738407	16738407	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:16738407G>T	ENST00000380672.4	-	2	137	c.80C>A	c.(79-81)cCa>cAa	p.P27Q	BNC2_ENST00000380666.2_Missense_Mutation_p.P27Q|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Missense_Mutation_p.P27Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAAATATGCTGGCCAGTCTTG	0.443000													6	40					0.00116845	0.00126408	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220167119	220167119	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:220167119C>T	ENST00000295718.2	-	6	974	c.734G>A	c.(733-735)aGc>aAc	p.S245N	PTPRN_ENST00000409251.3_Missense_Mutation_p.S245N|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.S155N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	245					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGTTCTGCTGAAGAGGGC	0.632000													6	20					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41270013	41270013	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:41270013A>G	ENST00000284440.4	+	9	739	c.595A>G	c.(595-597)Aag>Gag	p.K199E	UCHL1_ENST00000503431.1_Missense_Mutation_p.K199E|UCHL1_ENST00000512788.1_Silent_p.P208P|UCHL1_ENST00000508768.1_Missense_Mutation_p.K183E	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	199					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGACGCTGCCAAGGTCTGCAG	0.493000													7	36					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220313108	220313108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:220313108C>T	ENST00000312358.7	+	4	1360	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Nonsense_Mutation_p.R306*|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	410					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		CTTCGAGGAGCGACGGCGCAG	0.736000													2	2					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49493042	49493042	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:49493042C>A	ENST00000371608.2	+	5	509	c.509C>A	c.(508-510)cCc>cAc	p.P170H	BCAS4_ENST00000262591.5_Missense_Mutation_p.P125H|BCAS4_ENST00000358791.5_Silent_p.A202A	NM_198799.2	NP_942094.2	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	0						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GCACCGGTGCCCGTGACGTAC	0.562000													6	207					0.00198382	0.00213858	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124266624	124266624	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:124266624C>A	ENST00000354597.3	-	1	640	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AACTGGGTACCATGATATTAA	0.418000													4	173					0.00909568	0.00956777	1	1	0
XDH	7498	broad.mit.edu	37	2	31571173	31571173	+	Silent	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:31571173C>A	ENST00000379416.3	-	28	3156	c.3108G>T	c.(3106-3108)ggG>ggT	p.G1036G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1036					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCATCTCAGTCCCCCCGTGGG	0.507000													19	47					0.000229342	0.000255384	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158670335	158670335	+	Silent	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:158670335A>T	ENST00000359610.2	-	1	151	c.108T>A	c.(106-108)gcT>gcA	p.A36A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAACAATGAAAGCATAGATGA	0.448000													10	87					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069381	29069381	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:29069381C>T	ENST00000373812.3	+	4	961	c.599C>T	c.(598-600)gCa>gTa	p.A200V	YTHDF2_ENST00000541996.1_Missense_Mutation_p.A150V|YTHDF2_ENST00000542507.1_Missense_Mutation_p.A200V|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	200					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAAGTTGCAAGCAATGTT	0.483000													4	26					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26807047	26807047	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:26807047C>A	ENST00000381340.3	-	21	3018	c.2602G>T	c.(2602-2604)Gct>Tct	p.A868S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	868					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGATTCCGAGCCAAGTGGACC	0.368000													13	44					2.68362e-12	3.72521e-12	1	1	0
PRPF40B	25766	broad.mit.edu	37	12	50029039	50029039	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:50029039C>A	ENST00000261897.1	+	12	1626	c.1075C>A	c.(1075-1077)Cgc>Agc	p.R359S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R387S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R365S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	365					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTCCACCACCCGCTACCGGTC	0.592000													27	49					3.17567e-06	3.77111e-06	1	1	0
DISP2	85455	broad.mit.edu	37	15	40661172	40661172	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:40661172G>T	ENST00000267889.3	+	8	2946	c.2859G>T	c.(2857-2859)ctG>ctT	p.L953L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	953					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTCTAGAGCTGTATAGCCTGC	0.627000													13	83					0.0202918	0.0211257	1	1	0
KLHL28	54813	broad.mit.edu	37	14	45414812	45414812	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45414812G>A	ENST00000396128.4	-	2	439	c.320C>T	c.(319-321)tCt>tTt	p.S107F	KLHL28_ENST00000355081.2_Missense_Mutation_p.S121F	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	107										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCAGGAGAGATTCAACTGT	0.413000													12	147					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719544	162719544	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:162719544G>T	ENST00000375514.5	+	7	1058	c.771G>T	c.(769-771)caG>caT	p.Q257H	SLC4A10_ENST00000535165.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q246H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q246H|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	246					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAAGAAACAGTCAGAACCAA	0.363000													9	43					2.74318e-10	3.70634e-10	1	1	0
CLDN7	1366	broad.mit.edu	37	17	7163726	7163726	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:7163726G>A	ENST00000360325.7	-	4	1037	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CLDN7_ENST00000397317.4_Silent_p.Y201Y|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_3'UTR	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	201					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGGACTTAGGGTAAGAGCGGG	0.592000													11	84					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45414803	45414803	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45414803G>A	ENST00000396128.4	-	2	448	c.329C>T	c.(328-330)cCa>cTa	p.P110L	KLHL28_ENST00000355081.2_Missense_Mutation_p.P124L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	110										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTTTGCTGCTGGCAGGAGAGA	0.408000													11	140					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846373	43846373	+	Missense_Mutation	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:43846373T>G	ENST00000389420.3	-	13	1885	c.1886A>C	c.(1885-1887)cAt>cCt	p.H629P	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H629P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	629	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATGTCCAAATGTTTACCATT	0.408000													15	37					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232466	71232466	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:71232466C>G	ENST00000226460.4	+	3	256	c.160C>G	c.(160-162)Cat>Gat	p.H54D		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	54	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCACCACCCCATCCTCCACC	0.572000													50	118					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53808688	53808688	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:53808688G>T	ENST00000288139.3	+	35	4363	c.4245G>T	c.(4243-4245)gcG>gcT	p.A1415A	CACNA1D_ENST00000350061.5_Silent_p.A1395A|CACNA1D_ENST00000540742.1_Silent_p.A287A|CACNA1D_ENST00000422281.2_Silent_p.A1380A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1395					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCCCCAGGCGGTGCTGCTGC	0.542000													13	50					1.37285e-15	1.94115e-15	1	1	0
HCK	3055	broad.mit.edu	37	20	30689307	30689307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:30689307C>A	ENST00000534862.1	+	14	1869	c.1506C>A	c.(1504-1506)taC>taA	p.Y502*	HCK_ENST00000518730.1_Nonsense_Mutation_p.Y500*|HCK_ENST00000375852.2_Nonsense_Mutation_p.Y522*|HCK_ENST00000375862.2_Nonsense_Mutation_p.Y521*|HCK_ENST00000538448.1_Nonsense_Mutation_p.Y501*|HCK_ENST00000520553.1_Nonsense_Mutation_p.Y501*	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	522	Protein kinase.		P -> Q (in dbSNP:rs17093828).		interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGCCAGTACCAACAGCAGC	0.632000													3	23					0.004672	0.00498347	1	1	0
VWF	7450	broad.mit.edu	37	12	6103686	6103686	+	Silent	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:6103686T>G	ENST00000261405.5	-	36	6405	c.6151A>C	c.(6151-6153)Aga>Cga	p.R2051R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2051	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGATTGAATCTGACCTCATGC	0.473000													23	129					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146664	220146664	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:220146664C>T	ENST00000336576.5	+	5	521	c.233C>T	c.(232-234)aCt>aTt	p.T78I	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.T78I	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	78					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTCCAGGAACTGGCCCATCT	0.622000													4	46					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866463	26866463	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:26866463G>A	ENST00000541819.2	-	5	729	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GABRB3_ENST00000299267.4_Silent_p.L153L|GABRB3_ENST00000311550.5_Silent_p.L153L|GABRB3_ENST00000400188.3_Silent_p.L82L|GABRB3_ENST00000545868.1_Silent_p.L68L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	153					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACACAGACCTGAGCCCATACA	0.438000													13	64					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45415118	45415118	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45415118G>A	ENST00000396128.4	-	2	133	c.14C>T	c.(13-15)tCc>tTc	p.S5F	KLHL28_ENST00000355081.2_Missense_Mutation_p.S19F	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	5										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTAGGTCGGGGATGTGTGGTC	0.378000													19	91					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819868	110819868	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:110819868G>C	ENST00000282356.4	+	11	1524	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E376Q|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	376					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCCAGAAGGAGAGAAAATTCA	0.522000													8	83					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													12	223					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149282	70149282	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:70149282G>A	ENST00000550536.1	+	2	599	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RAB3IP_ENST00000483530.2_Missense_Mutation_p.E32K|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E32K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E48K|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.E32K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	48					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGAACTCAAGAGCAGACTAC	0.458000													11	244					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429554	12429554	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:12429554C>T	ENST00000293725.5	-	4	1490	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGCTTTCCCACAC	0.428000													4	149					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825791	76825791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:76825791G>T	ENST00000248598.5	-	2	1157	c.1125C>A	c.(1123-1125)taC>taA	p.Y375*	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	375	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AGCCTGAACTGTAGTACAGCC	0.403000													4	82					0.014758	0.0154173	1	1	0
CDH7	1005	broad.mit.edu	37	18	63526255	63526255	+	Silent	SNP	C	C	T	rs147764044		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr18:63526255C>T	ENST00000536984.2	+	9	2161	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	CDH7_ENST00000323011.3_Silent_p.T489T|CDH7_ENST00000397968.2_Silent_p.T489T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	489	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATGAGACCACCGTCTGTGAAA	0.433000													8	65					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418000													5	83					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56825952	56825952	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:56825952G>T	ENST00000422247.2	+	6	953	c.719G>T	c.(718-720)tGc>tTc	p.C240F	CEP135_ENST00000257287.4_Intron			Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	446					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTACTTGCATAGTAGGG	0.363000													9	27					5.4927e-09	7.07535e-09	1	1	0
ZNF487	642819	broad.mit.edu	37	10	43971290	43971290	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:43971290C>T	ENST00000437590.2	+	2	259	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZNF487_ENST00000431662.1_Missense_Mutation_p.S75L																							CTCCTCCTCTCAGTGGGTAAG	0.458000													4	17					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712527	46712527	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:46712527C>T	ENST00000318962.4	-	26	2892	c.2809G>A	c.(2809-2811)Gac>Aac	p.D937N	ALS2CL_ENST00000415953.1_Missense_Mutation_p.D937N|ALS2CL_ENST00000383742.3_Missense_Mutation_p.D284N	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	937	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCCTCATGTCTTCTTTCTGG	0.592000													4	143					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202891	140202891	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:140202891G>T	ENST00000529859.1	+	1	1531	c.1531G>T	c.(1531-1533)Gcg>Tcg	p.A511S	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A511S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A511S|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTGCACGCGGAGAGCGG	0.706000													13	120					1.05317e-09	1.37409e-09	1	1	0
EYA1	2138	broad.mit.edu	37	8	72211347	72211347	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:72211347G>T	ENST00000340726.3	-	9	1400	c.761C>A	c.(760-762)gCc>gAc	p.A254D	EYA1_ENST00000303824.7_Missense_Mutation_p.A248D|EYA1_ENST00000388740.3_Missense_Mutation_p.A221D|EYA1_ENST00000388742.4_Missense_Mutation_p.A254D|EYA1_ENST00000388741.2_Missense_Mutation_p.A220D|EYA1_ENST00000419131.1_Missense_Mutation_p.A249D|EYA1_ENST00000388743.2_Missense_Mutation_p.A253D	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	254					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAAGTGGCATTGGTGGA	0.483000													10	232					4.36969e-10	5.87781e-10	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155891	22155891	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:22155891C>A	ENST00000397126.4	-	4	2093	c.1945G>T	c.(1945-1947)Gtc>Ttc	p.V649F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGACCTTAATAAAG	0.388000													27	71					1.77063e-15	2.492e-15	1	1	0
B3GAT2	135152	broad.mit.edu	37	6	71665781	71665781	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:71665781C>A	ENST00000230053.6	-	1	960	c.352G>T	c.(352-354)Gac>Tac	p.D118Y		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	118					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCGCCGCGTCCTCCACCAGG	0.731000													5	31					0.000602214	0.000656176	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164908563	164908563	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:164908563A>T	ENST00000475390.1	-	2	499	c.56T>A	c.(55-57)cTt>cAt	p.L19H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L19H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	19						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGTGCTTAGAAGAATTATCCA	0.418000										HNSCC(40;0.11)			24	44					0	0	1	0	0
IL23A	51561	broad.mit.edu	37	12	56733603	56733603	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:56733603C>T	ENST00000228534.4	+	3	556	c.390C>T	c.(388-390)ggC>ggT	p.G130G		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	130					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CCCTACTGGGCCTCAGCCAAC	0.542000													10	88					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158449054	158449054	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:158449054G>A	ENST00000409339.3	-	19	2399	c.2286C>T	c.(2284-2286)gtC>gtT	p.V762V	NCAPG2_ENST00000541468.1_Silent_p.V263V|NCAPG2_ENST00000449727.2_Silent_p.V762V|NCAPG2_ENST00000275830.10_Silent_p.V554V|NCAPG2_ENST00000356309.3_Silent_p.V762V|NCAPG2_ENST00000409423.1_Silent_p.V762V			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	762					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCAATGTAGACCAATGCCA	0.453000													9	75					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62592756	62592756	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:62592756G>T	ENST00000450537.1	-	16	2393	c.2333C>A	c.(2332-2334)gCc>gAc	p.A778D	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A778D|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A778D			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCCAGGTGGGCCCCCTGCAA	0.597000													13	229					9.31168e-06	1.09719e-05	1	1	0
KLHL28	54813	broad.mit.edu	37	14	45414807	45414807	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45414807G>A	ENST00000396128.4	-	2	444	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	KLHL28_ENST00000355081.2_Silent_p.L123L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	109										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGCTGGCAGGAGAGATTCA	0.418000													12	145					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433388	100433388	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:100433388G>T	ENST00000375147.3	+	23	2536	c.2280G>T	c.(2278-2280)caG>caT	p.Q760H		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	760					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TAATCCAGCAGTACATGGTGA	0.483000													9	72					1.61879e-10	2.19693e-10	1	1	0
UBQLN1	29979	broad.mit.edu	37	9	86294696	86294696	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:86294696C>T	ENST00000376395.4	-	4	1228	c.705G>A	c.(703-705)atG>atA	p.M235I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.M235I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	235					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ATACTTGTCTCATTATATCTG	0.323000													11	54					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86662523	86662523	+	Silent	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:86662523T>G	ENST00000531380.1	-	2	1580	c.1275A>C	c.(1273-1275)acA>acC	p.T425T	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	425					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTCTGTCTTTGTCCCATCCT	0.413000													27	109					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71068640	71068640	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:71068640G>C	ENST00000452400.2	-	11	2141	c.1960C>G	c.(1960-1962)Ccc>Gcc	p.P654A	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	654					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AAGGGCGAGGGCTCCATCTGA	0.547000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								38	61					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359339	33359339	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:33359339C>A	ENST00000334528.9	-	1	746	c.747G>T	c.(745-747)caG>caT	p.Q249H	FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.Q249H|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	374	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CACTCGAATTCTGGTTTGTTA	0.512000													11	89					2.27111e-07	2.78394e-07	1	1	0
IP6K1	9807	broad.mit.edu	37	3	49764843	49764843	+	Silent	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:49764843A>T	ENST00000321599.4	-	6	1339	c.1038T>A	c.(1036-1038)gcT>gcA	p.A346A	IP6K1_ENST00000395238.1_Silent_p.A181A|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Silent_p.A181A	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	346					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGCAGGACTCAGCCCGGCACT	0.627000													10	37					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313369	1313369	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:1313369G>A	ENST00000296839.2	+	1	695	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	144					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GACGCTGGCGGAGATCAACGA	0.642000													6	49					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493791	55493791	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:55493791C>A	ENST00000543010.1	+	6	868	c.725C>A	c.(724-726)gCg>gAg	p.A242E	NLRP2_ENST00000391721.4_Missense_Mutation_p.A218E|NLRP2_ENST00000448584.2_Missense_Mutation_p.A242E|NLRP2_ENST00000339757.7_Missense_Mutation_p.A220E|NLRP2_ENST00000263437.6_Missense_Mutation_p.A239E|NLRP2_ENST00000538819.1_Missense_Mutation_p.A218E|NLRP2_ENST00000427260.2_Missense_Mutation_p.A219E|NLRP2_ENST00000537859.1_Missense_Mutation_p.A220E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	242	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.A242V(3)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTCAAATATGCGTTCTACCTC	0.552000													13	9					0.000151284	0.000171606	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341578	55341578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:55341578G>T	ENST00000391728.4	+	9	1216	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Nonsense_Mutation_p.E300*|KIR3DL1_ENST00000538269.1_Nonsense_Mutation_p.E395*|KIR3DL1_ENST00000541392.1_Nonsense_Mutation_p.E378*|KIR3DL1_ENST00000326542.7_Nonsense_Mutation_p.E378*	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGACCCTGAGGAGGTGACATA	0.512000													42	254					8.72198e-27	1.27475e-26	1	1	0
KRT40	125115	broad.mit.edu	37	17	39135199	39135199	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:39135199G>A	ENST00000377755.4	-	6	1087	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	KRT40_ENST00000398486.2_Silent_p.I351I			Q6A162	K1C40_HUMAN	keratin 40	351	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCAGGTTATCGATCAGACACT	0.592000													4	152					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138413352	138413352	+	Silent	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:138413352C>G	ENST00000263598.2	+	1	69	c.9C>G	c.(7-9)ccC>ccG	p.P3P	LCN1_ENST00000371781.3_Silent_p.P3P	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	3					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGATGAAGCCCCTGCTCCTGG	0.652000													6	20					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19379600	19379600	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:19379600G>A	ENST00000380394.4	-	2	81	c.23C>T	c.(22-24)cCa>cTa	p.P8L	RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380384.1_5'UTR|RPS6_ENST00000380381.3_Missense_Mutation_p.P8L	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	8					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCCAGTGGCTGGGAAGGAGAT	0.443000													5	118					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566498	4566498	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:4566498C>G	ENST00000360213.1	+	1	78	c.78C>G	c.(76-78)caC>caG	p.H26Q		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H26H(2)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCCTACACGTCTGGCTCT	0.537000													4	86					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52912944	52912944	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:52912944A>T	ENST00000373980.4	+	2	749	c.332A>T	c.(331-333)gAa>gTa	p.E111V	PRKG1_ENST00000373985.1_Missense_Mutation_p.E84V|PRKG1_ENST00000401604.2_Missense_Mutation_p.E96V	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	96					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTATAAAGGAAGCTATCCTT	0.453000													44	103					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273857	10273857	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:10273857T>A	ENST00000254976.2	+	5	423	c.212T>A	c.(211-213)aTg>aAg	p.M71K	SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	71	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATAAGGACATGAAAGAAGCA	0.438000													19	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474087	179474087	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179474087G>T	ENST00000589042.1	-	273	52174	c.51950C>A	c.(51949-51951)cCt>cAt	p.P17317H	TTN_ENST00000591111.1_Missense_Mutation_p.P15676H|TTN_ENST00000342175.6_Missense_Mutation_p.P8444H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14749H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8252H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8377H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15676	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGTCAGAGGCAGGACAAA	0.448000													8	42					9.70103e-10	1.27667e-09	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142481342	142481342	+	RNA	SNP	G	G	C	rs146962136	by1000genomes	TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:142481342G>C	ENST00000603901.1	+	0	416					NR_001296.3																						GGCACCGAGTGCCTTATCTCC	0.557000													4	12					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99051639	99051639	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:99051639G>A	ENST00000292476.5	+	7	631	c.621G>A	c.(619-621)acG>acA	p.T207T	CPSF4_ENST00000451876.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Intron|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	207					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCCAGTTAACGAGTCAGAACT	0.537000													9	290					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75510968	75510968	+	Missense_Mutation	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:75510968A>C	ENST00000339365.2	+	4	437	c.275A>C	c.(274-276)cAg>cCg	p.Q92P	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.Q92P|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	92					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGAGATGTACAGAATGGGCCA	0.542000													4	44					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703101	55703101	+	Missense_Mutation	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:55703101A>C	ENST00000301532.3	-	1	775	c.776T>G	c.(775-777)tTt>tGt	p.F259C		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						TGAGTAAATAAAGAGGAGAGT	0.433000													5	29					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335702	117335702	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:117335702G>A	ENST00000321322.6	-	17	3402	c.3401C>T	c.(3400-3402)aCg>aTg	p.T1134M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T864M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1074	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAGGGCCCCGTGCCAGCCCG	0.622000													10	73					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366612	248366612	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248366612G>T	ENST00000456743.1	+	1	281	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACCCAAGATGGCCTTCAACT	0.512000													138	314					6.86218e-66	1.01761e-65	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814712	137814712	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:137814712C>G	ENST00000409968.1	+	3	1040	c.862C>G	c.(862-864)Cat>Gat	p.H288D	THSD7B_ENST00000413152.2_Missense_Mutation_p.H257D|THSD7B_ENST00000272643.3_Missense_Mutation_p.H288D|THSD7B_ENST00000543459.1_Missense_Mutation_p.H147D					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAAGCACATCATCATTCGAA	0.383000													7	45					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061538	13061538	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:13061538C>T	ENST00000014914.5	+	2	1245	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	119						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGCTGTCAGTCTGACCAAGCT	0.567000													6	259					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755468	55755468	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:55755468G>T	ENST00000373965.2	-	22	3224	c.2830C>A	c.(2830-2832)Ccg>Acg	p.P944T	PCDH15_ENST00000437009.1_Missense_Mutation_p.P866T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P937T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P548T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P937T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P915T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P942T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P937T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P900T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P937T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P944T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P937T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	937	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGCATCCGGAGCCACCATC	0.398000										HNSCC(58;0.16)			12	87					1.08611e-07	1.34218e-07	1	1	0
ASB10	136371	broad.mit.edu	37	7	150883746	150883746	+	Splice_Site	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:150883746C>A	ENST00000422024.1	-	2	577	c.451_splice	c.e2-1	p.R151_splice	ASB10_ENST00000377867.3_Splice_Site_p.G91_splice|ASB10_ENST00000275838.1_Splice_Site_p.R106_splice|ASB10_ENST00000420175.2_Splice_Site_p.R106_splice|ASB10_ENST00000434669.1_Splice_Site_p.R151_splice	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	106					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAGTCCTAGGGAGGG	0.647000													4	19					0.184627	0.186467	1	1	0
ATP2B1	490	broad.mit.edu	37	12	90017984	90017984	+	Silent	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:90017984C>A	ENST00000428670.3	-	9	1776	c.1320G>T	c.(1318-1320)acG>acT	p.T440T	ATP2B1_ENST00000393164.2_Silent_p.T183T|ATP2B1_ENST00000359142.3_Silent_p.T440T|ATP2B1_ENST00000261173.2_Silent_p.T440T|ATP2B1_ENST00000348959.3_Silent_p.T440T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	440					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAGTGAGATCGTGACTGCAA	0.378000													3	37					1	1	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149900782	149900782	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:149900782G>A	ENST00000369140.3	-	17	2085	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000439741.2_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_181873.3	NP_870988.2	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATCCAGAAGGGATGGGATTGG	0.388000													6	65					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98220516	98220516	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:98220516C>T	ENST00000430669.2	-	18	3334	c.2749G>A	c.(2749-2751)Gac>Aac	p.D917N	PTCH1_ENST00000429896.2_Missense_Mutation_p.D832N|PTCH1_ENST00000421141.1_Missense_Mutation_p.D832N|PTCH1_ENST00000437951.1_Missense_Mutation_p.D917N|PTCH1_ENST00000331920.6_Missense_Mutation_p.D983N|PTCH1_ENST00000375274.2_Missense_Mutation_p.D982N|PTCH1_ENST00000418258.1_Missense_Mutation_p.D832N			Q13635	PTC1_HUMAN	patched 1	983					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCTGAGGTGTCCCGCAAGCCG	0.567000													5	22					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34894132	34894132	+	Silent	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:34894132T>A	ENST00000592983.1	+	2	1762	c.1182T>A	c.(1180-1182)atT>atA	p.I394I	PIGW_ENST00000328396.2_Silent_p.I394I|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	394					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGATATAATTTTGAGTTTTG	0.343000													10	53					0	0	1	0	0
MIR509-3	100126337	broad.mit.edu	37	X	146341182	146341182	+	RNA	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:146341182A>T	ENST00000390725.1	-	0	62					NR_030629.1																						GCAGTACTCTACCCACAGACG	0.458000													11	96					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063124	55063124	+	RNA	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:55063124G>T	ENST00000526016.1	-	0	513					NR_038174.2																						GGCATCTTCTGATATTCAGCT	0.378000													7	16					1.58986e-06	1.91793e-06	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125590612	125590612	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:125590612C>G	ENST00000504087.1	-	4	4857	c.3820G>C	c.(3820-3822)Gaa>Caa	p.E1274Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1095Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1274	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAGAATTTTCTGATTTCCCC	0.388000													54	217					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380727	216380727	+	Silent	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:216380727A>C	ENST00000366943.2	-	16	3590	c.3204T>G	c.(3202-3204)tcT>tcG	p.S1068S	USH2A_ENST00000366942.3_Silent_p.S1068S|USH2A_ENST00000307340.3_Silent_p.S1068S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1068	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTGATAGCAGAAGAACTTT	0.418000										HNSCC(13;0.011)			7	120					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509169	23509169	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:23509169G>T	ENST00000296682.3	+	2	209	c.27G>T	c.(25-27)gaG>gaT	p.E9D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	9					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCAAGAGGAGAGCCCAGAAG	0.567000										HNSCC(3;0.000094)			15	38					1.50039e-11	2.05459e-11	1	1	0
DKK2	27123	broad.mit.edu	37	4	107845352	107845352	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:107845352C>G	ENST00000285311.3	-	4	1244	c.539G>C	c.(538-540)gGa>gCa	p.G180A	DKK2_ENST00000513208.1_Missense_Mutation_p.G80A|DKK2_ENST00000510463.1_Missense_Mutation_p.G134A	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	180					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGGGGTCTCCTTCATGCCC	0.423000													3	31					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136267	55136267	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:55136267T>A	ENST00000314706.3	+	1	908	c.908T>A	c.(907-909)cTa>cAa	p.L303Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACTGTAGTTCTAACTTTTATA	0.383000													54	216					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538434	152538434	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:152538434C>A	ENST00000368789.1	-	2	306	c.251G>T	c.(250-252)tGc>tTc	p.C84F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	84					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		ACCGTGGCAGCAGCCAGAGCC	0.617000													36	129					1.57019e-19	2.2516e-19	1	1	0
NKAIN2	154215	broad.mit.edu	37	6	124979407	124979407	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:124979407G>C	ENST00000368417.1	+	4	409	c.349G>C	c.(349-351)Gtg>Ctg	p.V117L	NKAIN2_ENST00000368416.1_Missense_Mutation_p.V117L|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.V102L	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	117						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		AGGATGTACGGTGACGTCAGT	0.493000													8	73					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17531109	17531109	+	Missense_Mutation	SNP	T	T	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:17531109T>G	ENST00000005226.7	-	18	1806	c.1807A>C	c.(1807-1809)Att>Ctt	p.I603L	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGGATGGGAATGGGGGGTGGA	0.662000													5	17					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55874559	55874559	+	Missense_Mutation	SNP	C	C	G	rs146571352	byFrequency	TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:55874559C>G	ENST00000447944.2	-	19	1611	c.1525G>C	c.(1525-1527)Gta>Cta	p.V509L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	509					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTATTGCTACGCCTGCAACA	0.373000													13	83					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710575	140710575	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:140710575C>G	ENST00000517417.1	+	1	324	c.324C>G	c.(322-324)atC>atG	p.I108M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.I108M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTAATATCCTTGTTGAGG	0.443000													19	144					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14015970	14015970	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr16:14015970G>T	ENST00000311895.7	+	2	299	c.290G>T	c.(289-291)cGc>cTc	p.R97L	ERCC4_ENST00000575156.1_Missense_Mutation_p.R97L	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	97					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGCAACAGTCGCTATGAAGTT	0.373000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	39					2.0095e-06	2.40507e-06	1	1	0
MUC5AC	4586	broad.mit.edu	37	11	1155162	1155162	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:1155162C>A	ENST00000356191.2	+	3	170	c.170C>A	c.(169-171)gCg>gAg	p.A57E						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCCGTGGGGCGACTGTCTTC	0.672000													6	23					0.000157383	0.000176548	1	1	0
LHFP	10186	broad.mit.edu	37	13	40175151	40175151	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr13:40175151C>T	ENST00000379589.3	-	2	665	c.203G>A	c.(202-204)tGt>tAt	p.C68Y		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	68						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ATAGCGCCCACATTCCTCCAC	0.602000			T	HMGA2	lipoma								45	160					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633573	45633573	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45633573G>T	ENST00000267430.5	+	10	1678	c.1593G>T	c.(1591-1593)caG>caT	p.Q531H	FANCM_ENST00000556036.1_Missense_Mutation_p.Q531H|FANCM_ENST00000542564.2_Missense_Mutation_p.Q505H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	531	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGTGAAACAGTTTCGTGACG	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	68					2.44723e-14	3.42838e-14	1	1	0
CTSA	5476	broad.mit.edu	37	20	44527020	44527020	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:44527020G>T	ENST00000372484.3	+	15	1710	c.1428G>T	c.(1426-1428)atG>atT	p.M476I	CTSA_ENST00000372459.2_Missense_Mutation_p.M458I|CTSA_ENST00000354880.5_Missense_Mutation_p.M459I|CTSA_ENST00000191018.5_Missense_Mutation_p.M458I	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	458					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGGCCACATGGTTCCCACCG	0.592000													5	51					1.23904e-05	1.44872e-05	1	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74533589	74533589	+	Splice_Site	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:74533589C>T	ENST00000553458.1	-	9	1141	c.1042_splice	c.e9-1	p.G348_splice	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Splice_Site_p.G335_splice|ALDH6A1_ENST00000555126.1_Splice_Site_p.G65_splice|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	348						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AGGCTGATCTCCTGTAAAACA	0.478000													10	23					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810885	38810885	+	Splice_Site	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:38810885G>T	ENST00000420274.1	+	9	1007	c.773_splice	c.e9+1	p.G258_splice	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	258	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GTCAAGTCTGGGTAATTGTGT	0.428000													12	141					1.05317e-09	1.37409e-09	1	1	0
BMP4	652	broad.mit.edu	37	14	54417079	54417079	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:54417079G>A	ENST00000245451.4	-	4	1291	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	BMP4_ENST00000559087.1_Missense_Mutation_p.R300W|BMP4_ENST00000558984.1_Missense_Mutation_p.R300W|BMP4_ENST00000417573.1_Missense_Mutation_p.R300W	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	300					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TTCCTGGCCCGCTGTGAGTGA	0.627000													3	44					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672295	77672295	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr13:77672295C>A	ENST00000407578.2	-	56	9260	c.8994G>T	c.(8992-8994)agG>agT	p.R2998S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R2960S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R2960S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.R483S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTTTTTGGGCCTGGTGTGTC	0.418000													5	126					0.184627	0.186467	1	1	0
FST	10468	broad.mit.edu	37	5	52779494	52779494	+	Silent	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:52779494A>G	ENST00000396947.3	+	3	604	c.438A>G	c.(436-438)ctA>ctG	p.L146L	FST_ENST00000256759.3_Silent_p.L146L	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	146	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GTGCACTCCTAAAGGCAAGAT	0.542000													9	46					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242690764	242690764	+	Silent	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:242690764G>C	ENST00000321264.4	+	8	1310	c.1101G>C	c.(1099-1101)gtG>gtC	p.V367V	D2HGDH_ENST00000403782.1_Silent_p.V233V|D2HGDH_ENST00000486953.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	367					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCGGCCTGGTGACCGATGGGA	0.627000													7	36					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825499	26825499	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:26825499G>T	ENST00000541819.2	-	7	919	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	GABRB3_ENST00000299267.4_Missense_Mutation_p.R217S|GABRB3_ENST00000311550.5_Missense_Mutation_p.R217S|GABRB3_ENST00000400188.3_Missense_Mutation_p.R146S|GABRB3_ENST00000545868.1_Missense_Mutation_p.R132S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	217					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGACCAGACGGTGCTCCACG	0.562000													15	85					5.03518e-11	6.86411e-11	1	1	0
STAB2	55576	broad.mit.edu	37	12	104106154	104106154	+	Silent	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:104106154C>A	ENST00000388887.2	+	41	4548	c.4344C>A	c.(4342-4344)acC>acA	p.T1448T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1448	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTGCCTCACCAACTCAGATG	0.522000													11	103					6.40141e-05	7.3159e-05	1	1	0
ITGB6	3694	broad.mit.edu	37	2	161025799	161025799	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:161025799T>C	ENST00000283249.2	-	7	1178	c.941A>G	c.(940-942)cAa>cGa	p.Q314R	ITGB6_ENST00000409967.2_Missense_Mutation_p.Q314R|ITGB6_ENST00000428609.2_Missense_Mutation_p.Q272R|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.Q314R			P18564	ITB6_HUMAN	integrin, beta 6	314	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATGAGTTGTCCAATTGT	0.274000													15	95					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344224	248344224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248344224G>T	ENST00000359682.2	+	1	937	c.937G>T	c.(937-939)Gag>Tag	p.E313*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCTGAGAGTGAGTTACCTCA	0.388000													24	263					1.85244e-09	2.40659e-09	1	1	0
NAGK	55577	broad.mit.edu	37	2	71299832	71299832	+	Silent	SNP	C	C	T	rs150661812		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:71299832C>T	ENST00000418807.3	+	4	428	c.264C>T	c.(262-264)tcC>tcT	p.S88S	NAGK_ENST00000455662.2_Silent_p.S185S|NAGK_ENST00000244204.5_Silent_p.S139S|NAGK_ENST00000428360.2_3'UTR			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	139					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTGATGGCTCCGAGAGTGGCT	0.602000													4	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403902	179403902	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179403902C>T	ENST00000589042.1	-	353	98984	c.98760G>A	c.(98758-98760)cgG>cgA	p.R32920R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R31279R|TTN_ENST00000342175.6_Silent_p.R24047R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R30352R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.R23855R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.R23980R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31279							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTGGGCCGGGACCAGG	0.473000													7	52					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46831310	46831310	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:46831310C>A	ENST00000529230.1	-	6	791	c.745G>T	c.(745-747)Ggt>Tgt	p.G249C	CKAP5_ENST00000415402.1_Missense_Mutation_p.G249C|CKAP5_ENST00000312055.5_Missense_Mutation_p.G249C|CKAP5_ENST00000354558.3_Missense_Mutation_p.G249C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	249					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCATCTCCACCAGCAGACTGT	0.428000													42	218					1.93748e-29	2.85919e-29	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53612061	53612061	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:53612061T>C	ENST00000342160.3	-	39	5369	c.4912A>G	c.(4912-4914)Att>Gtt	p.I1638V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I1638V|HUWE1_ENST00000218328.8_Missense_Mutation_p.I1638V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1638	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAGAATCAATAGTGCTATTG	0.473000													24	95					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:39721990G>A	ENST00000280082.3	+	5	1805	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000													10	141					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153137	5153137	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:5153137C>T	ENST00000307388.1	-	1	735	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A246T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAATGTGGGCAATGCATGTA	0.398000													18	66					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536856	146536856	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:146536856G>C	ENST00000361727.3	+	3	778	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	88	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D88N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTTCAGGTTGACTTTGGCAA	0.483000										HNSCC(39;0.1)			10	47					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208053	100208053	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:100208053G>T	ENST00000209668.2	-	3	326	c.213C>A	c.(211-213)gcC>gcA	p.A71A	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	71					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCACGATGCCGGCTGCCTCAT	0.507000													37	174					4.92203e-23	7.15931e-23	1	1	0
NMBR	4829	broad.mit.edu	37	6	142399902	142399902	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:142399902G>T	ENST00000258042.1	-	2	701	c.561C>A	c.(559-561)atC>atA	p.I187I		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	187					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAGCTACTGATGCGAGCCA	0.488000													8	165					0.00448238	0.004815	1	1	0
GRXCR1	389207	broad.mit.edu	37	4	42895397	42895397	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:42895397G>T	ENST00000399770.2	+	1	114	c.114G>T	c.(112-114)ccG>ccT	p.P38P		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	38			P -> L (in DFNB25).		cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGGGCAACCGTCAGGCTCTC	0.517000													18	180					2.94398e-08	3.71357e-08	1	1	0
CUBN	8029	broad.mit.edu	37	10	17110211	17110211	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:17110211G>T	ENST00000377833.4	-	21	2925	c.2860C>A	c.(2860-2862)Cac>Aac	p.H954N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	954	CUB 5.				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			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)	TTGATACCGTGGGGGTAGACA	0.368000													16	185					5.01169e-05	5.74926e-05	1	1	0
AGBL2	79841	broad.mit.edu	37	11	47681733	47681733	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:47681733A>G	ENST00000525123.1	-	19	2986	c.2701T>C	c.(2701-2703)Tac>Cac	p.Y901H	AGBL2_ENST00000298861.4_Missense_Mutation_p.Y901H|AGBL2_ENST00000357610.3_Missense_Mutation_p.Y903H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	901					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACCTACGGGTATGTGTATATG	0.512000													19	63					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271460	9271460	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:9271460A>G	ENST00000247956.6	+	7	1444	c.1139A>G	c.(1138-1140)cAc>cGc	p.H380R	ZNF317_ENST00000360385.3_Missense_Mutation_p.H348R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTTAATTTGCACAAGAAGAAC	0.522000													8	11					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038164	75038164	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:75038164C>T	ENST00000326665.5	-	14	3448	c.3230G>A	c.(3229-3231)aGa>aAa	p.R1077K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1077	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACCTCTTCTCTCTCAGAGTC	0.408000													6	168					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470800	76470800	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:76470800C>T	ENST00000396423.2	+	7	875	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	HNF4G_ENST00000354370.1_Missense_Mutation_p.R214C	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	214					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAGATTAGCCGTGTGGCCAA	0.378000													24	756					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657740	46657740	+	Silent	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:46657740C>A	ENST00000544460.1	+	1	2129	c.1875C>A	c.(1873-1875)ctC>ctA	p.L625L	TDRD6_ENST00000316081.6_Silent_p.L625L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	625					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGACTGTGCTCCACAAAGAAT	0.393000													9	25					0.307466	0.309502	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144947419	144947419	+	Translation_Start_Site	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:144947419C>A	ENST00000525985.1	-	2	74	c.3G>T	c.(1-3)atG>atT	p.M1I				P58107	EPIPL_HUMAN	epiplakin 1	1						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTGGCCACTCATCACACACG	0.647000													6	34					0.0215528	0.0223619	1	1	0
SGOL1	151648	broad.mit.edu	37	3	20215786	20215786	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:20215786C>T	ENST00000412997.1	-	6	1588	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.D413N|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.D413N|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.D413N	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	413					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			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TCTTTTTCATCTGTGTATTTC	0.408000													29	109					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196312	21196312	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:21196312T>C	ENST00000381541.3	+	7	837	c.772T>C	c.(772-774)Tgg>Cgg	p.W258R	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.W258R|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.W211R																							GGTTGGAGCTTGGTGGCTTGG	0.373000													31	153					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37406057	37406057	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:37406057G>A	ENST00000520965.1	-	2	322	c.256C>T	c.(256-258)Cct>Tct	p.P86S	ZNF829_ENST00000391711.3_Missense_Mutation_p.P5S	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	5	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGATCAGAGGAGAATGGGGC	0.498000													6	41					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154931485	154931485	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:154931485C>T	ENST00000368457.2	-	3	1162	c.991G>A	c.(991-993)Ggt>Agt	p.G331S	PYGO2_ENST00000368456.1_Missense_Mutation_p.G294S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	331					Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGACAGGCACCACATGGGTAC	0.642000													7	51					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308491	248308491	+	Silent	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248308491C>G	ENST00000366476.1	+	1	42	c.42C>G	c.(40-42)ctC>ctG	p.L14L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			ACTTCATCCTCCTGGGAATCT	0.438000													36	288					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152319779	152319779	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:152319779G>C	ENST00000243326.4	+	29	4228	c.3745G>C	c.(3745-3747)Gtg>Ctg	p.V1249L	RIF1_ENST00000444746.2_Missense_Mutation_p.V1249L|RIF1_ENST00000453091.2_Missense_Mutation_p.V1249L|RIF1_ENST00000430328.2_Missense_Mutation_p.V1249L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1249L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1249					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACTGTTACAGTGAAAAATAA	0.333000													10	75					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	A	rs146431931		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:26825521C>A	ENST00000541819.2	-	7	897	c.795G>T	c.(793-795)ccG>ccT	p.P265P	GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000311550.5_Silent_p.P209P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000545868.1_Silent_p.P124P			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGAGAACTGCGGGAGCTCAA	0.562000													15	82					0.000219431	0.000245247	1	1	0
CR1	1378	broad.mit.edu	37	1	207790041	207790041	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:207790041G>A	ENST00000367049.4	+	41	6783	c.6783G>A	c.(6781-6783)atG>atA	p.M2261I	CR1_ENST00000367051.1_Missense_Mutation_p.M1811I|CR1_ENST00000367052.1_Missense_Mutation_p.M1811I|CR1_ENST00000400960.2_Missense_Mutation_p.M1811I|CR1_ENST00000367053.1_Missense_Mutation_p.M1811I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1811					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAGAGGGATGACCTTCAACC	0.522000													84	127					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136310829	136310829	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:136310829A>G	ENST00000371929.3	+	21	3064	c.2620A>G	c.(2620-2622)Acc>Gcc	p.T874A	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T874A|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T843A|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	874					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTGGATGCCACCTCTGCAGG	0.647000													12	19					0	0	1	0	0
SMIM7	79086	broad.mit.edu	37	19	16764904	16764904	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:16764904T>C	ENST00000487416.2	-	4	200	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000597711.1_Intron|SMIM7_ENST00000358726.6_Missense_Mutation_p.R52G|CTC-429P9.4_ENST00000600705.1_Intron|SMIM7_ENST00000397349.2_5'UTR	NM_024104.3	NP_077009.2			small integral membrane protein 7																		CGAAAGTATCTGAGGCTCAGC	0.483000													3	47					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95264875	95264875	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:95264875G>A	ENST00000344604.5	-	8	1673	c.1524C>T	c.(1522-1524)acC>acT	p.T508T	ECM2_ENST00000444490.2_Silent_p.T486T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	508					cell-matrix adhesion		integrin binding	p.T486T(1)|p.T508T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TGATCTTTCTGGTATGATTGA	0.274000													6	25					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45415125	45415125	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45415125G>A	ENST00000396128.4	-	2	126	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	KLHL28_ENST00000355081.2_Missense_Mutation_p.H17Y	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	3										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGGATGTGTGGTCCATCTAC	0.373000													19	87					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418979	418979	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:418979C>A	ENST00000332826.6	-	21	2029	c.1945G>T	c.(1945-1947)Ggc>Tgc	p.G649C		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	649						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTGACGTAGCCCTTGAGGCAG	0.617000													7	148					8.12818e-05	9.25456e-05	1	1	0
ACTA1	58	broad.mit.edu	37	1	229567839	229567839	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:229567839G>A	ENST00000366684.3	-	5	812	c.710C>T	c.(709-711)tCc>tTc	p.S237F	ACTA1_ENST00000366683.2_Missense_Mutation_p.S149F	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	237					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CTTTTCCAGGGAGGAGGAGGA	0.637000													3	24					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3942134	3942134	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:3942134G>A	ENST00000168977.2	+	8	846	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NMRK2_ENST00000593949.1_Missense_Mutation_p.D191N|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		AGTCCTGGAAGACATTCAGAA	0.637000													4	58					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73815767	73815767	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:73815767C>T	ENST00000332687.6	-	2	264	c.46G>A	c.(46-48)Gca>Aca	p.A16T	RLIM_ENST00000349225.2_Missense_Mutation_p.A16T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	16					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCTGTGCTGCAGACTGATCA	0.378000													9	31					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489437	237489437	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:237489437G>C	ENST00000272928.3	+	2	639	c.329G>C	c.(328-330)tGg>tCg	p.W110S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CACAACCAGTGGCCCATGGGC	0.562000													11	124					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59835440	59835440	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:59835440G>T	ENST00000395125.1	+	25	3123	c.3100G>T	c.(3100-3102)Gat>Tat	p.D1034Y	DAAM1_ENST00000351081.1_Missense_Mutation_p.D1034Y|DAAM1_ENST00000360909.3_Missense_Mutation_p.D1024Y|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1034	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGGAGAGTTTGATGACCTTGT	0.388000													4	67					0.00909568	0.00956777	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189918906	189918906	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:189918906C>T	ENST00000374866.3	-	36	2698	c.2424G>A	c.(2422-2424)ccG>ccA	p.P808P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	808					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TAGGACCTGCCGGACCTGGAG	0.398000													4	99					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42795487	42795487	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr13:42795487T>C	ENST00000379274.2	+	29	3551	c.3122T>C	c.(3121-3123)aTc>aCc	p.I1041T	DGKH_ENST00000540693.1_Intron|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000337343.4_Missense_Mutation_p.I1177T|DGKH_ENST00000498255.2_Intron|DGKH_ENST00000536612.1_Missense_Mutation_p.I1041T|DGKH_ENST00000261491.4_Intron			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1177					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CGTCATGACATCAGAGGGGCT	0.413000													13	115					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554545	179554545	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179554545G>T	ENST00000589042.1	-	122	32065	c.31841C>A	c.(31840-31842)gCt>gAt	p.A10614D	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A10297D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A9370D|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10297	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACCTTTAGCTGGGGGAGC	0.368000													16	142					6.94344e-10	9.25792e-10	1	1	0
TMEM139	135932	broad.mit.edu	37	7	142983074	142983074	+	Silent	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:142983074G>C	ENST00000359333.3	+	2	537	c.24G>C	c.(22-24)ggG>ggC	p.G8G	AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409102.1_Silent_p.G8G|TMEM139_ENST00000410004.1_Silent_p.G8G|TMEM139_ENST00000409244.1_Silent_p.G8G|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Silent_p.G8G	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	8						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACTTACTGGGGAGACTGGAGA	0.552000													8	54					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792846	131792846	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:131792846G>T	ENST00000286355.5	-	18	5638	c.3546C>A	c.(3544-3546)ccC>ccA	p.P1182P	ADCY8_ENST00000377928.3_Silent_p.P1051P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1182					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCTTCTTGGGGGCAAGATGA	0.512000										HNSCC(32;0.087)			6	133					3.59834e-05	4.14354e-05	1	1	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													4	117					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83963432	83963432	+	Missense_Mutation	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:83963432A>C	ENST00000369705.3	-	7	846	c.730T>G	c.(730-732)Ttt>Gtt	p.F244V	ME1_ENST00000541327.1_Missense_Mutation_p.F78V|ME1_ENST00000543031.1_Missense_Mutation_p.F169V	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	244					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAATCTTCAAACTGAATAAGG	0.308000													14	95					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565613	11565613	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:11565613C>A	ENST00000359227.3	-	7	1256	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G271C	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	278					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						cccgccgcgccccccgACAGG	0.682000													39	43					9.85521e-28	1.44733e-27	1	1	0
GOLGA4	2803	broad.mit.edu	37	3	37379191	37379191	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:37379191A>T	ENST00000361924.2	+	19	6736	c.6362A>T	c.(6361-6363)gAt>gTt	p.D2121V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.D2136V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2121					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTAATCAGTGATTCGAAATTG	0.378000													16	47					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905469	905469	+	Missense_Mutation	SNP	G	G	T	rs8192594		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr18:905469G>T	ENST00000579794.1	+	1	360	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.A28S	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	28					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CTCACCTGCCGCCGCCGGACT	0.632000													13	89					2.27111e-07	2.78394e-07	1	1	0
C9orf24	84688	broad.mit.edu	37	9	34379708	34379708	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:34379708G>C	ENST00000297623.2	-	6	923	c.725C>G	c.(724-726)cCg>cGg	p.P242R	C9orf24_ENST00000379133.3_Missense_Mutation_p.P107R|C9orf24_ENST00000379126.3_Missense_Mutation_p.R56G|C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379124.1_Missense_Mutation_p.R109G|C9orf24_ENST00000379127.1_Missense_Mutation_p.R109G	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	242										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ATTCCGGGCCGGTGCTCGTAG	0.567000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	96					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662435	662435	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:662435A>T	ENST00000266383.5	+	14	1359	c.1346A>T	c.(1345-1347)aAt>aTt	p.N449I		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	449						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AACAACCAGAATGCCAGGATG	0.547000													28	188					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862809	10862809	+	RNA	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr21:10862809C>A	ENST00000559480.1	+	0	105																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGCCTGGGGCCTCAGTGAAGG	0.562000													9	151					0.000274275	0.000299927	1	1	0
PROX1	5629	broad.mit.edu	37	1	214169983	214169983	+	Silent	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:214169983T>C	ENST00000366958.4	+	2	713	c.105T>C	c.(103-105)gcT>gcC	p.A35A	PROX1_ENST00000261454.4_Silent_p.A35A|PROX1_ENST00000435016.1_Silent_p.A35A|PROX1_ENST00000498508.2_Silent_p.A35A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	35					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATTTTTTGCTAAGGCAAGAG	0.478000													6	82					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757446	93757446	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:93757446G>C	ENST00000265990.6	+	25	3906	c.3598G>C	c.(3598-3600)Gac>Cac	p.D1200H	BTAF1_ENST00000544642.1_Missense_Mutation_p.D28H	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1200					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGATCAGACAGACAGTGTGAG	0.378000													11	86					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57481088	57481088	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:57481088G>T	ENST00000371236.2	-	12	1175	c.912C>A	c.(910-912)ggC>ggA	p.G304G	DAB1_ENST00000439789.2_Silent_p.G218G|DAB1_ENST00000414851.2_Silent_p.G286G|DAB1_ENST00000371234.4_Silent_p.G304G|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.G302G|DAB1_ENST00000371231.1_Silent_p.G337G			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	337					cell differentiation|nervous system development			p.G304G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAGGACAGCGCCCATTGCAA	0.572000													3	22					0.115264	0.118379	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248202245	248202245	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248202245C>G	ENST00000366479.2	+	1	772	c.676C>G	c.(676-678)Cgc>Ggc	p.R226G	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTGTCTACCGCATGCACTC	0.488000													23	191					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042108	90042108	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:90042108A>T	ENST00000535571.1	+	2	427	c.118A>T	c.(118-120)Aca>Tca	p.T40S	CLDN12_ENST00000287916.4_Missense_Mutation_p.T40S|CLDN12_ENST00000394605.2_Missense_Mutation_p.T40S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	40					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						ACGATTGATCACATTCAACAG	0.517000													4	43					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85566417	85566417	+	Silent	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:85566417A>C	ENST00000295887.5	+	12	1618	c.1195A>C	c.(1195-1197)Aga>Cga	p.R399R		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	399					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATAATGGACAGATTTGATTG	0.299000													31	75					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154748	2154748	+	Splice_Site	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:2154748G>A	ENST00000416167.2	-	3	1471	c.306_splice	c.e3+1	p.P102_splice	IGF2_ENST00000434045.2_Splice_Site_p.P158_splice|IGF2_ENST00000300632.5_Splice_Site_p.P102_splice|IGF2_ENST00000418738.2_Splice_Site_p.P102_splice|IGF2_ENST00000381406.4_Splice_Site_p.P105_splice|IGF2_ENST00000381389.1_Splice_Site_p.P102_splice|IGF2_ENST00000337883.6_Splice_Site_p.P102_splice|IGF2_ENST00000381395.1_Splice_Site_p.P102_splice|IGF2_ENST00000381392.1_Splice_Site_p.P105_splice			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GACCCTCACCGGAAGCACGGT	0.642000													4	27					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242138778	242138778	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:242138778C>A	ENST00000274979.8	+	5	622	c.519C>A	c.(517-519)agC>agA	p.S173R	ANO7_ENST00000402430.3_Missense_Mutation_p.S172R	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	173						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						CCCTCCTCAGCGCCTCCTGGG	0.652000													7	70					5.18039e-06	6.12778e-06	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535394	90535394	+	RNA	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:90535394C>T	ENST00000602681.1	+	0	1298																											ACCTCAGTCTCCTCCCTAAGT	0.612000													21	193					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124509640	124509640	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:124509640T>C	ENST00000263593.3	-	8	1262	c.1090A>G	c.(1090-1092)Atg>Gtg	p.M364V	SIAE_ENST00000545756.1_Missense_Mutation_p.M329V			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	364						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	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;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CAGAGATCCATAGCTACAGCC	0.468000													14	131					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385459	79385459	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:79385459G>C	ENST00000393878.1	-	3	580	c.326C>G	c.(325-327)cCc>cGc	p.P109R	REG3A_ENST00000409839.3_Missense_Mutation_p.P109R|REG3A_ENST00000305165.2_Missense_Mutation_p.P109R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	109	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CACCTGTGTGGGGTCATGGAG	0.567000													5	65					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168095	90168095	+	Silent	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:90168095T>A	ENST00000268138.7	+	20	4659	c.4554T>A	c.(4552-4554)ccT>ccA	p.P1518P	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.P1517P					TOPBP1-interacting checkpoint and replication regulator																		CTGGCTCTCCTCTGATGCCTT	0.577000													57	54					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													3	32					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254832	16254832	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:16254832G>A	ENST00000259727.4	+	4	445	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	111					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAATGATCTGGAAAAGATGAC	0.453000													53	91					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	69					0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861512	27861512	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:27861512C>A	ENST00000303806.4	+	1	310	c.272C>A	c.(271-273)aCc>aAc	p.T91N		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	91					nucleosome assembly	nucleosome|nucleus	DNA binding										TCGACCATCACCTCCAGGGAG	0.627000													10	115					9.70103e-10	1.27667e-09	1	1	0
RBM5	10181	broad.mit.edu	37	3	50147085	50147085	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:50147085G>A	ENST00000347869.3	+	15	1417	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	414	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGTCCTCAGCTGTATAATC	0.488000													56	131					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108066250	108066250	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:108066250G>T	ENST00000369022.2	-	4	620	c.411C>A	c.(409-411)agC>agA	p.S137R	SCML4_ENST00000369021.3_Missense_Mutation_p.S166R|SCML4_ENST00000369020.3_Missense_Mutation_p.S195R			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CGCACAGGAGGCTTCGGCACA	0.592000													9	46					0.000274275	0.000299927	1	1	0
ATF2	1386	broad.mit.edu	37	2	175939413	175939413	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:175939413G>A	ENST00000264110.2	-	14	1740	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	ATF2_ENST00000392543.2_Missense_Mutation_p.A102V|ATF2_ENST00000409437.1_Missense_Mutation_p.A365V|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.A481V|ATF2_ENST00000409499.1_Missense_Mutation_p.A120V|ATF2_ENST00000345739.5_Missense_Mutation_p.A423V|ATF2_ENST00000426833.3_Missense_Mutation_p.A463V|ATF2_ENST00000409635.1_Missense_Mutation_p.A423V	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	481					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACTCTGGTCCGCCATCTGGGT	0.498000													3	42					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135515583	135515583	+	Silent	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:135515583A>T	ENST00000341911.5	+	8	1132	c.933A>T	c.(931-933)ggA>ggT	p.G311G	MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Silent_p.G311G|MYB_ENST00000534121.1_Silent_p.G311G|MYB_ENST00000316528.8_Silent_p.G311G|MYB_ENST00000420123.2_Silent_p.G287G|MYB_ENST00000534044.1_Silent_p.G311G|MYB_ENST00000525369.1_Silent_p.G311G|MYB_ENST00000527615.1_Silent_p.G311G|MYB_ENST00000533624.1_Intron|MYB_ENST00000442647.2_Silent_p.G311G|MYB_ENST00000528774.1_Silent_p.G311G	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	311	Transcriptional activation domain.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCTAAAAGGACAGCAGGTGC	0.408000			T	NFIB	adenoid cystic carcinoma								4	51					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225793	158225793	+	Splice_Site	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:158225793G>C	ENST00000289429.5	+	3	858		c.e3-1			NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule						antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATAACCCCAGATCCTTTTGA	0.423000													5	102					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575957	119575957	+	Silent	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:119575957T>A	ENST00000235521.4	-	6	686	c.660A>T	c.(658-660)ctA>ctT	p.L220L	WARS2_ENST00000537870.1_Silent_p.L126L|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	220					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AAGGATCACGTAGGGATTTTA	0.438000													41	152					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018718	1018718	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:1018718G>A	ENST00000421673.2	-	31	4133	c.4083C>T	c.(4081-4083)ggC>ggT	p.G1361G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1361	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGACGTGGGCCTGTCGTCT	0.542000													13	118					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113517288	113517288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:113517288G>T	ENST00000273398.3	+	12	1597	c.1489G>T	c.(1489-1491)Gga>Tga	p.G497*	ATP6V1A_ENST00000538620.1_Nonsense_Mutation_p.G464*	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	497					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAGCTTGTGGGAAAGGTGAG	0.428000													12	59					1.5842e-08	2.02352e-08	1	1	0
RASGEF1A	221002	broad.mit.edu	37	10	43691988	43691988	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:43691988C>T	ENST00000395809.1	-	12	3863	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.V461I|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.V453I			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	453	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.V453I(1)|p.V400I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGGAGGCGACGAAGAGAGCT	0.562000													10	110					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911689	88911689	+	Missense_Mutation	SNP	G	G	A	rs61754361		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:88911689G>A	ENST00000263321.5	+	1	1070	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	190					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCACTGCTTGGGGGATCTGA	0.423000													13	148					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367064	248367064	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248367064A>T	ENST00000456743.1	+	1	733	c.695A>T	c.(694-696)gAg>gTg	p.E232V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGATCTGGAGAGGGTCGTCGC	0.448000													6	365					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905431	15905431	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:15905431C>A	ENST00000375826.3	-	4	785	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	215					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTTACAGTCCAGGAGACCC	0.627000													4	39					0.150653	0.153173	1	1	0
TTN	7273	broad.mit.edu	37	2	179439116	179439116	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179439116G>T	ENST00000589042.1	-	326	71967	c.71743C>A	c.(71743-71745)Cca>Aca	p.P23915T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22274T|TTN_ENST00000342175.6_Missense_Mutation_p.P15042T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21347T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14850T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14975T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22274	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGATGGCTTGCTTGGC	0.438000													10	178					1.33987e-11	1.84308e-11	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237928	33237928	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:33237928C>T	ENST00000401073.2	+	6	3218	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P991S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P1002S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	991										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTTACTGCTCCTCCCACCAA	0.652000													19	79					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913773	129913773	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:129913773C>A	ENST00000368654.3	-	7	1274	c.899G>T	c.(898-900)gGc>gTc	p.G300V	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	300					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACAGCGTGGCCGCTCCCACC	0.532000													5	67					2.0095e-06	2.40507e-06	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599520	136599520	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:136599520T>C	ENST00000531224.1	-	4	751	c.499A>G	c.(499-501)Aaa>Gaa	p.K167E	BCLAF1_ENST00000392348.2_Missense_Mutation_p.K165E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K165E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K167E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K167E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K165E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	167					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCAGCTTTTTTGGTTTGTTTT	0.423000													7	198					0	0	1	0	0
LOC647323	647323	broad.mit.edu	37	3	193711310	193711310	+	RNA	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:193711310C>G	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						CTCTTTGTGTCTGCTGAGAGA	0.502000													3	24					0	0	1	0	0
IFNB1	3456	broad.mit.edu	37	9	21077496	21077496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:21077496C>A	ENST00000380232.2	-	1	447	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	125					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCCAGTTTTTCTTCCAGGACT	0.433000													47	156					3.19069e-20	4.59701e-20	1	1	0
ACY1	95	broad.mit.edu	37	3	52022801	52022801	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:52022801G>C	ENST00000458031.2	+	16	1522	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ACY1_ENST00000476351.1_Missense_Mutation_p.E306Q|ACY1_ENST00000494103.1_Missense_Mutation_p.E269Q|ACY1_ENST00000476854.1_Missense_Mutation_p.E276Q|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E442Q|ACY1_ENST00000404366.2_Missense_Mutation_p.E341Q			Q03154	ACY1_HUMAN	aminoacylase 1	341					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TCTGGAGCCTGAGATCATGCC	0.562000													12	328					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45415021	45415021	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:45415021G>A	ENST00000396128.4	-	2	230	c.111C>T	c.(109-111)atC>atT	p.I37I	KLHL28_ENST00000355081.2_Silent_p.I51I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	37	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTCGAAGAATGATGTCACAGA	0.443000													18	120					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244397	168244397	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:168244397C>A	ENST00000519560.1	-	8	1120	c.701G>T	c.(700-702)cGg>cTg	p.R234L	SLIT3_ENST00000332966.8_Missense_Mutation_p.R234L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAACTGTCCGTCGCTGTCG	0.612000													4	60					5.9392e-07	7.22207e-07	1	1	0
ANXA7	310	broad.mit.edu	37	10	75147496	75147496	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:75147496T>C	ENST00000372921.4	-	7	640	c.584A>G	c.(583-585)aAt>aGt	p.N195S	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.N65S	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	217							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CCTCTGATCATTGGAACGGTT	0.463000													51	148					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16025961	16025961	+	Silent	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:16025961G>T	ENST00000505450.1	-	6	1236	c.624C>A	c.(622-624)gcC>gcA	p.A208A	PROM1_ENST00000540805.1_Silent_p.A217A|PROM1_ENST00000543373.1_Silent_p.A208A|PROM1_ENST00000510224.1_Silent_p.A217A|PROM1_ENST00000539194.1_Silent_p.A217A|PROM1_ENST00000447510.2_Silent_p.A217A|PROM1_ENST00000508167.1_Silent_p.A208A|PROM1_ENST00000502943.1_5'UTR	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	217					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGTTGTACTGGGCCAATATAT	0.358000													7	58					9.70103e-10	1.27667e-09	1	1	0
OR13C9	286362	broad.mit.edu	37	9	107380196	107380196	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:107380196C>G	ENST00000259362.1	-	1	289	c.290G>C	c.(289-291)tGt>tCt	p.C97S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTGCACTGCACAGCCAGAAAA	0.517000													19	111					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756821	49756821	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:49756821G>A	ENST00000535833.1	-	10	3528	c.78C>T	c.(76-78)ttC>ttT	p.F26F	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.F26F|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	26	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGGGCGGGAAACCCTCGG	0.642000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	85					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234090	190234090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:190234090C>A	ENST00000367462.3	-	4	754	c.523G>T	c.(523-525)Gag>Tag	p.E175*	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Nonsense_Mutation_p.E73*|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		175						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTAGCGTCTCCAGAGTGACC	0.483000													8	103					0.000157383	0.000176548	1	1	0
TMEM59L	25789	broad.mit.edu	37	19	18731311	18731311	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:18731311C>A	ENST00000600490.1	+	9	1179	c.994C>A	c.(994-996)Ccc>Acc	p.P332T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.P332T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	332						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAGCCTACCACCCTACAAGCT	0.657000													14	56					2.31682e-05	2.68822e-05	1	1	0
SPEN	23013	broad.mit.edu	37	1	16262465	16262465	+	Missense_Mutation	SNP	A	A	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:16262465A>C	ENST00000375759.3	+	11	9934	c.9730A>C	c.(9730-9732)Acc>Ccc	p.T3244P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3244	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCTgcccccacccccacccc	0.672000													7	13					0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156566362	156566362	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:156566362T>A	ENST00000286317.5	-	2	462	c.81A>T	c.(79-81)caA>caT	p.Q27H	MED7_ENST00000420343.1_Missense_Mutation_p.Q27H	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	27					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAAGCCTTCTTGAATATTTT	0.428000													7	78					0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882715	143882715	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:143882715C>A	ENST00000486333.1	+	1	2157	c.2119C>A	c.(2119-2121)Cca>Aca	p.P707T		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	707	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TCCATTGTTTCCAGTGGATAC	0.502000													9	359					1.08611e-07	1.34218e-07	1	1	0
GPR174	84636	broad.mit.edu	37	X	78427266	78427266	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:78427266C>G	ENST00000276077.1	+	1	798	c.762C>G	c.(760-762)ttC>ttG	p.F254L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	254						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTTAGATTTCCTGGTGAAGT	0.388000										HNSCC(63;0.18)			9	35					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6680180	6680180	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:6680180T>C	ENST00000245907.6	-	36	4537	c.4445A>G	c.(4444-4446)tAt>tGt	p.Y1482C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1482					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGGTTGTAATAGGCGTAGAC	0.498000													8	61					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33016066	33016066	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:33016066A>T	ENST00000280979.4	+	4	2377	c.2207A>T	c.(2206-2208)tAt>tTt	p.Y736F	AKAP6_ENST00000557272.1_Missense_Mutation_p.Y736F|AKAP6_ENST00000557354.1_Missense_Mutation_p.Y736F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	736					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGAAAAAGTATGCTGATGAG	0.443000													9	89					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62908936	62908936	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:62908936A>G	ENST00000339950.4	+	5	1318	c.503A>G	c.(502-504)gAg>gGg	p.E168G	USP1_ENST00000371146.1_Missense_Mutation_p.E168G	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	168					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTAAATCCAGAGAAATATACT	0.368000													4	49					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502610	33502610	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:33502610C>G	ENST00000265371.4	-	10	1843	c.1318G>C	c.(1318-1320)Gga>Cga	p.G440R	NRP1_ENST00000374821.5_Missense_Mutation_p.G440R|NRP1_ENST00000374822.4_Missense_Mutation_p.G440R|NRP1_ENST00000374823.5_Missense_Mutation_p.G440R|NRP1_ENST00000374867.2_Missense_Mutation_p.G440R|NRP1_ENST00000395995.1_Missense_Mutation_p.G440R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Missense_Mutation_p.G440R			O14786	NRP1_HUMAN	neuropilin 1	440	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GAAATAAGTCCAGACACCATA	0.458000													12	82					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758731	77758731	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:77758731C>A	ENST00000310942.4	+	5	1593	c.1489C>A	c.(1489-1491)Cgc>Agc	p.R497S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	497					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAAGCCCACCCGCAGCCTCAT	0.622000													9	36					0.000274275	0.000299927	1	1	0
TTN	7273	broad.mit.edu	37	2	179395519	179395519	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179395519C>T	ENST00000589042.1	-	358	106047	c.105823G>A	c.(105823-105825)Gag>Aag	p.E35275K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33634K|TTN_ENST00000342175.6_Missense_Mutation_p.E26402K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32707K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26210K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26335K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33634							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACTTTCTCTGTTGGTGTT	0.468000													4	44					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147581767	147581767	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:147581767C>T	ENST00000367481.3	+	5	556	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Silent_p.L150L|STXBP5_ENST00000546097.1_Silent_p.L150L|STXBP5_ENST00000367480.3_Silent_p.L150L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	150					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTGCCATCTGCCTTTCCA	0.363000													4	74					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13015425	13015425	+	Silent	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:13015425G>A	ENST00000293695.7	-	3	205	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	63					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CTTGAGTCCAGAGAGGAGAAG	0.532000													6	133					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946569	144946569	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:144946569C>T	ENST00000525985.1	-	2	924	c.853G>A	c.(853-855)Ggc>Agc	p.G285S				P58107	EPIPL_HUMAN	epiplakin 1	285						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGCTGCCGGTACCCTCC	0.682000													5	68					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892607	166892607	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:166892607A>G	ENST00000423058.2	-	16	3397	c.3380T>C	c.(3379-3381)tTa>tCa	p.L1127S	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1099S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1116S|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1127S|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1127						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCCGTGTTTAAATTTTCAAA	0.338000													8	169					0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275566	1275566	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:1275566C>A	ENST00000316333.8	+	3	660	c.549C>A	c.(547-549)agC>agA	p.S183R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	183					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCACGTGCAGCGGCGAGCCCA	0.637000													4	20					0.00909568	0.00956777	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50234086	50234086	+	Silent	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:50234086T>A	ENST00000338821.5	-	22	2622	c.2358A>T	c.(2356-2358)ggA>ggT	p.G786G	ATP9A_ENST00000311637.5_Silent_p.G650G|ATP9A_ENST00000402822.1_Silent_p.G665G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	786					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTCATTGCCTCCGTCCCCTG	0.507000													5	36					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458039	248458039	+	Missense_Mutation	SNP	G	G	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:248458039G>C	ENST00000317996.1	-	1	841	c.842C>G	c.(841-843)cCt>cGt	p.P281R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTAGTAAAGGGGTGAACAT	0.458000													4	176					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100649223	100649223	+	Missense_Mutation	SNP	T	T	C	rs76569625		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr15:100649223T>C	ENST00000268070.4	-	14	2092	c.1987A>G	c.(1987-1989)Act>Gct	p.T663A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	663	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAGAGATCAGTCTCGTAGGGC	0.617000													25	65					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967685	16967685	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:16967685C>A	ENST00000377833.4	-	42	6425	c.6360G>T	c.(6358-6360)tgG>tgT	p.W2120C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2120	CUB 15.				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			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)	CCAGGACGTGCCAAGAACAGT	0.502000													15	64					1.67942e-08	2.13616e-08	1	1	0
PRELID2	153768	broad.mit.edu	37	5	145176111	145176111	+	Splice_Site	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:145176111C>A	ENST00000334744.4	-	6	457		c.e6-1		PRELID2_ENST00000511435.1_Splice_Site|PRELID2_ENST00000394450.2_Splice_Site|PRELID2_ENST00000505416.1_Splice_Site|PRELID2_ENST00000358004.2_Splice_Site	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2											endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTCTGTCCTGCAAAAAAA	0.368000													10	87					1.76689e-08	2.23807e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179599266	179599266	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:179599266C>A	ENST00000589042.1	-	52	15509	c.15285G>T	c.(15283-15285)caG>caT	p.Q5095H	TTN_ENST00000591111.1_Missense_Mutation_p.Q4778H|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q3851H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4778	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTTCACACTGAAGTAGAG	0.378000													14	75					3.27435e-08	4.07952e-08	1	1	0
RAI2	10742	broad.mit.edu	37	X	17820044	17820044	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:17820044C>A	ENST00000545871.1	-	3	547	c.87G>T	c.(85-87)atG>atT	p.M29I	RAI2_ENST00000415486.3_Missense_Mutation_p.M29I|RAI2_ENST00000360011.1_Missense_Mutation_p.M29I|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.M29I|RAI2_ENST00000331511.1_Missense_Mutation_p.M29I|RAI2_ENST00000451717.1_Missense_Mutation_p.M29I	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	29					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCAGCTGAGCCATGCCATTCT	0.567000													27	89					1.08312e-15	1.53864e-15	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139110934	139110934	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr9:139110934G>A	ENST00000358701.5	-	7	935	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	300					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGCTTTTCAGGCAAGGGAAGC	0.488000													21	30					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56277118	56277118	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:56277118C>A	ENST00000225371.5	+	9	1610	c.1500C>A	c.(1498-1500)agC>agA	p.S500R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	500					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCCACTTAGCTCTGCCTTCT	0.612000													3	53					0.115264	0.118379	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38764951	38764951	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:38764951G>T	ENST00000449082.2	-	18	3321	c.3322C>A	c.(3322-3324)Ctg>Atg	p.L1108M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1108					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTTCTTCCAGGTCATCTGCC	0.557000													11	38					3.07112e-06	3.66125e-06	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87694047	87694047	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:87694047C>G	ENST00000436978.1	+	32	5780	c.5300C>G	c.(5299-5301)aCt>aGt	p.T1767S	PTPN13_ENST00000511467.1_Missense_Mutation_p.T1767S|PTPN13_ENST00000427191.2_Missense_Mutation_p.T1743S|PTPN13_ENST00000316707.6_Missense_Mutation_p.T1571S|PTPN13_ENST00000411767.2_Missense_Mutation_p.T1762S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1762						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTGAACCAACTAGACAAGAA	0.373000													12	38					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770882	35770882	+	Missense_Mutation	SNP	T	T	C			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:35770882T>C	ENST00000187397.4	+	15	1769	c.1313T>C	c.(1312-1314)gTg>gCg	p.V438A	ARPP21_ENST00000417925.1_Missense_Mutation_p.V404A|ARPP21_ENST00000444190.1_Missense_Mutation_p.V384A|ARPP21_ENST00000337271.5_Missense_Mutation_p.V384A|ARPP21_ENST00000458225.1_Missense_Mutation_p.V404A	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	438						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTCTCAGGTGTGGCAGCTGGC	0.592000													17	65					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912743	77912743	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:77912743A>G	ENST00000321110.1	-	2	1470	c.1175T>C	c.(1174-1176)cTg>cCg	p.L392P		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	392							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTTCTCTTCCAGGCTGATGCA	0.493000													15	58					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462786	66462786	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:66462786C>T	ENST00000404260.3	+	29	8096	c.7788C>T	c.(7786-7788)cgC>cgT	p.R2596R	MAST4_ENST00000403666.1_Silent_p.R2404R|MAST4_ENST00000403625.2_Silent_p.R2593R|MAST4_ENST00000261569.7_Silent_p.R2399R|MAST4_ENST00000405643.1_Silent_p.R2414R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2596						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACACTGACCGCCCCATCTCTC	0.587000													3	31					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6067883	6067883	+	Missense_Mutation	SNP	C	C	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:6067883C>G	ENST00000379959.3	-	2	343	c.170G>C	c.(169-171)aGa>aCa	p.R57T	IL2RA_ENST00000379954.1_Missense_Mutation_p.R57T|IL2RA_ENST00000256876.6_Missense_Mutation_p.R57T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	57	Sushi 1.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCTTTTTATTCTGCGGAAACC	0.498000													4	82					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546079	82546079	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:82546079G>T	ENST00000423517.2	-	7	11560	c.11223C>A	c.(11221-11223)agC>agA	p.S3741R	PCLO_ENST00000333891.8_Missense_Mutation_p.S3741R|PCLO_ENST00000437081.1_Missense_Mutation_p.S461R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3672					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCATTGTGCTGAATGTGG	0.468000													9	77					0.000274275	0.000299927	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873812	91873812	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chrX:91873812C>T	ENST00000373094.1	+	7	4762	c.3917C>T	c.(3916-3918)aCc>aTc	p.T1306I	PCDH11X_ENST00000373088.1_Missense_Mutation_p.T1269I|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1298I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1288I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T1269I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1296I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1306					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTTTTACACCATGTCTGAA	0.478000													5	200					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105439010	105439010	+	Missense_Mutation	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr3:105439010C>T	ENST00000264122.4	-	10	1609	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	CBLB_ENST00000405772.1_Missense_Mutation_p.D430N|CBLB_ENST00000403724.1_Missense_Mutation_p.D430N|CBLB_ENST00000394027.3_Missense_Mutation_p.D452N|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	430					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GAGCCTTCATCTCTTGGATCA	0.483000			Mis S		AML								3	20					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150234	70150234	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:70150234G>A	ENST00000550536.1	+	3	806	c.349G>A	c.(349-351)Gga>Aga	p.G117R	RAB3IP_ENST00000483530.2_Missense_Mutation_p.G101R|RAB3IP_ENST00000378815.6_Missense_Mutation_p.G101R|RAB3IP_ENST00000362025.5_Missense_Mutation_p.G117R|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.G101R	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	117					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTCACAGCTGGATTAACTAA	0.408000													17	284					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2398821	2398821	+	Silent	SNP	C	C	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:2398821C>T	ENST00000263645.5	+	1	298	c.42C>T	c.(40-42)ctC>ctT	p.L14L	AC129929.5_ENST00000413483.1_RNA	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	14					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTACCTGCTCTTCGTCTTCA	0.741000													9	29					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918520	11918520	+	Missense_Mutation	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:11918520G>A	ENST00000376468.3	-	2	236	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	47			R -> H (in dbSNP:rs5229).		body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	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;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)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	AAATGGTTGCGCTGCTCCTGC	0.637000													7	17					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233651927	233651927	+	Missense_Mutation	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:233651927A>T	ENST00000373566.3	+	10	863	c.666A>T	c.(664-666)gaA>gaT	p.E222D	GIGYF2_ENST00000409196.3_Missense_Mutation_p.E200D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E200D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E222D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E200D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E31D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E222D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	200	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACGCTCAGAAAGTGAAAATT	0.423000													25	50					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914937	32914937	+	Missense_Mutation	SNP	A	A	G	rs80359592		TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr13:32914937A>G	ENST00000544455.1	+	11	6672	c.6445A>G	c.(6445-6447)Att>Gtt	p.I2149V	BRCA2_ENST00000380152.3_Missense_Mutation_p.I2149V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2149					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCACTCTATTAAAGTTTC	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	24					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421043	11421043	+	RNA	SNP	G	G	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr12:11421043G>A	ENST00000381842.3	-	0	177				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGTACGTTGGGGCTGGTTTCC	0.572000													16	220					0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51887198	51887198	+	Missense_Mutation	SNP	T	T	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr18:51887198T>A	ENST00000300091.5	+	2	588	c.256T>A	c.(256-258)Tgc>Agc	p.C86S	C18orf54_ENST00000382911.4_Missense_Mutation_p.C86S|C18orf54_ENST00000578138.1_Intron	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	86						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GTCACAGTTCTGCAACTATAT	0.323000													11	100					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216160	20216160	+	Missense_Mutation	SNP	G	G	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr14:20216160G>T	ENST00000331723.1	+	1	574	c.574G>T	c.(574-576)Gac>Tac	p.D192Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTGCATGGACACCTATGT	0.488000													8	102					3.09899e-07	3.7835e-07	1	1	0
DNAJC7	7266	broad.mit.edu	37	17	40139846	40139846	+	Missense_Mutation	SNP	C	C	A			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr17:40139846C>A	ENST00000457167.4	-	9	1237	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	DNAJC7_ENST00000426588.3_Missense_Mutation_p.R278I|DNAJC7_ENST00000316603.7_Missense_Mutation_p.R278I	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	334					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CCACTGAGCTCTTCTCAAGTA	0.493000													3	14					0.00909568	0.00956777	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7981425	7981425	+	Silent	SNP	A	A	T			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:7981425A>T	ENST00000328600.2	-	2	1895	c.1734T>A	c.(1732-1734)ggT>ggA	p.G578G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	578							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATCTGAATACCTTTTACCA	0.343000													8	33					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86645175	86645175	+	Missense_Mutation	SNP	A	A	G			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:86645175A>G	ENST00000456692.2	+	8	831	c.716A>G	c.(715-717)tAt>tGt	p.Y239C	RASA1_ENST00000506290.1_Missense_Mutation_p.Y250C|RASA1_ENST00000274376.6_Missense_Mutation_p.Y416C|RASA1_ENST00000512763.1_Missense_Mutation_p.Y249C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	416	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GGCCGGTATTATAACAGGTAA	0.303000													3	68					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													7	120	---	---	---	---					
FAM228A	653140	broad.mit.edu	37	2	24413459	24413461	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr2:24413459_24413461delCTT	ENST00000295150.3	+	6	666_668	c.580_582delCTT	c.(580-582)del	p.L194del		NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		GCATGCAGGGCTTTGCAGCACCC	0.601													19	41	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													17	234	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	AT	rs59536241	by1000genomes	TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:68632418_68632419insAT	ENST00000500538.2	+	0	1905				RP11-453E17.1_ENST00000502758.1_RNA																							cacacacacacaTATATATAct	0.431													3	3	---	---	---	---					
NAAA	27163	broad.mit.edu	37	4	76862042	76862043	+	In_Frame_Ins	INS	-	-	CAG			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr4:76862042_76862043insCAG	ENST00000286733.4	-	1	161_162	c.60_61insCTG	c.(58-63)ctccgg>ctCTGccgg	p.20_21LR>LCR	NAAA_ENST00000507956.1_In_Frame_Ins_p.20_21LR>LCR|NAAA_ENST00000507187.2_In_Frame_Ins_p.20_21LR>LCR|NAAA_ENST00000399497.3_In_Frame_Ins_p.20_21LR>LCR	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	20					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CCGGCCCCGGCCAGCAGCAGCA	0.762													4	2	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35954457	35954457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr5:35954457delG	ENST00000274278.3	-	7	1776	c.1419delC	c.(1417-1419)ccfs	p.P473fs		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	473						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGGCATAGGGCTTGAGGT	0.602													13	48	---	---	---	---					
T	6862	broad.mit.edu	37	6	166578310	166578310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr6:166578310delC	ENST00000296946.2	-	5	1114	c.646delG	c.(646-648)ctfs	p.A216fs	T_ENST00000366871.3_Frame_Shift_Del_p.A216fs	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	216					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TCAAGGAAAGCTTTTGCAAAT	0.338									Chordoma, Familial Clustering of				9	42	---	---	---	---					
MNX1	3110	broad.mit.edu	37	7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gct>gc	p.AA172del		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803													2	4	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)agfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													7	323	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428													7	694	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													12	287	---	---	---	---					
TEAD1	7003	broad.mit.edu	37	11	12903493	12903493	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:12903493delC	ENST00000361905.4	+	8	1183	c.518delC	c.(517-519)gcfs	p.A173fs	TEAD1_ENST00000526600.1_Frame_Shift_Del_p.A92fs|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000527575.1_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000334310.6_Frame_Shift_Del_p.A177fs	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	188	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCGGTCACAGCCCCCATTCCA	0.567													15	136	---	---	---	---					
KDM4D	55693	broad.mit.edu	37	11	94731161	94731161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr11:94731161delC	ENST00000335080.5	+	3	1457	c.625delC	c.(625-627)ccfs	p.P209fs	KDM4D_ENST00000536741.1_Frame_Shift_Del_p.P209fs	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	209	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTTGGGGAGCCCAAAACTTG	0.562													23	98	---	---	---	---					
NLRP2	55655	broad.mit.edu	37	19	55493982	55493982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr19:55493982delG	ENST00000543010.1	+	6	1059	c.916delG	c.(916-918)ggfs	p.G306fs	NLRP2_ENST00000339757.7_Frame_Shift_Del_p.G284fs|NLRP2_ENST00000391721.4_Frame_Shift_Del_p.G282fs|NLRP2_ENST00000427260.2_Frame_Shift_Del_p.G283fs|NLRP2_ENST00000263437.6_Frame_Shift_Del_p.G303fs|NLRP2_ENST00000538819.1_Frame_Shift_Del_p.G282fs|NLRP2_ENST00000537859.1_Frame_Shift_Del_p.G284fs|NLRP2_ENST00000448584.2_Frame_Shift_Del_p.G306fs	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	306	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGACATCTGCGGGGACTGGGA	0.607													26	41	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-91-7771-01A-11D-2167-08	TCGA-91-7771-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	969b8cc9-2632-4be2-9358-681312a36c34	36de470c-ab00-4a9b-8ce8-c3751ef9278e	g.chr20:62839333_62839335delGAG	ENST00000536311.1	+	7	1148_1150	c.784_786delGAG	c.(784-786)del	p.E273del	MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	273	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggacgaggaggaggagg	0.596													8	30	---	---	---	---					
