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
GCK	2645	broad.mit.edu	37	7	44187355	44187355	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:44187355C>T	ENST00000403799.3	-	7	1226	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	GCK_ENST00000395796.3_Missense_Mutation_p.V252I|GCK_ENST00000345378.2_Missense_Mutation_p.V254I|GCK_ENST00000437084.1_Missense_Mutation_p.V236I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	253					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCGGTATTGACGCACATGCGG	0.652000													21	69					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147480072	147480072	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:147480072G>C	ENST00000359874.3	+	13	1221	c.1148G>C	c.(1147-1149)aGa>aCa	p.R383T	SPINK5_ENST00000256084.7_Missense_Mutation_p.R383T|SPINK5_ENST00000398454.1_Missense_Mutation_p.R383T|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	383	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGCACCAGAGAGAACGAT	0.488000													23	27					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361403	62361403	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:62361403G>C	ENST00000278823.2	-	18	2340	c.1951C>G	c.(1951-1953)Cta>Gta	p.L651V	MTA2_ENST00000524902.1_Missense_Mutation_p.L478V|MTA2_ENST00000527204.1_Missense_Mutation_p.L478V	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	651					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTGCAGGTAGAGGGACAGGG	0.612000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	1					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779528	52779528	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:52779528G>C	ENST00000334635.5	+	10	973	c.793G>C	c.(793-795)Gac>Cac	p.D265H	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.D205H|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.D309H|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.D230H	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	265	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AATTAATCTTGACCTCAGCAA	0.378000													14	39					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230583	110230583	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:110230583G>C	ENST00000418703.2	-	10	1792	c.1698C>G	c.(1696-1698)ctC>ctG	p.L566L	TRPV4_ENST00000537083.1_Silent_p.L506L|TRPV4_ENST00000536838.1_Silent_p.L532L|TRPV4_ENST00000346520.2_Silent_p.L506L|TRPV4_ENST00000544971.1_Silent_p.L459L|TRPV4_ENST00000541794.1_Silent_p.L519L|TRPV4_ENST00000392719.2_Silent_p.L519L|TRPV4_ENST00000261740.2_Silent_p.L566L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	566					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTGCCAGGTAGAGGGCTGCTG	0.597000													17	25					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99426856	99426856	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:99426856G>C	ENST00000370631.3	+	8	1314	c.1257G>C	c.(1255-1257)caG>caC	p.Q419H	PI4K2A_ENST00000370649.3_Missense_Mutation_p.Q389H|PI4K2A_ENST00000555577.1_Missense_Mutation_p.Q389H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	419	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TCCATAAGCAGATTGCTGTCA	0.502000													54	37					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70845283	70845283	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:70845283A>G	ENST00000358731.4	+	34	7108	c.6845A>G	c.(6844-6846)gAt>gGt	p.D2282G	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2282					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATGGAGAAGATGAACAAGCC	0.353000													9	14					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994657	144994657	+	Silent	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:144994657G>T	ENST00000369359.4	-	4	524	c.486C>A	c.(484-486)cgC>cgA	p.R162R	PDE4DIP_ENST00000369354.3_Silent_p.R25R|PDE4DIP_ENST00000369349.3_Silent_p.R25R|PDE4DIP_ENST00000369348.3_Silent_p.R162R|PDE4DIP_ENST00000530740.1_Silent_p.R162R|PDE4DIP_ENST00000369347.4_Silent_p.R25R|PDE4DIP_ENST00000369351.3_Silent_p.R25R|PDE4DIP_ENST00000369356.4_Silent_p.R25R|PDE4DIP_ENST00000313382.9_Silent_p.R91R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	25					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R25R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGTAGATGCGCAGCTTGA	0.582000			T	PDGFRB	MPD								18	121					1.99824e-07	2.08076e-07	1	1	0
EXOSC8	11340	broad.mit.edu	37	13	37580265	37580265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:37580265C>T	ENST00000389704.3	+	7	623	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		ACAGATAATTCAGAAAGAGGA	0.313000													15	66					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110386639	110386639	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:110386639C>G	ENST00000547815.1	-	15	1476	c.1405G>C	c.(1405-1407)Gat>Cat	p.D469H	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000355312.3_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000320063.9_Missense_Mutation_p.D419H|GIT2_ENST00000360185.4_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000551209.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000553118.1_Intron	NM_139201.2	NP_631940.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	0					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TAATTAGCATCTTTTCCAAGC	0.294000													23	34					0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619479	57619479	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:57619479G>C	ENST00000349394.5	+	2	1051	c.876G>C	c.(874-876)caG>caC	p.Q292H		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	292	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						AACTGGTGCAGAAGGTGTGCC	0.577000													42	51					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385463	7385463	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:7385463G>A	ENST00000412468.2	+	2	275	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	54	DUF6 1.					integral to membrane											TGCTGGCTTCGTGGGCCCCCT	0.647000													4	107					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39751077	39751077	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:39751077G>C	ENST00000395670.3	-	9	1797	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIF21A_ENST00000361418.5_Missense_Mutation_p.Q460E|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q460E|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q460E|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q460E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	460					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTTGGCCTGATCACTAACA	0.438000													25	31					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70590928	70590928	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:70590928T>A	ENST00000302516.5	+	15	2217	c.2006T>A	c.(2005-2007)cTa>cAa	p.L669Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	669					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AATATTGGGCTACAGGTAAGA	0.498000													37	19					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190875	39190875	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:39190875C>G	ENST00000344363.5	-	1	232	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	77			Missing (in allele KAP1.9).	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1).		extracellular region|keratin filament	structural constituent of epidermis	p.E67Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.617000													71	25					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111542361	111542361	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:111542361C>T	ENST00000354925.2	-	6	2054	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	PITX2_ENST00000355080.5_Missense_Mutation_p.E71K|PITX2_ENST00000306732.3_Missense_Mutation_p.E124K|PITX2_ENST00000394598.2_Missense_Mutation_p.E117K|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Missense_Mutation_p.E124K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	117					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E124Q(1)|p.E117Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ACAGCGATTTCTTCGCGTGTG	0.627000													11	27					0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23399216	23399216	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:23399216C>G	ENST00000376510.3	+	3	368	c.265C>G	c.(265-267)Cat>Gat	p.H89D		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	89					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AGGAATGTATCATTGCGTGTG	0.423000													19	2					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360222	1360222	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:1360222G>A	ENST00000311401.5	+	5	484	c.98G>A	c.(97-99)gGc>gAc	p.G33D	MUM1_ENST00000344663.3_Missense_Mutation_p.G102D|MUM1_ENST00000415183.3_Missense_Mutation_p.G102D|MUM1_ENST00000591806.1_Missense_Mutation_p.G102D			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	101					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCGAGGGCTCGATTTGG	0.597000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	51					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26724654	26724654	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:26724654C>G	ENST00000272371.2	-	8	859	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	OTOF_ENST00000403946.3_Missense_Mutation_p.E245Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	245	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACTTGGCTCCATCTTAATG	0.557000													28	45					0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30595904	30595904	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:30595904C>G	ENST00000376483.4	+	5	427	c.417C>G	c.(415-417)ctC>ctG	p.L139L	ATAT1_ENST00000330083.5_Silent_p.L127L|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000329992.8_Silent_p.L139L|ATAT1_ENST00000318999.7_Silent_p.L139L|ATAT1_ENST00000376478.2_Silent_p.L139L|ATAT1_ENST00000376485.4_Silent_p.L139L|ATAT1_ENST00000319027.5_Silent_p.L139L			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	139							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GGCGAGAACTCTTCCAGTATA	0.522000													20	23					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108121544	108121544	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:108121544G>A	ENST00000278616.4	+	10	1737	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H	ATM_ENST00000452508.2_Missense_Mutation_p.R451H	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	451					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CATGGGGAACGTACACCATAT	0.408000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	90					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75130680	75130680	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:75130680C>G	ENST00000356357.4	-	19	2806	c.2291G>C	c.(2290-2292)gGa>gCa	p.G764A	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GGCAAAGCCTCCAGGTGGTAG	0.562000													95	41					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69970181	69970181	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:69970181C>G	ENST00000358913.5	+	20	4420	c.3932C>G	c.(3931-3933)tCt>tGt	p.S1311C	MYPN_ENST00000354393.2_Missense_Mutation_p.S1036C|MYPN_ENST00000540630.1_Missense_Mutation_p.S1311C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1311	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCATGCTCTTCTCGGAGTGTA	0.493000													40	83					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106500	14106500	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:14106500C>T	ENST00000235372.7	+	8	3066	c.2210C>T	c.(2209-2211)aCc>aTc	p.T737I	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.T536I|PRDM2_ENST00000413440.1_Missense_Mutation_p.T536I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.T737I|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	737						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAGAGGCGGACCAGCTCTCCT	0.522000													46	75					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379086	32379086	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:32379086G>A	ENST00000375200.1	+	15	2693	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.L769L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGGAGGAGCTGAAGGACACAG	0.736000													19	49					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613705	3613705	+	RNA	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:3613705C>T	ENST00000301749.7	-	0	1638				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACACGTATTTCTTCTTGAGCA	0.597000													15	10					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23708867	23708867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:23708867C>A	ENST00000290271.2	-	3	722	c.439G>T	c.(439-441)Gag>Tag	p.E147*	STC1_ENST00000524323.1_Nonsense_Mutation_p.E78*	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	147					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGACGACCTCAGTGATGGCT	0.542000													63	88					2.84776e-26	3.1913e-26	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123848195	123848195	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:123848195G>A	ENST00000531945.1	-	1	293	c.204C>T	c.(202-204)ctC>ctT	p.L68L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGTAAGCTGAGGTGAGAGT	0.542000													14	11					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070524	106070524	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:106070524G>C	ENST00000357242.5	+	7	1334	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.R387T|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R387T|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.R387T	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	387						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCAGGCTCAGATGCGGAGCA	0.368000													109	3					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453055	195453055	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:195453055G>T	ENST00000320736.6	+	3	1194	c.1068G>T	c.(1066-1068)agG>agT	p.R356S	MUC20_ENST00000436408.1_Missense_Mutation_p.R527S|MUC20_ENST00000447234.2_Missense_Mutation_p.R527S|MUC20_ENST00000445522.2_Missense_Mutation_p.R492S			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	527	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGTTAGCAGGAATCCCCTTG	0.582000													8	87					0.000274275	0.000279824	1	1	0
ESRP2	80004	broad.mit.edu	37	16	68265592	68265592	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:68265592C>G	ENST00000473183.2	-	11	1843	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F	ESRP2_ENST00000565858.1_Missense_Mutation_p.L445F			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	445	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CATAGCGGTTCAAGACCTAGT	0.622000													13	14					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015820	41015820	+	Silent	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:41015820A>G	ENST00000295974.8	-	6	1244	c.615T>C	c.(613-615)gaT>gaC	p.D205D	APBB2_ENST00000513140.1_Silent_p.D205D|APBB2_ENST00000506352.1_Silent_p.D205D|APBB2_ENST00000508593.1_Silent_p.D205D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	205					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCAGCAGCAAATCGCCATTCC	0.552000													90	268					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559550	140559550	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:140559550C>G	ENST00000239444.2	+	1	2180	c.1935C>G	c.(1933-1935)gtC>gtG	p.V645V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		645	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGTCAAGGACAATG	0.701000													30	35					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5.				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)				CTTGGGGCTCGTCTCTGTCCA	0.587000													42	20					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44938447	44938447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:44938447G>T	ENST00000377967.4	+	20	3036	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E954*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E920*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1006*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	999					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.E999*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACATATGGTAGAAGTGAGGAC	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								49	2					7.34454e-26	8.15291e-26	1	1	0
INTS7	25896	broad.mit.edu	37	1	212180757	212180757	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:212180757C>A	ENST00000366994.3	-	6	695	c.591G>T	c.(589-591)ttG>ttT	p.L197F	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.L197F|INTS7_ENST00000366992.3_Missense_Mutation_p.L197F|INTS7_ENST00000440600.2_Missense_Mutation_p.L148F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	197					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAATGGGTATCAATTTTAGCT	0.398000													12	56					6.40141e-05	6.54985e-05	1	1	0
FNDC8	54752	broad.mit.edu	37	17	33454292	33454292	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:33454292G>A	ENST00000158009.5	+	2	556	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	147										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CGAAGTCCCAGATGGCCACAA	0.582000													52	165					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156287319	156287319	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:156287319C>T	ENST00000295688.3	-	9	1059	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	CCT3_ENST00000368261.3_Missense_Mutation_p.R215Q|CCT3_ENST00000368259.2_Missense_Mutation_p.R222Q|CCT3_ENST00000472765.2_Missense_Mutation_p.R215Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	260					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTCCTCCTCTCGTGTAATCTC	0.458000													44	145					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88472968	88472968	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:88472968C>G	ENST00000552810.1	-	39	5608	c.5265G>C	c.(5263-5265)atG>atC	p.M1755I	CEP290_ENST00000397838.3_Missense_Mutation_p.M815I|CEP290_ENST00000547691.2_Missense_Mutation_p.M815I|CEP290_ENST00000309041.7_Missense_Mutation_p.M1757I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1755					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CAGCTGCTGTCATTTCTGCCC	0.353000													31	21					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172535678	172535678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:172535678C>A	ENST00000540014.1	+	5	1593	c.1274C>A	c.(1273-1275)tCa>tAa	p.S425*	CREBRF_ENST00000296953.2_Nonsense_Mutation_p.S425*			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	425							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TCAATATCTTCACGGAAGAGA	0.393000													16	15					9.16793e-09	9.63178e-09	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152510474	152510474	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:152510474G>C	ENST00000367255.5	-	128	23815	c.23214C>G	c.(23212-23214)ctC>ctG	p.L7738L	SYNE1_ENST00000423061.1_Silent_p.L7667L|SYNE1_ENST00000356820.4_Silent_p.L2262L|SYNE1_ENST00000341594.5_Silent_p.L7350L|SYNE1_ENST00000448038.1_Silent_p.L7667L|SYNE1_ENST00000265368.4_Silent_p.L7738L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7738					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATAGGCAGAGAGGGTGTCCT	0.443000										HNSCC(10;0.0054)			20	75					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276918	95276918	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:95276918G>A	ENST00000371485.3	+	6	1210	c.906G>A	c.(904-906)gaG>gaA	p.E302E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	302					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATAAAACAGAGAAGATACAAA	0.373000													23	55					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54967206	54967206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:54967206C>T	ENST00000243052.3	+	9	1340	c.904C>T	c.(904-906)Cga>Tga	p.R302*	PDE1B_ENST00000550620.1_Nonsense_Mutation_p.R282*|PDE1B_ENST00000538346.1_Nonsense_Mutation_p.R261*|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	302	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTCTGTTTTCCGATTGATGCA	0.468000													62	63					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438430	114438430	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:114438430C>A	ENST00000369569.1	-	9	2021	c.1741G>T	c.(1741-1743)Gca>Tca	p.A581S	AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.A581S|AP4B1_ENST00000369567.1_Missense_Mutation_p.A413S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	581					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACGCTCTGCCCCCTGGCAT	0.473000													15	67					3.57192e-18	3.84417e-18	1	1	0
RFX2	5990	broad.mit.edu	37	19	5994940	5994940	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:5994940C>T	ENST00000303657.5	-	18	2227	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.R693H|RFX2_ENST00000592546.1_Missense_Mutation_p.R668H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCGCTGCCACGCTGCTCATC	0.657000													8	32					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74733166	74733166	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:74733166G>T	ENST00000392485.2	-	1	249	c.77C>A	c.(76-78)tCg>tAg	p.S26*	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.S26*|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.S26*|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	26	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CGTGTCGGGCGAGGTGCGGTA	0.677000			Mis		"""MDS, CLL"""								7	23					1.06961e-07	1.11708e-07	1	1	0
CDH24	64403	broad.mit.edu	37	14	23522883	23522883	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:23522883G>A	ENST00000397359.3	-	7	1307	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	CDH24_ENST00000554034.1_Silent_p.L350L|CDH24_ENST00000487137.2_Silent_p.L350L|CDH24_ENST00000267383.5_Silent_p.L350L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	350	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCGCCGCAGATAGGCTGGG	0.607000													19	29					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217012	1217012	+	Silent	SNP	C	C	T	rs145782869		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:1217012C>T	ENST00000304460.10	+	8	1181	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	375					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Y375Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGCGGCCTACGCGCAGCTGG	0.632000													33	364					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89034111	89034111	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:89034111C>G	ENST00000283646.4	+	5	560	c.505C>G	c.(505-507)Ctc>Gtc	p.L169V		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	169					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGATGCTGATCTCAATCTCAT	0.463000													39	67					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256392	63256392	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:63256392G>C	ENST00000323865.3	-	1	1388	c.1155C>G	c.(1153-1155)atC>atG	p.I385M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	385					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCAGCCAATTGATTATGGCGC	0.502000													83	84					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161512447	161512447	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:161512447G>T	ENST00000392142.4	+	12	3158	c.3010G>T	c.(3010-3012)Gcc>Tcc	p.A1004S	MAP3K4_ENST00000366919.2_Missense_Mutation_p.A1004S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A1004S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1004S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1004					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GATAAGCAATGCCATTGACCG	0.398000													34	104					1.03484e-13	1.10029e-13	1	1	0
WDR45B	56270	broad.mit.edu	37	17	80606167	80606167	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:80606167C>A	ENST00000392325.4	-	1	244	c.50G>T	c.(49-51)gGc>gTc	p.G17V		NM_019613.3	NP_062559.2			WD repeat domain 45B																		CTGGTTGAAGCCGGCGTAGAG	0.731000													34	17					9.17885e-22	1.00939e-21	1	1	0
RNF31	55072	broad.mit.edu	37	14	24619440	24619440	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:24619440G>A	ENST00000324103.6	+	7	1300	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	RNF31_ENST00000559275.1_Missense_Mutation_p.R176Q|RNF31_ENST00000382687.3_Missense_Mutation_p.R176Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607000													43	31					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901257	4901257	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:4901257C>A	ENST00000404991.1	-	1	368	c.182G>T	c.(181-183)aGg>aTg	p.R61M	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	61					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AACTAAAATCCTGCGCTGCAG	0.478000													20	24					4.54149e-19	4.91762e-19	1	1	0
TNNT1	7138	broad.mit.edu	37	19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:55653236C>T	ENST00000588981.1	-	7	385	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	61					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602000													115	84					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62025998	62025998	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:62025998G>A	ENST00000578147.1	-	16	3193	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	SCN4A_ENST00000435607.1_Silent_p.F1039F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1039					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGATCATGAAGACAATGA	0.622000													32	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237755088	237755088	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:237755088A>T	ENST00000366574.2	+	32	4527	c.4210A>T	c.(4210-4212)Aga>Tga	p.R1404*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R1402*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R1388*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1404	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTCTGCAAGACTCACCGA	0.388000													10	19					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821357	151821357	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:151821357G>C	ENST00000370306.2	+	9	1532	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	504						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAGCTTGAGCTCGGATG	0.547000													39	4					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317573	31317573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:31317573C>G	ENST00000265071.2	+	10	1869	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.S480*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCAGTGGCTCAAACTTTACC	0.403000													325	56					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943357	49943357	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:49943357C>T	ENST00000257981.6	+	9	1862	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	534					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAAGCCCCTCAAGCAGCGCA	0.657000													34	26					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195316	19195316	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:19195316C>T	ENST00000562034.1	+	3	4413	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SYT17_ENST00000355377.2_Silent_p.F266F|SYT17_ENST00000568115.1_Silent_p.F205F|SYT17_ENST00000562711.2_Silent_p.F262F			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	266	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGATCCCCTTCCTGGAGGCCC	0.552000													52	89					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051481	73051481	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:73051481C>T	ENST00000335350.6	+	10	2003	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	UNC5B_ENST00000373192.4_Silent_p.L518L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	529					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCGCCAGCCTCGGTTCCCAGC	0.687000													11	26					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256710	32256710	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:32256710G>C	ENST00000360482.2	-	16	3274	c.3145C>G	c.(3145-3147)Cag>Gag	p.Q1049E	SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q1036E|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.Q529E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1049					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCATCTGGCTGATAGTATCTC	0.602000													40	50					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23857244	23857244	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:23857244C>T	ENST00000361729.2	-	1	468	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	14					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTTCGGGGTCTGCCCAGCGG	0.692000													5	8					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33267148	33267148	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:33267148C>G	ENST00000269195.5	+	5	961	c.858C>G	c.(856-858)gtC>gtG	p.V286V	GALNT1_ENST00000537549.1_Silent_p.V226V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	286	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CTCTTCCTGTCAGGTAATTAA	0.408000													54	41					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25325802	25325802	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:25325802G>A	ENST00000330560.3	+	6	1085	c.608G>A	c.(607-609)aGa>aAa	p.R203K	CDCA2_ENST00000380665.3_Missense_Mutation_p.R188K	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	203					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAACGTCGGAGAATATCCTAT	0.433000													39	41					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160663529	160663529	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:160663529C>G	ENST00000263636.4	-	34	4972	c.4945G>C	c.(4945-4947)Gaa>Caa	p.E1649Q	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1649Q|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Missense_Mutation_p.E1649Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTTCACATTCAACTTTTTTC	0.378000													43	49					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140705990	140705990	+	Silent	SNP	C	C	T	rs146497113		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr9:140705990C>T	ENST00000460843.1	+	19	2817	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	930					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGCCAAGTGCGACCTCCACG	0.622000													3	32					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32015752	32015752	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:32015752C>G	ENST00000375244.3	-	30	10284	c.10083G>C	c.(10081-10083)ctG>ctC	p.L3361L	TNXB_ENST00000375247.2_Silent_p.L3359L			P22105	TENX_HUMAN	tenascin XB	3406	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCACAGTCAGCTCCCCCA	0.612000													57	53					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35448986	35448986	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:35448986C>T	ENST00000404801.1	-	4	2159	c.1773G>A	c.(1771-1773)gaG>gaA	p.E591E	ZNF792_ENST00000605484.1_Silent_p.E524E	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGCACATTCTCCATGCTCC	0.483000													15	26					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896267	52896267	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:52896267C>T	ENST00000354452.3	-	18	2301	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	TCF4_ENST00000566286.1_Missense_Mutation_p.E557K|TCF4_ENST00000568740.1_Missense_Mutation_p.E535K|TCF4_ENST00000570287.2_Missense_Mutation_p.E400K|TCF4_ENST00000570177.2_Missense_Mutation_p.E430K|TCF4_ENST00000544241.2_Missense_Mutation_p.E493K|TCF4_ENST00000537856.3_Missense_Mutation_p.E430K|TCF4_ENST00000564999.1_Missense_Mutation_p.E560K|TCF4_ENST00000564403.2_Missense_Mutation_p.E570K|TCF4_ENST00000561831.3_Missense_Mutation_p.E400K|TCF4_ENST00000567880.1_Missense_Mutation_p.E500K|TCF4_ENST00000564228.1_Missense_Mutation_p.E489K|TCF4_ENST00000568673.1_Missense_Mutation_p.E540K|TCF4_ENST00000540999.1_Missense_Mutation_p.E536K|TCF4_ENST00000566279.1_Missense_Mutation_p.E504K|TCF4_ENST00000537578.1_Missense_Mutation_p.E540K|TCF4_ENST00000457482.3_Missense_Mutation_p.E404K|TCF4_ENST00000543082.1_Missense_Mutation_p.E518K|TCF4_ENST00000398339.1_Missense_Mutation_p.E666K|TCF4_ENST00000565018.2_Missense_Mutation_p.E564K|TCF4_ENST00000561992.1_Missense_Mutation_p.E430K|TCF4_ENST00000356073.4_Missense_Mutation_p.E560K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	560					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTCTCACGCTCTGCCTTCTGC	0.537000													74	81					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223989881	223989881	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:223989881C>T	ENST00000391878.2	-	10	1543	c.775G>A	c.(775-777)Gag>Aag	p.E259K	TP53BP2_ENST00000343537.7_Missense_Mutation_p.E388K|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	382					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATCGGCCCCTCTGAAGCCTGA	0.527000													57	51					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471208	77471208	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:77471208C>G	ENST00000560626.2	-	4	3536	c.3061G>C	c.(3061-3063)Gag>Cag	p.E1021Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1021Q|PEAK1_ENST00000558305.1_Missense_Mutation_p.E1021Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1021					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E1021Q(2)|p.E1021*(2)									AATGCATTCTCTGCTCTACCC	0.468000													40	31					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134014198	134014198	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:134014198C>T	ENST00000299106.4	+	4	478	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R152W|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	107	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GAATGTGACACGGAGAGACTC	0.473000													20	55					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063528	69063528	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:69063528G>C	ENST00000535407.1	+	2	1080	c.437G>C	c.(436-438)cGc>cCc	p.R146P	MYEOV_ENST00000441339.2_Missense_Mutation_p.R204P|MYEOV_ENST00000308946.3_Missense_Mutation_p.R204P			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	204										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGCTCTGCGCTCACCTGGG	0.617000													187	49					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349110	243349110	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:243349110C>T	ENST00000366542.1	-	10	1588	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	513						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCTTCCACTTCCTCACTGTTG	0.353000													53	72					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892858	56892858	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:56892858G>C	ENST00000256857.2	+	2	372	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	GRP_ENST00000529320.2_Missense_Mutation_p.E92Q|GRP_ENST00000420468.2_Missense_Mutation_p.E92Q	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	92					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				AGAAGCAAAGGAGAACAGAAA	0.502000													48	59					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936725	150936725	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:150936725C>T	ENST00000392811.2	-	12	1716	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	SMARCD3_ENST00000262188.8_Silent_p.Q427Q|SMARCD3_ENST00000356800.2_Silent_p.Q414Q	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	427					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCCCGGCTCTGGGAGCGGA	0.542000													71	70					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892801	56892801	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:56892801G>C	ENST00000256857.2	+	2	315	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	GRP_ENST00000529320.2_Missense_Mutation_p.E73Q|GRP_ENST00000420468.2_Missense_Mutation_p.E73Q	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	73					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCAGCTGAGAGAGTACATCAG	0.488000													55	50					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513063	195513063	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:195513063G>A	ENST00000463781.3	-	2	5847	c.5388C>T	c.(5386-5388)acC>acT	p.T1796T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T1796T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	575					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAACGTCGGTGACAGGAA	0.592000													4	10					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28770986	28770986	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:28770986G>A	ENST00000225719.4	+	11	2616	c.2540G>A	c.(2539-2541)cGa>cAa	p.R847Q	CPD_ENST00000543464.2_Missense_Mutation_p.R600Q	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	847	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCATCTGCTCGAGGGTGAGTG	0.433000													107	31					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74921349	74921349	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:74921349G>A	ENST00000395066.3	+	12	2177	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	CLK3_ENST00000345005.4_Silent_p.V424V|CLK3_ENST00000352989.5_Silent_p.V401V|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	572	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCGGTATGTGAAGGAGAACT	0.522000													45	38					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28418927	28418927	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:28418927C>G	ENST00000394835.3	+	21	4168	c.3976C>G	c.(3976-3978)Ctc>Gtc	p.L1326V	EFCAB5_ENST00000320856.5_Missense_Mutation_p.L1202V|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1326							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGGAATTCTCTTCTTCCG	0.418000													14	46					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801326	3801326	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:3801326C>T	ENST00000225538.3	-	11	1385	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	371					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATGTCCTCAGCGTATTTGAAC	0.622000													82	4					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10747419	10747419	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:10747419G>A	ENST00000345985.3	-	13	1005	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	NOL10_ENST00000538384.1_Missense_Mutation_p.R323W|NOL10_ENST00000381685.5_Missense_Mutation_p.R349W|NOL10_ENST00000542668.1_Missense_Mutation_p.R299W	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	349						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GAACACCACCGAGGAGCAGGA	0.408000													10	16					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390205	52390205	+	RNA	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:52390205G>A	ENST00000443374.2	+	0	1394																											TAGTACACTTGACGACAGGCT	0.383000													16	7					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14978247	14978247	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:14978247G>A	ENST00000287667.7	+	27	3301	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1044						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAATGACATCGATGATGTAAA	0.418000													66	41					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399351	107399351	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:107399351C>A	ENST00000440859.3	+	6	1671	c.1204C>A	c.(1204-1206)Cct>Act	p.P402T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P401T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TATGAATCATCCTCCTCCAGG	0.512000													79	97					6.0678e-26	6.75688e-26	1	1	0
FURIN	5045	broad.mit.edu	37	15	91424800	91424800	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:91424800C>T	ENST00000268171.3	+	16	2356	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	693	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCAGCCACCTCGGCTGCCCCC	0.711000													14	21					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94114838	94114838	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:94114838C>T	ENST00000515393.1	-	19	2586	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MCTP1_ENST00000505078.1_Missense_Mutation_p.E379K|MCTP1_ENST00000429576.2_Missense_Mutation_p.E556K|MCTP1_ENST00000312216.8_Missense_Mutation_p.E642K|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	863					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCATCTTCTTCTTCCTCGTCC	0.418000													14	21					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116937844	116937844	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:116937844G>C	ENST00000537345.1	+	13	2136	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	ATP1A1_ENST00000369496.4_Missense_Mutation_p.M560I|ATP1A1_ENST00000295598.5_Missense_Mutation_p.M591I	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	591					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCATCTCCATGATTGACCCTC	0.507000													64	79					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135122951	135122951	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:135122951G>A	ENST00000359035.3	+	2	214	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	ZNF511_ENST00000361518.5_Missense_Mutation_p.V71M|ZNF511_ENST00000368554.4_Missense_Mutation_p.V6M|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGTGGCCGACGTGCCTGAGAA	0.682000													8	11					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586817	37586817	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:37586817C>G	ENST00000338415.3	+	3	520	c.362C>G	c.(361-363)tCa>tGa	p.S121*	QPCT_ENST00000537448.1_Nonsense_Mutation_p.S72*	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	121					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGTCTTTCTCAAATATCATC	0.478000													75	46					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871351	51871351	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:51871351G>C	ENST00000371497.5	+	2	2241	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D449H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D449H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	452					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGCATCAGATTGTACAGC	0.463000													83	132					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121220554	121220554	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:121220554C>A	ENST00000297848.3	+	11	1545	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	COL14A1_ENST00000537875.1_Silent_p.I425I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.I425I|COL14A1_ENST00000247781.3_Silent_p.I330I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	425	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTTTGCAATCTATGCCCACA	0.413000													33	47					4.74835e-14	5.06395e-14	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50945442	50945442	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:50945442C>T	ENST00000357701.5	+	9	825	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	258	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTTCAGCATTCACAAAGAAGC	0.557000													7	7					0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40480226	40480226	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:40480226G>C	ENST00000157812.2	+	4	546	c.348G>C	c.(346-348)ctG>ctC	p.L116L	PSMC4_ENST00000455878.2_Silent_p.L85L	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGCGCATCCTGAGCACCATCG	0.592000													16	46					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10445375	10445375	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:10445375G>C	ENST00000589261.1	-	5	1322	c.790C>G	c.(790-792)Cga>Gga	p.R264G	ICAM3_ENST00000160262.5_Missense_Mutation_p.R341G			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	341	Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			ACCTGGACTCGAGCCCCAGCC	0.632000													36	37					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103518675	103518675	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:103518675C>G	ENST00000355739.4	+	10	3686	c.2263C>G	c.(2263-2265)Cag>Gag	p.Q755E	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.T1180R|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCTCAAAAACAGCAGCAAGA	0.438000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				40	18					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24905009	24905009	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:24905009C>A	ENST00000313367.2	-	7	1076	c.625G>T	c.(625-627)Gtt>Ttt	p.V209F	OSBPL3_ENST00000353930.1_Missense_Mutation_p.V209F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.V209F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.V209F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.V209F|OSBPL3_ENST00000431825.2_Missense_Mutation_p.V209F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.V209F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	209					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CATAATGGAACTCGTGTCTCA	0.408000													40	111					4.14481e-20	4.5019e-20	1	1	0
IFT172	26160	broad.mit.edu	37	2	27683945	27683945	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:27683945C>G	ENST00000260570.3	-	23	2561	c.2458G>C	c.(2458-2460)Gag>Cag	p.E820Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	820					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGAATCTTCTCAAAGAGATCA	0.443000													74	127					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587675	42587675	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:42587675G>C	ENST00000289957.2	+	5	1353	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	409					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGAAGAAAGAACATTTTAT	0.343000													21	36					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3779343	3779343	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:3779343G>A	ENST00000262367.5	-	31	6514	c.5705C>T	c.(5704-5706)aCg>aTg	p.T1902M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1864M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1902					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGCTGCGGCGTCTGGGGTGT	0.687000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	5					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	9143222	9143222	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:9143222G>A	ENST00000173229.2	+	7	1859	c.1752G>A	c.(1750-1752)acG>acA	p.T584T	NTN1_ENST00000538852.1_Silent_p.T584T|NTN1_ENST00000546090.1_Silent_p.T584T	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	584	NTR.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGCGGGACACGTGGGCGCGGC	0.687000													8	1					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148372	129148372	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:129148372G>A	ENST00000540052.1	+	3	1668	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	BCORL1_ENST00000359304.2_Missense_Mutation_p.D542N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D542N|BCORL1_ENST00000303743.5_Missense_Mutation_p.D542N	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	542	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCTGCACCCGATGGGGTCCC	0.627000													157	5					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467039	21467039	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:21467039G>A	ENST00000281523.2	-	6	1315	c.797C>T	c.(796-798)aCa>aTa	p.T266I		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	266						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ACAGTGAAATGTTTTATTTTG	0.448000													41	162					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62703978	62703978	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:62703978C>T	ENST00000371153.4	-	10	3337	c.2959G>A	c.(2959-2961)Gcg>Acg	p.A987T	KANK4_ENST00000317477.4_Missense_Mutation_p.A125T|KANK4_ENST00000371150.1_Missense_Mutation_p.A343T|KANK4_ENST00000354381.3_Missense_Mutation_p.A359T	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).							NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCTGCTCCGCGTGGGCTCTC	0.577000													4	44					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135206325	135206325	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:135206325C>T	ENST00000409645.1	+	17	2385	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	MGAT5_ENST00000281923.2_Silent_p.F711F			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	711					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCCTGCTCTTCAGCTGTGCAG	0.587000													98	57					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24789223	24789223	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:24789223G>A	ENST00000342947.3	-	2	596	c.171C>T	c.(169-171)acC>acT	p.T57T	DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.T57T	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	57					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CATCGCCAAGGGTGAGGGATA	0.398000													37	123					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862997	50862997	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:50862997C>T	ENST00000253719.2	-	6	999	c.791G>A	c.(790-792)cGt>cAt	p.R264H	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	264					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGTCCCTCACCGCTCCATGTG	0.652000													32	50					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58289271	58289271	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:58289271C>G	ENST00000340635.6	-	7	1118	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	PDE4D_ENST00000546160.1_Missense_Mutation_p.E254Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E185Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.E193Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E251Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E254Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E24Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E13Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E179Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	315					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TGGGTGAGCTCCCGATTAAGC	0.323000													11	26					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155614	155614	+	RNA	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:155614C>G	ENST00000510175.1	+	0	1049							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AATTGGTCCTCAACCCTTAAT	0.383000													20	17					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4620511	4620511	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:4620511G>C	ENST00000269260.2	+	6	590		c.e6-1		ARRB2_ENST00000572457.1_Splice_Site|ARRB2_ENST00000381488.6_Splice_Site|ARRB2_ENST00000412477.3_Splice_Site|ARRB2_ENST00000346341.2_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000571206.1_Splice_Site	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTCCGCCACAGATACCCCAGA	0.567000													98	4					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379945	113379945	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:113379945G>A	ENST00000316407.4	-	7	994	c.584C>T	c.(583-585)cCt>cTt	p.P195L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P195L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	195					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AATAGATACAGGAGTCACAAG	0.448000													18	91					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22168683	22168683	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:22168683A>T	ENST00000356766.6	+	16	2007	c.1859A>T	c.(1858-1860)gAa>gTa	p.E620V	PIWIL2_ENST00000454009.2_Missense_Mutation_p.E620V|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E620V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	620					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CAGGCTCGAGAACTGGTCAAC	0.468000													107	109					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851450	65851450	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:65851450A>G	ENST00000395325.3	+	7	842	c.685A>G	c.(685-687)Aag>Gag	p.K229E	DNAJC6_ENST00000371069.4_Missense_Mutation_p.K286E|DNAJC6_ENST00000263441.7_Missense_Mutation_p.K216E|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	229	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCTCACTTCAAGCCTCTCAC	0.483000													13	53					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687520	61687520	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:61687520C>G	ENST00000577390.1	-	12	3346	c.2392G>C	c.(2392-2394)Gaa>Caa	p.E798Q	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	798					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTCAAGTTTCTTTGTCACTT	0.423000													47	27					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20512737	20512737	+	Silent	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:20512737A>G	ENST00000504154.1	+	11	1287	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	SLIT2_ENST00000273739.5_Silent_p.Q349Q|SLIT2_ENST00000503837.1_Silent_p.Q349Q|SLIT2_ENST00000503823.1_Silent_p.Q345Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	345					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGCTTTCCAAGGACTACGCT	0.383000													15	52					0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36036644	36036644	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:36036644G>A	ENST00000222284.5	+	1	148	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM147_ENST00000392205.1_Start_Codon_SNP_p.M1I|TMEM147_ENST00000392204.2_5'UTR|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	1						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ccggcATCATGACCCTGTTTC	0.706000													14	79					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737524	152737524	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:152737524C>T	ENST00000367255.5	-	41	6649	c.6048G>A	c.(6046-6048)caG>caA	p.Q2016Q	SYNE1_ENST00000423061.1_Silent_p.Q2023Q|SYNE1_ENST00000341594.5_Silent_p.Q2053Q|SYNE1_ENST00000448038.1_Silent_p.Q2023Q|SYNE1_ENST00000265368.4_Silent_p.Q2016Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2016					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATTTACCTCTGCTGAAGAG	0.393000										HNSCC(10;0.0054)			74	59					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055531	50055531	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:50055531A>T	ENST00000281631.5	+	4	397	c.239A>T	c.(238-240)gAg>gTg	p.E80V	PARP8_ENST00000503750.2_Missense_Mutation_p.E80V|PARP8_ENST00000505697.2_Missense_Mutation_p.E80V|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.E59V|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E80V	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	80						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTTACTACAGAGCCAATACCA	0.249000													103	34					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	675395	675395	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:675395C>T	ENST00000319815.6	-	7	1730	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ENOSF1_ENST00000340116.7_Missense_Mutation_p.E393K|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.E304K|ENOSF1_ENST00000580982.1_Missense_Mutation_p.E310K|ENOSF1_ENST00000251101.7_Missense_Mutation_p.E386K			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	386					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCAACATACTCACACACCCTA	0.522000													7	5					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727379	42727379	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:42727379A>T	ENST00000287777.4	+	1	369	c.269A>T	c.(268-270)tAc>tTc	p.Y90F		NM_152393.2	NP_689606.2			kelch-like family member 40																		CACTACCTGTACACATCAGAG	0.642000													17	72					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213429	9213429	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:9213429A>G	ENST00000305456.2	-	1	553	c.554T>C	c.(553-555)tTg>tCg	p.L185S		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GGACAGCCTCAACACCATCAG	0.502000													8	66					0	0	1	0	0
MLX	6945	broad.mit.edu	37	17	40722088	40722088	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:40722088C>G	ENST00000246912.4	+	7	780	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	MLX_ENST00000435881.2_Missense_Mutation_p.Q189E|MLX_ENST00000346833.4_Missense_Mutation_p.Q159E	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	243					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAACGTGTTTCAAGGCATCAT	0.532000													66	24					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12070788	12070788	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:12070788C>A	ENST00000356352.2	-	2	1574	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	UPF2_ENST00000357604.5_Silent_p.L367L|UPF2_ENST00000397053.2_Silent_p.L367L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	367	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTCCCTTTTCAGGTGTTTGG	0.368000													55	25					1.38909e-20	1.52283e-20	1	1	0
ANK3	288	broad.mit.edu	37	10	61832367	61832367	+	Missense_Mutation	SNP	C	C	T	rs150537210	byFrequency	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:61832367C>T	ENST00000280772.2	-	37	8463	c.8272G>A	c.(8272-8274)Gtc>Atc	p.V2758I	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTTGGTAGACGGGTAGCTTG	0.408000													47	81					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75116558	75116558	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:75116558C>G	ENST00000290573.2	+	17	3162	c.2562C>G	c.(2560-2562)ctC>ctG	p.L854L	HK2_ENST00000409174.1_Silent_p.L826L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	854	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGGACGCTCTCAAAGTGACAG	0.602000													31	15					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034486	37034486	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:37034486A>G	ENST00000322716.5	-	1	309	c.83T>C	c.(82-84)gTg>gCg	p.V28A		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	28						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGGCTCCACCACCAAATAACG	0.627000													81	21					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781979	107781979	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:107781979A>C	ENST00000311955.3	-	1	494	c.440T>G	c.(439-441)aTt>aGt	p.I147S		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	147					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GATTCTGTCAATGTCATTCTC	0.572000													5	179					0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33480132	33480132	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:33480132C>T	ENST00000373449.2	-	5	530	c.489G>A	c.(487-489)atG>atA	p.M163I	AK2_ENST00000467905.1_Missense_Mutation_p.M163I|AK2_ENST00000548033.1_Missense_Mutation_p.M121I|AK2_ENST00000480134.1_Missense_Mutation_p.E132K|AK2_ENST00000354858.6_Missense_Mutation_p.M163I|RP1-117O3.2_ENST00000427524.1_RNA	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	163					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGTCATCTTTCATGGGCTCTT	0.403000													137	167					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399366	107399366	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:107399366C>A	ENST00000440859.3	+	6	1686	c.1219C>A	c.(1219-1221)Ccc>Acc	p.P407T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P406T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCCAGGACCTCCCCCACCTCA	0.512000													77	88					1.48481e-22	1.64307e-22	1	1	0
ALG3	10195	broad.mit.edu	37	3	183963350	183963350	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:183963350C>T	ENST00000455059.1	-	3	684	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	ALG3_ENST00000397676.3_Missense_Mutation_p.R117Q|ALG3_ENST00000445626.2_Missense_Mutation_p.R69Q|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.R61Q			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	117					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCAGTGCCTCGGCTGGTGGC	0.512000													6	48					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36104669	36104669	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:36104669G>A	ENST00000225893.4	-	1	568	c.207C>T	c.(205-207)caC>caT	p.H69H	HNF1B_ENST00000427275.2_Silent_p.H69H|HNF1B_ENST00000560016.1_Silent_p.H69H|HNF1B_ENST00000561193.1_Silent_p.H69H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	69					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGCCCTTGGCGTGGCCGTTGG	0.677000													65	24					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49221298	49221298	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:49221298C>T	ENST00000327979.2	-	12	1369	c.958G>A	c.(958-960)Gag>Aag	p.E320K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E320K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E324K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	320										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAAGCTCTCAGTATCAAAC	0.602000													23	33					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139620211	139620211	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:139620211A>T	ENST00000303045.6	-	57	4446	c.4000T>A	c.(4000-4002)Tct>Act	p.S1334T	COL22A1_ENST00000435777.1_Missense_Mutation_p.S1314T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1334	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCTGGAGATCCCGGTGAT	0.522000										HNSCC(7;0.00092)			14	39					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423000													34	49					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18630101	18630101	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:18630101G>T	ENST00000406451.4	+	4	548	c.398G>T	c.(397-399)gGa>gTa	p.G133V	HDAC9_ENST00000406072.1_Missense_Mutation_p.G164V|HDAC9_ENST00000456174.2_Missense_Mutation_p.G105V|HDAC9_ENST00000432645.2_Missense_Mutation_p.G133V|HDAC9_ENST00000401921.1_Missense_Mutation_p.G136V|HDAC9_ENST00000405010.3_Missense_Mutation_p.G133V|HDAC9_ENST00000428307.2_Missense_Mutation_p.G133V|HDAC9_ENST00000524023.1_Missense_Mutation_p.G102V|HDAC9_ENST00000417496.2_Missense_Mutation_p.G175V|HDAC9_ENST00000441542.2_Missense_Mutation_p.G136V	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAGATAGAGGACGAGAAAGT	0.478000													4	3					1.23904e-05	1.27146e-05	1	1	0
AGO1	26523	broad.mit.edu	37	1	36359312	36359312	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:36359312G>C	ENST00000373204.4	+	5	763	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	AGO1_ENST00000373206.1_Missense_Mutation_p.E109Q	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CTCACCGCCTGAGGGCTACTA	0.642000													28	26					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056848	1056848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr9:1056848C>T	ENST00000382251.3	+	5	1590	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Nonsense_Mutation_p.Q421*|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Nonsense_Mutation_p.Q421*			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	421					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCAGGGTCATCAGGCTGTCCC	0.562000													56	4					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59376398	59376398	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:59376398C>T	ENST00000348370.4	+	9	2801	c.2368C>T	c.(2368-2370)Cat>Tat	p.H790Y	RNF111_ENST00000559209.1_Missense_Mutation_p.H799Y|RNF111_ENST00000561186.1_Missense_Mutation_p.H799Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H799Y|RNF111_ENST00000557998.1_Missense_Mutation_p.H790Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	790					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCATCATATTCATGTGCCTCA	0.502000													49	62					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100363585	100363585	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:100363585G>C	ENST00000262233.6	+	7	920	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	EML1_ENST00000334192.4_Missense_Mutation_p.E280Q|EML1_ENST00000327921.9_Missense_Mutation_p.E249Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	261						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAACGTGGAGGAGCAACTGCA	0.542000													83	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901489	215901489	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:215901489C>T	ENST00000366943.2	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000307340.3_Silent_p.L3983L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25.				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)		TTGTCCAATTCAACAGAACTG	0.498000										HNSCC(13;0.011)			84	69					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31032580	31032580	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:31032580G>C	ENST00000343605.4	+	1	942	c.143G>C	c.(142-144)cGa>cCa	p.R48P	SLC35E4_ENST00000406566.1_Missense_Mutation_p.R48P|SLC35E4_ENST00000300385.8_Missense_Mutation_p.R48P	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	48						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCCGGGCCCGAGTGGCCATG	0.697000													6	14					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643069	105643069	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:105643069G>C	ENST00000392568.2	-	4	323	c.230C>G	c.(229-231)tCc>tGc	p.S77C	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	77	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCTGCTAGGGACCCTGGGAA	0.672000										HNSCC(42;0.11)			69	44					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621349	7621349	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:7621349C>T	ENST00000221249.6	+	28	3421	c.2990C>T	c.(2989-2991)tCg>tTg	p.S997L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1035L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S997L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S970L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1045L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1036	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCATGACTTCGGTGCTGGAA	0.532000													99	77					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579139	58579139	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:58579139G>C	ENST00000506786.1	+	5	1715	c.1161G>C	c.(1159-1161)cgG>cgC	p.R387R	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.R429R|ZNF135_ENST00000401053.4_Silent_p.R453R|ZNF135_ENST00000511556.1_Silent_p.R441R|ZNF135_ENST00000313434.5_Silent_p.R429R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	441					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCGAGCATCGGAGGATTCACA	0.552000													49	72					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86260627	86260627	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:86260627G>A	ENST00000394518.2	+	21	5937	c.5842G>A	c.(5842-5844)Gat>Aat	p.D1948N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1952N|AKAP13_ENST00000394510.2_Missense_Mutation_p.D193N|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1948	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATCACTTACTGATGAGGGTAA	0.393000													28	24					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62191595	62191595	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:62191595G>C	ENST00000467148.1	-	17	7655	c.7586C>G	c.(7585-7587)tCt>tGt	p.S2529C	HELZ2_ENST00000427522.2_Missense_Mutation_p.S1960C	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCTGATCTCAGAGGCCTGCGC	0.687000													3	6					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32360261	32360261	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:32360261C>G	ENST00000357033.4	-	41	6084	c.5878G>C	c.(5878-5880)Gag>Cag	p.E1960Q	DMD_ENST00000378677.2_Missense_Mutation_p.E1956Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1960					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATTTGCTCTCAATTTCCCGC	0.493000													38	0					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177377	6177377	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:6177377C>G	ENST00000588304.1	+	8	1172	c.726C>G	c.(724-726)ctC>ctG	p.L242L	ACSBG2_ENST00000586696.1_Silent_p.L292L|ACSBG2_ENST00000252669.5_Silent_p.L292L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Silent_p.L105L|ACSBG2_ENST00000591403.1_Silent_p.L292L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	292					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGGGCGCTCACATACTTTG	0.507000													18	23					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	89					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16477416	16477416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:16477416C>T	ENST00000358432.5	-	2	282	c.128G>A	c.(127-129)tGg>tAg	p.W43*	EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	43					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTGTGTGAGCCAGCCGAGCTC	0.597000													55	70					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609455	18609455	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:18609455C>T	ENST00000330423.3	+	4	783	c.710C>T	c.(709-711)tCa>tTa	p.S237L	TUBA8_ENST00000316027.6_Missense_Mutation_p.S171L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	237					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						ATTGTGTCCTCAATCACTGCT	0.562000													4	130					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1960113	1960113	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:1960113T>A	ENST00000380815.4	-	6	900	c.631A>T	c.(631-633)Agt>Tgt	p.S211C	GMDS_ENST00000530927.1_Missense_Mutation_p.S181C	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	211					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTTCTGGGACTCTCATGATTG	0.403000													13	51					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101550937	101550937	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:101550937G>C	ENST00000284395.5	+	10	1567	c.1167G>C	c.(1165-1167)ttG>ttC	p.L389F	LRRK1_ENST00000388948.3_Missense_Mutation_p.L392F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	392					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACAATAAATTGACAGAACTCC	0.408000													55	61					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892849	56892849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:56892849G>T	ENST00000256857.2	+	2	363	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	GRP_ENST00000529320.2_Nonsense_Mutation_p.E89*|GRP_ENST00000420468.2_Nonsense_Mutation_p.E89*	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	89					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GGGTCTCATAGAAGCAAAGGA	0.517000													50	56					9.90819e-18	1.0631e-17	1	1	0
AREL1	9870	broad.mit.edu	37	14	75131623	75131623	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:75131623C>G	ENST00000356357.4	-	18	2624	c.2109G>C	c.(2107-2109)ctG>ctC	p.L703L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TCCCACACATCAGCAGCTGGA	0.418000													45	18					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57346720	57346720	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:57346720G>C	ENST00000398138.3	-	3	1483	c.627C>G	c.(625-627)ttC>ttG	p.F209L	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	209					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAGCAGTCTTGAAATAGCCAG	0.507000													94	114					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530641	42530641	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:42530641G>A	ENST00000282030.5	+	4	1632	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	446						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATGAGCAGTGAAGTAGTTAA	0.448000									Schinzel-Giedion syndrome				51	61					0	0	1	0	0
CCDC34	91057	broad.mit.edu	37	11	27360410	27360410	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:27360410C>G	ENST00000328697.6	-	6	1753	c.1080G>C	c.(1078-1080)agG>agC	p.R360S	CCDC34_ENST00000529615.1_Intron	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	360										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						AAAGATTGCTCCTGGCTTTAT	0.378000													94	4					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023323	39023323	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:39023323G>A	ENST00000355481.4	+	77	11322	c.11191G>A	c.(11191-11193)Gag>Aag	p.E3731K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3736K|RYR1_ENST00000359596.3_Missense_Mutation_p.E3736K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3736					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCACCTGGAGGAGGGAGG	0.612000													21	43					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91852289	91852289	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:91852289C>T	ENST00000394507.1	-	14	2041	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	KRIT1_ENST00000394503.2_Missense_Mutation_p.E372K|KRIT1_ENST00000340022.2_Missense_Mutation_p.E420K|KRIT1_ENST00000412043.2_Missense_Mutation_p.E420K|KRIT1_ENST00000394505.2_Missense_Mutation_p.E420K	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	420	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGAACTTTTTCATACTACAAG	0.328000													24	28					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034702	52034702	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:52034702C>T	ENST00000346477.3	-	2	207	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V47I|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V47I|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V47I|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V47I	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	47	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGTACGAGGACGCACAGACCC	0.607000													36	37					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141595697	141595697	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:141595697C>G	ENST00000286371.3	+	1	242	c.54C>G	c.(52-54)ctC>ctG	p.L18L	ATP1B3_ENST00000539728.1_5'UTR|ATP1B3_ENST00000462082.1_5'UTR	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	18					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AGTGGAAGCTCTTCATCTACA	0.687000													78	16					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48831591	48831591	+	Silent	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:48831591G>T	ENST00000376441.1	-	25	2443	c.2409C>A	c.(2407-2409)ctC>ctA	p.L803L	GRIPAP1_ENST00000376425.3_Silent_p.L772L|GRIPAP1_ENST00000376444.3_Silent_p.L758L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	803						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TATTCTTGGTGAGCTGCTCCT	0.592000													19	1					3.32936e-07	3.45666e-07	1	1	0
CLNS1A	1207	broad.mit.edu	37	11	77336056	77336056	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:77336056C>T	ENST00000525428.1	-	4	514	c.424G>A	c.(424-426)Gag>Aag	p.E142K	CLNS1A_ENST00000528364.1_Missense_Mutation_p.E142K|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E142K|CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000263309.3_Missense_Mutation_p.E108K	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	142					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TCTGAATCCTCATCCTCAGGA	0.383000													42	35					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197476899	197476899	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:197476899G>A	ENST00000241502.4	+	1	279	c.57G>A	c.(55-57)ccG>ccA	p.P19P	FYTTD1_ENST00000428395.2_Intron|FYTTD1_ENST00000415708.2_Intron	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1						mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CGCCGCCGCCGAAGGCCCGCA	0.652000													6	41					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111417577	111417577	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:111417577C>G	ENST00000535254.1	-	10	1261	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H	BUB1_ENST00000302759.6_Missense_Mutation_p.Q418H|BUB1_ENST00000409311.1_Missense_Mutation_p.Q418H	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	418					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTGCTCCACTCTGTGGCTTGA	0.398000													42	83					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55525588	55525588	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:55525588C>G	ENST00000310373.3	-	8	1752	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L	GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		tctcccacctcagccccctga	0.512000													5	7					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526302	189526302	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:189526302C>T	ENST00000264731.3	+	4	655	c.566C>T	c.(565-567)tCg>tTg	p.S189L	TP63_ENST00000456148.1_Missense_Mutation_p.S95L|TP63_ENST00000354600.5_Missense_Mutation_p.S95L|TP63_ENST00000437221.1_Missense_Mutation_p.S95L|TP63_ENST00000392463.2_Missense_Mutation_p.S95L|TP63_ENST00000418709.2_Missense_Mutation_p.S189L|TP63_ENST00000392461.3_Missense_Mutation_p.S95L|TP63_ENST00000440651.2_Missense_Mutation_p.S189L|TP63_ENST00000392460.3_Missense_Mutation_p.S189L|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.S189L|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	189					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCGCCAAGTCGGCCACCTGG	0.622000										HNSCC(45;0.13)			80	37					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7804619	7804619	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:7804619G>C	ENST00000380358.4	+	20	3356	c.3355G>C	c.(3355-3357)Ggg>Cgg	p.G1119R	CHD3_ENST00000330494.7_Missense_Mutation_p.G1060R|CHD3_ENST00000358181.4_Missense_Mutation_p.G1060R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1060	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TAAGTCGTCTGGGAAGCTCAT	0.552000													59	0					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455163	37455163	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:37455163C>G	ENST00000234170.5	-	2	1318	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	391					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGGATCTCCCAGTTTATTTA	0.428000													73	142					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20029079	20029079	+	Silent	SNP	G	G	A	rs143643352	byFrequency	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:20029079G>A	ENST00000377340.2	-	5	877	c.846C>T	c.(844-846)taC>taT	p.Y282Y	CRNKL1_ENST00000536226.1_Silent_p.Y121Y|CRNKL1_ENST00000377327.4_Silent_p.Y270Y	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	282					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCATTTCTGCGTATTTCAGCC	0.433000													20	74					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42781263	42781263	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:42781263C>T	ENST00000310232.6	-	9	1110	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	343										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTAGCTCTTCAAGCTCTCTC	0.517000													32	158					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122187649	122187649	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:122187649G>A	ENST00000263710.4	-	20	2406	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	CLASP1_ENST00000545861.1_Splice_Site_p.R449*|CLASP1_ENST00000455322.2_Splice_Site_p.R673*|CLASP1_ENST00000409078.3_Splice_Site_p.R673*|CLASP1_ENST00000541859.1_Splice_Site_p.R442*|CLASP1_ENST00000541377.1_Splice_Site_p.P689S|CLASP1_ENST00000397587.3_Splice_Site_p.R681*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	673	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTTTCTTACGCTGGGACTGT	0.468000													3	11					0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76932913	76932913	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:76932913C>T	ENST00000306422.3	-	2	1318	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGATGTCCTCCCCGGGCAGCA	0.726000													10	7					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936459	49936459	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:49936459G>A	ENST00000398718.1	-	2	179	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	60					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CCGCACAGCAGGGGTTAACAT	0.353000													7	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490792	76490792	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:76490792C>G	ENST00000389840.5	-	40	6235	c.6111G>C	c.(6109-6111)ctG>ctC	p.L2037L	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.L2046L					dynein, axonemal, heavy chain 17									p.L2046L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAAGTCTCTCAGCGCCCGCA	0.637000													32	84					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10445261	10445261	+	Missense_Mutation	SNP	G	G	C	rs142276897		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:10445261G>C	ENST00000589261.1	-	5	1436	c.904C>G	c.(904-906)Ctc>Gtc	p.L302V	ICAM3_ENST00000160262.5_Missense_Mutation_p.L379V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	379					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCCACCTCGAGAGTGGCACTG	0.622000													32	33					0	0	1	0	0
RAB2B	84932	broad.mit.edu	37	14	21929395	21929395	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr14:21929395C>T	ENST00000397762.1	-	8	711	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	204					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ACGAGAGTTCCGCTGGGAGGC	0.478000													77	70					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812366	109812366	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:109812366G>A	ENST00000271332.3	+	22	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2344	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632000													45	148					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89393004	89393004	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:89393004G>C	ENST00000558207.1	+	10	2411	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q	ACAN_ENST00000561243.1_Intron|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000439576.2_Intron|ACAN_ENST00000352105.7_Intron			E7EX88	E7EX88_HUMAN	aggrecan	698					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTTTGTCTGGAGAGGACCCC	0.597000													7	3					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49519079	49519079	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:49519079G>A	ENST00000413176.2	+	15	2385	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	RUVBL2_ENST00000601968.1_3'UTR|RUVBL2_ENST00000595090.1_Missense_Mutation_p.E458K			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	458					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CACAGAAGGCGAGACCATGGA	0.582000													12	40					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59376407	59376407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:59376407C>T	ENST00000348370.4	+	9	2810	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q802*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q802*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q802*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q793*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	793					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGTGCCTCAGACTATGTC	0.483000													55	59					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340732	39340732	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:39340732G>C	ENST00000398472.1	-	1	862	c.375C>G	c.(373-375)ctC>ctG	p.L125L				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	125	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCTGACAGCAGAGTGGACGGC	0.602000													47	193					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74896561	74896561	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:74896561C>A	ENST00000372979.4	-	13	1811	c.1605G>T	c.(1603-1605)ctG>ctT	p.L535L	ECD_ENST00000454759.2_Silent_p.L492L|ECD_ENST00000430082.2_Silent_p.L568L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	535					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GTGTTCCTTTCAGGGAAGCCT	0.443000													42	102					8.48111e-28	9.53449e-28	1	1	0
SAC3D1	29901	broad.mit.edu	37	11	64812123	64812123	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:64812123G>A	ENST00000398846.1	+	2	1390	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SAC3D1_ENST00000531072.1_Missense_Mutation_p.R334Q|SAC3D1_ENST00000530213.1_3'UTR	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						AGCAAACTTCGAGGACGTACC	0.612000													51	92					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548292	22548292	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:22548292G>C	ENST00000317216.2	-	2	1215	c.858C>G	c.(856-858)ttC>ttG	p.F286L	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.F248L|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	286					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGAACGGCTGAAACGGCGGT	0.697000													36	43					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28418977	28418977	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:28418977C>G	ENST00000394835.3	+	21	4218	c.4026C>G	c.(4024-4026)ctC>ctG	p.L1342L	EFCAB5_ENST00000320856.5_Silent_p.L1218L|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1342							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCCAACTACTCAATTCCATGG	0.443000													13	50					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109312023	109312023	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:109312023C>G	ENST00000436639.2	-	8	1994	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	SESN1_ENST00000302071.2_Missense_Mutation_p.D292H|SESN1_ENST00000356644.7_Missense_Mutation_p.D358H	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	358					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TAACCATGATCTTCCCAGCAA	0.338000													44	15					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762897	30762897	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:30762897C>G	ENST00000563588.1	+	4	538	c.299C>G	c.(298-300)tCt>tGt	p.S100C	PHKG2_ENST00000328273.7_Missense_Mutation_p.S100C|PHKG2_ENST00000424889.3_Missense_Mutation_p.S100C	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	100	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TACGAGTCTTCTAGCTTCATG	0.537000													115	237					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49221196	49221196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:49221196C>A	ENST00000327979.2	-	12	1471	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	FAM65C_ENST00000045083.2_Nonsense_Mutation_p.E354*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.E358*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	354										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGTATCTCTCCCGGAAGCTG	0.652000													44	38					2.24722e-20	2.44836e-20	1	1	0
NARFL	64428	broad.mit.edu	37	16	780560	780560	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:780560C>T	ENST00000540986.1	-	10	2417	c.982G>A	c.(982-984)Gag>Aag	p.E328K	NARFL_ENST00000568545.1_Missense_Mutation_p.E328K|NARFL_ENST00000251588.2_Missense_Mutation_p.E430K|NARFL_ENST00000562862.1_5'UTR			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	430					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	p.E430K(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCGGGCGCCTCAGCCCGGACC	0.667000													51	32					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469615	120469615	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:120469615C>G	ENST00000283875.5	+	2	309	c.216C>G	c.(214-216)atC>atG	p.I72M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	72	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACAAGTTTATCAAATGCAGAA	0.403000													100	30					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41584414	41584414	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:41584414G>C	ENST00000262415.3	+	13	1844	c.1772G>C	c.(1771-1773)gGa>gCa	p.G591A	DHX8_ENST00000540306.1_Missense_Mutation_p.G591A	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	591	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGTGAGACAGGATCTGGAAAG	0.468000													69	36					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989724	2989724	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:2989724C>T	ENST00000246112.4	+	13	1386	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.F272F	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	272					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		acctggCCTTCGCCAGCTTCA	0.642000													32	32					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79805199	79805199	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:79805199C>T	ENST00000331483.4	-	5	871	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.E173K|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	217					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ACCTCCCCTTCAAAGTTGTTC	0.597000													75	22					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154397065	154397065	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:154397065C>G	ENST00000435029.4	+	1	3806	c.3646C>G	c.(3646-3648)Ctg>Gtg	p.L1216V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1216	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAACGAGCTCTGGCTAGCAA	0.517000													8	11					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394770	64394770	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:64394770A>T	ENST00000262043.3	+	4	1487	c.1147A>T	c.(1147-1149)Att>Ttt	p.I383F	PHF3_ENST00000509330.1_Missense_Mutation_p.I383F|PHF3_ENST00000393387.1_Missense_Mutation_p.I383F			Q92576	PHF3_HUMAN	PHD finger protein 3	383					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCATGGGTATTGCTGATAA	0.383000													44	47					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90585039	90585039	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:90585039G>C	ENST00000406263.1	+	8	1158	c.716G>C	c.(715-717)aGc>aCc	p.S239T	CDK14_ENST00000265741.3_Missense_Mutation_p.S267T|CDK14_ENST00000436577.2_Missense_Mutation_p.S156T|CDK14_ENST00000380050.3_Missense_Mutation_p.S285T			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	285	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCCGTCCCTAGCCACACATAC	0.423000													49	168					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390374	8390374	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:8390374C>A	ENST00000471889.1	+	5	1206	c.821C>A	c.(820-822)gCg>gAg	p.A274E	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A308E|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A274E			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	274					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCACTGCGGTCACCCTG	0.647000													28	54					7.01153e-11	7.38827e-11	1	1	0
LIPA	3988	broad.mit.edu	37	10	90982335	90982335	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:90982335C>G	ENST00000336233.5	-	8	1149	c.827G>C	c.(826-828)aGa>aCa	p.R276T	LIPA_ENST00000371837.1_Missense_Mutation_p.R220T|LIPA_ENST00000456827.1_Missense_Mutation_p.R276T			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	276					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TACATCCACTCTAGACTGCAA	0.378000													52	39					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930628	133930628	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:133930628C>T	ENST00000298622.4	+	2	321	c.183C>T	c.(181-183)cgC>cgT	p.R61R		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCAGGTGCGCGAGCATGAGC	0.582000													15	31					0	0	1	0	0
CRABP1	1381	broad.mit.edu	37	15	78633520	78633520	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:78633520G>A	ENST00000299529.6	+	2	311	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	69					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	TTCAAGGTCGGAGAAGGCTTT	0.632000													10	21					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54361959	54361959	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:54361959C>G	ENST00000254442.3	+	10	1287	c.1076C>G	c.(1075-1077)tCa>tGa	p.S359*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.S359*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	359										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGAACATATCAGACACAGCT	0.328000													33	31					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123220428	123220428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:123220428C>T	ENST00000371160.1	+	30	3375	c.3085C>T	c.(3085-3087)Cag>Tag	p.Q1029*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q960*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q1029*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q1029*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q1029*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q1029*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1029					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATGACCTTTCAGATGTCACT	0.403000													50	2					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	3					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48135293	48135293	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:48135293C>T	ENST00000405493.2	-	19	2001	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E598K|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E640K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E640K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E598K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E549K	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	598					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTACCAGCTCATGCACTTCC	0.592000													40	64					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028967	54028967	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:54028967G>A	ENST00000185150.4	+	8	998	c.867G>A	c.(865-867)agG>agA	p.R289R	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Silent_p.R289R|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Silent_p.R289R	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	289					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TGCCTTTTAGGAGAAATAAAG	0.368000													65	49					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205290726	205290726	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:205290726C>G	ENST00000367157.3	-	1	157	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	11					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGTGGGGCCGGAGCGCCGC	0.692000													18	21					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872887	39872887	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:39872887G>C	ENST00000502986.2	+	11	1271	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	IDO2_ENST00000389060.4_Silent_p.L330L|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	330					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACCACTTGCTGACAGCTTATA	0.532000													30	28					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114400181	114400181	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:114400181G>A	ENST00000545145.2	-	2	153	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RBM19_ENST00000261741.5_Silent_p.F25F|RBM19_ENST00000392561.3_Silent_p.F25F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	25	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCAGCGTGCCGAAGGCGGCAA	0.527000													40	38					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70346944	70346944	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:70346944C>T	ENST00000333646.6	+	20	3010	c.2811C>T	c.(2809-2811)ctC>ctT	p.L937L	MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Silent_p.L937L|MED12_ENST00000374080.3_Silent_p.L937L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	937					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATGCCTGCCTCATCCTCAACC	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						23	2					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768852	50768852	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:50768852C>T	ENST00000216923.4	-	6	2228	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ZFP64_ENST00000346617.4_Missense_Mutation_p.E573K|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.E625K	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ACTGTCACTTCTGCTGTCCCC	0.547000													45	46					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9990803	9990803	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:9990803C>G	ENST00000412055.1	-	2	1126	c.997G>C	c.(997-999)Gat>Cat	p.D333H	PRRT3_ENST00000411976.2_Missense_Mutation_p.D333H|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	333	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GACGGCCGATCAGGAGCCTCT	0.612000													79	27					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133146599	133146599	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:133146599C>T	ENST00000388996.4	-	13	2157	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNQ3_ENST00000519445.1_Silent_p.T579T|KCNQ3_ENST00000521134.1_Silent_p.T459T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	579					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTGTTTTGGCGTGGAGGGAG	0.483000													4	66					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797326	77797326	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:77797326C>T	ENST00000354212.4	-	15	2756	c.2503G>A	c.(2503-2505)Ggc>Agc	p.G835S	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835S|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding	p.G835S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTTTTGCCGGCTACTGGA	0.537000													82	85					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915196	23915196	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:23915196G>C	ENST00000382298.3	-	10	3407	c.2819C>G	c.(2818-2820)tCt>tGt	p.S940C	SACS_ENST00000402364.1_Missense_Mutation_p.S190C|SACS_ENST00000382292.3_Missense_Mutation_p.S940C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	940					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTTGTATAAGAGGAAATTCC	0.368000													35	79					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228246896	228246896	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:228246896C>A	ENST00000284523.1	+	4	867	c.789C>A	c.(787-789)ttC>ttA	p.F263L	WNT3A_ENST00000366753.2_Missense_Mutation_p.F263L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	263					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACACCTACTTCAAGGTGCCCA	0.667000													19	16					1.67942e-08	1.75915e-08	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205031622	205031622	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:205031622G>A	ENST00000331830.4	+	10	1449	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	389	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGCCTGGAAGACTCGGGCAT	0.632000													37	31					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964951	50964951	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:50964951C>T	ENST00000357701.5	+	25	3135	c.3084C>T	c.(3082-3084)ctC>ctT	p.L1028L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1028					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCGCATCCTCAAGACAGGTA	0.607000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	28					0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49610903	49610903	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:49610903G>A	ENST00000221448.5	+	9	795	c.599G>A	c.(598-600)aGa>aAa	p.R200K	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R200K	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	200					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTGGTACCAGAAGAGGAGGG	0.637000													29	59					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986567	15986567	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:15986567G>C	ENST00000345034.1	+	1	204	c.204G>C	c.(202-204)aaG>aaC	p.K68N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	68					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTGAAAAGAAAGAACATC	0.453000													69	70					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944805	2944805	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:2944805G>T	ENST00000602557.1	-	50	7846	c.7291C>A	c.(7291-7293)Cct>Act	p.P2431T	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2431T|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2431T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2430T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2430T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2431T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2431	CUB 14.|Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCAGTAAGGTGCTGTGGGC	0.458000													24	120					3.6726e-16	3.92857e-16	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51671476	51671476	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:51671476C>G	ENST00000409535.2	+	10	1764	c.1639C>G	c.(1639-1641)Cgg>Ggg	p.R547G	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R241G	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CATGCGGTACCGGAGCCATGT	0.572000													8	46					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43459909	43459909	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:43459909G>A	ENST00000331018.7	-	7	897	c.657C>T	c.(655-657)tgC>tgT	p.C219C	TTLL1_ENST00000266254.7_Silent_p.C219C			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	219	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCAGAACCGGCAAAACCCAA	0.458000													4	154					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071507	20071507	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:20071507C>T	ENST00000245957.5	+	7	662	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	C20orf26_ENST00000377306.1_Missense_Mutation_p.L196F|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.L196F	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	196										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCATGACGATCTCATGCCAAT	0.443000													135	95					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131540840	131540840	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:131540840A>T	ENST00000431975.2	+	7	840	c.742A>T	c.(742-744)Atc>Ttc	p.I248F	AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.I226F|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.I247F	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGTTTATCAGTCACAG	0.313000													16	38					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39998664	39998664	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:39998664T>A	ENST00000308666.3	-	4	1440	c.1305A>T	c.(1303-1305)agA>agT	p.R435S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	435					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TATAAATGCCTCTTTTTACTT	0.373000													21	74					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455357	37455357	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:37455357C>G	ENST00000234170.5	-	2	1124	c.979G>C	c.(979-981)Gat>Cat	p.D327H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	327					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGTCTTCTATCTCTTGAGTCC	0.408000													50	76					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587805	39587805	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:39587805C>T	ENST00000352251.3	-	11	2417	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.Q506Q	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	528	Ser-rich.																TGGAAGTCCTCTGTGGGGTAG	0.552000													42	40					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045858	26045858	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:26045858G>C	ENST00000540144.1	+	1	220	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCTGGTGCGAGAAATCGCCCA	0.627000													50	34					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2159522	2159522	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr16:2159522C>A	ENST00000262304.4	-	15	5854	c.5646G>T	c.(5644-5646)acG>acT	p.T1882T	PKD1_ENST00000423118.1_Silent_p.T1882T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1882	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCTCCGCCGTGAGGTTGT	0.647000													6	8					0.00116845	0.00118865	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47031020	47031020	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:47031020G>A	ENST00000450053.3	+	6	672	c.493G>A	c.(493-495)Gag>Aag	p.E165K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E165K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	165							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCTCCAAGGAGAAGAGCAA	0.637000													12	2					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87558870	87558870	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:87558870C>G	ENST00000521271.1	+	10	942	c.780C>G	c.(778-780)agC>agG	p.S260R	CPNE3_ENST00000198765.4_Missense_Mutation_p.S260R	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	260					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGAAAAAAAGCTACAAGAATT	0.323000													25	111					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364671	113364671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:113364671G>A	ENST00000297405.5	-	39	6473	c.6229C>T	c.(6229-6231)Cag>Tag	p.Q2077*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1973*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q2037*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q2007*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2077	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATCACACTGAAAGGATACT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	59					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28520308	28520308	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:28520308G>A	ENST00000383768.2	+	5	684	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E166K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	166							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TATATAGCCAGAAAAGTGTAA	0.294000													45	15					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14749321	14749321	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:14749321A>G	ENST00000284268.6	-	6	1112	c.782T>C	c.(781-783)tTt>tCt	p.F261S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.F63S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	261					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCGGGAAACAAAGAGGTTGAC	0.547000													163	55					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459955	47459955	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:47459955G>A	ENST00000265565.5	-	15	2599	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	SCAP_ENST00000545718.1_Silent_p.L337L|SCAP_ENST00000441517.2_Silent_p.L474L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	729	Poly-Leu.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCACGCGGTAGAGGCAGAGCA	0.716000													15	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479481	179479481	+	Splice_Site	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:179479481C>A	ENST00000589042.1	-	261	48985		c.e261-1		TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TCTGGGGCCTCTGAATTGGAA	0.408000													14	0					2.61681e-11	2.76568e-11	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100887665	100887665	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:100887665G>C	ENST00000358544.2	+	62	11951	c.11840G>C	c.(11839-11841)aGa>aCa	p.R3947T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R3922T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3947					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTCCGAGAGAGACTGTCAGAG	0.448000													80	94					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66447039	66447039	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:66447039C>G	ENST00000262139.5	-	3	163		c.e3-1		WIPI1_ENST00000589459.1_Splice_Site|WIPI1_ENST00000546360.1_Splice_Site	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1						macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGGATTTCATCTGGGAGGAAA	0.552000													44	16					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3731985	3731985	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:3731985C>T	ENST00000378230.3	-	22	3083	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	920						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGCGTACGTCCTGCTGGAGCT	0.632000													9	9					0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30595007	30595007	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:30595007C>T	ENST00000330083.5	+	1	345	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376483.4_Intron|ATAT1_ENST00000329992.8_Intron|ATAT1_ENST00000318999.7_Intron|ATAT1_ENST00000376478.2_Intron|ATAT1_ENST00000376485.4_Intron|ATAT1_ENST00000319027.5_Intron	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	0							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CTTTCTGCTTCCTCACAATAA	0.517000													28	23					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773663	229773663	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:229773663C>A	ENST00000258243.2	+	4	3439	c.3303C>A	c.(3301-3303)ctC>ctA	p.L1101L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1101						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCTGCAGCTCTGCTCAGTGC	0.642000													62	60					4.09106e-26	4.57008e-26	1	1	0
RP11-556N21.1	0	broad.mit.edu	37	13	25144712	25144712	+	RNA	SNP	A	A	C	rs71218558	by1000genomes	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:25144712A>C	ENST00000453498.1	+	0	253																											TGTGTTTAACACAGCCCCTGC	0.393000													3	19					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24207568	24207568	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:24207568G>C	ENST00000309033.4	+	6	695	c.451G>C	c.(451-453)Gca>Cca	p.A151P	UBXN2A_ENST00000404924.1_Missense_Mutation_p.A151P|UBXN2A_ENST00000535786.1_Intron|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	151										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TGTTTCTAAAGCAAAGAATAT	0.294000													24	39					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807844	86807844	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:86807844C>G	ENST00000441037.2	+	10	1399	c.1304C>G	c.(1303-1305)tCc>tGc	p.S435C	AGBL1_ENST00000421325.2_Missense_Mutation_p.S435C|AGBL1_ENST00000389298.3_Missense_Mutation_p.S166C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	435			S -> P (in dbSNP:rs11857527).		C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S435F(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGAGTGCCTCCTTTTCTAAT	0.448000													62	57					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412960	9412960	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:9412960C>G	ENST00000345094.3	+	4	881	c.547C>G	c.(547-549)Cat>Gat	p.H183D	THUMPD3_ENST00000452837.2_Missense_Mutation_p.H183D|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.H183D	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	183	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTAGATTCTCATATCTTAGA	0.323000													22	65					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057650	1057650	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:1057650C>G	ENST00000264930.5	-	22	3005	c.2962G>C	c.(2962-2964)Gct>Cct	p.A988P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	988					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TACTTCTCAGCGATCAGCTTC	0.612000													43	367					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129905215	129905215	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:129905215G>C	ENST00000368149.2	-	13	1844	c.1756C>G	c.(1756-1758)Ctt>Gtt	p.L586V	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	586					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ACTTTCGAAAGATGGGGAGCT	0.473000													29	14					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150619	117150619	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:117150619G>T	ENST00000369486.3	-	5	1932	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	IGSF3_ENST00000318837.6_Missense_Mutation_p.F389L|IGSF3_ENST00000369483.1_Missense_Mutation_p.F389L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	389						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTTATCAATGAATTCCCCGG	0.512000													44	72					1.7489e-18	1.88796e-18	1	1	0
PARP15	165631	broad.mit.edu	37	3	122335880	122335880	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:122335880C>G	ENST00000464300.2	+	6	935	c.869C>G	c.(868-870)tCt>tGt	p.S290C	PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.S56C|PARP15_ENST00000493645.1_Missense_Mutation_p.S56C|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	268	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGGACTGTCTCTAAGCCTTGT	0.433000													44	183					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123220520	123220520	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:123220520C>A	ENST00000371160.1	+	30	3467	c.3177C>A	c.(3175-3177)gtC>gtA	p.V1059V	STAG2_ENST00000354548.5_Silent_p.V990V|STAG2_ENST00000371145.3_Silent_p.V1059V|STAG2_ENST00000371144.3_Silent_p.V1059V|STAG2_ENST00000218089.9_Silent_p.V1059V|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.V1059V	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1059					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCATGTCAGTCATTAGTGGAA	0.468000													50	0					1.86277e-20	2.03578e-20	1	1	0
JARID2	3720	broad.mit.edu	37	6	15496889	15496889	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:15496889G>A	ENST00000341776.2	+	7	1677	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	JARID2_ENST00000397311.3_Missense_Mutation_p.R306K|JARID2_ENST00000541660.1_Missense_Mutation_p.R440K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	478					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGCCGAGAGAGGTCTGCTG	0.677000													26	20					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256755	32256755	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:32256755G>C	ENST00000360482.2	-	16	3229	c.3100C>G	c.(3100-3102)Caa>Gaa	p.Q1034E	SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q1021E|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.Q514E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1034					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ACCATCTTTTGAACCTTCCCC	0.577000													33	36					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58849556	58849556	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:58849556G>T	ENST00000472469.1	-	11	1505	c.667C>A	c.(667-669)Cta>Ata	p.L223I	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.L316I|C3orf67_ENST00000295966.7_Missense_Mutation_p.L316I|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	316								p.L316fs*4(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CCCAGAAGTAGAGACTGTCTG	0.468000													14	64					9.31168e-06	9.58316e-06	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47045451	47045451	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:47045451G>A	ENST00000450053.3	+	36	6045	c.5866G>A	c.(5866-5868)Gtg>Atg	p.V1956M	NBEAL2_ENST00000383740.2_Missense_Mutation_p.V235M|NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1772M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1956							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CACTGAGCGCGTGGAAACCGA	0.627000													4	144					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17777570	17777570	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:17777570C>G	ENST00000378814.5	-	33	4068	c.4069G>C	c.(4069-4071)Gaa>Caa	p.E1357Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.E1357Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1370Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1370Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1370Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1370					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAAAGTGCTTCTTTGACTGTG	0.443000													8	11					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32866186	32866186	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:32866186G>C	ENST00000452533.2	+	6	664	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DNM1L_ENST00000358214.5_Missense_Mutation_p.R180T|DNM1L_ENST00000266481.6_Missense_Mutation_p.R167T|DNM1L_ENST00000381000.4_Missense_Mutation_p.R180T|DNM1L_ENST00000547312.1_Missense_Mutation_p.R167T|DNM1L_ENST00000553257.1_Missense_Mutation_p.R180T|DNM1L_ENST00000549701.1_Missense_Mutation_p.R167T|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	167	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTCAAATCAGAGAGCTCATT	0.378000													51	57					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204974	22204974	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:22204974C>T	ENST00000374695.3	-	20	2648	c.2569G>A	c.(2569-2571)Gga>Aga	p.G857R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	857	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCTCGTATCCGGGGGCACAG	0.677000													9	12					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132054743	132054743	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:132054743C>G	ENST00000414305.1	+	22	2297	c.1969C>G	c.(1969-1971)Ctg>Gtg	p.L657V	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Missense_Mutation_p.L657V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	657	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CACATCGCCTCTGCCTCCCAC	0.478000													32	70					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415228	88415228	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr4:88415228C>G	ENST00000418378.1	-	5	1295	c.724G>C	c.(724-726)Gat>Cat	p.D242H	SPARCL1_ENST00000282470.6_Missense_Mutation_p.D242H|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D117H	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	242					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TCCAAAATATCATCAGATTGG	0.423000													150	97					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669635	207669635	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:207669635G>T	ENST00000367049.4	+	1	23	c.23G>T	c.(22-24)aGc>aTc	p.S8I	CR1_ENST00000400960.2_Missense_Mutation_p.S8I|CR1_ENST00000367053.1_Missense_Mutation_p.S8I|CR1_ENST00000367051.1_Missense_Mutation_p.S8I|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.S8I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	8					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						TCTCCAAGAAGCCCGGAGCCT	0.592000													3	35					1	1	1	1	0
NRD1	4898	broad.mit.edu	37	1	52303166	52303166	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:52303166C>T	ENST00000354831.7	-	3	946	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Missense_Mutation_p.E121K|NRD1_ENST00000485608.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	196					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AACCTGCTTTCAGCTCCAACT	0.393000													62	97					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495768	161495768	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:161495768C>G	ENST00000309758.4	+	1	1733	c.1320C>G	c.(1318-1320)gtC>gtG	p.V440V	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	440					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCCTGGGGTCTTCATCCAGG	0.592000													27	57					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42701094	42701094	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:42701094G>T	ENST00000457842.3	+	2	1528	c.119G>T	c.(118-120)cGa>cTa	p.R40L	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000232974.6_Missense_Mutation_p.R416L	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GCATCGGCCCGAGGGCCGCCA	0.667000													8	28					0.0381472	0.0383646	1	1	0
GABBR1	2550	broad.mit.edu	37	6	29572739	29572739	+	Silent	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:29572739G>T	ENST00000377034.4	-	21	2801	c.2466C>A	c.(2464-2466)gtC>gtA	p.V822V	GABBR1_ENST00000355973.3_Silent_p.V705V|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.V705V|GABBR1_ENST00000377016.4_Silent_p.V760V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	822					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GAATCATGGTGACAGGAGCAG	0.512000													11	15					3.07112e-06	3.1699e-06	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55445985	55445985	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:55445985G>A	ENST00000446217.1	-	9	2829	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	NLRP7_ENST00000590030.1_Silent_p.F781F|NLRP7_ENST00000592784.1_Silent_p.F781F|NLRP7_ENST00000448121.2_Silent_p.F753F|NLRP7_ENST00000340844.2_Silent_p.F781F|NLRP7_ENST00000328092.5_Silent_p.F753F|NLRP7_ENST00000588756.1_Silent_p.F781F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	781							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGACATAGAAGAATTCAGCCC	0.527000													44	32					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29834846	29834846	+	Silent	SNP	C	C	T	rs61734572		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:29834846C>T	ENST00000354373.2	+	1	275	c.66C>T	c.(64-66)tgC>tgT	p.C22C	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	22							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCCCTTGTGCACTTTTCCCC	0.478000													5	179					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													8	241					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39494364	39494364	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:39494364G>C	ENST00000263881.3	-	27	2322	c.1998C>G	c.(1996-1998)atC>atG	p.I666M	MAP4K3_ENST00000536018.1_Missense_Mutation_p.I219M|MAP4K3_ENST00000437545.1_Missense_Mutation_p.I582M|MAP4K3_ENST00000341681.5_Missense_Mutation_p.I645M	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	666	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGGTTTCAGGGATTTTTGCTG	0.343000													83	56					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059828	40059828	+	Silent	SNP	G	G	A	rs58500586	by1000genomes	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:40059828G>A	ENST00000336649.4	+	22	3597	c.3597G>A	c.(3595-3597)caG>caA	p.Q1199Q	CACNA1I_ENST00000400164.3_Silent_p.Q1158Q|CACNA1I_ENST00000401624.1_Silent_p.Q1193Q|CACNA1I_ENST00000404898.1_Silent_p.Q1158Q|CACNA1I_ENST00000407673.1_Silent_p.Q1158Q|CACNA1I_ENST00000402142.3_Silent_p.Q1193Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1193					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCGGCCTCAGATCGAGGCCG	0.622000													90	74					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581329	82581329	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr7:82581329C>T	ENST00000333891.9	-	5	9277	c.8940G>A	c.(8938-8940)ggG>ggA	p.G2980G	PCLO_ENST00000423517.2_Silent_p.G2980G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						AACCATATGGCCCTGATCGAT	0.433000													60	189					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890811	67890811	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:67890811G>C	ENST00000370994.4	-	3	674	c.560C>G	c.(559-561)tCt>tGt	p.S187C	SERBP1_ENST00000361219.6_Missense_Mutation_p.S187C|SERBP1_ENST00000370990.5_Missense_Mutation_p.S187C|SERBP1_ENST00000370995.2_Missense_Mutation_p.S187C	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	187					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TTTGCCACGAGAATCAAATCC	0.413000													41	33					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336708	42336708	+	Silent	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:42336708G>A	ENST00000262418.6	-	9	854	c.699C>T	c.(697-699)cgC>cgT	p.R233R	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	233					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAAGTCGGCGCGGCCTGTTA	0.662000													36	15					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79891180	79891180	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr17:79891180C>T	ENST00000329875.8	-	7	934	c.870G>A	c.(868-870)gtG>gtA	p.V290V	PYCR1_ENST00000403172.4_Silent_p.V259V|PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000577756.1_3'UTR|PYCR1_ENST00000402252.2_Silent_p.V317V	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	290					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	AGTCCAGCTTCACCTTGTCCA	0.632000													12	26					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346669	11346669	+	Silent	SNP	G	G	A	rs140702980		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr5:11346669G>A	ENST00000304623.8	-	9	1632	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	CTNND2_ENST00000511377.1_Silent_p.A390A|CTNND2_ENST00000359640.2_Silent_p.A481A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A144A|CTNND2_ENST00000458100.2_Silent_p.A48A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	481					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCGCGGCGGCATTCTGTG	0.622000													138	20					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418653	54418653	+	Silent	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:54418653C>T	ENST00000391767.1	+	4	530	c.318C>T	c.(316-318)gtC>gtT	p.V106V	CACNG7_ENST00000222212.2_Silent_p.V106V|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.V106V			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	106					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V106V(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCCCCATGGTCAGCCTCTTCC	0.602000													31	44					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66458798	66458798	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:66458798G>A	ENST00000423207.2	+	1	694	c.209G>A	c.(208-210)cGt>cAt	p.R70H	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	180					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATTCGGCAGCGTCGTCGCTTC	0.448000													43	40					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609472	42609472	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:42609472T>A	ENST00000359486.3	-	1	1976	c.1840A>T	c.(1840-1842)Aca>Tca	p.T614S	TCF20_ENST00000335626.4_Missense_Mutation_p.T614S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACCCGACCTGTCATGGCTTCC	0.547000													4	165					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43531166	43531166	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr18:43531166G>C	ENST00000282041.5	-	4	1325	c.1291C>G	c.(1291-1293)Caa>Gaa	p.Q431E		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	431					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCCTTTAGTTGACACAGATCA	0.368000													35	31					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17557171	17557171	+	Silent	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:17557171C>A	ENST00000375471.4	+	10	1250	c.1158C>A	c.(1156-1158)atC>atA	p.I386I		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	386					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATAAGAGGATCCTGGTACGTA	0.552000													4	11					0.00909568	0.00919993	1	1	0
GTPBP2	54676	broad.mit.edu	37	6	43593257	43593257	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:43593257G>C	ENST00000307126.5	-	5	547	c.548C>G	c.(547-549)tCt>tGt	p.S183C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.S95C	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	183							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGACTTCCCAGAGTCCACATT	0.567000													37	31					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37639029	37639029	+	Silent	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr20:37639029C>G	ENST00000252011.3	+	13	1362	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	DHX35_ENST00000373323.4_Silent_p.L412L|DHX35_ENST00000373325.2_Silent_p.L443L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	443						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ACAATGTCCTCAGGTTCCACT	0.537000													60	32					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113596765	113596765	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:113596765G>A	ENST00000314045.7	-	20	2593	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000306014.5_Missense_Mutation_p.R855C|CCDC42B_ENST00000335621.6_3'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	855					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACGCGGCGGCGGTTGCGGGCA	0.677000													11	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56484247	56484247	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:56484247G>A	ENST00000370765.6	-	23	4692	c.4585C>T	c.(4585-4587)Cat>Tat	p.H1529Y	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5206					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTTAGATGATCTGATTTT	0.303000													50	58					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671698	160671698	+	Silent	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:160671698G>C	ENST00000366952.1	-	5	1973	c.492C>G	c.(490-492)ctC>ctG	p.L164L	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.L185L			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	185					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGCATTTATGAGGACTGTAG	0.428000													25	49					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44660861	44660861	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:44660861C>T	ENST00000426739.2	+	6	950	c.692C>T	c.(691-693)cCa>cTa	p.P231L	ZNF234_ENST00000592437.1_Missense_Mutation_p.P231L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTAGAGAAACCATTCAAATGT	0.413000													61	238					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044008	47044008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:47044008C>T	ENST00000450053.3	+	32	5478	c.5299C>T	c.(5299-5301)Cag>Tag	p.Q1767*	NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.Q46*|NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.Q1583*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1767							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGGGCCTTCCAGGTGTGCCA	0.607000													11	43					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563260	129563260	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr12:129563260G>T	ENST00000422113.2	-	8	2260	c.1934C>A	c.(1933-1935)cCt>cAt	p.P645H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.P183H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	645						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCTGACAGAGGAGACAGGAT	0.572000													25	61					6.32553e-13	6.70544e-13	1	1	0
CDH23	64072	broad.mit.edu	37	10	73206112	73206112	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr10:73206112C>A	ENST00000224721.6	+	2	110	c.105C>A	c.(103-105)ttC>ttA	p.F35L	CDH23_ENST00000398809.4_Missense_Mutation_p.F35L|CDH23_ENST00000398842.3_Missense_Mutation_p.F35L|CDH23_ENST00000299366.7_Missense_Mutation_p.F80L|CDH23_ENST00000461841.3_Missense_Mutation_p.F80L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	35	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.F35L(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAACCACTTCTTTGATACAT	0.577000													46	26					4.29476e-34	4.84361e-34	1	1	0
EFHC2	80258	broad.mit.edu	37	X	44091782	44091782	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chrX:44091782C>T	ENST00000420999.1	-	10	1648	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	522	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ATTGAGCAAACGAAATAGGTA	0.403000													4	8					0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	299405	299405	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:299405G>A	ENST00000382614.2	-	1	121	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	29					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGGGGGTGCGGGGCCCCCAG	0.677000													7	0					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19453410	19453410	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:19453410G>A	ENST00000262815.8	+	8	841	c.802G>A	c.(802-804)Gat>Aat	p.D268N	MAU2_ENST00000392313.6_Missense_Mutation_p.D268N			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	268					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CACACTGCACGATGATGAGAT	0.612000											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	83	65					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967232	106967232	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:106967232C>G	ENST00000369066.3	+	2	1412	c.925C>G	c.(925-927)Ctg>Gtg	p.L309V		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	309							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGGGCAAAGCTGAATTTAGC	0.428000													14	38					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79942973	79942973	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:79942973G>C	ENST00000438737.2	-	6	1227	c.787C>G	c.(787-789)Cat>Gat	p.H263D	RBM26_ENST00000267229.7_Missense_Mutation_p.H263D|RBM26_ENST00000438724.1_Missense_Mutation_p.H263D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	263					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGTTTCCATGATGAGTAGGA	0.418000													27	98					0	0	1	0	0
LOC102723924	102723924	broad.mit.edu	37	1	41730645	41730645	+	RNA	DEL	T	T	-	rs35691145		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:41730645delT	ENST00000445073.1	+	0	132																											TCTGAGCTGCttttttttttt	0.473													2	4	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151315210	151315211	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:151315210_151315211delCA	ENST00000290524.4	-	11	1480_1481	c.1302_1303delTG	c.(1300-1305)gctgaafs	p.E435fs	RFX5_ENST00000452671.2_Frame_Shift_Del_p.E435fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.E395fs|RFX5_ENST00000368870.2_Frame_Shift_Del_p.E435fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	435						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGGTACTTCAGCTGTCCTCT	0.569													84	283	---	---	---	---					
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													5	6	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201982128	201982129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr1:201982128_201982129insA	ENST00000359651.3	+	5	3844_3845	c.652_653insA	c.(652-654)gacfs	p.D218fs	ELF3_ENST00000367283.3_Frame_Shift_Ins_p.D218fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.D218fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	218					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGTGACGTGGACCTGGATCCC	0.653													20	19	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													3	5	---	---	---	---					
DOCK3	1795	broad.mit.edu	37	3	51101936	51101940	+	Frame_Shift_Del	DEL	CTGCG	CTGCG	-			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr3:51101936_51101940delCTGCG	ENST00000266037.9	+	6	396_400	c.373_377delCTGCG	c.(373-378)ctgcgafs	p.LR125fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	125						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACTTATTGACCTGCGAAGGCAGCTA	0.463													22	121	---	---	---	---					
MBOAT1	154141	broad.mit.edu	37	6	20126743	20126769	+	Splice_Site	DEL	CTTACTGTGGGAGAAGGTTCTGGCAAG	CTTACTGTGGGAGAAGGTTCTGGCAAG	-	rs148711305		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:20126743_20126769delCTTACTGTGGGAGAAGGTTCTGGCAAG	ENST00000541730.1	-	6	841_863	c.246_268delCTTGCCAGAACCTTCTCCCACAGTAAG	c.(244-270)agcttgccagaaccttctcccacagta>agta	p.LPEPSPTV83del	MBOAT1_ENST00000324607.7_Splice_Site_p.LPEPSPTV232del|MBOAT1_ENST00000536798.1_Splice_Site_p.LPEPSPTV232del			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	232					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACACTAAAAACTTACTGTGGGAGAAGGTTCTGGCAAGCTGTGGAAAC	0.427													17	184	---	---	---	---					
HIST1H1B	3009	broad.mit.edu	37	6	27834656	27834656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:27834656delC	ENST00000331442.3	-	1	703	c.652delG	c.(652-654)gccfs	p.A218fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	218				Missing (in Ref. 5; AA sequence).	nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCTTCTTGGCCTTTGCAGCT	0.527													15	53	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)gaafs	p.E850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.E851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													8	178	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													8	20	---	---	---	---					
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-	rs3830296		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr11:69465988_69465990delGAG	ENST00000227507.2	+	5	1053_1055	c.826_828delGAG	c.(826-828)gagdel	p.E280del		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			8	567	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	7	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													7	9	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11049667	11049668	+	RNA	INS	-	-	T			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr21:11049667_11049668insT	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGAATTTAAATTTTTTCTGAC	0.337													10	168	---	---	---	---					
GUSBP11	91316	broad.mit.edu	37	22	23991796	23991797	+	RNA	DEL	TT	TT	-			TCGA-KQ-A41O-01A-12D-A34U-08	TCGA-KQ-A41O-10D-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c173b9-4165-46f3-a0ed-2430d2455cbc	9d085246-323c-4b6a-be65-076ae886cba3	g.chr22:23991796_23991797delTT	ENST00000455485.1	-	0	3360																											CTGCACCCTGtttttttttttt	0.510													2	4	---	---	---	---