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
GPR88	54112	broad.mit.edu	37	1	101005559	101005559	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:101005559C>A	ENST00000315033.4	+	2	1476	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	346						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCCGCCGCTCCGTGCGCTCA	0.741000													3	0					0.00024832	0.00293319	0.00024832	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													5	118					0	0	3.59834e-05	0	0
PIF1	80119	broad.mit.edu	37	15	65114716	65114716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:65114716C>T	ENST00000268043.4	-	3	746	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	PIF1_ENST00000559239.1_Missense_Mutation_p.V218I|PIF1_ENST00000333425.6_Missense_Mutation_p.V218I			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	218	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCTTTCAGGACGGCCCTCAGC	0.622000													11	30					0	0	0.00010058	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599754	161599754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:161599754G>C	ENST00000294800.3	-	3	406	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	45	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532000													31	308					0	0	0.00058488	0	0
ARF5	381	broad.mit.edu	37	7	127231016	127231016	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:127231016G>A	ENST00000000233.5	+	5	484		c.e5-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TCCTCTCTCAGCTGCAGGAGG	0.547000													20	83					0	0	0.000375601	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587364	15587364	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587364C>T	ENST00000292609.4	-	2	246	c.117G>A	c.(115-117)caG>caA	p.Q39Q	PGLYRP2_ENST00000340880.4_Silent_p.Q39Q			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	39					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGGCACTTTCTGCTCCAGCT	0.602000													4	25					0	0	0.000602214	0	0
LAMC3	10319	broad.mit.edu	37	9	133945103	133945103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:133945103G>A	ENST00000361069.4	+	17	3068	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	979	Laminin EGF-like 11.			E -> Y (in Ref. 1; AAD36991).	cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTGCCACGAGAACGGCAC	0.662000													14	13					0	0	0.000151284	0	0
RABL2A	11159	broad.mit.edu	37	2	114399705	114399705	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:114399705G>A	ENST00000409875.1	+	10	1018	c.716G>A	c.(715-717)tGa>tAa	p.*239*	RABL2A_ENST00000393166.3_Silent_p.*229*|RABL2A_ENST00000376439.3_Silent_p.*166*|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409842.1_Silent_p.*166*|RABL2A_ENST00000393165.3_Silent_p.*230*|RABL2A_ENST00000393167.3_Silent_p.*229*			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	0					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCCACAGCTGAGGGGCTGGG	0.572000													12	41					0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9059205	9059205	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:9059205C>T	ENST00000397910.4	-	3	28444	c.28241G>A	c.(28240-28242)aGa>aAa	p.R9414K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9416	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGGACCTCTGCTCATAGG	0.512000													47	100					0	0	0.000781405	0	0
RPL10L	140801	broad.mit.edu	37	14	47120421	47120421	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:47120421G>A	ENST00000298283.3	-	1	607	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	173					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TAAACTTCGTGAAGCCCCACT	0.512000													59	58					0	0	0.000781405	0	0
TTC37	9652	broad.mit.edu	37	5	94876439	94876439	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:94876439G>A	ENST00000358746.2	-	8	796	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	166							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTCAGCCAGGAACTGAGTCA	0.373000													28	70					0	0	0.00106085	0	0
PSMC2	5701	broad.mit.edu	37	7	102988224	102988224	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102988224C>T	ENST00000435765.1	+	2	477	c.66C>T	c.(64-66)atC>atT	p.I22I	PSMC2_ENST00000292644.3_Silent_p.I22I|PSMC2_ENST00000544811.1_5'UTR	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	22					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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACAAGCCCATCCGAGGTCAGT	0.597000													16	64					0	0	0.000958276	0	0
SHISA5	51246	broad.mit.edu	37	3	48510922	48510922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:48510922G>A	ENST00000296444.2	-	5	817	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	SHISA5_ENST00000426002.1_Nonsense_Mutation_p.Q58*|SHISA5_ENST00000442747.1_Nonsense_Mutation_p.Q130*|SHISA5_ENST00000443308.2_Nonsense_Mutation_p.Q154*|SHISA5_ENST00000444115.1_Nonsense_Mutation_p.Q130*|SHISA5_ENST00000465449.1_5'UTR	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	161	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	p.Q161*(1)		large_intestine(1)|lung(1)	2						CTTGGAGGCTGAGGATAAGGG	0.602000													7	39					0	0	0.000157383	0	0
NRG1	3084	broad.mit.edu	37	8	31498021	31498021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:31498021G>A	ENST00000520407.1	+	1	751	c.521G>A	c.(520-522)gGc>gAc	p.G174D	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAGCCGGGGGCTTGAAGAAG	0.706000													4	16					0	0	0.000602214	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467662	51467662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:51467662G>A	ENST00000228515.1	-	3	652	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	119					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGAATCTCTCGATGGTTCACC	0.532000													52	93					0	0	0.000781405	0	0
NAB1	4664	broad.mit.edu	37	2	191524441	191524441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:191524441C>T	ENST00000337386.5	+	4	1000	c.539C>T	c.(538-540)tCc>tTc	p.S180F	NAB1_ENST00000357215.5_Missense_Mutation_p.S180F|NAB1_ENST00000409641.1_Missense_Mutation_p.S180F|NAB1_ENST00000409581.1_Missense_Mutation_p.S180F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	180					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GACCTGGGCTCCCCCGCGTCC	0.632000													6	13					0	0	3.59834e-05	0	0
UBR1	197131	broad.mit.edu	37	15	43360220	43360220	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43360220C>G	ENST00000290650.4	-	6	752	c.674G>C	c.(673-675)aGa>aCa	p.R225T	UBR1_ENST00000382177.2_Missense_Mutation_p.R225T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	225					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAATAGTATCTTTCATTTTT	0.318000													23	93					0	0	0.000184323	0	0
PARP6	56965	broad.mit.edu	37	15	72533823	72533823	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:72533823C>T	ENST00000569795.1	-	24	2553	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.V622V|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	622							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAGTTCCGATCACACGCATGA	0.517000													15	33					0	0	0.000566183	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676624	44676624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44676624G>A	ENST00000243964.3	+	16	2010	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	SLC12A5_ENST00000454036.2_Missense_Mutation_p.E661K	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	661					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCAGGGCAGAGAAGGAGTG	0.617000													8	8					0	0	0.000157383	0	0
PLD1	5337	broad.mit.edu	37	3	171455826	171455826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:171455826C>T	ENST00000356327.5	-	2	86	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PLD1_ENST00000351298.4_Missense_Mutation_p.E6K|PLD1_ENST00000340989.4_Missense_Mutation_p.E6K|PLD1_ENST00000342215.6_Missense_Mutation_p.E6K	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	6					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCCGTGGCTCGTTTTTCAGT	0.413000													16	75					0	0	0.000566183	0	0
SCN4B	6330	broad.mit.edu	37	11	118023348	118023348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:118023348C>T	ENST00000324727.4	-	1	187	c.41G>A	c.(40-42)tGg>tAg	p.W14*	SCN4B_ENST00000529878.1_Nonsense_Mutation_p.W14*	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	14						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AGTGCCCAGCCATCTCGCCGG	0.662000													8	19					0	0	0.000673444	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103152912	103152912	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:103152912G>T	ENST00000375735.2	+	72	10910	c.10766G>T	c.(10765-10767)tGg>tTg	p.W3589L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3596L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3589					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATAGGAATGGGATACGTTT	0.284000													13	83					5.01169e-05	0.000598912	0.000566183	1	0
SPTY2D1	144108	broad.mit.edu	37	11	18637037	18637037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:18637037C>T	ENST00000336349.5	-	3	1019	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	262										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GATTTCTTCTCAGCATGAGGA	0.483000													50	33					0	0	0.000781405	0	0
PEX12	5193	broad.mit.edu	37	17	33902981	33902981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33902981C>T	ENST00000225873.4	-	3	1507	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	300					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACACAGTCTTCATTTTGGGTA	0.458000													24	98					0	0	0.000375601	0	0
OR2G2	81470	broad.mit.edu	37	1	247752614	247752614	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752614G>C	ENST00000320065.1	+	1	953	c.953G>C	c.(952-954)tGa>tCa	p.*318S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			aatattttatgattattaaaa	0.323000													5	47					0	0	0.000602214	0	0
MTHFR	4524	broad.mit.edu	37	1	11854538	11854538	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:11854538C>G	ENST00000376592.1	-	7	1352	c.1224G>C	c.(1222-1224)ctG>ctC	p.L408L	MTHFR_ENST00000376585.1_Silent_p.L449L|MTHFR_ENST00000376583.3_Silent_p.L449L|MTHFR_ENST00000376590.3_Silent_p.L408L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	408					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACTTGCTCTTCAGGTAGAAGA	0.562000													18	106					0	0	0.000229342	0	0
TICRR	90381	broad.mit.edu	37	15	90169198	90169198	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:90169198G>C	ENST00000268138.7	+	21	5613	c.5508G>C	c.(5506-5508)cgG>cgC	p.R1836R	TICRR_ENST00000560985.1_Silent_p.R1835R|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		GTGCCGTGCGGAGCTGCCTCT	0.617000													16	32					0	0	0.000422831	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944170	41944170	+	Silent	SNP	C	C	T	rs118187504	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41944170C>T	ENST00000221943.9	-	2	173	c.168G>A	c.(166-168)agG>agA	p.R56R	ATP5SL_ENST00000589970.1_Silent_p.R56R|ATP5SL_ENST00000438807.3_Silent_p.R56R|ATP5SL_ENST00000417807.3_Silent_p.R62R|ATP5SL_ENST00000592922.2_Silent_p.R56R|ATP5SL_ENST00000301183.11_Silent_p.R62R|ATP5SL_ENST00000590641.2_Silent_p.R62R|ATP5SL_ENST00000595425.1_Silent_p.R56R|ATP5SL_ENST00000597457.1_Silent_p.R56R	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	56										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCAAGTAATCCCTCAGAGCCT	0.537000													53	140					0	0	0.000781405	0	0
GBAP1	2630	broad.mit.edu	37	1	155188185	155188185	+	RNA	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:155188185G>C	ENST00000486869.1	-	0	181					NR_002188.2																						TCACTCATCTGATGCCCACGA	0.527000													61	154					0	0	0.000781405	0	0
FAM160B1	57700	broad.mit.edu	37	10	116602895	116602895	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602895C>T	ENST00000369248.4	+	6	1061	c.726C>T	c.(724-726)ctC>ctT	p.L242L	FAM160B1_ENST00000369250.3_Silent_p.L242L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	242										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGGATAACCTCAGTGTCACCT	0.438000													20	72					0	0	0.000175454	0	0
RAD50	10111	broad.mit.edu	37	5	131927031	131927031	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:131927031A>G	ENST00000378823.3	+	10	1969	c.1151A>G	c.(1150-1152)cAg>cGg	p.Q384R	RAD50_ENST00000265335.6_Missense_Mutation_p.Q523R	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	523					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTGACCAGGAGATGGAG	0.368000								Homologous recombination					3	47					0	0	6.4e-05	0	0
TRERF1	55809	broad.mit.edu	37	6	42224512	42224512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224512G>A	ENST00000541110.1	-	12	3162	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	TRERF1_ENST00000340840.2_Missense_Mutation_p.S762F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S762F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S762F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S845F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	845	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAAATTCAGAATTGGTCCC	0.443000													54	38					0	0	0.000781405	0	0
KCTD7	154881	broad.mit.edu	37	7	66270179	66270179	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:66270179C>T	ENST00000380828.2	+	10	1147	c.993C>T	c.(991-993)atC>atT	p.I331I	RABGEF1_ENST00000439720.2_Silent_p.I304I|RABGEF1_ENST00000284957.5_Silent_p.I291I|RABGEF1_ENST00000437078.2_Silent_p.I305I|KCTD7_ENST00000510829.2_Silent_p.I291I|KCTD7_ENST00000451741.2_Silent_p.I291I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Silent_p.I291I			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	264						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGGCCTGCATCACCAAGTGCA	0.458000													14	61					0	0	0.000219431	0	0
THOC2	57187	broad.mit.edu	37	X	122756965	122756965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:122756965C>T	ENST00000245838.8	-	29	3704	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K	THOC2_ENST00000355725.4_Missense_Mutation_p.E1225K|THOC2_ENST00000491737.1_Missense_Mutation_p.E1110K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1225					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAGTCTCCTCAGTACTGCTT	0.403000													24	93					0	0	0.000375601	0	0
CNOT1	23019	broad.mit.edu	37	16	58572154	58572154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:58572154G>A	ENST00000317147.5	-	37	5484	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	CNOT1_ENST00000245138.4_Nonsense_Mutation_p.R569*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.R1713*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1718					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATTCATCTCGACATTCAATT	0.373000													16	45					0	0	0.000422831	0	0
DYX1C1	161582	broad.mit.edu	37	15	55790547	55790547	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790547G>C	ENST00000321149.3	-	0	348				DYX1C1_ENST00000457155.2_De_novo_Start_OutOfFrame|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_De_novo_Start_OutOfFrame|DYX1C1_ENST00000380679.1_De_novo_Start_OutOfFrame	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1						neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AACGGGAGCGGATAGCGCGGC	0.632000													3	20					0	0	6.4e-05	0	0
CBLC	23624	broad.mit.edu	37	19	45296769	45296769	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:45296769G>A	ENST00000270279.3	+	8	1239	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CBLC_ENST00000341505.4_Silent_p.E346E	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	392					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCCGCTGCGAGATCAAGGGCT	0.637000			M		AML								8	15					0	0	0.000442599	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042706	193042706	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:193042706C>A	ENST00000342358.4	-	14	1738	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	541					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGATGGTCCCATTGAGAAGG	0.537000													11	390					0.000673444	0.0078415	0.000673444	1	0
UROS	7390	broad.mit.edu	37	10	127505020	127505020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:127505020C>G	ENST00000368778.3	-	2	242	c.49G>C	c.(49-51)Gat>Cat	p.D17H	UROS_ENST00000368797.4_Missense_Mutation_p.D17H|UROS_ENST00000368786.1_Missense_Mutation_p.D17H|UROS_ENST00000368774.1_Missense_Mutation_p.D17H			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATATACGGATCCTGGCCACAG	0.502000													17	91					0	0	0.000566183	0	0
USP6	9098	broad.mit.edu	37	17	5041030	5041030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:5041030C>G	ENST00000574788.1	+	20	3140	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	USP6_ENST00000332776.4_Missense_Mutation_p.L304V|USP6_ENST00000250066.6_Missense_Mutation_p.L304V|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	304					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCATTGCTCTTAAGGTTCA	0.587000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								58	41					0	0	0.000781405	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587202	15587202	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587202C>G	ENST00000292609.4	-	2	408	c.279G>C	c.(277-279)ctG>ctC	p.L93L	PGLYRP2_ENST00000340880.4_Silent_p.L93L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	93					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTCCTTGGTCAGGCCTAACA	0.617000													8	58					0	0	0.000274275	0	0
OR2G2	81470	broad.mit.edu	37	1	247752580	247752580	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752580G>T	ENST00000320065.1	+	1	919	c.919G>T	c.(919-921)Gtt>Ttt	p.V307F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTAAAGAAAGTTCTAGCAAA	0.343000													32	117					2.08457e-15	2.62952e-14	0.000339439	1	0
PTPRD	5789	broad.mit.edu	37	9	8500790	8500790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:8500790C>T	ENST00000381196.4	-	21	2635	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E685K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E685K|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.E698K|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E698K|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	698	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACAAGCTCTCAGGGCCAGGG	0.483000										TSP Lung(15;0.13)			40	43					0	0	0.000437636	0	0
SCN3A	6328	broad.mit.edu	37	2	165952024	165952024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:165952024C>G	ENST00000360093.3	-	25	4919	c.4428G>C	c.(4426-4428)aaG>aaC	p.K1476N	SCN3A_ENST00000409101.3_Missense_Mutation_p.K1427N|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1476N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1476						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACTTATCTTCTTTTTCTGCT	0.338000													13	53					0	0	0.000151284	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675662	54675662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:54675662G>A	ENST00000546500.1	+	3	831	c.216G>A	c.(214-216)atG>atA	p.M72I	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.M72I|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.M72I|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.M72I|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	72	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.M72I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATGCAGCTATGAATGCAAGGC	0.463000													18	39					0	0	0.00074312	0	0
CTSA	5476	broad.mit.edu	37	20	44520016	44520016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44520016G>C	ENST00000372484.3	+	1	334	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CTSA_ENST00000372459.2_5'UTR|CTSA_ENST00000354880.5_Missense_Mutation_p.E18Q|CTSA_ENST00000191018.5_5'UTR	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	0					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CGGGGGAGCAGAGGTGAGCTG	0.711000													3	7					0	0	0.00024832	0	0
FGF13	2258	broad.mit.edu	37	X	137939732	137939732	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:137939732G>A	ENST00000441825.2	-	1	109	c.72C>T	c.(70-72)caC>caT	p.H24H	FGF13_ENST00000370603.3_Silent_p.H53H|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.H53H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGAAGATTTCGTGACACTTAG	0.478000													65	149					0	0	0.000781405	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341620	151341620	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341620G>C	ENST00000435071.1	-	4	490	c.28C>G	c.(28-30)Cac>Gac	p.H10D	SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000426705.2_Missense_Mutation_p.H116D|SELENBP1_ENST00000368868.5_Missense_Mutation_p.H74D|SELENBP1_ENST00000473693.1_5'UTR			Q13228	SBP1_HUMAN	selenium binding protein 1	74					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CATCCTGAGTGATGCAGCTCG	0.607000													32	74					0	0	0.00058488	0	0
CD226	10666	broad.mit.edu	37	18	67614163	67614163	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67614163G>T	ENST00000280200.4	-	3	457	c.189C>A	c.(187-189)ttC>ttA	p.F63L	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.F63L|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	63	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGTAGGGCTGAAAATGGCTA	0.453000													28	22					1.75199e-13	2.18971e-12	0.000184323	1	0
KRT75	9119	broad.mit.edu	37	12	52822425	52822425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52822425C>T	ENST00000252245.5	-	6	1358	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	380	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGTCAATCTCAGCTCTCAGC	0.507000													11	54					0	0	0.00010058	0	0
ADAM10	102	broad.mit.edu	37	15	58919991	58919991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:58919991G>A	ENST00000260408.3	-	10	1711	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.S122F|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	423	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTGTCCCCAGATGTTGCTCT	0.353000													22	66					0	0	0.000295444	0	0
ADD1	118	broad.mit.edu	37	4	2916622	2916622	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:2916622G>C	ENST00000355842.3	+	15	2573	c.1710G>C	c.(1708-1710)gtG>gtC	p.V570V	ADD1_ENST00000398123.2_Silent_p.V570V|ADD1_ENST00000446856.1_Silent_p.V539V|ADD1_ENST00000513328.2_Silent_p.V539V|ADD1_ENST00000503455.2_Silent_p.V570V|ADD1_ENST00000264758.7_Silent_p.V570V|ADD1_ENST00000398129.1_Silent_p.V539V|ADD1_ENST00000398125.1_Silent_p.V570V			P35611	ADDA_HUMAN	adducin 1 (alpha)	539					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAGCTGGTGACGGCCTCCA	0.647000													3	78					0	0	6.4e-05	0	0
MKS1	54903	broad.mit.edu	37	17	56288082	56288082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:56288082G>A	ENST00000393119.2	-	11	1036	c.962C>T	c.(961-963)tCa>tTa	p.S321L	MKS1_ENST00000537529.2_Missense_Mutation_p.S311L|MKS1_ENST00000337050.7_Missense_Mutation_p.S321L|MKS1_ENST00000313863.6_Missense_Mutation_p.S321L|MKS1_ENST00000546108.1_Missense_Mutation_p.S118L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	321	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCTTGGGCTGAAACTACGAG	0.438000													29	59					0	0	0.000279167	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115948	15115948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:15115948G>A	ENST00000253699.3	-	14	2309	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R566C	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	566	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGTGGGTGCGAGGCTCTCTG	0.567000													9	32					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103198485	103198485	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:103198485C>T	ENST00000428762.1	-	37	5700	c.5541G>A	c.(5539-5541)agG>agA	p.R1847R	RELN_ENST00000343529.5_Silent_p.R1847R|RELN_ENST00000424685.2_Silent_p.R1847R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1847					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAATAAGCATCCTTAGTCCTT	0.284000													20	46					0	0	0.000295444	0	0
DNAJC11	55735	broad.mit.edu	37	1	6704689	6704689	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:6704689C>T	ENST00000377577.5	-	10	1149	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Silent_p.K342K|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.K304K|DNAJC11_ENST00000377573.5_Silent_p.K252K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	342					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGAGATCTTCCTCTCAG	0.552000													30	52					0	0	0.000491102	0	0
DBF4B	80174	broad.mit.edu	37	17	42828543	42828543	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42828543C>T	ENST00000315005.3	+	14	1908	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	590					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTGGACATCTCTGCCAGGCCA	0.552000													46	42					0	0	0.000781405	0	0
SPI1	6688	broad.mit.edu	37	11	47397226	47397226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:47397226C>T	ENST00000378538.3	-	2	322	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.E35K|SPI1_ENST00000533968.1_Missense_Mutation_p.E34K	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	34					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGGTAATACTCGTGCGTTTGG	0.622000													44	36					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38810677	38810677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:38810677G>C	ENST00000359357.3	+	33	4446	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1615Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1398Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATGATATTGAGGTACATAA	0.353000													105	33					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137591828	137591828	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:137591828C>T	ENST00000371817.3	+	3	765	c.351C>T	c.(349-351)gtC>gtT	p.V117V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	117	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTTCCTGGTCTCCATCTACA	0.587000													13	83					0	0	0.000151284	0	0
PUS7	54517	broad.mit.edu	37	7	105098242	105098242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:105098242G>A	ENST00000356362.2	-	16	2195	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	PUS7_ENST00000469408.1_Missense_Mutation_p.R661C	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	661					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.R661C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACTGCTCAGCGAAGCCAGGTT	0.448000													67	323					0	0	0.000781405	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228147	43228147	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43228147C>G	ENST00000236040.4	-	2	506		c.e2-1		LEPRE1_ENST00000296388.5_Splice_Site|LEPRE1_ENST00000397054.3_Splice_Site	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTTGTTGATCTAAGAATGAA	0.463000													48	95					0	0	0.000781405	0	0
ZNF611	81856	broad.mit.edu	37	19	53209076	53209076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:53209076G>C	ENST00000543227.1	-	6	1506	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	ZNF611_ENST00000595798.1_Nonsense_Mutation_p.S342*|ZNF611_ENST00000540744.1_Nonsense_Mutation_p.S411*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.S342*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.S342*|ZNF611_ENST00000319783.1_Nonsense_Mutation_p.S411*	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGCCAGCTGTGAATGCCACGT	0.403000													52	82					0	0	0.000781405	0	0
POLR1D	51082	broad.mit.edu	37	13	28239829	28239829	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:28239829G>A	ENST00000399697.3	+	3	226	c.108G>A	c.(106-108)aaG>aaA	p.K36K	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCAGGATGAAGTGTCCTCTTG	0.403000													15	37					0	0	0.000422831	0	0
ASMTL	8623	broad.mit.edu	37	X	1540663	1540663	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:1540663A>G	ENST00000534940.1	-	9	1184	c.959T>C	c.(958-960)aTg>aCg	p.M320T	ASMTL_ENST00000416733.2_Missense_Mutation_p.M302T|ASMTL_ENST00000381333.4_Missense_Mutation_p.M362T|ASMTL_ENST00000381317.3_Missense_Mutation_p.M378T	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	378	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTATTGTGCATGATGAAGCC	0.522000													11	522					0	0	0.000673444	0	0
MLST8	64223	broad.mit.edu	37	16	2256193	2256193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2256193G>A	ENST00000569417.1	+	2	461	c.107G>A	c.(106-108)cGg>cAg	p.R36Q	MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Missense_Mutation_p.R36Q|MLST8_ENST00000564088.1_Missense_Mutation_p.R36Q|MLST8_ENST00000565250.1_Missense_Mutation_p.R36Q|MLST8_ENST00000301725.7_Missense_Mutation_p.R55Q|MLST8_ENST00000397124.1_Missense_Mutation_p.R36Q|MLST8_ENST00000301724.10_Missense_Mutation_p.R36Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	36					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						ATCTGCACCCGGACGGTGCAG	0.701000													16	46					0	0	0.000422831	0	0
CASP3	836	broad.mit.edu	37	4	185552257	185552257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:185552257C>G	ENST00000308394.4	-	7	800	c.538G>C	c.(538-540)Gat>Cat	p.D180H	CASP3_ENST00000523916.1_Missense_Mutation_p.D180H|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000517513.1_Intron|CASP3_ENST00000393588.4_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	180					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GCCATGTCATCATCAACACCA	0.418000													21	39					0	0	0.000720815	0	0
GRAP2	9402	broad.mit.edu	37	22	40343185	40343185	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:40343185G>C	ENST00000344138.4	+	2	338	c.75G>C	c.(73-75)ttG>ttC	p.L25F	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.L25F|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.L25F	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	25	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGATGTTTTGAAGGTAGGTG	0.483000													55	70					0	0	0.000781405	0	0
CREBBP	1387	broad.mit.edu	37	16	3828129	3828129	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:3828129C>G	ENST00000262367.5	-	10	2805	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.E628Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	666	KIX.				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)		CGTTTTTCTTCTAGTTCTTTT	0.403000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						104	64					0	0	0.000781405	0	0
PRRG3	79057	broad.mit.edu	37	X	150869180	150869180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:150869180G>A	ENST00000370353.3	+	4	761	c.371G>A	c.(370-372)cGc>cAc	p.R124H	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.R124H			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	124						extracellular region|integral to membrane	calcium ion binding	p.R124H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCAGTCGCGCCGGGCAC	0.632000													18	81					0	0	0.000566183	0	0
MTMR11	10903	broad.mit.edu	37	1	149906158	149906158	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:149906158C>T	ENST00000439741.2	-	7	859	c.609G>A	c.(607-609)gaG>gaA	p.E203E	MTMR11_ENST00000369140.3_Silent_p.E131E|MTMR11_ENST00000361405.6_Silent_p.E203E|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.E175E	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	203	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCGCTCAGTCTCCCAGTCTT	0.572000													32	49					0	0	0.000409698	0	0
PRKG1	5592	broad.mit.edu	37	10	52834425	52834425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:52834425C>G	ENST00000373980.4	+	1	492	c.75C>G	c.(73-75)atC>atG	p.I25M	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	19	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATGCTCTCATCGACGAGCTGG	0.617000													7	10					0	0	0.000157383	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931990	155931990	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:155931990G>A	ENST00000462460.2	-	14	1514	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Silent_p.L347L|ARHGEF2_ENST00000313667.4_Silent_p.L374L|ARHGEF2_ENST00000368315.4_Silent_p.L376L|ARHGEF2_ENST00000368316.1_Silent_p.L347L|ARHGEF2_ENST00000361247.4_Silent_p.L375L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTGCCGCTTGAGCACGGCGG	0.637000													25	44					0	0	0.000184323	0	0
GCLC	2729	broad.mit.edu	37	6	53370630	53370630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:53370630C>G	ENST00000229416.6	-	11	1744	c.1261G>C	c.(1261-1263)Gga>Cga	p.G421R	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	421					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ACTCTCCATCCAATGTCTGAG	0.428000													24	55					0	0	0.00106085	0	0
RTF1	23168	broad.mit.edu	37	15	41749923	41749923	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:41749923T>A	ENST00000389629.4	+	4	523	c.511T>A	c.(511-513)Tct>Act	p.S171T		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	171	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGATTCAGACTCTTCCTCAGA	0.478000													41	153					0	0	0.000319135	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14974951	14974951	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:14974951G>C	ENST00000453695.2	-	9	766	c.322C>G	c.(322-324)Cat>Gat	p.H108D	DCLRE1C_ENST00000378255.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.H113D|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.H113D|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.H113D|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.H228D|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.H228D	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	228					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTATTCACATGAACCTAAGGC	0.393000								Non-homologous end-joining					19	171					0	0	0.000132079	0	0
PLEC	5339	broad.mit.edu	37	8	144994322	144994322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144994322C>A	ENST00000322810.4	-	32	10247	c.10078G>T	c.(10078-10080)Gag>Tag	p.E3360*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.E3209*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E3227*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E3201*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E3223*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E3246*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E3250*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E3191*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E3223*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3360	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGTAGAGCTCCTCCTGCCGG	0.677000													10	56					3.86212e-05	0.000464249	0.000673444	1	0
POSTN	10631	broad.mit.edu	37	13	38158988	38158988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:38158988C>G	ENST00000379747.4	-	8	1090	c.973G>C	c.(973-975)Gaa>Caa	p.E325Q	POSTN_ENST00000379742.4_Missense_Mutation_p.E325Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E325Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E325Q|POSTN_ENST00000379749.4_Missense_Mutation_p.E325Q|POSTN_ENST00000541481.1_Missense_Mutation_p.E325Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	325	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTATTTCCTTCCAGCGTCTCA	0.378000													12	76					0	0	0.000151284	0	0
APBA1	320	broad.mit.edu	37	9	72047530	72047530	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:72047530G>A	ENST00000265381.4	-	12	2586	c.2364C>T	c.(2362-2364)atC>atT	p.I788I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	788	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGATTTCAATGATCCGGTGCC	0.582000													51	6					0	0	0.000781405	0	0
CCDC132	55610	broad.mit.edu	37	7	92978099	92978099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:92978099C>T	ENST00000544910.1	+	25	2414	c.2194C>T	c.(2194-2196)Ctt>Ttt	p.L732F	CCDC132_ENST00000541136.1_Missense_Mutation_p.L573F|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.L482F|CCDC132_ENST00000305866.5_Missense_Mutation_p.L762F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	762										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGCCCTTTCTTCAGCAGTT	0.403000													42	88					0	0	0.000509022	0	0
MED13	9969	broad.mit.edu	37	17	60069976	60069976	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:60069976C>A	ENST00000397786.2	-	11	2264	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	730					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCCCATCTTCTACCTGC	0.338000													9	52					3.09899e-07	3.80347e-06	0.000274275	1	0
MS4A3	932	broad.mit.edu	37	11	59828720	59828720	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:59828720G>C	ENST00000278865.3	+	2	160	c.87G>C	c.(85-87)ctG>ctC	p.L29L	MS4A3_ENST00000534744.1_Silent_p.L29L|MS4A3_ENST00000358152.2_Silent_p.L29L|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	29						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGAAGAGCTGAATACTTCTG	0.478000													37	70					0	0	0.000814825	0	0
LINGO1	84894	broad.mit.edu	37	15	77907318	77907318	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:77907318G>T	ENST00000355300.6	-	2	1105	c.931C>A	c.(931-933)Ctc>Atc	p.L311I	LINGO1_ENST00000561030.1_Missense_Mutation_p.L305I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	311					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCAGCCGGAGCAGCTCATGC	0.627000													15	69					0.000219431	0.00259947	0.000219431	1	0
HIPK3	10114	broad.mit.edu	37	11	33308267	33308267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:33308267C>T	ENST00000303296.4	+	2	612	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	HIPK3_ENST00000456517.1_Missense_Mutation_p.H103Y|HIPK3_ENST00000525975.1_Missense_Mutation_p.H103Y|HIPK3_ENST00000379016.3_Missense_Mutation_p.H103Y	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	103					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ACAGCAAGCTCACGTGCAGGC	0.502000													19	19					0	0	0.000958276	0	0
PROKR2	128674	broad.mit.edu	37	20	5282740	5282740	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:5282740G>C	ENST00000546004.1	-	3	1347	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	PROKR2_ENST00000217270.3_Silent_p.L367L			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	367						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTTGGTTCTGAGGTCAAGGT	0.547000										HNSCC(71;0.22)			11	56					0	0	0.00010058	0	0
MYOM1	8736	broad.mit.edu	37	18	3129298	3129298	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:3129298G>T	ENST00000356443.4	-	18	3059	c.2726C>A	c.(2725-2727)cCg>cAg	p.P909Q	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.P909Q|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	909						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGTGGTGGCGGGGTAAGCTC	0.493000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0.000602214	0.00703214	0.000602214	1	0
GGA2	23062	broad.mit.edu	37	16	23491968	23491968	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:23491968C>G	ENST00000309859.4	-	10	1086	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	335	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAACATACCTCTGGAGACAGG	0.498000													29	24					0	0	0.00106085	0	0
FXYD7	53822	broad.mit.edu	37	19	35642297	35642297	+	Missense_Mutation	SNP	T	T	C	rs11673428	by1000genomes	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:35642297T>C	ENST00000588265.1	+	3	257	c.202T>C	c.(202-204)Tac>Cac	p.Y68H	FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ATCCATATCCTACCCGCTATG	0.552000													6	93					0	0	3.59834e-05	0	0
EPHA5	2044	broad.mit.edu	37	4	66361157	66361157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:66361157C>T	ENST00000273854.3	-	4	1615	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E339K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E339K|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	339	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAATCCTTTTCACAGACACAA	0.468000										TSP Lung(17;0.13)			12	131					0	0	0.000978159	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36219784	36219784	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36219784G>A	ENST00000258840.6	-	9	1305	c.915C>T	c.(913-915)gtC>gtT	p.V305V	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.V305V|RALGAPA1_ENST00000307138.6_Silent_p.V305V|RALGAPA1_ENST00000382366.3_Silent_p.V305V	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	305					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCAACGAATGACAATAACAC	0.418000													12	24					0	0	0.000219431	0	0
CDAN1	146059	broad.mit.edu	37	15	43026452	43026452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43026452C>T	ENST00000356231.3	-	7	1252	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	410						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ATAGGCAGCTCGAAGGCGGCC	0.557000													20	57					0	0	0.000175454	0	0
PRMT10	90826	broad.mit.edu	37	4	148575529	148575529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:148575529G>C	ENST00000322396.6	-	9	1761	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	PRMT10_ENST00000541232.1_Missense_Mutation_p.Q394E|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	507						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTACTGGTCTGAAGGTTAGCG	0.383000													30	82					0	0	0.000339439	0	0
LCTL	197021	broad.mit.edu	37	15	66845521	66845521	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:66845521T>G	ENST00000341509.5	-	9	1129	c.998A>C	c.(997-999)aAa>aCa	p.K333T	LCTL_ENST00000537670.1_Missense_Mutation_p.K160T	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	333					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGATGTGCCTTTAATGTAGCT	0.488000													51	200					0	0	0.000781405	0	0
AGGF1	55109	broad.mit.edu	37	5	76351402	76351402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:76351402G>A	ENST00000312916.7	+	11	2079	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	566					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAGAAAATACGAGTAAAATAT	0.299000													12	48					0	0	0.000151284	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505209	113505209	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113505209G>C	ENST00000273398.3	+	6	803	c.695G>C	c.(694-696)aGa>aCa	p.R232T	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R199T	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	232					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTGGCCAGAGAGTCCTTGAT	0.428000													168	184					0	0	0.000781405	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586931	15586931	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15586931C>A	ENST00000292609.4	-	2	679	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D184Y			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	184					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCTCCAATATCTGCAGTGGTG	0.542000													21	137					2.39187e-15	3.00787e-14	0.000132079	1	0
TIMP1	7076	broad.mit.edu	37	X	47445134	47445134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:47445134G>C	ENST00000377018.2	+	3	1067	c.503G>C	c.(502-504)tGt>tCt	p.C168S	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000218388.4_Intron|TIMP1_ENST00000456754.2_3'UTR|SYN1_ENST00000340666.4_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TCGTGGGCTTGTTTCTTGCTC	0.567000													6	11					0	0	3.59834e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13913930	13913930	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:13913930G>A	ENST00000265104.4	-	11	1562	c.1458C>T	c.(1456-1458)atC>atT	p.I486I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	486	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGTTGTAAAGATGTCTATTA	0.358000									Kartagener syndrome				71	77					0	0	0.000781405	0	0
TRERF1	55809	broad.mit.edu	37	6	42224558	42224558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224558G>C	ENST00000541110.1	-	12	3116	c.2548C>G	c.(2548-2550)Ctg>Gtg	p.L850V	TRERF1_ENST00000340840.2_Missense_Mutation_p.L747V|TRERF1_ENST00000372917.4_Missense_Mutation_p.L747V|TRERF1_ENST00000354325.2_Missense_Mutation_p.L747V|TRERF1_ENST00000372922.4_Missense_Mutation_p.L830V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	830	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACAAATTCAGAAGATTCTCC	0.463000													55	28					0	0	0.000781405	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282772	73282772	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:73282772G>C	ENST00000402418.3	-	1	983	c.74C>G	c.(73-75)tCt>tGt	p.S25C	SLC25A19_ENST00000320362.3_Missense_Mutation_p.S25C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S25C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.S25C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.S25C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S25C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	25						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AACAAGTCCAGACACAGACCC	0.537000													4	56					0	0	0.00024832	0	0
TMEM102	284114	broad.mit.edu	37	17	7339584	7339584	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:7339584G>C	ENST00000323206.1	+	3	559	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	TMEM102_ENST00000396568.1_Missense_Mutation_p.E96Q|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	96					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGGATTCGCGAGGGCTCCCT	0.617000													18	15					0	0	0.000958276	0	0
BTF3L4	91408	broad.mit.edu	37	1	52530608	52530608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:52530608G>C	ENST00000313334.8	+	3	434	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	BTF3L4_ENST00000533836.1_3'UTR|BTF3L4_ENST00000484036.1_Missense_Mutation_p.E56Q|BTF3L4_ENST00000489308.2_Missense_Mutation_p.E56Q|BTF3L4_ENST00000472944.2_5'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	56	NAC-A/B.									endometrium(2)|kidney(1)|large_intestine(2)	5						TGGTATTGAAGAGGTATGATC	0.358000													22	52					0	0	0.000175454	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693430	47693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:47693430C>T	ENST00000397708.1	-	8	2322	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E690K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	690					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGCCGCAGCTCGTGGGGCAGG	0.612000													23	44					0	0	0.00047179	0	0
AQP7	364	broad.mit.edu	37	9	33386406	33386406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33386406G>C	ENST00000537089.1	-	4	444	c.126C>G	c.(124-126)ttC>ttG	p.F42L	AQP7_ENST00000377425.4_Missense_Mutation_p.F77L|AQP7_ENST00000539936.1_Missense_Mutation_p.F134L|AQP7_ENST00000541274.1_Missense_Mutation_p.F42L			O14520	AQP7_HUMAN	aquaporin 7	134					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACTCACTGTAGAAGAGACTGT	0.577000													4	23					0	0	0.00024832	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000591382.1_Silent_p.T404T|EFTUD2_ENST00000592576.1_Silent_p.T394T|EFTUD2_ENST00000402521.3_Silent_p.T369T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	83					0	0	0.000566183	0	0
TRPC3	7222	broad.mit.edu	37	4	122828620	122828620	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:122828620G>T	ENST00000264811.5	-	6	2094	c.1676C>A	c.(1675-1677)gCa>gAa	p.A559E	TRPC3_ENST00000379645.3_Missense_Mutation_p.A632E|TRPC3_ENST00000513531.1_Missense_Mutation_p.A504E	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	547					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTCTCATTTGCAGGGAGGAT	0.448000													58	138					1.95512e-22	2.48155e-21	0.000781405	1	0
ZNF292	23036	broad.mit.edu	37	6	87970067	87970067	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:87970067C>T	ENST00000369577.3	+	8	6763	c.6720C>T	c.(6718-6720)gaC>gaT	p.D2240D	ZNF292_ENST00000339907.4_Silent_p.D2235D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAGGCAGACCACGGGATTG	0.418000													31	70					0	0	0.000184323	0	0
COMP	1311	broad.mit.edu	37	19	18895873	18895873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:18895873C>G	ENST00000542601.2	-	15	2037	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	COMP_ENST00000425807.1_Missense_Mutation_p.E530Q|COMP_ENST00000222271.2_Missense_Mutation_p.E583Q			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	583	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AACGTGCCCTCGAAGTCCACG	0.582000													11	72					0	0	0.000151284	0	0
CTB-96E2.2	0	broad.mit.edu	37	17	26691931	26691931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26691931G>A	ENST00000555059.2	-	3	375	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Silent_p.F51F|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000431468.1_Silent_p.F52F|VTN_ENST00000438614.1_Silent_p.F51F						0																	GCCCTTTGCTGAAGGTGGTCC	0.637000													8	16					0	0	0.000157383	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99363176	99363176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:99363176C>G	ENST00000408927.3	+	15	1845	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L487V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L578V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L529V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L579V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L530V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	578							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTGGCTTTTCTAGATGTCGT	0.408000			T	NUP98	T-ALL								16	33					0	0	0.00074312	0	0
COL14A1	7373	broad.mit.edu	37	8	121290778	121290778	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:121290778G>C	ENST00000297848.3	+	28	3712	c.3442G>C	c.(3442-3444)Gat>Cat	p.D1148H	COL14A1_ENST00000309791.4_Missense_Mutation_p.D1148H|COL14A1_ENST00000247781.3_Missense_Mutation_p.D1053H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1148	VWFA 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)			AAGATCACAAGATGATGTGAA	0.358000													45	40					0	0	0.000781405	0	0
INPP4A	3631	broad.mit.edu	37	2	99182196	99182196	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:99182196C>G	ENST00000409016.4	+	21	2541	c.2144C>G	c.(2143-2145)tCc>tGc	p.S715C	INPP4A_ENST00000545415.1_Missense_Mutation_p.S715C|INPP4A_ENST00000074304.5_Missense_Mutation_p.S754C|INPP4A_ENST00000409540.3_Missense_Mutation_p.S715C|INPP4A_ENST00000523221.1_Missense_Mutation_p.S754C|INPP4A_ENST00000409851.3_Missense_Mutation_p.S749C|INPP4A_ENST00000409463.1_Missense_Mutation_p.S83C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCCAGCGCCTCCGCAGACATG	0.517000													35	57					0	0	0.000319135	0	0
ITGAL	3683	broad.mit.edu	37	16	30510399	30510399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:30510399C>T	ENST00000356798.6	+	16	2017	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R530W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	613					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.R613W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGCAGCTCCCGGCCCGTGGT	0.572000													7	25					0	0	8.12818e-05	0	0
CACNG8	59283	broad.mit.edu	37	19	54485522	54485522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:54485522G>C	ENST00000270458.2	+	4	800	c.697G>C	c.(697-699)Gag>Cag	p.E233Q		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687000													4	6					0	0	0.000602214	0	0
OSBPL10	114884	broad.mit.edu	37	3	31921292	31921292	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:31921292G>A	ENST00000396556.2	-	2	434	c.312C>T	c.(310-312)atC>atT	p.I104I	OSBPL10_ENST00000438237.2_Silent_p.I104I	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	104	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATACTGCAGGATGCCAGCCT	0.478000													10	46					0	0	0.000442599	0	0
IMPA1	3612	broad.mit.edu	37	8	82593018	82593018	+	Splice_Site	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:82593018C>A	ENST00000256108.5	-	3	529	c.64G>T	c.(64-66)Gta>Tta	p.V22L	IMPA1_ENST00000523710.1_Intron|IMPA1_ENST00000449740.2_Splice_Site_p.V81L|IMPA1_ENST00000311489.4_Splice_Site_p.V22L	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	22					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCACAAACTACCTAAAAAGAG	0.274000													17	157					5.01169e-05	0.000598912	0.000566183	1	0
HIGD1A	25994	broad.mit.edu	37	3	42845680	42845680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:42845680C>G	ENST00000452906.2	-	1	245	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	HIGD1A_ENST00000321331.7_Intron|HIGD1A_ENST00000430190.1_Intron|HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000470543.1_Intron	NM_001099668.1	NP_001093138.1	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	0	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGCTTCTGCTCCATCTCCTCG	0.677000													75	119					0	0	0.000781405	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341538	151341538	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341538G>A	ENST00000435071.1	-	4	572	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000426705.2_Missense_Mutation_p.S143F|SELENBP1_ENST00000368868.5_Missense_Mutation_p.S101F|SELENBP1_ENST00000473693.1_5'UTR			Q13228	SBP1_HUMAN	selenium binding protein 1	101					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GATGCGAGAGGAGATGAGACT	0.592000													40	52					0	0	0.000319135	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													3	41					0	0	3.59834e-05	0	0
HRASLS2	54979	broad.mit.edu	37	11	63320520	63320520	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:63320520C>T	ENST00000255695.1	-	4	463	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	135					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACCTACTGTCGTGACTGCAC	0.562000													27	95					0	0	0.000720815	0	0
CHL1	10752	broad.mit.edu	37	3	440699	440699	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:440699G>A	ENST00000256509.2	+	26	3895		c.e26-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCTACCACAGAATATGCTGG	0.348000													9	207					0	0	0.00010058	0	0
COL15A1	1306	broad.mit.edu	37	9	101800955	101800955	+	Missense_Mutation	SNP	G	G	C	rs139652646	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:101800955G>C	ENST00000375001.3	+	22	2838	c.2415G>C	c.(2413-2415)ttG>ttC	p.L805F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	805	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCAGTCCTTGATCAATATCA	0.463000													37	228					0	0	0.000437636	0	0
USP35	57558	broad.mit.edu	37	11	77919932	77919932	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:77919932C>G	ENST00000529308.1	+	9	1776	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	USP35_ENST00000441408.2_Silent_p.L91L|USP35_ENST00000530267.1_Silent_p.L73L|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.L236L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	505					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGAACTTCCTCTCCGCATCCT	0.622000													53	98					0	0	0.000781405	0	0
NR1H2	7376	broad.mit.edu	37	19	50881040	50881040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:50881040G>A	ENST00000253727.5	+	4	329	c.94G>A	c.(94-96)Gag>Aag	p.E32K	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Missense_Mutation_p.E32K|NR1H2_ENST00000599105.1_Missense_Mutation_p.E32K|NR1H2_ENST00000593926.1_Missense_Mutation_p.E32K|NR1H2_ENST00000411902.2_Missense_Mutation_p.E32K	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	32					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CACTGTAAAGGAGGAGGGTCC	0.647000													10	51					0	0	0.000673444	0	0
CDK12	51755	broad.mit.edu	37	17	37627781	37627781	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:37627781C>T	ENST00000447079.4	+	2	1729	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	CDK12_ENST00000430627.2_Silent_p.L566L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	566					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAACCACCTCTGCCTCCTTC	0.547000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			71	259					0	0	0.000781405	0	0
PKDCC	91461	broad.mit.edu	37	2	42282449	42282449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:42282449G>C	ENST00000294964.5	+	5	1318	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	380	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGGGGTGGACGAGACCCTGGC	0.647000													9	43					0	0	0.000442599	0	0
DDX5	1655	broad.mit.edu	37	17	62496163	62496163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:62496163G>A	ENST00000225792.5	-	13	2124	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	DDX5_ENST00000450599.2_Nonsense_Mutation_p.Q496*|DDX5_ENST00000578804.1_Nonsense_Mutation_p.Q575*	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	575					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGTATTGCTGAGTGCTATCA	0.418000			T	ETV4	prostate								36	51					0	0	0.00058488	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025918	41025918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41025918G>A	ENST00000352632.3	+	16	3600	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1172K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1172K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1172K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E1172K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1172					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGACGAGTGGCTGCC	0.682000													9	24					0	0	0.000673444	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606234	43606234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:43606234C>T	ENST00000360835.4	-	19	2522	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AAGCTCGCCGCCGCAGTGCTG	0.677000													9	20					0	0	0.00010058	0	0
GTPBP2	54676	broad.mit.edu	37	6	43593155	43593155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:43593155G>A	ENST00000307126.5	-	5	649	c.650C>T	c.(649-651)tCt>tTt	p.S217F	GTPBP2_ENST00000307114.7_Missense_Mutation_p.S129F|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	217							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)			GGTTCGGCCAGACTGAATCTC	0.592000													36	79					0	0	0.00058488	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		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)			11	9					0	0	0.000978159	0	0
RXFP3	51289	broad.mit.edu	37	5	33938041	33938041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:33938041C>T	ENST00000330120.3	+	1	1551	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	399						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TTCCGCAAGGCGCTCAAGAGC	0.647000													23	57					0	0	0.000586117	0	0
WDR46	9277	broad.mit.edu	37	6	33248750	33248750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:33248750G>C	ENST00000374617.4	-	11	1486	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	377										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GTCTAGGCCAGAGGTGGCCAT	0.552000													11	34					0	0	0.000978159	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264207	160264207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:160264207C>T	ENST00000264431.4	+	15	2931	c.2512C>T	c.(2512-2514)Caa>Taa	p.Q838*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	838	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAACTATTTCAAGATCTCCA	0.423000													15	33					0	0	0.000308642	0	0
CELSR2	1952	broad.mit.edu	37	1	109793966	109793966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:109793966C>T	ENST00000271332.3	+	1	1326	c.1265C>T	c.(1264-1266)aCa>aTa	p.T422I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	422	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCGAGTCACAGCCTCGGAT	0.557000													19	60					0	0	0.000175454	0	0
CENPE	1062	broad.mit.edu	37	4	104070087	104070087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:104070087C>A	ENST00000265148.3	-	28	3846	c.3757G>T	c.(3757-3759)Gaa>Taa	p.E1253*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1228*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1253					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTCTTAGTTCATCAATAGTT	0.323000													31	71					3.57733e-08	4.41708e-07	0.000279167	1	0
NPTXR	23467	broad.mit.edu	37	22	39218743	39218743	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:39218743G>A	ENST00000333039.2	-	5	1497	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	458	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAATGCCCAGGACCTGGGCTG	0.617000													4	25					0	0	0.00024832	0	0
RBM44	375316	broad.mit.edu	37	2	238726844	238726844	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:238726844A>G	ENST00000316997.4	+	3	1417	c.1285A>G	c.(1285-1287)Acg>Gcg	p.T429A	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.T429A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	428							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAAGATAATACGTCCCTAAA	0.373000													14	38					0	0	0.000219431	0	0
RPAP3	79657	broad.mit.edu	37	12	48061621	48061621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:48061621G>C	ENST00000005386.3	-	15	1842	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	RPAP3_ENST00000432584.3_Missense_Mutation_p.S417C|RPAP3_ENST00000380650.4_Missense_Mutation_p.S542C	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	576							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGGATACAAAGATGGTTCAAT	0.294000													9	40					0	0	0.000442599	0	0
KIAA0430	9665	broad.mit.edu	37	16	15727580	15727580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:15727580C>G	ENST00000396368.3	-	5	1333	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	KIAA0430_ENST00000548025.1_Missense_Mutation_p.R373T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R373T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R198T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R376T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R376T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	375						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTCACGGATTCTTTGCACAAC	0.428000													50	196					0	0	0.000781405	0	0
HELZ2	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196310C>G	ENST00000467148.1	-	8	3934	c.3865G>C	c.(3865-3867)Gag>Cag	p.E1289Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.E720Q	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGCTGGCCTCAGGCAGCACC	0.672000													14	14					0	0	0.000219431	0	0
MCHR1	2847	broad.mit.edu	37	22	41077227	41077227	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:41077227C>T	ENST00000249016.4	+	2	1260	c.564C>T	c.(562-564)atC>atT	p.I188I	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	188					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCACCCTCATCACGGCCATGG	0.572000													47	49					0	0	0.000781405	0	0
DDX60	55601	broad.mit.edu	37	4	169197306	169197306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:169197306C>T	ENST00000393743.3	-	15	2296	c.2005G>A	c.(2005-2007)Gct>Act	p.A669T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	669							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGAACAGCTATACTTAAA	0.313000													10	56					0	0	0.000978159	0	0
STAP2	55620	broad.mit.edu	37	19	4333712	4333712	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:4333712C>A	ENST00000600324.1	-	3	343	c.276G>T	c.(274-276)cgG>cgT	p.R92R	STAP2_ENST00000594605.1_Silent_p.R92R	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	92	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGATCCCGGAGAATCA	0.547000													6	41					3.59834e-05	0.000433817	3.59834e-05	1	0
TMEM260	54916	broad.mit.edu	37	14	57099827	57099827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:57099827C>G	ENST00000261556.6	+	13	1784	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.F88L	NM_017799.3	NP_060269.3			transmembrane protein 260																		AGATTGTATTCAACCCTGAGG	0.373000													42	24					0	0	0.000374591	0	0
GPR156	165829	broad.mit.edu	37	3	119886885	119886885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:119886885G>T	ENST00000464295.1	-	10	1884	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y	GPR156_ENST00000315843.3_Missense_Mutation_p.S480Y|GPR156_ENST00000461057.1_Missense_Mutation_p.S476Y			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	480						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TAAATGATCAGAAAAGTCTTT	0.532000													25	135					4.4004e-07	5.38456e-06	0.00047179	1	0
TMEM97	27346	broad.mit.edu	37	17	26646322	26646322	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646322C>T	ENST00000226230.6	+	1	202	c.57C>T	c.(55-57)ctC>ctT	p.L19L	TMEM97_ENST00000583381.1_Intron|TMEM97_ENST00000582113.1_Silent_p.L19L	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	19					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTACTTCCTCAGCCACATCC	0.672000													10	19					0	0	0.000978159	0	0
FAM160B1	57700	broad.mit.edu	37	10	116602857	116602857	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602857C>A	ENST00000369248.4	+	6	1023	c.688C>A	c.(688-690)Cat>Aat	p.H230N	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H230N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	230										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCCTCCTCATCAGATGGA	0.473000													18	64					1.99824e-07	2.45988e-06	0.000566183	1	0
CHD4	1108	broad.mit.edu	37	12	6692229	6692229	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692229C>G	ENST00000309577.6	-	26	4358	c.4195G>C	c.(4195-4197)Gag>Cag	p.E1399Q	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.E1364Q|CHD4_ENST00000357008.2_Missense_Mutation_p.E1371Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1396Q|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1371					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACCTTCCTCTGAAGCCACT	0.498000													22	76					0	0	0.000229342	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340347	90340347	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:90340347C>T	ENST00000369408.5	+	15	2052	c.1703C>T	c.(1702-1704)gCa>gTa	p.A568V	ANKRD6_ENST00000522441.1_Missense_Mutation_p.A603V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A598V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A603V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A539V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	603							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATGAATGAGGCAGCCAGATCT	0.572000													6	20					0	0	8.12818e-05	0	0
PLCB3	5331	broad.mit.edu	37	11	64032897	64032897	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:64032897C>T	ENST00000540288.1	+	25	3061	c.2958C>T	c.(2956-2958)gtC>gtT	p.V986V	PLCB3_ENST00000325234.5_Silent_p.V919V|PLCB3_ENST00000279230.6_Silent_p.V986V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	986					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGAAGGCAGTCACCCTCACCC	0.682000													8	19					0	0	0.000673444	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059207	67059207	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:67059207C>T	ENST00000447274.2	+	5	1445	c.270C>T	c.(268-270)ttC>ttT	p.F90F	ANKRD13D_ENST00000308440.6_Silent_p.F90F|ANKRD13D_ENST00000514166.1_Silent_p.F90F|ANKRD13D_ENST00000511455.2_Silent_p.F177F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	90										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTTCATCTTCAAGGGCCAGG	0.612000													7	42					0	0	0.000157383	0	0
HELZ2	85441	broad.mit.edu	37	20	62196796	62196796	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196796C>T	ENST00000467148.1	-	8	3448	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E558K	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGGTACCGCTCGGGCTCCGCG	0.706000													7	9					0	0	0.000978159	0	0
SRGAP2	23380	broad.mit.edu	37	1	206623769	206623769	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:206623769C>G	ENST00000414007.1	+	15	1718	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Nonsense_Mutation_p.S18*			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	713	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTTGAAGACTCAACCCAGGAT	0.552000													8	23					0	0	0.000978159	0	0
MYH10	4628	broad.mit.edu	37	17	8396109	8396109	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:8396109C>T	ENST00000360416.3	-	33	4581	c.4443G>A	c.(4441-4443)caG>caA	p.Q1481Q	MYH10_ENST00000379980.4_Silent_p.Q1466Q|MYH10_ENST00000396239.1_Silent_p.Q1471Q|MYH10_ENST00000269243.4_Silent_p.Q1450Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1450					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAAACTTCTTCTGCTTCTTCT	0.517000													7	27					0	0	8.12818e-05	0	0
DENND3	22898	broad.mit.edu	37	8	142200469	142200469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:142200469G>A	ENST00000519811.1	+	20	3402	c.3332G>A	c.(3331-3333)cGa>cAa	p.R1111Q	DENND3_ENST00000262585.2_Missense_Mutation_p.R1031Q|DENND3_ENST00000523308.1_Missense_Mutation_p.R81Q|DENND3_ENST00000424248.1_Missense_Mutation_p.R979Q			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1031										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGCCGCGAGGTGGCCTG	0.642000													14	39					0	0	0.000308642	0	0
STAG3	10734	broad.mit.edu	37	7	99808634	99808634	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99808634G>A	ENST00000426455.1	+	30	3646	c.3239G>A	c.(3238-3240)gGg>gAg	p.G1080E	GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Splice_Site_p.G1022E|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site_p.G1080E|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1080					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTTGGCAGGGCCTGCCAAG	0.572000													27	62					0	0	0.000878237	0	0
RHOA	387	broad.mit.edu	37	3	49405951	49405951	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:49405951G>T	ENST00000418115.1	-	3	571	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Q63K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	63					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TAATCTTCCTGCCCAGCTGTG	0.483000													24	93					2.79863e-10	3.46606e-09	0.000720815	1	0
TBK1	29110	broad.mit.edu	37	12	64868152	64868152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:64868152G>A	ENST00000331710.5	+	6	1022	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	228	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GAAGGGCCTCGTAGGAATAAA	0.383000													35	142					0	0	0.000953801	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:142500655C>G	ENST00000378004.3	+	18	1996	c.1641C>G	c.(1639-1641)atC>atG	p.I547M	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.I547M	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	547	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433000													40	71					0	0	0.000228196	0	0
SPTAN1	6709	broad.mit.edu	37	9	131367341	131367341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:131367341G>A	ENST00000358161.5	+	30	3861	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1250K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1250K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1250					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAATGGATTGAAGAGAAGAA	0.443000													5	48					0	0	8.12818e-05	0	0
BTBD11	121551	broad.mit.edu	37	12	108034099	108034099	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:108034099C>G	ENST00000280758.5	+	13	3277	c.2749C>G	c.(2749-2751)Ctt>Gtt	p.L917V	BTBD11_ENST00000357167.4_Missense_Mutation_p.L454V|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000420571.2_Missense_Mutation_p.L798V|BTBD11_ENST00000490090.2_Missense_Mutation_p.L917V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	917						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTCATTTTCTTAACAATAA	0.348000													13	75					0	0	0.000151284	0	0
CHST11	50515	broad.mit.edu	37	12	105151419	105151419	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:105151419G>A	ENST00000303694.5	+	3	1336	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CHST11_ENST00000549260.1_Silent_p.L294L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	299					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAGCTACCTGAAGTTCCCCA	0.512000													11	37					0	0	0.000673444	0	0
ZNF738	148203	broad.mit.edu	37	19	21558726	21558726	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:21558726C>G	ENST00000311015.3	+	4	490	c.279C>G	c.(277-279)ccC>ccG	p.P93P	ZNF738_ENST00000597810.1_Silent_p.P93P|ZNF738_ENST00000380870.4_Silent_p.P93P																kidney(1)|lung(1)	2						GAAAAGATCCCTGGAATATGA	0.373000													28	57					0	0	0.000227799	0	0
CHD4	1108	broad.mit.edu	37	12	6692529	6692529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692529C>G	ENST00000309577.6	-	26	4058	c.3895G>C	c.(3895-3897)Gaa>Caa	p.E1299Q	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.E1292Q|CHD4_ENST00000357008.2_Missense_Mutation_p.E1299Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1296Q|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1299	Poly-Glu.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATTTCCCGTTCTACCTCCTCT	0.532000													40	166					0	0	0.000374591	0	0
TAMM41	132001	broad.mit.edu	37	3	11880710	11880710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:11880710G>A	ENST00000444133.2	-	3	539	c.397C>T	c.(397-399)Cga>Tga	p.R133*	TAMM41_ENST00000455809.1_Nonsense_Mutation_p.R133*|TAMM41_ENST00000273037.5_Nonsense_Mutation_p.R133*			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	133					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											TTTTGGAGTCGTCCAGCAATG	0.393000													35	54					0	0	0.000228196	0	0
BBOX1	8424	broad.mit.edu	37	11	27148986	27148986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:27148986G>A	ENST00000263182.3	+	9	1518	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	BBOX1_ENST00000525090.1_Missense_Mutation_p.E384K|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.E384K|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.E384K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	384					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGAGGGTGGAGAATGGAAA	0.413000													19	50					0	0	0.000132079	0	0
HAS2	3037	broad.mit.edu	37	8	122626946	122626946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:122626946C>T	ENST00000303924.4	-	4	1599	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	354						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGACTTGCTCCAACGGGTCT	0.448000													28	118					0	0	0.000878237	0	0
ACOT8	10005	broad.mit.edu	37	20	44483824	44483824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44483824G>A	ENST00000217455.4	-	2	326	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	79					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCAGTGCAGGGAGTGCACGTG	0.617000													53	41					0	0	0.000781405	0	0
ELF4	2000	broad.mit.edu	37	X	129208117	129208117	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:129208117C>G	ENST00000308167.5	-	4	627		c.e4-1		ELF4_ENST00000335997.7_Splice_Site	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)						natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCATTGTCATCTGGTCCGGGT	0.532000			T	ERG	AML								53	165					0	0	0.000781405	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685476	128685476	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:128685476G>C	ENST00000281154.4	+	3	607	c.439G>C	c.(439-441)Gat>Cat	p.D147H		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	147					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ATATCCTCTAGATTTTGCCCG	0.378000													17	56					0	0	0.000958276	0	0
FBXO18	84893	broad.mit.edu	37	10	5959443	5959443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:5959443G>C	ENST00000379999.5	+	12	2106	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	FBXO18_ENST00000397269.3_Missense_Mutation_p.E104Q|FBXO18_ENST00000362091.4_Missense_Mutation_p.E617Q	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	617					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAGTGCACAGAAGAGGCGCA	0.577000													22	43					0	0	0.00047179	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239847	5239847	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:5239847G>A	ENST00000274181.7	+	16	2470	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	778	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGCATCTATGAAATGAACGT	0.483000													29	102					0	0	0.00106085	0	0
OR2G2	81470	broad.mit.edu	37	1	247751675	247751675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751675G>C	ENST00000320065.1	+	1	14	c.14G>C	c.(13-15)aGa>aCa	p.R5T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATGGTGAGACATACCAAT	0.413000													24	98					0	0	0.000491102	0	0
TRPM2	7226	broad.mit.edu	37	21	45795809	45795809	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45795809G>C	ENST00000397928.1	+	6	1310	c.865G>C	c.(865-867)Gac>Cac	p.D289H	TRPM2_ENST00000397932.2_Missense_Mutation_p.D289H|TRPM2_ENST00000300481.9_Missense_Mutation_p.D289H|TRPM2_ENST00000300482.5_Missense_Mutation_p.D289H|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	289						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCGTGGACGACGGGACCCA	0.587000													19	50					0	0	0.000132079	0	0
LYST	1130	broad.mit.edu	37	1	235922510	235922510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:235922510C>T	ENST00000389794.3	-	23	6817	c.6643G>A	c.(6643-6645)Gat>Aat	p.D2215N	LYST_ENST00000389793.2_Missense_Mutation_p.D2215N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2215					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGACTGTCATCTTCTGACCTG	0.547000													35	74					0	0	0.000953801	0	0
PSMD1	5707	broad.mit.edu	37	2	231947596	231947596	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:231947596G>C	ENST00000308696.6	+	13	1575		c.e13-1		PSMD1_ENST00000409643.1_Splice_Site|PSMD1_ENST00000373635.4_Splice_Site	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1						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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTTTCCTTAGATCGTTAGAC	0.368000													13	43					0	0	0.000308642	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21780097	21780097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:21780097G>A	ENST00000206660.6	+	8	1045	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D322N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D322N|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D349N			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	349					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCAACTGGAAGATGTGTCTAT	0.443000													7	14					0	0	0.000157383	0	0
CACNB2	783	broad.mit.edu	37	10	18803285	18803285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:18803285C>G	ENST00000396576.2	+	6	1127	c.626C>G	c.(625-627)cCc>cGc	p.P209R	CACNB2_ENST00000282343.8_Missense_Mutation_p.P236R|CACNB2_ENST00000377329.4_Missense_Mutation_p.P210R|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.P264R|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.P216R|CACNB2_ENST00000377331.2_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	264					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAAAGAATGCCCTTCTTTAAG	0.468000													29	142					0	0	0.000339439	0	0
ADCY1	107	broad.mit.edu	37	7	45650061	45650061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:45650061C>G	ENST00000297323.7	+	3	895	c.873C>G	c.(871-873)ttC>ttG	p.F291L	ADCY1_ENST00000432715.1_Missense_Mutation_p.F66L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	291					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGAGGATTTTCCACAAGATTT	0.577000													37	85					0	0	0.000374591	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534019	115534019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:115534019G>T	ENST00000361048.1	+	9	1033	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	PLEKHS1_ENST00000369312.4_Nonsense_Mutation_p.E148*|PLEKHS1_ENST00000369310.3_Nonsense_Mutation_p.E230*|PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369309.1_Nonsense_Mutation_p.E50*	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1									p.E236*(1)									TGATTCTGGTGAATCCATTGA	0.378000													33	45					2.47316e-13	3.08165e-12	0.00058488	1	0
CD6	923	broad.mit.edu	37	11	60785351	60785351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:60785351C>T	ENST00000313421.7	+	11	1889	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	CD6_ENST00000346437.4_Missense_Mutation_p.S495L|CD6_ENST00000452451.2_Missense_Mutation_p.S527L|CD6_ENST00000344028.5_Missense_Mutation_p.S536L|CD6_ENST00000352009.5_Missense_Mutation_p.S536L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	568					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGCACCTCTTCAGGGGAGGAT	0.567000													22	61					0	0	0.000375601	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148785	70148785	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:70148785C>T	ENST00000374299.3	-	3	582	c.438G>A	c.(436-438)aaG>aaA	p.K146K	SLC7A3_ENST00000298085.4_Silent_p.K146K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	146					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCAGAGTCTTAGAGATGT	0.542000													12	61					0	0	0.00010058	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315335	120315335	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:120315335G>A	ENST00000485064.1	+	1	161	c.129G>A	c.(127-129)ctG>ctA	p.L43L	NDUFB4_ENST00000492739.1_Silent_p.L43L|NDUFB4_ENST00000184266.2_Silent_p.L43L	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	43					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	GAGCCCAGCTGAAACGAGAGT	0.632000													24	23					0	0	0.000184323	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111812	3111812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:3111812C>T	ENST00000263650.7	-	20	2533	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	OSBPL5_ENST00000525498.1_Missense_Mutation_p.E703K|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E423K|OSBPL5_ENST00000478260.1_Missense_Mutation_p.E246K|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E724K|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E724K	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	792					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCCTGCTCCTCGTCTGAG	0.682000													16	33					0	0	0.000566183	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957821	152957821	+	Missense_Mutation	SNP	G	G	A	rs17882377		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:152957821G>A	ENST00000307122.2	+	2	179	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E39K	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	39	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAACCAAGGAGCCCTGCCA	0.652000													30	125					0	0	0.000227799	0	0
OR2G2	81470	broad.mit.edu	37	1	247752001	247752001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752001G>A	ENST00000320065.1	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATCCACTGAGTGCGTCCT	0.527000													40	122					0	0	0.000509022	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131777	82131777	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:82131777C>T	ENST00000199936.4	+	5	1093	c.900C>T	c.(898-900)atC>atT	p.I300I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	300					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AGGACTACATCTTAGCACAGC	0.542000													30	40					0	0	0.000491102	0	0
KRT71	112802	broad.mit.edu	37	12	52943818	52943818	+	Missense_Mutation	SNP	C	C	G	rs140770876		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52943818C>G	ENST00000267119.5	-	2	720	c.651G>C	c.(649-651)aaG>aaC	p.K217N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	217	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCACCTCTTCTTGTAGTCCT	0.592000													19	99					0	0	0.000175454	0	0
RENBP	5973	broad.mit.edu	37	X	153206997	153206997	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:153206997G>A	ENST00000393700.3	-	8	959	c.879C>T	c.(877-879)tcC>tcT	p.S293S	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.S279S	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	293					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GGTCCCATCCGGAGTGGAAGG	0.587000													29	107					0	0	0.000184323	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362856	49362856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:49362856C>T	ENST00000263265.6	-	7	1117	c.562G>A	c.(562-564)Gag>Aag	p.E188K	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.E188K|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	188	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ATGCGCCCCTCTTCCCCTCTG	0.677000													5	34					0	0	3.59834e-05	0	0
GART	2618	broad.mit.edu	37	21	34883639	34883639	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:34883639T>C	ENST00000381831.3	-	17	2497	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	GART_ENST00000381839.3_Missense_Mutation_p.Q745R|GART_ENST00000381815.4_Missense_Mutation_p.Q745R|GART_ENST00000543717.1_Missense_Mutation_p.Q297R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	745	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTGCTCTGTCTGCTCCTTTGA	0.512000													124	236					0	0	0.000781405	0	0
DTNA	1837	broad.mit.edu	37	18	32438313	32438313	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:32438313G>C	ENST00000283365.9	+	15	1696	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	DTNA_ENST00000597599.1_Missense_Mutation_p.E446Q|DTNA_ENST00000599844.1_Missense_Mutation_p.E128Q|DTNA_ENST00000598774.1_Missense_Mutation_p.E449Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E154Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E158Q|DTNA_ENST00000269191.6_Missense_Mutation_p.E506Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E154Q|DTNA_ENST00000399113.3_Missense_Mutation_p.E506Q|DTNA_ENST00000597674.1_Missense_Mutation_p.E128Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E215Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E446Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E128Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E446Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E507Q|DTNA_ENST00000598142.1_Missense_Mutation_p.E449Q|DTNA_ENST00000348997.5_Missense_Mutation_p.E503Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E506Q|DTNA_ENST00000596745.1_Missense_Mutation_p.E256Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E446Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	506	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCCACGCCAGAGAAGGCACA	0.512000													25	22					0	0	0.000878237	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36147182	36147182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36147182G>C	ENST00000258840.6	-	22	3611	c.3221C>G	c.(3220-3222)tCt>tGt	p.S1074C	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1040C|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1027C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1027C	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1027					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGAAGAACAGAGTGGTGGAG	0.433000													15	37					0	0	0.00074312	0	0
FBXL13	222235	broad.mit.edu	37	7	102665560	102665560	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102665560C>T	ENST00000393772.2	-	6	871	c.445G>A	c.(445-447)Gag>Aag	p.E149K	FBXL13_ENST00000379308.3_Missense_Mutation_p.E149K|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149K|FBXL13_ENST00000379306.3_Missense_Mutation_p.E149K|FBXL13_ENST00000379305.3_Missense_Mutation_p.E149K|FBXL13_ENST00000313221.4_Missense_Mutation_p.E149K|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149K|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149K|FBXL13_ENST00000471074.1_5'UTR			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTAGAGTCTCATCTACAAGA	0.328000													14	42					0	0	0.000219431	0	0
MRM1	79922	broad.mit.edu	37	17	34964825	34964825	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:34964825G>C	ENST00000250156.7	+	5	1275	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	MRM1_ENST00000585770.1_Missense_Mutation_p.E151Q	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	346					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCAGGCCCAGAGAAAGAGAG	0.622000													24	62					0	0	0.000720815	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061588	38061588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:38061588G>T	ENST00000599616.1	+	16	1528	c.1528G>T	c.(1528-1530)Gag>Tag	p.E510*	PDXP_ENST00000215904.6_Nonsense_Mutation_p.E201*|PDXP_ENST00000403251.1_5'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	670					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CGCTGCAGTGGAGACAGCCTC	0.662000													7	24					2.0095e-06	2.44429e-05	8.12818e-05	1	0
SCAF8	22828	broad.mit.edu	37	6	155123181	155123181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:155123181G>C	ENST00000367178.3	+	7	1259	c.683G>C	c.(682-684)gGt>gCt	p.G228A	SCAF8_ENST00000367186.4_Missense_Mutation_p.G294A|SCAF8_ENST00000417268.1_Missense_Mutation_p.G228A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	228	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTAGATGCTGGTCTTGTTGTT	0.438000													4	79					0	0	0.000602214	0	0
LTV1	84946	broad.mit.edu	37	6	144179139	144179139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:144179139G>C	ENST00000367576.5	+	6	924	c.790G>C	c.(790-792)Gag>Cag	p.E264Q		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	264										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAGAGGTTTGAGAAGGTAAG	0.423000													28	15					0	0	0.000409698	0	0
EXOC1	55763	broad.mit.edu	37	4	56768579	56768579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:56768579G>A	ENST00000381295.2	+	18	2755	c.2407G>A	c.(2407-2409)Gca>Aca	p.A803T	EXOC1_ENST00000349598.6_Missense_Mutation_p.A788T|EXOC1_ENST00000346134.7_Missense_Mutation_p.A803T	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	803					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTACCAACTTGCATTTAACAA	0.378000													22	53					0	0	0.000295444	0	0
PHF6	84295	broad.mit.edu	37	X	133549106	133549106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:133549106G>C	ENST00000332070.3	+	8	992	c.790G>C	c.(790-792)Gat>Cat	p.D264H	PHF6_ENST00000370799.1_Missense_Mutation_p.D265H|PHF6_ENST00000370800.4_Missense_Mutation_p.D265H|PHF6_ENST00000394292.1_Missense_Mutation_p.D265H|PHF6_ENST00000416404.2_Missense_Mutation_p.D230H|PHF6_ENST00000370803.3_Missense_Mutation_p.D264H	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TGGAGACTTTGATATTAAAAC	0.333000			"""F, N, Splice, Mis"""		ETP ALL								53	80					0	0	0.000781405	0	0
OR2G2	81470	broad.mit.edu	37	1	247752462	247752462	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752462G>T	ENST00000320065.1	+	1	801	c.801G>T	c.(799-801)aaG>aaT	p.K267N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			agCCAGCCAAGAGTAGATCCA	0.483000													41	145					1.62957e-23	2.07478e-22	0.000374591	1	0
IARS2	55699	broad.mit.edu	37	1	220276871	220276871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:220276871G>A	ENST00000366922.1	+	8	1148	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	IARS2_ENST00000302637.5_Missense_Mutation_p.E345K			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	345					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTCTACTTTGGAAACAACATT	0.358000													28	63					0	0	0.000184323	0	0
NKTR	4820	broad.mit.edu	37	3	42678621	42678621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:42678621G>C	ENST00000232978.8	+	13	1613	c.1425G>C	c.(1423-1425)atG>atC	p.M475I	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	475	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCGAAGAATGAAATCCTCTT	0.393000													19	67					0	0	0.000229342	0	0
QSER1	79832	broad.mit.edu	37	11	32975498	32975498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:32975498C>G	ENST00000399302.2	+	5	4221	c.3886C>G	c.(3886-3888)Ctc>Gtc	p.L1296V	QSER1_ENST00000527788.1_Missense_Mutation_p.L1057V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1296										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					gcaagaacctctccactctac	0.443000													9	17					0	0	0.000442599	0	0
CXCR1	3577	broad.mit.edu	37	2	219029263	219029263	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:219029263G>A	ENST00000295683.2	-	2	792	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	224					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TACGCAGGGTGAATCCATAGC	0.542000													29	98					0	0	0.00106085	0	0
ZNF623	9831	broad.mit.edu	37	8	144732979	144732979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144732979C>G	ENST00000501748.2	+	1	1026	c.937C>G	c.(937-939)Cac>Gac	p.H313D	ZNF623_ENST00000458270.2_Missense_Mutation_p.H273D|ZNF623_ENST00000526926.1_Missense_Mutation_p.H273D	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGAGAATTCACACCGGAGA	0.468000													58	72					0	0	0.000781405	0	0
MAP3K15	389840	broad.mit.edu	37	X	19482501	19482501	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:19482501G>A	ENST00000338883.4	-	4	548	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MAP3K15_ENST00000469203.2_Silent_p.F15F|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	183							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGTATGGGATGAAATAATAAT	0.493000													7	15					0	0	0.000274275	0	0
OR2G2	81470	broad.mit.edu	37	1	247751725	247751725	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751725G>C	ENST00000320065.1	+	1	64	c.64G>C	c.(64-66)Gat>Cat	p.D22H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGGTTTTCTGATTATCCTCA	0.413000													22	109					0	0	0.00106085	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65507551	65507551	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:65507551C>T	ENST00000355045.2	-	3	292	c.264G>A	c.(262-264)ccG>ccA	p.P88P	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CCAGGCCTCTCGGGCACTCTC	0.602000													37	153					0	0	0.000781405	0	0
TTLL3	26140	broad.mit.edu	37	3	9877038	9877038	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9877038C>T	ENST00000547186.1	+	13	2400	c.2184C>T	c.(2182-2184)ccC>ccT	p.P728P	TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.P871P|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	728					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTCGATTCCCCACTGCCCTTG	0.552000													23	78					0	0	0.000229342	0	0
PPP3CC	5533	broad.mit.edu	37	8	22398214	22398214	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:22398214C>A	ENST00000240139.5	+	14	1765	c.1438C>A	c.(1438-1440)Cga>Aga	p.R480R	PPP3CC_ENST00000289963.8_Silent_p.R470R|PPP3CC_ENST00000397775.3_Silent_p.R489R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	480					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AATGCCACCCCGAAAGGATAG	0.517000													5	94					0.000602214	0.00703214	0.000602214	1	0
RALB	5899	broad.mit.edu	37	2	121043653	121043653	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:121043653A>G	ENST00000272519.5	+	3	588	c.318A>G	c.(316-318)gaA>gaG	p.E106E	RALB_ENST00000420510.1_Silent_p.E106E|RALB_ENST00000474855.2_Silent_p.E128E|RALB_ENST00000404963.3_Silent_p.E127E|RALB_ENST00000470417.1_3'UTR	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CAACTGCCGAATTCAGGTATG	0.438000													3	79					0	0	6.4e-05	0	0
MACF1	23499	broad.mit.edu	37	1	39776610	39776610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:39776610G>A	ENST00000564288.1	+	26	3985	c.3208G>A	c.(3208-3210)Gcc>Acc	p.A1070T	MACF1_ENST00000372915.3_Missense_Mutation_p.A1075T|MACF1_ENST00000539005.1_Missense_Mutation_p.A1075T|MACF1_ENST00000567887.1_Missense_Mutation_p.A1107T|MACF1_ENST00000361689.2_Missense_Mutation_p.A1075T|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.A1075T|MACF1_ENST00000317713.7_Missense_Mutation_p.A1075T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1075					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGTCTCTAGCCAGCTCTAG	0.502000													42	63					0	0	0.000781405	0	0
GZMA	3001	broad.mit.edu	37	5	54398548	54398548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:54398548C>T	ENST00000274306.6	+	1	73	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	13					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCCTCTCTCTCAGTTGTCGTT	0.408000													43	67					0	0	0.000680045	0	0
GAK	2580	broad.mit.edu	37	4	845581	845581	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:845581C>T	ENST00000314167.4	-	25	3575	c.3465G>A	c.(3463-3465)gtG>gtA	p.V1155V	GAK_ENST00000511163.1_Silent_p.V1076V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1155					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGCCCCGATCACACTGAAGT	0.657000													10	28					0	0	0.00010058	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919937	13919937	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:13919937C>G	ENST00000254323.2	+	5	1104	c.915C>G	c.(913-915)ctC>ctG	p.L305L	ZSWIM4_ENST00000440752.2_Silent_p.L22L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	305							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGATTCTCATGACCGAGC	0.697000													15	42					0	0	0.000308642	0	0
IDO2	169355	broad.mit.edu	37	8	39806766	39806766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:39806766C>G	ENST00000502986.2	+	2	363	c.121C>G	c.(121-123)Ctt>Gtt	p.L41V	IDO2_ENST00000389060.4_Missense_Mutation_p.L28V|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	28					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						GTATGGCTTTCTTCTTCCAGA	0.383000													10	25					0	0	0.000442599	0	0
TMEM97	27346	broad.mit.edu	37	17	26646275	26646275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646275C>G	ENST00000226230.6	+	1	155	c.10C>G	c.(10-12)Ccg>Gcg	p.P4A	TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.P4A	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	4					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TATGGGGGCTCCGGCAACCAG	0.677000													6	25					0	0	8.12818e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41505787	41505787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:41505787C>G	ENST00000400454.1	-	19	4033	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1186					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACCATCCTCTTTGGTCCGG	0.597000													17	95					0	0	0.00074312	0	0
IDH3B	3420	broad.mit.edu	37	20	2640192	2640192	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:2640192C>T	ENST00000380843.4	-	11	1080	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	IDH3B_ENST00000380851.5_Silent_p.K350K|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	350					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TGATCACCTTCTTCACCGCAT	0.507000													64	367					0	0	0.000781405	0	0
TLR8	51311	broad.mit.edu	37	X	12937404	12937404	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:12937404C>G	ENST00000218032.6	+	2	332	c.245C>G	c.(244-246)tCa>tGa	p.S82*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.S100*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	82					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACGAATGAATCATTTCAAGGG	0.413000													5	187					0	0	0.000602214	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562188	32562188	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:32562188G>A	ENST00000345122.3	+	2	2628	c.2313G>A	c.(2311-2313)aaG>aaA	p.K771K	ARHGAP5_ENST00000556611.1_Silent_p.K771K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.K771K|ARHGAP5_ENST00000539826.2_Silent_p.K771K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	771					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGCCAATAAGGACTTATCAG	0.398000													18	71					0	0	0.000132079	0	0
DENND5B	160518	broad.mit.edu	37	12	31604993	31604993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:31604993C>T	ENST00000389082.5	-	5	1774	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E539K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E539K|DENND5B_ENST00000354285.4_Missense_Mutation_p.E526K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	504	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCAAAGACCTCTCGGAGCTGT	0.463000													40	136					0	0	0.000437636	0	0
ZNF791	163049	broad.mit.edu	37	19	12738664	12738664	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:12738664A>G	ENST00000343325.4	+	4	483	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.K75K|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCTGTGGAAAAGCCTTCATGC	0.433000													4	231					0	0	0.00024832	0	0
DGKH	160851	broad.mit.edu	37	13	42742882	42742882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:42742882C>T	ENST00000261491.5	+	11	1316	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	DGKH_ENST00000337343.4_Missense_Mutation_p.S432L|DGKH_ENST00000540693.1_Missense_Mutation_p.S432L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.S296L|DGKH_ENST00000379274.2_Missense_Mutation_p.S296L|DGKH_ENST00000538674.1_Missense_Mutation_p.S187L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta		DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGGGAGGTTCATATGACGAT	0.468000													30	116					0	0	0.000339439	0	0
ACTL10	170487	broad.mit.edu	37	20	32255546	32255546	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:32255546G>A	ENST00000330271.4	+	1	1243	c.243G>A	c.(241-243)aaG>aaA	p.K81K	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN	actin-like 10	81																	CACATCTCAAGAAGCGCAGCT	0.672000													6	32					0	0	0.000274275	0	0
MYH7	4625	broad.mit.edu	37	14	23884264	23884264	+	Silent	SNP	G	G	A	rs3729831		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:23884264G>A	ENST00000355349.3	-	37	5661	c.5499C>T	c.(5497-5499)aaC>aaT	p.N1833N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGACTCTGCGTTGCGCTTCT	0.652000													76	50					0	0	0.000781405	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768675	31768675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:31768675C>G	ENST00000355459.2	+	1	284	c.271C>G	c.(271-273)Ccc>Gcc	p.P91A		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCTGCAGTCCCTGCCAGAC	0.617000													11	45					0	0	0.00010058	0	0
PCDH9	5101	broad.mit.edu	37	13	67799716	67799716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:67799716C>T	ENST00000544246.1	-	2	3548	c.2857G>A	c.(2857-2859)Gac>Aac	p.D953N	PCDH9_ENST00000377861.3_Missense_Mutation_p.D953N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D953N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D953N|PCDH9_ENST00000377865.2_Missense_Mutation_p.D953N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	953					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACTGGAGTGTCTGGTTTGAGA	0.512000													37	134					0	0	0.000270559	0	0
SYT15	83849	broad.mit.edu	37	10	46967615	46967615	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:46967615C>T	ENST00000374323.4	-	3	1208	c.621G>A	c.(619-621)tcG>tcA	p.S207S	SYT15_ENST00000374321.4_Silent_p.S154S|SYT15_ENST00000374325.3_Silent_p.S154S|SYT15_ENST00000503753.1_Silent_p.S154S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATATTCCACCGAGAACCACA	0.622000													9	95					0	0	0.000274275	0	0
LXN	56925	broad.mit.edu	37	3	158386887	158386887	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:158386887G>A	ENST00000264265.3	-	4	619	c.405C>T	c.(403-405)ctC>ctT	p.L135L	GFM1_ENST00000264263.5_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	135						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATGTAGAACGAGCGTCATTT	0.313000													20	126					0	0	0.000175454	0	0
SOX12	6666	broad.mit.edu	37	20	306839	306839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:306839C>T	ENST00000342665.2	+	1	601	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.R91W	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	91					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCCGTTCGTGCGGGAGGCGGA	0.677000													6	30					0	0	3.59834e-05	0	0
ADAM11	4185	broad.mit.edu	37	17	42850284	42850284	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42850284C>T	ENST00000200557.6	+	9	907	c.738C>T	c.(736-738)atC>atT	p.I246I	ADAM11_ENST00000535346.1_Silent_p.I46I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	246	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TAATTGTGATCAACGACCACC	0.612000													9	29					0	0	0.000274275	0	0
FBL	2091	broad.mit.edu	37	19	40329725	40329725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:40329725C>T	ENST00000221801.3	-	5	612	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	167					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	p.G167R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GAGGCAGCCCCGAGGTAGAGA	0.602000													19	70					0	0	0.00074312	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397508	57397508	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57397508G>A	ENST00000300101.2	-	2	1279	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGAGAAAAGGAAAATACCAA	0.512000													35	44					0	0	0.000491102	0	0
XRN1	54464	broad.mit.edu	37	3	142122729	142122729	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:142122729C>T	ENST00000264951.4	-	17	2103	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	XRN1_ENST00000392981.2_Silent_p.L662L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	662					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATGTGTTTCAGAGTAGGAA	0.289000													22	177					0	0	0.000586117	0	0
HELZ2	85441	broad.mit.edu	37	20	62196802	62196802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196802C>T	ENST00000467148.1	-	8	3442	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E556K	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGCTCGGGCTCCGCGTGCAGC	0.701000													7	9					0	0	0.000978159	0	0
NAF1	92345	broad.mit.edu	37	4	164050300	164050300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:164050300G>C	ENST00000274054.2	-	8	1427	c.1234C>G	c.(1234-1236)Cag>Gag	p.Q412E	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	412					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.Q412*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTTGTCTCTGAGAAGGAAAT	0.502000													9	35					0	0	0.000442599	0	0
PRDM10	56980	broad.mit.edu	37	11	129817136	129817136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:129817136C>T	ENST00000358825.5	-	5	655	c.424G>A	c.(424-426)Gag>Aag	p.E142K	PRDM10_ENST00000526082.1_Missense_Mutation_p.E56K|PRDM10_ENST00000360871.3_Missense_Mutation_p.E142K|PRDM10_ENST00000304538.6_Missense_Mutation_p.E56K|PRDM10_ENST00000423662.2_Missense_Mutation_p.E56K|PRDM10_ENST00000528746.1_Missense_Mutation_p.E116K	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAGTGTCCTCGTCCTCATCC	0.582000													37	38					0	0	0.000228196	0	0
PLEC	5339	broad.mit.edu	37	8	144993101	144993101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144993101C>G	ENST00000322810.4	-	32	11468	c.11299G>C	c.(11299-11301)Gag>Cag	p.E3767Q	PLEC_ENST00000356346.3_Missense_Mutation_p.E3616Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3634Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3608Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3630Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3653Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3657Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3598Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3630Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3767	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGATGATCTCTGTCTTCTCA	0.612000													21	115					0	0	0.000586117	0	0
STIL	6491	broad.mit.edu	37	1	47728683	47728683	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:47728683C>A	ENST00000360380.3	-	16	3081	c.2718G>T	c.(2716-2718)ggG>ggT	p.G906G	STIL_ENST00000371877.3_Silent_p.G907G|STIL_ENST00000396221.2_Silent_p.G889G|STIL_ENST00000337817.5_Silent_p.G906G|STIL_ENST00000243182.6_Silent_p.G906G	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACTGGCACCCCCTGTTGGTC	0.433000													8	144					0.000274275	0.00323044	0.000274275	1	0
RASEF	158158	broad.mit.edu	37	9	85677430	85677430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:85677430G>T	ENST00000376447.3	-	1	613	c.353C>A	c.(352-354)tCg>tAg	p.S118*	RASEF_ENST00000340717.4_Nonsense_Mutation_p.S118*	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	118					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.S118L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CGGGCCGCACGAGGTGGCCAG	0.721000													13	19					2.23348e-06	2.70868e-05	0.000422831	1	0
PCLO	27445	broad.mit.edu	37	7	82580207	82580207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:82580207C>T	ENST00000333891.9	-	6	10034	c.9697G>A	c.(9697-9699)Gag>Aag	p.E3233K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3233K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAATTCCTCAGCAAAGCGC	0.443000													38	88					0	0	0.000228196	0	0
SZT2	23334	broad.mit.edu	37	1	43902989	43902989	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43902989C>G	ENST00000562955.1	+	42	6011	c.6011C>G	c.(6010-6012)tCt>tGt	p.S2004C	SZT2_ENST00000372442.1_Missense_Mutation_p.S1162C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2061						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ATGGGGGTCTCTCGGGGTATG	0.552000													20	90					0	0	0.000295444	0	0
ERP44	23071	broad.mit.edu	37	9	102861077	102861077	+	Missense_Mutation	SNP	G	G	A	rs140289515		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:102861077G>A	ENST00000262455.6	-	1	245	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	16					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGGAGCAGAAGGGAGCATCTG	0.637000													6	36					0	0	3.59834e-05	0	0
KMT2D	8085	broad.mit.edu	37	12	49420060	49420060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:49420060C>A	ENST00000301067.7	-	48	15688	c.15689G>T	c.(15688-15690)tGt>tTt	p.C5230F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCAATAGAACAGCGATAGCA	0.582000													33	47					5.8336e-16	7.3814e-15	0.00058488	1	0
NT5DC2	64943	broad.mit.edu	37	3	52558849	52558849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52558849C>T	ENST00000307076.4	-	13	1685	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	NT5DC2_ENST00000459839.1_Missense_Mutation_p.E441K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E370K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E466K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	429							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCCTGCCGCTCTTTCATCCAG	0.657000													9	31					0	0	0.000274275	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603142	111603142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:111603142C>T	ENST00000431670.2	+	2	629	c.218C>T	c.(217-219)tCt>tTt	p.S73F	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S100F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S73F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	73						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAAGCCCTTCTCCTTTGGGA	0.443000													131	301					0	0	0.000781405	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306789	99306789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99306789C>G	ENST00000336374.2	-	11	1124	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	374					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGCAGACCCTCTCAAGTCTCA	0.428000													19	106					0	0	0.000958276	0	0
TMEM143	55260	broad.mit.edu	37	19	48866581	48866581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:48866581G>C	ENST00000293261.3	-	2	547	c.231C>G	c.(229-231)ttC>ttG	p.F77L	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000435956.3_Missense_Mutation_p.F77L|TMEM143_ENST00000377431.2_Missense_Mutation_p.F77L|TMEM143_ENST00000436660.2_Missense_Mutation_p.F77L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	77						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCTCCTTGGAGAAGGGAATGA	0.652000													4	44					0	0	0.00024832	0	0
NFATC3	4775	broad.mit.edu	37	16	68248320	68248320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:68248320C>G	ENST00000329524.4	+	10	3219	c.3195C>G	c.(3193-3195)ttC>ttG	p.F1065L	NFATC3_ENST00000575270.1_Intron|NFATC3_ENST00000349223.5_Intron|NFATC3_ENST00000346183.3_Intron|NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.5_ENST00000569088.1_RNA	NM_004555.3	NP_004546.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	0					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAGCTCCTTTCTGGAGAATCT	0.453000													42	48					0	0	0.000437636	0	0
TSSC2	650368	broad.mit.edu	37	11	3426153	3426153	+	RNA	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:3426153G>T	ENST00000529482.1	+	0	845																											ATCCAGGTCTGCACCCCTTGG	0.612000													10	25					7.48243e-07	9.12856e-06	0.000442599	1	0
USPL1	10208	broad.mit.edu	37	13	31231851	31231851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:31231851C>T	ENST00000255304.4	+	9	1979	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	546					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAACAGCCTCAGTAACTCAC	0.433000													35	118					0	0	0.00058488	0	0
AQP7	364	broad.mit.edu	37	9	33387057	33387057	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33387057G>C	ENST00000539936.1	-	4	416	c.178C>G	c.(178-180)Cta>Gta	p.L60V	AQP7_ENST00000377425.4_Missense_Mutation_p.L3V|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	60					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTTTTATTTAGAACCATATGG	0.567000													5	50					0	0	3.59834e-05	0	0
EYS	346007	broad.mit.edu	37	6	66204970	66204970	+	Missense_Mutation	SNP	C	C	G	rs112609906	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:66204970C>G	ENST00000503581.1	-	4	871	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	EYS_ENST00000370616.2_Missense_Mutation_p.V112L|EYS_ENST00000370621.3_Missense_Mutation_p.V112L|EYS_ENST00000370618.3_Missense_Mutation_p.V112L|EYS_ENST00000342421.5_Missense_Mutation_p.V112L|EYS_ENST00000393380.2_Missense_Mutation_p.V112L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	112			V -> I.		response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACACAGCCAACGAAAGATGTT	0.373000													16	44					0	0	0.000422831	0	0
MUC17	140453	broad.mit.edu	37	7	100677336	100677336	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:100677336C>A	ENST00000306151.4	+	3	2703	c.2639C>A	c.(2638-2640)tCt>tAt	p.S880Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCACTTCTGCAATCAGC	0.498000													179	355					2.24612e-69	2.86872e-68	0.000781405	1	0
SCUBE1	80274	broad.mit.edu	37	22	43606163	43606163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:43606163C>T	ENST00000360835.4	-	19	2593	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGACGCATTCAGCGTTGGCT	0.627000													14	19					0	0	0.000151284	0	0
NCOR2	9612	broad.mit.edu	37	12	124968284	124968284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:124968284G>C	ENST00000356219.3	-	4	424	c.269C>G	c.(268-270)tCa>tGa	p.S90*	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.S90*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.S90*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.S90*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.S90*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	90					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCAGGTATGAGTGGGACTC	0.632000													2	6					0	0	6.4e-05	0	0
OR14K1	343170	broad.mit.edu	37	1	247902330	247902330	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247902330C>A	ENST00000283225.2	+	1	414	c.414C>A	c.(412-414)ctC>ctA	p.L138L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCAGAGGGCTCTGTGTCCAGT	0.532000													19	67					1.96292e-10	2.43844e-09	0.000175454	1	0
GPD2	2820	broad.mit.edu	37	2	157406241	157406241	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:157406241G>A	ENST00000310454.6	+	7	1155	c.783G>A	c.(781-783)ggG>ggA	p.G261G	GPD2_ENST00000438166.2_Silent_p.G261G|GPD2_ENST00000540309.1_Silent_p.G261G|GPD2_ENST00000409674.1_Silent_p.G261G|GPD2_ENST00000409125.4_Silent_p.G34G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	261					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CCCAGACAGGGAAAGTGCGTG	0.522000													7	18					0	0	0.000157383	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543046	133543046	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:133543046G>C	ENST00000409261.1	-	14	1711	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.L446L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	446							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATACTCCTTGAGGCTGCTAC	0.458000													14	44					0	0	0.000151284	0	0
THUMPD3	25917	broad.mit.edu	37	3	9424928	9424928	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9424928C>T	ENST00000345094.3	+	8	1504	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	THUMPD3_ENST00000515662.2_Silent_p.I390I|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Silent_p.I390I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	390							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)		AGTGGGATATCTGCAATCTGC	0.418000													18	128					0	0	0.000958276	0	0
SEPT11	55752	broad.mit.edu	37	4	77926942	77926942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:77926942G>A	ENST00000264893.6	+	3	532	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SEPT11_ENST00000541121.1_Missense_Mutation_p.D121N|SEPT11_ENST00000510515.1_Missense_Mutation_p.D121N|SEPT11_ENST00000502584.1_Missense_Mutation_p.D111N|SEPT11_ENST00000505788.1_Missense_Mutation_p.D111N|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	111					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GATAAATAAAGATGACAGGTA	0.423000													20	56					0	0	0.000175454	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	40					0	0	0.00024832	0	0
DYX1C1	161582	broad.mit.edu	37	15	55790518	55790518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790518G>A	ENST00000321149.3	-	2	377	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.Q4*|DYX1C1_ENST00000448430.2_Nonsense_Mutation_p.Q4*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.Q4*|DYX1C1_ENST00000380679.1_Nonsense_Mutation_p.Q4*	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	4	CS.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCGCTAACCTGAAGAGGCATT	0.592000													5	22					0	0	0.000602214	0	0
LIG3	3980	broad.mit.edu	37	17	33310224	33310224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33310224G>A	ENST00000378526.4	+	2	333	c.200G>A	c.(199-201)cGt>cAt	p.R67H	LIG3_ENST00000262327.5_Missense_Mutation_p.R67H|LIG3_ENST00000586407.1_Intron	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	67					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTAAGATCACGTGCCACCTAC	0.517000								Other BER factors					38	77					0	0	0.000228196	0	0
EXOC4	60412	broad.mit.edu	37	7	133502139	133502139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:133502139G>C	ENST00000253861.4	+	11	1605	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	EXOC4_ENST00000545148.1_Missense_Mutation_p.E136Q|EXOC4_ENST00000539845.1_Missense_Mutation_p.E425Q|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	526					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCCTCTTCGAGAGTTTCTCAC	0.413000													31	56					0	0	0.000692331	0	0
RRP1B	23076	broad.mit.edu	37	21	45104496	45104496	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45104496C>T	ENST00000340648.4	+	10	1071	c.954C>T	c.(952-954)caC>caT	p.H318H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	318					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ACACGCCCCACTTCAACAGGA	0.483000													18	80					0	0	0.000958276	0	0
TDGF1	6997	broad.mit.edu	37	3	46621544	46621544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:46621544G>A	ENST00000296145.5	+	5	1175	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	LRRC2_ENST00000296144.3_5'UTR|TDGF1_ENST00000542931.1_Missense_Mutation_p.G132S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	148					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATTTCTACCCGGCTGTGGTAA	0.547000													24	37					0	0	0.000184323	0	0
NBPF14	25832	broad.mit.edu	37	1	148004641	148004641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:148004641G>C	ENST00000369219.1	-	22	2689	c.2673C>G	c.(2671-2673)atC>atG	p.I891M				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	891	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGGCGAAGCTGATATGCTCTT	0.438000													158	192					0	0	0.000781405	0	0
GZMM	3004	broad.mit.edu	37	19	549010	549010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:549010G>A	ENST00000264553.3	+	4	475	c.437G>A	c.(436-438)aGc>aAc	p.S146N		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	146	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACTCGGTGCAGCATGGCCGGC	0.682000													6	19					0	0	3.59834e-05	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859020	31859020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:31859020G>A	ENST00000397525.1	-	6	908	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.Q229*|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.Q229*|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	229						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCAGACTGACTTGTGGGT	0.448000													17	55					0	0	0.000566183	0	0
CCNF	899	broad.mit.edu	37	16	2485829	2485829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2485829G>A	ENST00000397066.4	+	4	389	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	101					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGGGAATTTCGAAGCTGCTGT	0.458000													16	47					0	0	0.000308642	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473745	52473745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52473745C>T	ENST00000231721.2	-	12	1417	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	473	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TTCAGCTGAGCCCCCTGCCTG	0.622000													7	19					0	0	0.000157383	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565923	156565923	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:156565923A>G	ENST00000368232.4	-	7	558	c.426T>C	c.(424-426)atT>atC	p.I142I	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Splice_Site_p.I147I	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	142						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCAGTCAGACTGTTAGGGG	0.498000													3	113					0	0	6.4e-05	0	0
WDR52	55779	broad.mit.edu	37	3	113114608	113114608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113114608G>C	ENST00000393845.2	-	15	1945	c.1879C>G	c.(1879-1881)Ccc>Gcc	p.P627A	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.P627A	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	627										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGAGACATGGGAGACCACATT	0.343000													29	104					0	0	0.000339439	0	0
ZNF777	27153	broad.mit.edu	37	7	149129613	149129613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:149129613G>A	ENST00000247930.4	-	6	2073	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTGTGCCGGAAGCTGATC	0.642000													4	40					0	0	0.000602214	0	0
NOP2	4839	broad.mit.edu	37	12	6670928	6670928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6670928C>T	ENST00000541778.1	-	11	1585	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	NOP2_ENST00000537442.1_Missense_Mutation_p.G370E|NOP2_ENST00000545200.1_Missense_Mutation_p.G366E|NOP2_ENST00000399466.2_Missense_Mutation_p.G366E|NOP2_ENST00000382421.3_Missense_Mutation_p.G403E|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000322166.5_Missense_Mutation_p.G370E			P46087	NOP2_HUMAN	NOP2 nucleolar protein	370					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGGAGGCTCCCTGCAGCAT	0.607000													9	9					0	0	0.000274275	0	0
DDX4	54514	broad.mit.edu	37	5	55094377	55094377	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:55094377C>G	ENST00000505374.1	+	18	1685	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	DDX4_ENST00000511853.1_Silent_p.L382L|DDX4_ENST00000354991.5_Silent_p.L497L|DDX4_ENST00000514278.2_Silent_p.L511L|DDX4_ENST00000353507.5_Silent_p.L497L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	531	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGAAAAGCTCGTTGAAATTC	0.338000													35	60					0	0	0.000491102	0	0
SOCS6	9306	broad.mit.edu	37	18	67992477	67992477	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67992477G>A	ENST00000397942.3	+	2	889	c.573G>A	c.(571-573)ctG>ctA	p.L191L	SOCS6_ENST00000582322.1_Silent_p.L191L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	191					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATTCACTGAAGAGCTCGG	0.522000													25	65					0	0	0.000720815	0	0
NUDT10	170685	broad.mit.edu	37	X	51075911	51075911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:51075911G>A	ENST00000376006.3	+	2	314	c.94G>A	c.(94-96)Gag>Aag	p.E32K	NUDT10_ENST00000356450.2_Missense_Mutation_p.E32K	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	32	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCGCGAGGACGAGGTCCTGTT	0.687000													7	25					0	0	0.000157383	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734378	20734378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:20734378C>T	ENST00000382148.3	-	6	829	c.493G>A	c.(493-495)Gat>Aat	p.D165N	KCNIP4_ENST00000447367.2_Missense_Mutation_p.D156N|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D169N|KCNIP4_ENST00000382152.2_Missense_Mutation_p.D190N|KCNIP4_ENST00000509207.1_Missense_Mutation_p.D128N|KCNIP4_ENST00000359001.5_Missense_Mutation_p.D128N|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	190	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCCATCATATCGTATATTGCT	0.378000													17	44					0	0	0.00074312	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941994	111941994	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:111941994G>A	ENST00000530641.1	-	4	640	c.315C>T	c.(313-315)gtC>gtT	p.V105V	PIH1D2_ENST00000431456.1_Silent_p.V105V|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Silent_p.V105V|PIH1D2_ENST00000280350.4_Silent_p.V105V|PIH1D2_ENST00000532211.1_Silent_p.V105V			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	105										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CAACATCAATGACTGTGTAAG	0.358000													34	149					0	0	0.00111076	0	0
FAM57A	79850	broad.mit.edu	37	17	643751	643751	+	Missense_Mutation	SNP	C	C	T	rs144403190		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:643751C>T	ENST00000308278.8	+	4	651	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	139	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GCAGAGGCTCCGGGGAGACCT	0.517000													5	95					0	0	0.000602214	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													7	115	---	---	---	---					
MIR320B1	100302117	broad.mit.edu	37	1	117214384	117214385	+	RNA	INS	-	-	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:117214384_117214385insTT	ENST00000390209.2	+	0	14_15					NR_031564.1																						TAATCCCTCTCTTTCTAGTTCT	0.312													2	4	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													9	85	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204400888	204400889	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:204400888_204400889insA	ENST00000367187.3	-	29	4744_4745	c.4188_4189insT	c.(4186-4191)actcacfs	p.H1397fs	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H1369fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1397	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGGCCTCGTGAGTGTTCTCTC	0.535											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	171	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													30	62	---	---	---	---					
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571													7	292	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57606238	57606239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57606238_57606239insG	ENST00000243077.3	+	89	14001_14002	c.13535_13536insG	c.(13534-13539)atggggfs	p.MG4512fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4512	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACTCTACATGGGGGGCCATG	0.644													19	1893	---	---	---	---					
SLC25A30	253512	broad.mit.edu	37	13	45971416	45971417	+	In_Frame_Ins	INS	-	-	TAA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:45971416_45971417insTAA	ENST00000539591.1	-	8	820_821	c.657_658insTTA	c.(655-660)ttgaga>ttgTTAaga	p.219_220insL				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	270					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GGACCAAGTCTCAACCAATTTG	0.307													40	77	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097																											CTTCCCAATGAGAATCTCTGAA	0.426													7	34	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													9	104	---	---	---	---