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
SV2C	22987	broad.mit.edu	37	5	75427843	75427843	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:75427843G>C	ENST00000502798.2	+	2	710	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	SV2C_ENST00000322285.7_Missense_Mutation_p.E90Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	90					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.E90K(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGAGATCTATGAGGGGGAGTA	0.552000													9	16					0	0	0.000274275	0	0
WSB2	55884	broad.mit.edu	37	12	118472108	118472108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:118472108T>A	ENST00000315436.3	-	9	1249	c.1108A>T	c.(1108-1110)Aag>Tag	p.K370*	WSB2_ENST00000544233.1_Nonsense_Mutation_p.K160*|WSB2_ENST00000441406.2_Nonsense_Mutation_p.K387*|WSB2_ENST00000542304.1_Nonsense_Mutation_p.K145*|WSB2_ENST00000535496.1_Nonsense_Mutation_p.K372*	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	370	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATAAGTGCTTCAGTGAGGAC	0.478000													20	73					0	0	0.00121646	0	0
ZNF432	9668	broad.mit.edu	37	19	52538162	52538162	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:52538162C>G	ENST00000594154.1	-	5	982	c.770G>C	c.(769-771)aGa>aCa	p.R257T	ZNF432_ENST00000221315.5_Missense_Mutation_p.R257T			O94892	ZN432_HUMAN	zinc finger protein 432	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGATTTCTCTCTTTTATGAAT	0.378000													42	82					0	0	0.000509022	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768963	140768963	+	Silent	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:140768963C>A	ENST00000519479.1	+	1	1512	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACGTGTCCATAAGCGCGG	0.647000													4	62					0.000602214	0.00426227	0.000602214	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103438301	103438301	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:103438301G>A	ENST00000361246.2	-	13	2127	c.1839C>T	c.(1837-1839)gaC>gaT	p.D613D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	613					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCGCATGGCGTCCACCTTCT	0.572000													21	66					0	0	0.00121646	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965915	49965915	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:49965915G>A	ENST00000293350.4	+	8	1164	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R283Q|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R171Q|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R169Q	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	334							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGGAGTGGCCGAGGGCTGGAT	0.672000													14	64					0	0	0.000151284	0	0
CANX	821	broad.mit.edu	37	5	179137026	179137026	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:179137026G>C	ENST00000247461.4	+	7	881	c.681G>C	c.(679-681)aaG>aaC	p.K227N	CANX_ENST00000415618.2_Missense_Mutation_p.K262N|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.K227N|CANX_ENST00000512607.2_Missense_Mutation_p.K119N|CANX_ENST00000452673.2_Missense_Mutation_p.K227N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	227					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGATCTGAAGACCTATTTTA	0.358000													15	72					0	0	0.000422831	0	0
EIF3L	51386	broad.mit.edu	37	22	38259032	38259032	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr22:38259032C>T	ENST00000412331.2	+	6	1074	c.492C>T	c.(490-492)ttC>ttT	p.F164F	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Silent_p.F66F|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	164						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAATCTCTTCAACTACATTC	0.368000													119	44					0	0	0.000781405	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102514236	102514236	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:102514236G>A	ENST00000360184.4	+	73	13253	c.13089G>A	c.(13087-13089)aaG>aaA	p.K4363K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4363					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGAGAAGAAGACGAGGACAG	0.602000													11	37					0	0	0.000673444	0	0
BPTF	2186	broad.mit.edu	37	17	65850547	65850547	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:65850547G>A	ENST00000321892.4	+	2	1166	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	BPTF_ENST00000335221.5_Missense_Mutation_p.D369N|BPTF_ENST00000424123.3_Missense_Mutation_p.D230N|BPTF_ENST00000306378.6_Missense_Mutation_p.D369N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	369					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTTCTAGTCGATCAGTTTCT	0.418000													36	166					0	0	0.000692331	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902286	61902286	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:61902286C>T	ENST00000427159.2	-	9	1360	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	239					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCATAGCCTTCAGCCTTAGGA	0.557000													6	29					0	0	0.00116845	0	0
MIXL1	83881	broad.mit.edu	37	1	226413494	226413494	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:226413494C>A	ENST00000366810.5	+	2	744	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.S235Y			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	227					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CACATCTTTTCTGCCTTTGGT	0.473000													28	122					9.39395e-14	7.17088e-13	0.00106085	1	0
TULP2	7288	broad.mit.edu	37	19	49391423	49391423	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:49391423G>A	ENST00000221399.3	-	8	876	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	244					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TGCCACCCTCGCCTTTCAGGG	0.587000													13	59					0	0	0.000308642	0	0
BAG5	9529	broad.mit.edu	37	14	104027432	104027432	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:104027432C>G	ENST00000445922.2	-	2	316	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.E65Q|BAG5_ENST00000299204.4_Missense_Mutation_p.E24Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	24	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			ACTTGCTGTTCTACACTTTTT	0.373000													27	36					0	0	0.00106085	0	0
VAV2	7410	broad.mit.edu	37	9	136633664	136633664	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr9:136633664C>T	ENST00000371851.1	-	27	2784	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	VAV2_ENST00000371850.3_Missense_Mutation_p.R830Q|VAV2_ENST00000406606.3_Missense_Mutation_p.R791Q			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	830	SH3 2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTCATATCTCGGGCGGCAAA	0.632000													20	27					0	0	0.000958276	0	0
UGT1A6	54578	broad.mit.edu	37	2	234680956	234680956	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:234680956G>A	ENST00000305139.6	+	5	1489	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P	UGT1A1_ENST00000608381.1_Silent_p.P452P|UGT1A4_ENST00000373409.3_Silent_p.P452P|UGT1A9_ENST00000354728.4_Silent_p.P448P|UGT1A1_ENST00000609637.1_Silent_p.P448P|UGT1A10_ENST00000344644.5_Silent_p.P448P|UGT1A1_ENST00000373450.4_Silent_p.P448P|UGT1A1_ENST00000608383.1_Silent_p.P451P|UGT1A6_ENST00000373424.1_Silent_p.P183P|UGT1A8_ENST00000305208.5_Silent_p.P451P|UGT1A5_ENST00000373414.3_Silent_p.P452P|UGT1A1_ENST00000609767.1_Silent_p.P452P|UGT1A7_ENST00000373426.3_Silent_p.P448P|UGT1A3_ENST00000482026.1_Silent_p.P452P	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		AGGACCGCCCGGTGGAGCCGC	0.582000													11	55					0	0	0.000978159	0	0
CCDC40	55036	broad.mit.edu	37	17	78059903	78059903	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:78059903C>T	ENST00000397545.4	+	14	2364	c.2337C>T	c.(2335-2337)cgC>cgT	p.R779R	CCDC40_ENST00000374877.3_Silent_p.R779R	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	779					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGGCTGCGCCTGCAGCAGG	0.602000													11	45					0	0	0.000978159	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409783	26409783	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:26409783G>A	ENST00000289361.6	+	5	1106	c.738G>A	c.(736-738)caG>caA	p.Q246Q	BTN3A1_ENST00000425234.2_Silent_p.Q246Q|BTN3A1_ENST00000476549.2_Silent_p.Q246Q|BTN3A1_ENST00000414912.2_Silent_p.Q194Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	246					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGAGCGCCCAGAGGTGGATCG	0.627000													27	52					0	0	0.00127121	0	0
ALG14	199857	broad.mit.edu	37	1	95492794	95492794	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:95492794C>T	ENST00000370205.5	-	3	357	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TCTTGGAATTCGGTGAATGTA	0.443000													7	39					0	0	0.000157383	0	0
SNRPA	6626	broad.mit.edu	37	19	41268831	41268831	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:41268831C>T	ENST00000243563.3	+	4	1002	c.452C>T	c.(451-453)cCc>cTc	p.P151L		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	151	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTCAGGCGCCCCGCATTATG	0.657000													5	28					0	0	0.000602214	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879204	3879204	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr18:3879204G>A	ENST00000315677.3	-	4	1460	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R289W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R289W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R289W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	289					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TAAACCTCCCGGGCCCGGCTC	0.632000													37	50					0	0	0.000692331	0	0
AATF	26574	broad.mit.edu	37	17	35376310	35376310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:35376310C>T	ENST00000225402.5	+	9	1656	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	469	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CTAGCTCCTTCGAGAACTCAT	0.438000													12	53					0	0	0.00136819	0	0
FGGY	55277	broad.mit.edu	37	1	60125954	60125954	+	Missense_Mutation	SNP	C	C	G	rs76295402		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:60125954C>G	ENST00000371218.4	+	13	1541	c.1357C>G	c.(1357-1359)Caa>Gaa	p.Q453E	FGGY_ENST00000371212.1_Missense_Mutation_p.Q341E|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Missense_Mutation_p.Q130E|FGGY_ENST00000303721.7_Missense_Mutation_p.Q429E	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	429					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGCCACAGTTCAAGCCATTGC	0.453000													9	32					0	0	0.000274275	0	0
ARID1A	8289	broad.mit.edu	37	1	27099321	27099321	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:27099321G>A	ENST00000324856.7	+	14	3929	c.3558G>A	c.(3556-3558)ggG>ggA	p.G1186G	ARID1A_ENST00000457599.2_Silent_p.G1186G|ARID1A_ENST00000374152.2_Silent_p.G803G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1186					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTCAGTTGGGATCCAGGATG	0.463000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	9					0	0	8.12818e-05	0	0
ZNF827	152485	broad.mit.edu	37	4	146824297	146824297	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:146824297C>G	ENST00000508784.1	-	2	341	c.114G>C	c.(112-114)gaG>gaC	p.E38D	ZNF827_ENST00000379448.4_Missense_Mutation_p.E38D|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGACGGAGTCTCTGAAGAGT	0.522000													19	46					0	0	0.00074312	0	0
LRCH4	4034	broad.mit.edu	37	7	100175355	100175355	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:100175355C>G	ENST00000310300.6	-	9	1100	c.1048G>C	c.(1048-1050)Gac>Cac	p.D350H	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	350					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCACAGGGTCTCCGTCCGCT	0.652000													17	69					0	0	0.000566183	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064064	6064064	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:6064064G>A	ENST00000409021.3	-	10	1984	c.1535C>T	c.(1534-1536)aCg>aTg	p.T512M	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T512M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T347M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T327M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T512M	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	512	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.T512M(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCGTCCAGCGTGCCTCCCAC	0.677000													20	58					0	0	0.000229342	0	0
COL14A1	7373	broad.mit.edu	37	8	121309768	121309768	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:121309768G>C	ENST00000297848.3	+	35	4525	c.4255G>C	c.(4255-4257)Gat>Cat	p.D1419H	COL14A1_ENST00000247781.3_Missense_Mutation_p.D1324H|COL14A1_ENST00000309791.4_Missense_Mutation_p.D1419H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1419	Nonhelical region (NC4).|TSP N-terminal.				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)			ACAGATGTTTGATATTGTTTG	0.264000													7	26					0	0	0.000274275	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192352	102192352	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chrX:102192352G>A	ENST00000218249.5	+	1	153	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	36					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GAGCCTGCAGGACGGCACGGC	0.652000													26	38					0	0	0.000586117	0	0
LYVE1	10894	broad.mit.edu	37	11	10580771	10580771	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:10580771C>G	ENST00000256178.3	-	6	1014	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.E182Q|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	286					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TTGGCCTTCTCCTCCTTTACT	0.408000													23	59					0	0	0.000229342	0	0
ADCK4	79934	broad.mit.edu	37	19	41215975	41215975	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:41215975C>T	ENST00000324464.3	-	5	657	c.356G>A	c.(355-357)cGt>cAt	p.R119H	ADCK4_ENST00000450541.1_Missense_Mutation_p.R119H|ADCK4_ENST00000243583.6_Missense_Mutation_p.R119H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	119						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGACTGCAGACGACCTCCTGG	0.572000													12	32					0	0	0.000978159	0	0
PTPN13	5783	broad.mit.edu	37	4	87689034	87689034	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:87689034C>T	ENST00000436978.1	+	28	4889	c.4409C>T	c.(4408-4410)cCa>cTa	p.P1470L	PTPN13_ENST00000316707.6_Missense_Mutation_p.P1274L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P1470L|PTPN13_ENST00000427191.2_Missense_Mutation_p.P1446L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P1465L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1465						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCGGTAACCCCACAGTGTACC	0.408000													3	4					0	0	6.4e-05	0	0
PET112	5188	broad.mit.edu	37	4	152624955	152624955	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:152624955G>A	ENST00000512306.1	-	8	1057	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PET112_ENST00000263985.6_Intron|PET112_ENST00000515812.1_Intron			O75879	GATB_HUMAN	PET112 homolog (yeast)	0						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAATACGCCCCAGCCCC	0.393000													18	28					0	0	0.000958276	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003287	23003287	+	Silent	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:23003287A>G	ENST00000312584.3	-	5	724	c.630T>C	c.(628-630)taT>taC	p.Y210Y		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	210					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TAAGGTAGTGATAGGGAGAGG	0.458000													22	29					0	0	0.000295444	0	0
ACOT7	11332	broad.mit.edu	37	1	6393576	6393576	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:6393576C>T	ENST00000361521.4	-	4	1462	c.471G>A	c.(469-471)ctG>ctA	p.L157L	ACOT7_ENST00000377855.2_Silent_p.L167L|ACOT7_ENST00000541130.1_Silent_p.L137L|ACOT7_ENST00000377845.3_Silent_p.L137L|ACOT7_ENST00000377842.3_Silent_p.L116L|ACOT7_ENST00000545482.1_Silent_p.L52L|ACOT7_ENST00000608083.1_Silent_p.L125L	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	167						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CCACATTCTTCAGCGACAGGG	0.542000													9	44					0	0	0.000673444	0	0
MDN1	23195	broad.mit.edu	37	6	90368362	90368362	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:90368362C>T	ENST00000369393.3	-	89	15103	c.14988G>A	c.(14986-14988)gaG>gaA	p.E4996E	MDN1_ENST00000428876.1_Silent_p.E4996E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4996					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGGCCATTCTCTCCACCTT	0.478000													27	70					0	0	0.000878237	0	0
FUS	2521	broad.mit.edu	37	16	31195709	31195709	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:31195709G>C	ENST00000254108.7	+	5	620	c.515G>C	c.(514-516)gGa>gCa	p.G172A	FUS_ENST00000568685.1_Missense_Mutation_p.G172A|FUS_ENST00000380244.3_Missense_Mutation_p.G171A	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	172	Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggaggtggaggtggaggt	0.483000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								9	40					0	0	0.000274275	0	0
MROH9	80133	broad.mit.edu	37	1	170967299	170967299	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:170967299C>G	ENST00000367759.4	+	15	1634	c.1480C>G	c.(1480-1482)Ctc>Gtc	p.L494V	MROH9_ENST00000367758.3_Missense_Mutation_p.L494V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TTACAGAACTCTCAGTGAATA	0.398000													11	89					0	0	0.00136819	0	0
DUSP28	285193	broad.mit.edu	37	2	241500749	241500749	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:241500749G>A	ENST00000405954.1	+	2	779	c.396G>A	c.(394-396)atG>atA	p.M132I	DUSP28_ENST00000343217.2_Missense_Mutation_p.M132I			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	132	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		GTTTGCAGATGGTGAAGAGCG	0.632000													16	24					0	0	0.000308642	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	124					0	0	0.00116845	0	0
LOC645752	645752	broad.mit.edu	37	15	78215340	78215340	+	RNA	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr15:78215340C>T	ENST00000567226.1	-	0	237																											ACTGCTAGTTCTTGGTACTGG	0.502000													12	73					0	0	0.00136819	0	0
LPAR3	23566	broad.mit.edu	37	1	85331465	85331465	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:85331465C>G	ENST00000440886.1	-	1	377	c.339G>C	c.(337-339)ttG>ttC	p.L113F	LPAR3_ENST00000370611.3_Missense_Mutation_p.L113F|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	113					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGGAAGCAGTCAAGCTACTGT	0.498000													63	203					0	0	0.000781405	0	0
FBXO2	26232	broad.mit.edu	37	1	11708841	11708841	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:11708841G>A	ENST00000354287.4	-	6	1142	c.801C>T	c.(799-801)gtC>gtT	p.V267V		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	267	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCGAAGCGGACGAAGCGGA	0.672000													15	112					0	0	0.00152264	0	0
CLTA	1211	broad.mit.edu	37	9	36209262	36209262	+	Splice_Site	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr9:36209262A>G	ENST00000433436.2	+	5	686		c.e5-1		CLTA_ENST00000466396.1_Splice_Site|CLTA_ENST00000242285.6_Splice_Site|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000538225.1_Intron|CLTA_ENST00000470744.1_Intron|CLTA_ENST00000396603.2_Splice_Site|CLTA_ENST00000345519.5_Intron	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CTTGCTGTCTAGGGTGGCAGA	0.413000													7	27					0	0	0.000274275	0	0
OR4M1	441670	broad.mit.edu	37	14	20248638	20248638	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:20248638C>T	ENST00000315957.4	+	1	238	c.157C>T	c.(157-159)Cct>Tct	p.P53S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGCTAGACCCTCATCTGAC	0.413000													84	481					0	0	0.000781405	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901258	61901258	+	Silent	SNP	C	C	T	rs141059832		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:61901258C>T	ENST00000427159.2	-	13	1854	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	403					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GATCCATCTTCAGCTCCACAC	0.577000													12	86					0	0	0.000978159	0	0
TTLL3	26140	broad.mit.edu	37	3	9854767	9854767	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:9854767G>A	ENST00000397241.1	+	0	405				ARPC4-TTLL3_ENST00000397256.1_Silent_p.A157A|TTLL3_ENST00000547186.1_Silent_p.A63A|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Silent_p.A206A			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						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)					ATAGCTCAGCGATGGGTGACA	0.587000													10	25					0	0	0.000673444	0	0
ARNT	405	broad.mit.edu	37	1	150818775	150818775	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:150818775T>C	ENST00000358595.5	-	4	391	c.191A>G	c.(190-192)gAt>gGt	p.D64G	ARNT_ENST00000354396.2_Missense_Mutation_p.D64G|ARNT_ENST00000515192.1_Missense_Mutation_p.D55G|ARNT_ENST00000505755.1_Missense_Mutation_p.D64G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	64					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATCTGATCATCATCACACCT	0.333000			T	ETV6	AML								15	36					0	0	0.000566183	0	0
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:109371692T>C	ENST00000283195.6	+	17	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	815					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348000													4	153					0	0	0.00024832	0	0
GBF1	8729	broad.mit.edu	37	10	104119115	104119115	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:104119115C>T	ENST00000369983.3	+	11	1360	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	367					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCGACCACTCTGACTCTGCC	0.557000													13	30					0	0	0.000151284	0	0
CTNND1	1500	broad.mit.edu	37	11	57575682	57575682	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:57575682C>T	ENST00000524630.1	+	12	2504	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	CTNND1_ENST00000529873.1_Missense_Mutation_p.S610L|CTNND1_ENST00000533667.1_Missense_Mutation_p.S341L|CTNND1_ENST00000361796.4_Missense_Mutation_p.S664L|CTNND1_ENST00000529919.1_Missense_Mutation_p.S670L|CTNND1_ENST00000532844.1_Missense_Mutation_p.S616L|CTNND1_ENST00000361391.6_Missense_Mutation_p.S664L|CTNND1_ENST00000532463.1_Missense_Mutation_p.S563L|CTNND1_ENST00000526772.1_Missense_Mutation_p.S341L|CTNND1_ENST00000530094.1_Missense_Mutation_p.S563L|CTNND1_ENST00000428599.2_Missense_Mutation_p.S664L|CTNND1_ENST00000415361.2_Missense_Mutation_p.S569L|CTNND1_ENST00000526357.1_Missense_Mutation_p.S610L|CTNND1_ENST00000358694.6_Missense_Mutation_p.S664L|CTNND1_ENST00000532649.1_Missense_Mutation_p.S610L|CTNND1_ENST00000525902.1_Missense_Mutation_p.S347L|CTNND1_ENST00000529526.1_Missense_Mutation_p.S610L|CTNND1_ENST00000532787.1_Missense_Mutation_p.S563L|CTNND1_ENST00000534579.1_Missense_Mutation_p.S610L|CTNND1_ENST00000399050.4_Missense_Mutation_p.S670L|CTNND1_ENST00000360682.6_Missense_Mutation_p.S670L|CTNND1_ENST00000532245.1_Missense_Mutation_p.S563L|CTNND1_ENST00000526938.1_Missense_Mutation_p.S670L|CTNND1_ENST00000530748.1_Missense_Mutation_p.S616L|CTNND1_ENST00000529986.1_Missense_Mutation_p.S563L|CTNND1_ENST00000399039.4_Missense_Mutation_p.S670L|CTNND1_ENST00000528232.1_Missense_Mutation_p.S569L|CTNND1_ENST00000361332.4_Missense_Mutation_p.S664L|CTNND1_ENST00000527467.1_Missense_Mutation_p.S347L|CTNND1_ENST00000531014.1_Missense_Mutation_p.S341L|CTNND1_ENST00000426142.2_Missense_Mutation_p.S563L|CTNND1_ENST00000528621.1_Missense_Mutation_p.S610L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	670					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATATACATCTCACTTCTTAAG	0.483000													7	44					0	0	8.12818e-05	0	0
PPARG	5468	broad.mit.edu	37	3	12434122	12434122	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:12434122C>T	ENST00000397026.2	+	6	807	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	PPARG_ENST00000309576.6_Missense_Mutation_p.R136W|PPARG_ENST00000397012.2_Missense_Mutation_p.R136W|PPARG_ENST00000397015.2_Missense_Mutation_p.R136W|PPARG_ENST00000539812.1_Missense_Mutation_p.R134W|PPARG_ENST00000397000.1_Missense_Mutation_p.R136W|PPARG_ENST00000397010.2_Missense_Mutation_p.R136W|PPARG_ENST00000287820.6_Missense_Mutation_p.R164W			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	164					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GGGTTTCTTCCGGAGAACAAT	0.388000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						9	38					0	0	0.000978159	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626903	108626903	+	Silent	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:108626903C>A	ENST00000264047.2	+	9	1605	c.1329C>A	c.(1327-1329)ctC>ctA	p.L443L	SLC5A7_ENST00000540517.1_Silent_p.L338L|SLC5A7_ENST00000409059.1_Silent_p.L443L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	443					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTCTGGCCTCTTCCTGAGAA	0.448000													19	46					1.33834e-09	1.00582e-08	0.000958276	1	0
RMND1	55005	broad.mit.edu	37	6	151757629	151757629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:151757629G>A	ENST00000367303.4	-	3	687	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	RMND1_ENST00000336451.3_5'UTR|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	189										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GCCAGATCTTGAGACAGATTT	0.443000													17	44					0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82784516	82784516	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:82784516G>C	ENST00000333891.9	-	2	1778	c.1441C>G	c.(1441-1443)Cct>Gct	p.P481A	PCLO_ENST00000423517.2_Missense_Mutation_p.P481A	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-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						GGCTGTTGAGGTGGGGGCTTT	0.597000													17	51					0	0	0.00121646	0	0
RGS18	64407	broad.mit.edu	37	1	192153520	192153520	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:192153520C>G	ENST00000367460.3	+	5	725	c.544C>G	c.(544-546)Cag>Gag	p.Q182E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	182	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGTGTATCAGCTCATGGA	0.403000													9	75					0	0	0.000274275	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65713200	65713200	+	RNA	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:65713200G>A	ENST00000608857.1	+	0	54				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						TTAGGACCCCGTCGGTGTGAC	0.612000													12	34					0	0	0.00136819	0	0
PCDH12	51294	broad.mit.edu	37	5	141336347	141336347	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:141336347G>A	ENST00000231484.3	-	1	2280	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	357	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTGGGAGGCCCATGTGAC	0.507000													18	44					0	0	0.00121646	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879451	12879451	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:12879451C>T	ENST00000524591.2	+	5	1752	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	421							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGGAGCTCTGCAGTCTGCTCA	0.463000													6	8					0	0	8.12818e-05	0	0
ADCY6	112	broad.mit.edu	37	12	49165690	49165690	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:49165690G>C	ENST00000307885.4	-	18	3548	c.2854C>G	c.(2854-2856)Ctg>Gtg	p.L952V	ADCY6_ENST00000550422.1_Missense_Mutation_p.L899V|ADCY6_ENST00000357869.3_Missense_Mutation_p.L899V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	952					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCTTGGGCAGAATGTTATGC	0.577000													8	39					0	0	0.000157383	0	0
CLEC5A	23601	broad.mit.edu	37	7	141643715	141643715	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:141643715G>A	ENST00000546910.1	-	4	385	c.189C>T	c.(187-189)acC>acT	p.T63T	CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	63					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AGCTCCTTGTGGTAATGAAGC	0.418000													20	81					0	0	0.000229342	0	0
CA1	759	broad.mit.edu	37	8	86250639	86250639	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:86250639C>G	ENST00000523953.1	-	4	1123	c.77G>C	c.(76-78)gGa>gCa	p.G26A	CA1_ENST00000542576.1_Missense_Mutation_p.G26A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.G26A|CA1_ENST00000432364.2_Missense_Mutation_p.G26A|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.G26A|CA1_ENST00000431316.1_Missense_Mutation_p.G26A			P00915	CAH1_HUMAN	carbonic anhydrase I	26					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGTTATTTCCATTGGCAAT	0.418000													27	90					0	0	0.000878237	0	0
FTH1	2495	broad.mit.edu	37	11	61732365	61732365	+	Splice_Site	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:61732365T>C	ENST00000273550.7	-	4	622		c.e4-2		FTH1_ENST00000526640.1_Splice_Site|FTH1_ENST00000532601.1_Splice_Site|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1						cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GTCACACAACTGCAAAACAAT	0.483000													52	42					0	0	0.000781405	0	0
INTS1	26173	broad.mit.edu	37	7	1521019	1521019	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:1521019G>C	ENST00000389470.4	-	29	4294	c.4295C>G	c.(4294-4296)gCc>gGc	p.A1432G	INTS1_ENST00000404767.3_Missense_Mutation_p.A1270G			Q8N201	INT1_HUMAN	integrator complex subunit 1	1270					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGGTCGTGGGCCACTGCCTG	0.627000													6	30					0	0	0.000157383	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1																						TCACCTAGCTCGGTGGTGAAC	0.652000													5	62					0	0	0.000673444	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561483	11561483	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:11561483C>A	ENST00000294484.6	+	2	572	c.434C>A	c.(433-435)tCc>tAc	p.S145Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S145Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	145					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACTTCACCTCCGAGACGCTT	0.657000													18	24					0.000566183	0.00402681	0.000566183	1	0
FTSJ3	117246	broad.mit.edu	37	17	61901285	61901285	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:61901285C>T	ENST00000427159.2	-	13	1827	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	394					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGCTTTCTCTGCTCACGCA	0.542000													9	76					0	0	0.000274275	0	0
DGKG	1608	broad.mit.edu	37	3	185985551	185985551	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:185985551C>T	ENST00000265022.3	-	13	1671	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	DGKG_ENST00000544847.1_Missense_Mutation_p.E339K|DGKG_ENST00000382164.4_Missense_Mutation_p.E339K|DGKG_ENST00000344484.4_Missense_Mutation_p.E378K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	378					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTTGATAATTCACATTTGCGG	0.517000													10	60					0	0	0.000978159	0	0
CAP2	10486	broad.mit.edu	37	6	17514185	17514185	+	Splice_Site	SNP	A	A	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:17514185A>C	ENST00000229922.2	+	7	1168	c.636A>C	c.(634-636)acA>acC	p.T212T	CAP2_ENST00000378990.2_Splice_Site_p.T186T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	212					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGAGCAAAACAGTGAGTACGA	0.453000													7	103					0	0	0.000274275	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261893	125261893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:125261893G>T	ENST00000431078.1	+	8	1448	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	362					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCTGCTCCGAACCACAGAT	0.453000													22	28					9.86323e-18	7.60878e-17	0.000586117	1	0
PPP1R15B	84919	broad.mit.edu	37	1	204379408	204379408	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:204379408C>T	ENST00000367188.4	-	1	1511	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	378					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGGCTCTCTTCTTCCAAAGCA	0.448000													19	69					0	0	0.00074312	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102895249	102895249	+	RNA	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:102895249G>A	ENST00000312132.4	-	0	2595																											TTCCATATATGAAGAACAATC	0.328000													5	12					0	0	0.00116845	0	0
EGR2	1959	broad.mit.edu	37	10	64573588	64573588	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:64573588G>A	ENST00000242480.3	-	2	1135	c.810C>T	c.(808-810)aaC>aaT	p.N270N	EGR2_ENST00000411732.1_Silent_p.N220N|EGR2_ENST00000439032.1_Silent_p.N270N	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	270					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAGGGTAAAGTTACGGATTG	0.657000													7	23					0	0	0.000157383	0	0
CTSB	1508	broad.mit.edu	37	8	11705206	11705206	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:11705206T>G	ENST00000353047.6	-	7	911	c.658A>C	c.(658-660)Aaa>Caa	p.K220Q	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.K220Q|CTSB_ENST00000345125.3_Missense_Mutation_p.K220Q|CTSB_ENST00000531089.1_Missense_Mutation_p.K220Q|CTSB_ENST00000530640.2_Missense_Mutation_p.K220Q|CTSB_ENST00000453527.2_Missense_Mutation_p.K220Q|CTSB_ENST00000534510.1_Missense_Mutation_p.K220Q|CTSB_ENST00000533455.1_Missense_Mutation_p.K220Q	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	220					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TTGTCCTGTTTGTAGGTCGGG	0.652000													18	51					0	0	0.000229342	0	0
UAP1	6675	broad.mit.edu	37	1	162560228	162560228	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:162560228C>T	ENST00000271469.3	+	8	1587	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	UAP1_ENST00000367925.1_Missense_Mutation_p.H429Y|UAP1_ENST00000367924.1_Missense_Mutation_p.H429Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H429Y			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	429					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GATGTCCCTTCATCATTGCTG	0.448000													13	106					0	0	0.000219431	0	0
TRIM49C	642612	broad.mit.edu	37	11	89768595	89768595	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:89768595G>T	ENST00000448984.1	+	3	545	c.216G>T	c.(214-216)aaG>aaT	p.K72N	TRIM49C_ENST00000432771.1_Missense_Mutation_p.K72N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	72						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						ATTTGAAGAAGATGGCTTCTC	0.443000													5	16					1.06961e-07	7.83666e-07	0.000157383	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2343228	2343228	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:2343228C>T	ENST00000290974.2	-	3	634	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	ZFYVE28_ENST00000509171.1_Missense_Mutation_p.G52S|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.G99S|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.G29S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G29S|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G99S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	99					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACAGCTGGCCGGCCAGGTTG	0.622000													8	16					0	0	0.000157383	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897624	61897624	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:61897624C>T	ENST00000427159.2	-	19	2892	c.2247G>A	c.(2245-2247)aaG>aaA	p.K749K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	749					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCCTCCTTTTCTTTCTAGCCT	0.552000													18	99					0	0	0.00121646	0	0
NCOA5	57727	broad.mit.edu	37	20	44693810	44693810	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr20:44693810C>G	ENST00000290231.6	-	6	851	c.687G>C	c.(685-687)ttG>ttC	p.L229F		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAAGGAAGATCAAGTCCACTA	0.483000													50	103					0	0	0.000781405	0	0
STON2	85439	broad.mit.edu	37	14	81744519	81744519	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:81744519G>C	ENST00000555447.1	-	6	1548	c.1136C>G	c.(1135-1137)tCt>tGt	p.S379C	STON2_ENST00000267540.2_Missense_Mutation_p.S379C	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	379					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AACAGCATCAGAGTGTGACTG	0.443000													14	36					0	0	0.000151284	0	0
DNAH7	56171	broad.mit.edu	37	2	196722243	196722243	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:196722243C>T	ENST00000312428.6	-	44	8372	c.8272G>A	c.(8272-8274)Gac>Aac	p.D2758N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2758	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAATATTGTCCTTGTCATAT	0.388000													16	47					0	0	0.000308642	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515472	56515472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:56515472G>T	ENST00000257940.2	+	3	1402	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	376	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			AATTGCCCAGGGAATGGCACC	0.602000													10	29					0.000673444	0.00474339	0.000673444	1	0
RB1CC1	9821	broad.mit.edu	37	8	53569704	53569704	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:53569704C>T	ENST00000025008.5	-	15	3208	c.2685G>A	c.(2683-2685)ttG>ttA	p.L895L	RB1CC1_ENST00000539297.1_Silent_p.L895L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.L895L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	895					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTCTCCCTTCAATTTTTTAA	0.303000													21	63					0	0	0.00152264	0	0
CDH8	1006	broad.mit.edu	37	16	61689434	61689434	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:61689434G>C	ENST00000577390.1	-	11	2800	c.1846C>G	c.(1846-1848)Cca>Gca	p.P616A	CDH8_ENST00000577730.1_Missense_Mutation_p.P616A|CDH8_ENST00000299345.6_Missense_Mutation_p.P616A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	616	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTCCAATTGGAAGGACATAA	0.473000													16	33					0	0	0.000308642	0	0
NOTCH1	4851	broad.mit.edu	37	9	139409805	139409805	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr9:139409805C>T	ENST00000277541.6	-	12	2026	c.1951G>A	c.(1951-1953)Gac>Aac	p.D651N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	651	EGF-like 17; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCCGAGTCGCAGGGGCTG	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			22	47					0	0	0.000720815	0	0
FSIP1	161835	broad.mit.edu	37	15	40018923	40018923	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr15:40018923G>A	ENST00000350221.3	-	9	1126	c.917C>T	c.(916-918)cCa>cTa	p.P306L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	306										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCCTTTTACTGGGACCACCCA	0.443000													9	34					0	0	0.000673444	0	0
CCDC18	343099	broad.mit.edu	37	1	93646392	93646392	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:93646392G>A	ENST00000557479.1	+	1	473	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACTCGAGTGCGAAGCGCGCAG	0.657000													6	33					0	0	0.000157383	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728896	3728896	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr20:3728896G>A	ENST00000254963.2	+	8	853	c.708G>A	c.(706-708)caG>caA	p.Q236Q	HSPA12B_ENST00000542646.1_Silent_p.Q70Q	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	236							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ATGCAGAGCAGCTACTCATCG	0.662000													21	107					0	0	0.000229342	0	0
PLXND1	23129	broad.mit.edu	37	3	129285420	129285420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:129285420G>A	ENST00000393239.1	-	23	4319	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	PLXND1_ENST00000324093.4_Nonsense_Mutation_p.Q1381*			Q9Y4D7	PLXD1_HUMAN	plexin D1	1381					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGCTGCCCTGGGAGTTGAGG	0.632000													8	23					0	0	0.000274275	0	0
MUC5B	727897	broad.mit.edu	37	11	1248106	1248106	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:1248106G>A	ENST00000447027.1	+	4	519	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	MUC5B_ENST00000529681.1_Splice_Site_p.R154Q			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	154	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AATGGGCAGCGGTGAGCCGGC	0.706000													7	5					0	0	8.12818e-05	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962802	94962802	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:94962802G>C	ENST00000341228.2	-	4	1608	c.813C>G	c.(811-813)atC>atG	p.I271M	SERPINA12_ENST00000556881.1_Missense_Mutation_p.I271M	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	271					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GAAGGATGAAGATGGCTGTGA	0.468000													22	89					0	0	0.000375601	0	0
GPR4	2828	broad.mit.edu	37	19	46094162	46094162	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:46094162G>A	ENST00000323040.4	-	2	1907	c.963C>T	c.(961-963)ctC>ctT	p.L321L	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	321						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCTCCAGGGTGAGCGAGGCAT	0.667000													8	85					0	0	0.000157383	0	0
GPR26	2849	broad.mit.edu	37	10	125447475	125447475	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:125447475C>T	ENST00000284674.1	+	3	866	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	271					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGGTGCCCATCGGCTCCCACT	0.597000													11	61					0	0	0.00136819	0	0
ENPP6	133121	broad.mit.edu	37	4	185045324	185045324	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:185045324C>T	ENST00000296741.2	-	3	664	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	175					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTGAAGGAGTCAAGAGCATCG	0.443000													23	41					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179636044	179636044	+	Silent	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:179636044A>G	ENST00000589042.1	-	34	8234	c.8010T>C	c.(8008-8010)gaT>gaC	p.D2670D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.D2670D|TTN_ENST00000460472.2_Silent_p.D2624D|TTN_ENST00000342175.6_Silent_p.D2624D|TTN_ENST00000342992.6_Silent_p.D2670D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.D2624D|TTN_ENST00000360870.5_Silent_p.D2670D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2406	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGTGGCCATCAGACTCAC	0.448000													10	30					0	0	0.000978159	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511495	58511495	+	RNA	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:58511495G>A	ENST00000588627.1	-	0	1862																											CCGATCTTGGGGGCCAGGGCA	0.572000													6	20					0	0	0.00116845	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1846619	1846619	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:1846619C>T	ENST00000518288.1	+	16	1813	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	ARHGEF10_ENST00000349830.3_Silent_p.P526P|ARHGEF10_ENST00000520359.1_Silent_p.P488P|ARHGEF10_ENST00000398564.1_Silent_p.P551P|ARHGEF10_ENST00000262112.6_Silent_p.P551P|ARHGEF10_ENST00000398560.1_Silent_p.P512P			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	551	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGGCCAGCCCCGATCGAACCA	0.647000													5	21					0	0	0.000602214	0	0
GABARAP	11337	broad.mit.edu	37	17	7144702	7144702	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:7144702C>T	ENST00000302386.5	-	3	686	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000573928.1_Missense_Mutation_p.V83I|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571253.1_5'UTR	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	83	Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding			breast(1)|lung(2)	3						GGTGGAATGACATTGTTGACA	0.493000													73	157					0	0	0.000781405	0	0
MUC5B	727897	broad.mit.edu	37	11	1272463	1272463	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:1272463G>C	ENST00000447027.1	+	31	14420	c.14362G>C	c.(14362-14364)Gag>Cag	p.E4788Q	MUC5B_ENST00000529681.1_Missense_Mutation_p.E4785Q			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4785	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCTACTCCAGAGACCACCCA	0.622000													21	52					0	0	0.00152264	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													5	75					0	0	0.000442599	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436946	6436946	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:6436946A>G	ENST00000449001.2	+	14	2595	c.2101A>G	c.(2101-2103)Atg>Gtg	p.M701V	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.M733V|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.M733V|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.M263V	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	733					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCTGCGCCCAATGCGGGCTGA	0.652000													14	14					0	0	0.000219431	0	0
SRBD1	55133	broad.mit.edu	37	2	45808903	45808903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:45808903C>A	ENST00000263736.4	-	6	924	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	288					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATCTTCCCTTCCTTCTTAATT	0.323000													6	32					2.0095e-06	1.45764e-05	8.12818e-05	1	0
AASS	10157	broad.mit.edu	37	7	121738825	121738825	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:121738825C>G	ENST00000393376.1	-	13	1597	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R501T			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	501	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGCCATCTCTTGATAAATA	0.353000													15	31					0	0	0.000219431	0	0
POLR2C	5432	broad.mit.edu	37	16	57500100	57500100	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:57500100C>T	ENST00000219252.5	+	4	557	c.219C>T	c.(217-219)ctC>ctT	p.L73L	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	73					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TAATTCCCCTCATTAGTGATG	0.458000													43	172					0	0	0.000781405	0	0
ELMO3	79767	broad.mit.edu	37	16	67236566	67236566	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:67236566C>G	ENST00000393997.2	+	15	1651	c.1594C>G	c.(1594-1596)Ctg>Gtg	p.L532V	ELMO3_ENST00000477898.1_Missense_Mutation_p.L366V|ELMO3_ENST00000360833.1_Missense_Mutation_p.L515V	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	479					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGCCCGCACTCTGGCCCTGAA	0.657000													16	36					0	0	0.000308642	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272056	186272056	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:186272056C>T	ENST00000424280.1	-	6	2010	c.1531G>A	c.(1531-1533)Gct>Act	p.A511T	TBCCD1_ENST00000446782.1_Missense_Mutation_p.A415T|TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000338733.5_Missense_Mutation_p.A511T	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	511					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GTCAAATGAGCCTCCTTCACA	0.403000													14	85					0	0	0.000422831	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635662	122635662	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:122635662G>C	ENST00000249284.2	-	1	92	c.27C>G	c.(25-27)ttC>ttG	p.F9L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	9					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATCATGAAGAAGACAGTGA	0.448000													9	20					0	0	0.000274275	0	0
LMTK3	114783	broad.mit.edu	37	19	48994458	48994458	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:48994458G>T	ENST00000600059.1	-	14	4500	c.4273C>A	c.(4273-4275)Cca>Aca	p.P1425T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1454T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGGGCCTGGAGGGGGGAGG	0.731000													4	6					1.23904e-05	8.94317e-05	0.000602214	1	0
ACOT12	134526	broad.mit.edu	37	5	80631635	80631635	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:80631635C>T	ENST00000307624.3	-	12	1242	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGACAAGAGACGATAAGCCAA	0.353000													8	38					0	0	0.000157383	0	0
PRDM1	639	broad.mit.edu	37	6	106553409	106553409	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:106553409C>T	ENST00000369096.4	+	5	1608	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	PRDM1_ENST00000369089.3_Silent_p.H324H|PRDM1_ENST00000369091.2_Silent_p.H422H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	458					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCCTGCCCCACCCCATGCTCA	0.642000			"""D, N, Mis, F, S"""		DLBCL								18	32					0	0	0.000958276	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410783	103410783	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:103410783C>T	ENST00000361246.2	-	30	4141	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1285	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1285K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGAGCAAGCTCGATCTGGTGT	0.602000													6	14					0	0	0.00116845	0	0
ZNF233	353355	broad.mit.edu	37	19	44777398	44777398	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:44777398G>A	ENST00000391958.2	+	5	712	c.585G>A	c.(583-585)caG>caA	p.Q195Q	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAATTATCAGAGTAGGTGTC	0.378000													7	48					0	0	8.12818e-05	0	0
ZNF678	339500	broad.mit.edu	37	1	227843393	227843393	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:227843393G>C	ENST00000343776.5	+	4	1787	c.1442G>C	c.(1441-1443)aGa>aCa	p.R481T	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R536T	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CGTCATAAAAGAATTCATACT	0.353000													10	35					0	0	0.000442599	0	0
USP54	159195	broad.mit.edu	37	10	75289990	75289990	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:75289990C>T	ENST00000339859.4	-	13	1839	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	USP54_ENST00000428547.1_Missense_Mutation_p.R430Q|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R580Q|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R580Q			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	580					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAGAGATTCTCGTTTGGGTCT	0.458000													19	40					0	0	0.00074312	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331326	133331326	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:133331326G>A	ENST00000539605.1	-	1	7073	c.389C>T	c.(388-390)gCg>gTg	p.A130V	ANKLE2_ENST00000357997.5_Missense_Mutation_p.A192V|ANKLE2_ENST00000337516.5_Missense_Mutation_p.A192V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	192						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTCCTTAGACGCAGTCGCTCC	0.567000													18	46					0	0	0.000958276	0	0
NEU4	129807	broad.mit.edu	37	2	242756213	242756213	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:242756213C>T	ENST00000391969.2	+	4	1037	c.326C>T	c.(325-327)aCg>aTg	p.T109M	NEU4_ENST00000405370.1_Missense_Mutation_p.T109M|NEU4_ENST00000325935.6_Missense_Mutation_p.T122M|NEU4_ENST00000404257.1_Missense_Mutation_p.T121M|NEU4_ENST00000407683.1_Missense_Mutation_p.T109M	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	109						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTGGGCCACACGCCTGAGGCC	0.706000													5	16					0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55540458	55540458	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:55540458G>T	ENST00000220676.1	+	4	4164	c.4016G>T	c.(4015-4017)tGc>tTc	p.C1339F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1339					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCAATGTCTGCAATACCATT	0.383000													20	66					9.7654e-05	0.000701377	0.000958276	1	0
AKAP9	10142	broad.mit.edu	37	7	91623999	91623999	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:91623999T>C	ENST00000359028.2	+	7	902	c.677T>C	c.(676-678)tTa>tCa	p.L226S	AKAP9_ENST00000358100.2_Missense_Mutation_p.L226S|AKAP9_ENST00000394564.1_Missense_Mutation_p.L214S|AKAP9_ENST00000356239.3_Missense_Mutation_p.L214S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	226	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGCTAATTTACAACAAGCA	0.313000			T	BRAF	papillary thyroid								9	17					0	0	0.000442599	0	0
CLTC	1213	broad.mit.edu	37	17	57760459	57760459	+	Missense_Mutation	SNP	C	C	G	rs141313166		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:57760459C>G	ENST00000269122.3	+	25	4151	c.3877C>G	c.(3877-3879)Cgt>Ggt	p.R1293G	CLTC_ENST00000393043.1_Missense_Mutation_p.R1293G|CLTC_ENST00000579456.1_Missense_Mutation_p.R230G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1293	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTTCAGGATCGTGGCTATTT	0.373000			T	"""ALK, TFE3"""	"""ALCL, renal """								18	92					0	0	0.00074312	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255494	85255494	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:85255494G>C	ENST00000266682.5	-	12	2651	c.2110C>G	c.(2110-2112)Ctg>Gtg	p.L704V	SLC6A15_ENST00000552192.1_Missense_Mutation_p.L597V|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	704					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCAGTATCCAGAGTTGGGGAT	0.438000													27	96					0	0	0.000878237	0	0
ANKRD55	79722	broad.mit.edu	37	5	55412454	55412454	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:55412454G>A	ENST00000341048.4	-	9	1104	c.953C>T	c.(952-954)tCc>tTc	p.S318F	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S30F|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S275F	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	317										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCTCTCTTGGGAGAGGAGTTT	0.468000													18	80					0	0	0.000375601	0	0
POLR2A	5430	broad.mit.edu	37	17	7417466	7417466	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:7417466C>G	ENST00000322644.6	+	29	6282	c.5883C>G	c.(5881-5883)atC>atG	p.I1961M		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCCGGCTATCAGCCCGGATG	0.647000													11	22					0	0	0.000978159	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478456	106478456	+	RNA	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:106478456C>G	ENST00000390596.2	-	0	110																											TCAGAGGCACCTCCCATATCC	0.592000													5	47					0	0	8.12818e-05	0	0
FSD2	123722	broad.mit.edu	37	15	83455983	83455983	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr15:83455983C>G	ENST00000334574.8	-	2	341	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	FSD2_ENST00000541889.1_Missense_Mutation_p.E54Q			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	54										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCTCTTGACTCATTGGCCATT	0.448000													36	61					0	0	0.00058488	0	0
ARID1A	8289	broad.mit.edu	37	1	27094480	27094480	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:27094480G>T	ENST00000324856.7	+	11	3559	c.3188G>T	c.(3187-3189)gGa>gTa	p.G1063V	ARID1A_ENST00000457599.2_Missense_Mutation_p.G1063V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G680V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1063	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGATTGGTGGATTGACTCAG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	37					2.4624e-09	1.84111e-08	0.00121646	1	0
ZNF432	9668	broad.mit.edu	37	19	52538328	52538328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:52538328C>A	ENST00000594154.1	-	5	816	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.E202*			O94892	ZN432_HUMAN	zinc finger protein 432	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGTTTTTTTCTATTTCATGA	0.378000													29	61					1.2476e-16	9.57368e-16	0.00106085	1	0
ZNF646	9726	broad.mit.edu	37	16	31088969	31088969	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:31088969C>T	ENST00000394979.2	+	1	1747	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P442S			O15015	ZN646_HUMAN	zinc finger protein 646	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCACCAGCTCCCCTGCTGCT	0.602000													4	26					0	0	0.00116845	0	0
DMBX1	127343	broad.mit.edu	37	1	46978117	46978117	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:46978117G>A	ENST00000371956.4	+	4	1115	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	DMBX1_ENST00000360032.3_Missense_Mutation_p.R362Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	367					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTGCGGCTCCGGGCCAAGCAG	0.637000													15	67					0	0	0.00074312	0	0
STC2	8614	broad.mit.edu	37	5	172745097	172745097	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:172745097G>A	ENST00000265087.4	-	4	1971	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	221					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTCGGGGGGCGCCGTGGGAGG	0.647000													9	21					0	0	0.000442599	0	0
TMEM26	219623	broad.mit.edu	37	10	63170335	63170335	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:63170335C>G	ENST00000399298.3	-	6	1220	c.852G>C	c.(850-852)caG>caC	p.Q284H	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	284						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ACACCAGCATCTGATTGATCA	0.512000													7	15					0	0	8.12818e-05	0	0
DCHS2	54798	broad.mit.edu	37	4	155312359	155312359	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:155312359A>G	ENST00000357232.4	-	1	90	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACACCTCATATACACAGGCA	0.323000													4	15					0	0	0.000602214	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994605	144994605	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:144994605C>T	ENST00000369359.4	-	4	576	c.538G>A	c.(538-540)Gac>Aac	p.D180N	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.D180N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.D43N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D109N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D180N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D43N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	43					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTAGATGTCCTCCCGGCTG	0.602000			T	PDGFRB	MPD								5	119					0	0	0.000602214	0	0
NCOA3	8202	broad.mit.edu	37	20	46265061	46265061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr20:46265061C>G	ENST00000372004.3	+	12	2147	c.1931C>G	c.(1930-1932)tCa>tGa	p.S644*	NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S654*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S644*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.S654*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	644	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.S644*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCCTAGATTCAAGTTGTAAA	0.463000													16	130					0	0	0.00074312	0	0
GABRG2	2566	broad.mit.edu	37	5	161580266	161580266	+	Silent	SNP	G	G	C	rs150727562		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:161580266G>C	ENST00000356592.3	+	10	1780	c.1320G>C	c.(1318-1320)ggG>ggC	p.G440G	GABRG2_ENST00000393933.4_Silent_p.G337G|GABRG2_ENST00000414552.2_Silent_p.G480G|GABRG2_ENST00000361925.4_Silent_p.G432G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	432	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGAGACATGGGAGGATACATA	0.483000													24	56					0	0	0.00047179	0	0
LMAN2	10960	broad.mit.edu	37	5	176778190	176778190	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:176778190G>C	ENST00000303127.7	-	2	503	c.299C>G	c.(298-300)tCt>tGt	p.S100C	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.S100C	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	100	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCAGATAGAGCCCTCTTT	0.597000													38	77					0	0	0.00111076	0	0
SFTPA2	729238	broad.mit.edu	37	10	81317242	81317242	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:81317242C>G	ENST00000372325.2	-	6	554	c.470G>C	c.(469-471)aGa>aCa	p.R157T	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R157T	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	157	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCCGCCTGCTCTGGCACATGC	0.522000									Pulmonary Fibrosis, Idiopathic				32	80					0	0	0.000437636	0	0
PTPRS	5802	broad.mit.edu	37	19	5244206	5244206	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:5244206G>A	ENST00000372412.4	-	11	1512	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P413S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P413S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P426S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P413S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P413S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P426S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P422S|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	426	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGCTGGCCGGGGCCTGCTCG	0.706000													30	72					0	0	0.000409698	0	0
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:248262935C>T	ENST00000366478.2	+	3	595	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000358120.2_Silent_p.S86S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542000													22	105					0	0	0.000295444	0	0
MITF	4286	broad.mit.edu	37	3	69915468	69915468	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:69915468C>T	ENST00000314589.5	+	1	39	c.27C>T	c.(25-27)ttC>ttT	p.F9F	MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	0					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCAGATGTTCATGCCATGCT	0.428000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						20	54					0	0	0.000295444	0	0
BRWD1	54014	broad.mit.edu	37	21	40665770	40665770	+	Silent	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr21:40665770G>C	ENST00000342449.3	-	8	876	c.798C>G	c.(796-798)ctC>ctG	p.L266L	BRWD1_ENST00000380800.3_Silent_p.L266L|BRWD1_ENST00000333229.2_Silent_p.L266L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGTGTCCTTGGAGCACAGCAA	0.388000													9	34					0	0	0.000274275	0	0
SCYL2	55681	broad.mit.edu	37	12	100707302	100707302	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:100707302G>A	ENST00000360820.2	+	7	1392	c.955G>A	c.(955-957)Gat>Aat	p.D319N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	319	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACCAGATGCAGATCAAATGAC	0.348000													24	24					0	0	0.000720815	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386063	65386063	+	Silent	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:65386063G>C	ENST00000355703.3	+	6	1769	c.1230G>C	c.(1228-1230)cgG>cgC	p.R410R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	410						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCCTCGACGGCCCCTGCTTG	0.647000													5	14					0	0	8.12818e-05	0	0
ADAM23	8745	broad.mit.edu	37	2	207459493	207459493	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr2:207459493A>T	ENST00000264377.3	+	23	2439	c.2111A>T	c.(2110-2112)gAt>gTt	p.D704V	ADAM23_ENST00000374415.3_Missense_Mutation_p.D704V|ADAM23_ENST00000374416.1_Missense_Mutation_p.D704V	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	704					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GATGATACGGATGTGGGCTAT	0.423000													11	41					0	0	0.000219431	0	0
PTPRC	5788	broad.mit.edu	37	1	198721477	198721477	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:198721477G>A	ENST00000367376.2	+	30	3472	c.3301G>A	c.(3301-3303)Gtc>Atc	p.V1101I	PTPRC_ENST00000442510.2_Missense_Mutation_p.V1103I|PTPRC_ENST00000352140.3_Missense_Mutation_p.V1053I|PTPRC_ENST00000594404.1_Missense_Mutation_p.V940I|PTPRC_ENST00000348564.6_Missense_Mutation_p.V942I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1101	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TACCCTTCGTGTCTTTGAACT	0.368000													12	57					0	0	0.000151284	0	0
ATR	545	broad.mit.edu	37	3	142215271	142215271	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:142215271G>A	ENST00000350721.4	-	34	5951	c.5830C>T	c.(5830-5832)Ctc>Ttc	p.L1944F	ATR_ENST00000383101.3_Missense_Mutation_p.L1880F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1944	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L1944F(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCATTAAGGAGAGCATTGTAG	0.483000								Other conserved DNA damage response genes					10	39					0	0	0.000673444	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100002641	100002641	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:100002641T>C	ENST00000398027.2	-	13	1493	c.1246A>G	c.(1246-1248)Att>Gtt	p.I416V	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I296V|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I417V|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I296V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	416							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCACCTGAATGCTGATCTGT	0.502000													25	76					0	0	0.00106085	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90160848	90160848	+	RNA	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:90160848C>T	ENST00000567960.1	+	0	156				TUBB8P7_ENST00000564451.1_RNA																							TGCACCACCGCGAGGCCAGCG	0.697000													8	24					0	0	0.000157383	0	0
KRT71	112802	broad.mit.edu	37	12	52940081	52940081	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:52940081G>A	ENST00000267119.5	-	7	1383	c.1314C>T	c.(1312-1314)agC>agT	p.S438S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	438	Coil 2.|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)		TGCACTCCTCGCTCTCCAGTA	0.612000													15	45					0	0	0.000566183	0	0
EPHA5	2044	broad.mit.edu	37	4	66230734	66230734	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:66230734C>T	ENST00000273854.3	-	12	2837		c.e12+1		EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						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						ATCATACTTACTTTTGGTCAC	0.338000										TSP Lung(17;0.13)			10	67					0	0	0.000978159	0	0
KALRN	8997	broad.mit.edu	37	3	124165105	124165105	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:124165105C>T	ENST00000360013.3	+	20	3532	c.3405C>T	c.(3403-3405)ttC>ttT	p.F1135F	KALRN_ENST00000460856.1_Silent_p.F1126F|KALRN_ENST00000240874.3_Silent_p.F1135F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1135					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTGGTGTTCGAGCGCAGCG	0.552000													9	19					0	0	0.000673444	0	0
HLA-B	3106	broad.mit.edu	37	6	31323154	31323154	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:31323154G>T	ENST00000412585.2	-	4	863	c.835C>A	c.(835-837)Cag>Aag	p.Q279K		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTGTATCTCTGCTCTTCTCCA	0.562000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				12	65					1.08611e-07	7.91773e-07	0.000978159	1	0
ARID1A	8289	broad.mit.edu	37	1	27087464	27087464	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:27087464C>A	ENST00000324856.7	+	5	2409	c.2038C>A	c.(2038-2040)Cct>Act	p.P680T	ARID1A_ENST00000457599.2_Missense_Mutation_p.P680T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P297T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	680					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTCAGTCTCCTTTCTCTCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	49					9.16793e-09	6.7852e-08	0.000566183	1	0
ZDHHC16	84287	broad.mit.edu	37	10	99212255	99212255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr10:99212255C>A	ENST00000393760.1	+	5	871	c.522C>A	c.(520-522)tgC>tgA	p.C174*	ZDHHC16_ENST00000370842.2_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370854.3_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000345745.5_Nonsense_Mutation_p.C109*|ZDHHC16_ENST00000370846.4_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000353979.3_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000352634.4_Nonsense_Mutation_p.C174*	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	174					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCAGCATCTGCAACAGGTGGG	0.532000													9	22					5.68852e-11	4.31972e-10	0.000274275	1	0
MS4A13	503497	broad.mit.edu	37	11	60296857	60296857	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:60296857C>T	ENST00000378186.2	+	6	649	c.326C>T	c.(325-327)tCa>tTa	p.S109L	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Missense_Mutation_p.S69L|MS4A13_ENST00000437058.2_Missense_Mutation_p.S50L	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	109						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						AGGGAAGTATCACGTATTTTA	0.378000													7	55					0	0	0.000157383	0	0
SSPO	23145	broad.mit.edu	37	7	149497502	149497502	+	RNA	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:149497502C>T	ENST00000378016.2	+	0	7260							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGACGGCTCCGACGAGAGGC	0.632000													4	5					0	0	0.000602214	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696225	48696225	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:48696225C>T	ENST00000352832.5	+	31	5907	c.5535C>T	c.(5533-5535)agC>agT	p.S1845S	CACNA1G_ENST00000515765.1_Silent_p.S1868S|CACNA1G_ENST00000507896.1_Silent_p.S1868S|CACNA1G_ENST00000514079.1_Silent_p.S1886S|CACNA1G_ENST00000507510.2_Silent_p.S1879S|CACNA1G_ENST00000502264.1_Silent_p.S1856S|CACNA1G_ENST00000507609.1_Silent_p.S1872S|CACNA1G_ENST00000513964.1_Silent_p.S1834S|CACNA1G_ENST00000510115.1_Silent_p.S1845S|CACNA1G_ENST00000512389.1_Silent_p.S1868S|CACNA1G_ENST00000358244.5_Silent_p.S1845S|CACNA1G_ENST00000515165.1_Silent_p.S1879S|CACNA1G_ENST00000510366.1_Silent_p.S1827S|CACNA1G_ENST00000442258.2_Silent_p.S1838S|CACNA1G_ENST00000515411.1_Silent_p.S1861S|CACNA1G_ENST00000514717.1_Silent_p.S1822S|CACNA1G_ENST00000354983.4_Silent_p.S1845S|CACNA1G_ENST00000360761.4_Silent_p.S1856S|CACNA1G_ENST00000359106.5_Silent_p.S1879S|CACNA1G_ENST00000505165.1_Silent_p.S1879S|CACNA1G_ENST00000513689.2_Silent_p.S1834S|CACNA1G_ENST00000507336.1_Silent_p.S1868S|CACNA1G_ENST00000429973.2_Silent_p.S1861S|CACNA1G_ENST00000503485.1_Silent_p.S1845S|CACNA1G_ENST00000514181.1_Silent_p.S1854S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1879					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGACCCTCAGCCCCCAGCCCC	0.682000													5	24					0	0	0.000602214	0	0
ZNF135	7694	broad.mit.edu	37	19	58572991	58572991	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:58572991A>G	ENST00000401053.4	+	2	116	c.113A>G	c.(112-114)gAg>gGg	p.E38G	ZNF135_ENST00000511556.1_Missense_Mutation_p.E26G|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000439855.2_Missense_Mutation_p.E26G|ZNF135_ENST00000359978.6_Missense_Mutation_p.E38G|ZNF135_ENST00000313434.5_Missense_Mutation_p.E26G	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TTCAGCCAGGAGGAGTGGGGG	0.592000													22	97					0	0	0.000295444	0	0
VPS8	23355	broad.mit.edu	37	3	184573593	184573593	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:184573593T>C	ENST00000287546.4	+	13	1301	c.1130T>C	c.(1129-1131)gTt>gCt	p.V377A	VPS8_ENST00000446204.2_Missense_Mutation_p.V375A|VPS8_ENST00000437079.3_Missense_Mutation_p.V377A|VPS8_ENST00000436792.2_Missense_Mutation_p.V375A	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	377							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GGAGATGTTGTTCATTTTCTA	0.383000													24	95					0	0	0.000375601	0	0
EXOC7	23265	broad.mit.edu	37	17	74080103	74080103	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:74080103C>T	ENST00000607838.1	-	19	2099	c.2005G>A	c.(2005-2007)Ggg>Agg	p.G669R	EXOC7_ENST00000589210.1_Missense_Mutation_p.G646R|EXOC7_ENST00000467929.2_Missense_Mutation_p.G618R|EXOC7_ENST00000411744.2_Missense_Mutation_p.G638R|EXOC7_ENST00000405575.4_Missense_Mutation_p.G655R|EXOC7_ENST00000335146.7_Missense_Mutation_p.G697R|EXOC7_ENST00000332065.5_Missense_Mutation_p.G615R	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	697					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAAAGGCCCCGTAGGTCTCC	0.572000													6	20					0	0	0.00116845	0	0
ACTL8	81569	broad.mit.edu	37	1	18149668	18149668	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:18149668C>T	ENST00000375406.1	+	2	381	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	55						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCTGGGCATCGACATTTGCC	0.577000													20	58					0	0	0.00152264	0	0
IL1RAP	3556	broad.mit.edu	37	3	190321956	190321956	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:190321956T>G	ENST00000412504.2	+	3	356	c.104T>G	c.(103-105)aTc>aGc	p.I35S	IL1RAP_ENST00000072516.3_Missense_Mutation_p.I35S|IL1RAP_ENST00000317757.3_Missense_Mutation_p.I35S|IL1RAP_ENST00000439062.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000447382.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.I35S|IL1RAP_ENST00000422940.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000422485.1_Missense_Mutation_p.I35S			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	35	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGAGGCAAATCCAAGTGTTT	0.453000													8	39					0	0	0.000274275	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887176	62887176	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:62887176C>T	ENST00000281156.4	-	2	411	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCTTTTCTTCGTCTTCCTTT	0.328000													4	11					0	0	0.00024832	0	0
AMZ2	51321	broad.mit.edu	37	17	66252988	66252988	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:66252988G>A	ENST00000359904.3	+	7	2093	c.961G>A	c.(961-963)Gac>Aac	p.D321N	AMZ2_ENST00000392720.2_Missense_Mutation_p.D321N|AMZ2_ENST00000577985.1_Missense_Mutation_p.D321N|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.D321N|AMZ2_ENST00000577866.1_Missense_Mutation_p.D321N|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Missense_Mutation_p.D263N	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	321							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGAATCTTCTGACACACCTGG	0.443000													7	54					0	0	8.12818e-05	0	0
OR4M1	441670	broad.mit.edu	37	14	20249081	20249081	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr14:20249081C>T	ENST00000315957.4	+	1	681	c.600C>T	c.(598-600)atC>atT	p.I200I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTGATGATCTGTAGTAGTG	0.478000													83	275					0	0	0.000781405	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902079	61902079	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:61902079C>G	ENST00000427159.2	-	10	1480	c.835G>C	c.(835-837)Gag>Cag	p.E279Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	279					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGTGCCAACTCTTCATCATCT	0.552000													24	125					0	0	0.000586117	0	0
NAPSA	9476	broad.mit.edu	37	19	50863119	50863119	+	Splice_Site	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:50863119C>A	ENST00000253719.2	-	6	877	c.669G>T	c.(667-669)agG>agT	p.R223S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	223					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTTCAGGGTCCCTGCAGGGGC	0.612000													8	63					0.000157383	0.00112483	0.000157383	1	0
NUP98	4928	broad.mit.edu	37	11	3726529	3726529	+	Missense_Mutation	SNP	G	G	C	rs144100440		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:3726529G>C	ENST00000324932.7	-	22	3403	c.2983C>G	c.(2983-2985)Cgc>Ggc	p.R995G	NUP98_ENST00000359171.4_Missense_Mutation_p.R995G|NUP98_ENST00000355260.3_Missense_Mutation_p.R995G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1012					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGACTGAAGCGTTGATCCAGT	0.433000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								19	23					0	0	0.00121646	0	0
HTT	3064	broad.mit.edu	37	4	3237303	3237303	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr4:3237303G>A	ENST00000355072.5	+	63	8728	c.8583G>A	c.(8581-8583)gtG>gtA	p.V2861V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2861					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTGTGGGGTGATGCTGTCTG	0.587000													6	22					0	0	0.00116845	0	0
NOD2	64127	broad.mit.edu	37	16	50756557	50756557	+	Silent	SNP	C	C	T	rs104895451		TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:50756557C>T	ENST00000300589.2	+	8	2844	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	913					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTGGGTGACGAGGGGGCCC	0.517000													65	257					0	0	0.000781405	0	0
P2RY1	5028	broad.mit.edu	37	3	152553928	152553928	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:152553928C>T	ENST00000305097.3	+	1	1193	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	119					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACTGGATCTTCGGGGATGCCA	0.488000													19	41					0	0	0.00152264	0	0
PLEC	5339	broad.mit.edu	37	8	144992844	144992844	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr8:144992844C>T	ENST00000322810.4	-	32	11725	c.11556G>A	c.(11554-11556)ctG>ctA	p.L3852L	PLEC_ENST00000354958.2_Silent_p.L3693L|PLEC_ENST00000436759.2_Silent_p.L3742L|PLEC_ENST00000398774.2_Silent_p.L3683L|PLEC_ENST00000345136.3_Silent_p.L3715L|PLEC_ENST00000357649.2_Silent_p.L3719L|PLEC_ENST00000527096.1_Silent_p.L3738L|PLEC_ENST00000354589.3_Silent_p.L3715L|PLEC_ENST00000356346.3_Silent_p.L3701L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3852	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						CCTCGGCACTCAGCAGCCCTT	0.652000													11	138					0	0	0.000978159	0	0
KCNN3	3782	broad.mit.edu	37	1	154841877	154841877	+	Silent	SNP	G	G	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:154841877G>T	ENST00000271915.4	-	1	879	c.564C>A	c.(562-564)ctC>ctA	p.L188L		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGAGGCGGCTGAGGGGCTTCA	0.652000													18	75					9.16793e-09	6.7852e-08	0.000566183	1	0
FNBP4	23360	broad.mit.edu	37	11	47746078	47746078	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:47746078C>T	ENST00000263773.5	-	13	2273	c.2261G>A	c.(2260-2262)gGa>gAa	p.G754E		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	754										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTCCTCTGTTCCTGGGGCAGG	0.532000													36	133					0	0	0.000814825	0	0
CEP192	55125	broad.mit.edu	37	18	13114182	13114182	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr18:13114182C>T	ENST00000506447.1	+	42	7301	c.7221C>T	c.(7219-7221)ctC>ctT	p.L2407L	CEP192_ENST00000430049.2_Silent_p.L1932L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.L1811L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	2002										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGGATTCCCTCATTAAAATAG	0.393000													43	102					0	0	0.000509022	0	0
CPT1B	1375	broad.mit.edu	37	22	51012112	51012112	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr22:51012112C>T	ENST00000360719.2	-	10	1140	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.V335M|CPT1B_ENST00000395650.2_Missense_Mutation_p.V335M|CPT1B_ENST00000312108.7_Missense_Mutation_p.V335M|CPT1B_ENST00000440709.1_Missense_Mutation_p.V335M|CPT1B_ENST00000434492.2_Missense_Mutation_p.V132M|CPT1B_ENST00000457250.1_Missense_Mutation_p.V301M	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	335					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TAGACAGCCACGTGCCGGCTG	0.617000													8	19					0	0	0.000157383	0	0
ZNF454	285676	broad.mit.edu	37	5	178392140	178392140	+	Silent	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:178392140A>G	ENST00000320129.3	+	5	1038	c.735A>G	c.(733-735)gaA>gaG	p.E245E	ZNF454_ENST00000519564.1_Silent_p.E245E	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AACCCTATGAATGTAAGGAAT	0.428000													14	48					0	0	0.000219431	0	0
SYMPK	8189	broad.mit.edu	37	19	46324658	46324658	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:46324658C>G	ENST00000245934.7	-	22	3121	c.2877G>C	c.(2875-2877)atG>atC	p.M959I	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	959					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGGATTTCATGTCGCACT	0.607000													3	31					0	0	6.4e-05	0	0
SCN3B	55800	broad.mit.edu	37	11	123513204	123513204	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr11:123513204C>A	ENST00000392770.2	-	3	1197	c.395G>T	c.(394-396)cGg>cTg	p.R132L	SCN3B_ENST00000530277.1_Missense_Mutation_p.R132L|SCN3B_ENST00000299333.3_Missense_Mutation_p.R132L	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	132	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CACAAAGGGCCGATGCGCCTC	0.597000													18	27					6.94344e-10	5.24536e-09	0.00074312	1	0
SUPT6H	6830	broad.mit.edu	37	17	27001424	27001424	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr17:27001424C>T	ENST00000314616.6	+	3	516	c.233C>T	c.(232-234)tCa>tTa	p.S78L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S78L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	78	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTGGTGATTCAGAAGATGAT	0.493000													6	13					0	0	0.00116845	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	79					0	0	0.00116845	0	0
PHF3	23469	broad.mit.edu	37	6	64412521	64412521	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:64412521G>C	ENST00000262043.3	+	10	3563	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E1075Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1075					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGCCATGGAGATTCAGGT	0.368000													18	46					0	0	0.000566183	0	0
LCA5L	150082	broad.mit.edu	37	21	40800279	40800279	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr21:40800279C>G	ENST00000358268.2	-	4	669	c.141G>C	c.(139-141)aaG>aaC	p.K47N	LCA5L_ENST00000485895.2_Missense_Mutation_p.K47N|LCA5L_ENST00000288350.3_Missense_Mutation_p.K47N|LCA5L_ENST00000380671.2_Missense_Mutation_p.K47N			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	47										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AATCAACACTCTTATTGGAAG	0.413000													16	70					0	0	0.000566183	0	0
SETX	23064	broad.mit.edu	37	9	135202958	135202958	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr9:135202958G>A	ENST00000372169.2	-	10	4209	c.4027C>T	c.(4027-4029)Ctg>Ttg	p.L1343L	SETX_ENST00000224140.5_Silent_p.L1343L|SETX_ENST00000393220.1_Silent_p.L1343L			Q7Z333	SETX_HUMAN	senataxin	1343					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACTAGTCAGAAGTTTCTTA	0.358000													12	41					0	0	0.000219431	0	0
FAM120B	84498	broad.mit.edu	37	6	170632213	170632213	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:170632213A>G	ENST00000476287.1	+	3	1889	c.1781A>G	c.(1780-1782)aAc>aGc	p.N594S	FAM120B_ENST00000540480.1_Missense_Mutation_p.N606S|FAM120B_ENST00000537664.1_Missense_Mutation_p.N617S|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	594					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CTGGTGTACAACATCATGAGC	0.443000													23	21					0	0	0.00047179	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555574	179555574	+	Silent	SNP	G	G	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:179555574G>A	ENST00000393371.2	-	4	771	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.L159L|RASGEF1C_ENST00000522500.1_Silent_p.L8L			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	159	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGGTGCAGAGCCTGTAGG	0.597000													11	16					0	0	0.000978159	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859845	6859845	+	Silent	SNP	C	C	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr18:6859845C>T	ENST00000419673.2	+	4	415	c.198C>T	c.(196-198)gaC>gaT	p.D66D	ARHGAP28_ENST00000418986.1_Silent_p.D66D|ARHGAP28_ENST00000314319.3_Silent_p.D66D|ARHGAP28_ENST00000262227.3_Silent_p.D173D|ARHGAP28_ENST00000531294.1_Silent_p.D61D|ARHGAP28_ENST00000532996.1_Silent_p.D48D|ARHGAP28_ENST00000383472.4_Silent_p.D225D|ARHGAP28_ENST00000400091.2_Silent_p.D225D	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	48					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCCTGTCTGACGCATCCCAGG	0.423000													50	116					0	0	0.000781405	0	0
CIT	11113	broad.mit.edu	37	12	120142238	120142238	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr12:120142238C>G	ENST00000392521.2	-	41	5289	c.5234G>C	c.(5233-5235)tGt>tCt	p.C1745S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.C1703S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1703	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATGGCTGCACAGATGCAGAG	0.493000													11	31					0	0	0.000673444	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362733	55362733	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr18:55362733C>G	ENST00000536015.1	-	9	849	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	ATP8B1_ENST00000283684.4_Missense_Mutation_p.E244Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	244					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCTGTGATTTCAAGTGACATC	0.313000													15	27					0	0	0.000422831	0	0
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	46	---	---	---	---					
PPCS	79717	broad.mit.edu	37	1	42923004	42923014	+	Frame_Shift_Del	DEL	TCTGGGGGCCC	TCTGGGGGCCC	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:42923004_42923014delTCTGGGGGCCC	ENST00000372561.3	+	2	602_612	c.595_605delTCTGGGGGCCC	c.(595-606)tctgggggcccafs	p.SGGP199fs	PPCS_ENST00000372562.1_Frame_Shift_Del_p.SGGP26fs|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_Frame_Shift_Del_p.HLGAH50fs|PPCS_ENST00000455780.1_Frame_Shift_Del_p.SGGP26fs|PPCS_ENST00000372560.3_Frame_Shift_Del_p.SGGP199fs	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	199					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.G200G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATCCAGTCATCTGGGGGCCCACTGCAGGTG	0.483													29	141	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				2	4	---	---	---	---					
CNOT10	25904	broad.mit.edu	37	3	32806176	32806183	+	Frame_Shift_Del	DEL	GGTAAGCG	GGTAAGCG	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr3:32806176_32806183delGGTAAGCG	ENST00000328834.5	+	17	2195_2202	c.1879_1886delGGTAAGCG	c.(1879-1887)ggtaagcggfs	p.GKR627fs	CNOT10_ENST00000454516.2_Frame_Shift_Del_p.GKR687fs|CNOT10_ENST00000331889.6_Frame_Shift_Del_p.GKR600fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	627					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	p.R629L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTCCCCAGCTGGTAAGCGGGCCCCTCAG	0.553													17	132	---	---	---	---					
RXFP3	51289	broad.mit.edu	37	5	33937637	33937637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr5:33937637delG	ENST00000330120.3	+	1	1147	c.792delG	c.(790-792)ctgfs	p.L264fs		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	264						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						AGTTCTGGCTGGGCCTCTACC	0.627													5	8	---	---	---	---					
ANKS1A	23294	broad.mit.edu	37	6	34985261	34985269	+	In_Frame_Del	DEL	AGCAGCAGC	AGCAGCAGC	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:34985261_34985269delAGCAGCAGC	ENST00000360359.3	+	11	1573_1581	c.1435_1443delAGCAGCAGC	c.(1435-1443)agcagcagcdel	p.SSS479del	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	479						cytoplasm	protein binding	p.S479R(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCACAGGCGGAGCAGCAGCAGCCGGAGCC	0.584													12	42	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr6:36651987_36651988insT	ENST00000405375.1	+	2	344_345	c.109_110insT	c.(109-111)ctafs	p.L37fs	CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	37					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CTGTGATGCGCTAATGGCGGGC	0.663													14	22	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44054564	44054565	+	RNA	DEL	CA	CA	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr7:44054564_44054565delCA	ENST00000427076.1	-	0	179				POLR2J4_ENST00000326391.6_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2																						CTACCCCCGCCACACACACACA	0.515													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48947595	48947596	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr13:48947595_48947596insA	ENST00000267163.4	+	12	1320_1321	c.1182_1183insA	c.(1183-1185)caafs	p.Q395fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.Q395*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCAAGTGATCAACCTTCAGA	0.292		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	40	---	---	---	---					
SCARNA6	677772	broad.mit.edu	37	16	21598984	21598985	+	RNA	INS	-	-	T			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:21598984_21598985insT	ENST00000516989.1	+	0	37_38																											ccagcagcCCATTTTTTTTTTC	0.366													2	4	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													7	79	---	---	---	---					
STRN4	29888	broad.mit.edu	37	19	47241474	47241478	+	Frame_Shift_Del	DEL	TTCAG	TTCAG	-			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chr19:47241474_47241478delTTCAG	ENST00000391910.3	-	3	853_857	c.403_407delCTGAA	c.(403-408)ctgaagfs	p.LK135fs	STRN4_ENST00000539396.1_Frame_Shift_Del_p.LK16fs|STRN4_ENST00000263280.6_Frame_Shift_Del_p.LK135fs			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	135						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGTCCCAAACTTCAGTTTATGATAT	0.483													16	71	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72434236	72434237	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41Q-01A-11D-A339-08	TCGA-KQ-A41Q-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f809713-ee0b-4388-9628-e2a8c9083c59	9592afe8-2813-45b3-8486-c996d99561b1	g.chrX:72434236_72434237insA	ENST00000373517.3	-	1	447_448	c.92_93insT	c.(91-93)ctgfs	p.L31fs	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	31					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CACCGCGCTCCAGATGTTCCCC	0.550													10	32	---	---	---	---					
