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
KCNMB2	10242	broad.mit.edu	37	3	178560595	178560595	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:178560595C>G	ENST00000432997.1	+	5	930	c.578C>G	c.(577-579)tCc>tGc	p.S193C	RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.S193C|KCNMB2_ENST00000358316.3_Missense_Mutation_p.S193C|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.S193C	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	193					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CTCTACAGTTCCAACGTGCTG	0.448000													21	21					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649377	62649377	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:62649377G>T	ENST00000377892.1	+	6	1057	c.833G>T	c.(832-834)cGt>cTt	p.R278L	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R185L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R247L|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R146L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R216L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R248L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	247					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTGAAGGGGCGTCTCGATTAC	0.582000													7	49					5.18039e-06	5.54668e-06	1	1	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													3	15					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121259915	121259915	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr8:121259915C>T	ENST00000297848.3	+	21	2813	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T753M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T848M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	848	Fibronectin type-III 7.				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)			TTGCGCATTACGTGGGACCCC	0.468000													31	27					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													3	45					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560459	95560459	+	Silent	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr14:95560459C>A	ENST00000526495.1	-	26	5421	c.5130G>T	c.(5128-5130)gcG>gcT	p.A1710A	DICER1_ENST00000556045.1_Silent_p.A608A|DICER1_ENST00000343455.3_Silent_p.A1710A|DICER1_ENST00000527414.1_Silent_p.A1710A|DICER1_ENST00000393063.1_Silent_p.A1710A|DICER1_ENST00000541352.1_Silent_p.A1710A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1710	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGTCCAAAATCGCATCTCCCA	0.532000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	72					0.000602214	0.000625831	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								4	152					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605022	140605022	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr5:140605022G>A	ENST00000239449.4	+	1	1945	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E496K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E649K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCTCG	0.726000													5	15					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41277541	41277541	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:41277541C>G	ENST00000361937.3	-	32	4340	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	INO80_ENST00000401393.3_Missense_Mutation_p.E1306Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1306	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AATACCTTCTCTGCATACTTT	0.502000													30	35					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61539084	61539084	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:61539084C>A	ENST00000278836.5	+	6	949	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.L276M	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGTGACAGCCCTGCCTCTGCA	0.642000													9	121					4.36969e-10	5.14652e-10	1	1	0
ADAP2	55803	broad.mit.edu	37	17	29250086	29250086	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr17:29250086G>C	ENST00000330889.3	+	2	558	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	ADAP2_ENST00000580525.1_Missense_Mutation_p.E75Q	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	75	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAGTATTGTGGAGGTAGAAAG	0.557000													60	58					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17633031	17633031	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr6:17633031G>A	ENST00000262077.2	-	17	2508	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L	NUP153_ENST00000537253.1_Silent_p.L868L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	837					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCAGAAGGCAGAGAGACAGGT	0.433000													32	43					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105527552	105527552	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:105527552G>A	ENST00000332180.5	+	14	1291	c.1204G>A	c.(1204-1206)Gta>Ata	p.V402I		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	402					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGTTAGAGATGTACAGTCTTA	0.353000													38	48					0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244928	45244928	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr22:45244928C>G	ENST00000352766.7	+	15	1495	c.1495C>G	c.(1495-1497)Ctc>Gtc	p.L499V	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.L289V|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.L411V|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.L289V|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.L420V|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.L499V|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.L320V																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CGAGCAGATTCTCGGGATCAC	0.642000													74	79					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	50					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89499486	89499486	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:89499486G>A	ENST00000336596.2	+	15	2881	c.2656G>A	c.(2656-2658)Ggc>Agc	p.G886S	EPHA3_ENST00000494014.1_Missense_Mutation_p.G886S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	886						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCGGAATCCCGGCAGCCTGAA	0.453000										TSP Lung(6;0.00050)			30	37					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660830	100660830	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:100660830G>T	ENST00000416321.1	-	1	27	c.25C>A	c.(25-27)Cgc>Agc	p.R9S		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	9					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ATAAGCTCGCGCGCTGGCTCC	0.642000													14	53					2.48551e-13	2.9939e-13	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156504506	156504506	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:156504506T>C	ENST00000361170.2	-	29	3537	c.3527A>G	c.(3526-3528)tAc>tGc	p.Y1176C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1176	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGCGGTAGTACAGGAGGTT	0.642000													3	6					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916037	33916037	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:33916037G>T	ENST00000389232.4	+	20	2457	c.2387G>T	c.(2386-2388)gGa>gTa	p.G796V	RYR3_ENST00000415757.3_Missense_Mutation_p.G796V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	796	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACGTCATGGAGAGTTTAAG	0.403000													5	46					1.024e-07	1.13067e-07	1	1	0
RYR3	6263	broad.mit.edu	37	15	33916036	33916036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:33916036G>T	ENST00000389232.4	+	20	2456	c.2386G>T	c.(2386-2388)Gga>Tga	p.G796*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.G796*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	796	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACGTCATGGAGAGTTTAA	0.403000													4	45					2.56e-06	2.76898e-06	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426709	47426709	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr14:47426709G>A	ENST00000426342.1	-	9	1809	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	MDGA2_ENST00000357362.3_Missense_Mutation_p.R355W|MDGA2_ENST00000399232.2_Missense_Mutation_p.R584W|MDGA2_ENST00000439988.3_Missense_Mutation_p.R653W	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	584	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACCCGTCCGTAATAATTTA	0.443000													27	52					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630259	203630259	+	Silent	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:203630259C>A	ENST00000303116.6	+	8	1552	c.810C>A	c.(808-810)ctC>ctA	p.L270L	FAM117B_ENST00000392238.2_Silent_p.L514L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	514										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTTTCTGCCTCGTCAGCATCC	0.493000													58	72					1.61742e-36	2.01701e-36	1	1	0
MUC16	94025	broad.mit.edu	37	19	9075647	9075647	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:9075647G>A	ENST00000397910.4	-	3	12002	c.11799C>T	c.(11797-11799)gcC>gcT	p.A3933A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3934	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCAGAAGGGGCAATTCTCT	0.483000													16	9					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													4	223					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842975	7842975	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:7842975G>A	ENST00000329913.3	-	2	641	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	198					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473000													22	51					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77268538	77268538	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chrX:77268538A>G	ENST00000341514.6	+	10	2490	c.2335A>G	c.(2335-2337)Act>Gct	p.T779A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	779					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAACCCTATTACTTTCTTTGA	0.408000													78	3					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596351	97596351	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:97596351C>T	ENST00000182096.4	+	1	533	c.469C>T	c.(469-471)Cct>Tct	p.P157S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAGGTTTCACCTGGTCACCA	0.428000													39	38					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415126	105415126	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr14:105415126A>T	ENST00000333244.5	-	7	6781	c.6662T>A	c.(6661-6663)cTc>cAc	p.L2221H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2221						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTCCAGGAGTTTCACGTC	0.632000													46	56					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736090	158736090	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:158736090C>T	ENST00000335094.2	-	1	402	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTGGAGGGGCCGGCAGATGGC	0.527000													10	10					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2683370	2683370	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr6:2683370C>T	ENST00000274643.7	-	7	914	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MYLK4_ENST00000268446.5_Missense_Mutation_p.R191H	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	191	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATCGATGATGCGGTCAAACAG	0.483000													3	25					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195587	131195587	+	Splice_Site	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr7:131195587G>T	ENST00000541194.1	-	2	969	c.712C>A	c.(712-714)Cta>Ata	p.L238I	PODXL_ENST00000322985.9_Splice_Site_p.P236T|PODXL_ENST00000378555.3_Splice_Site_p.L236I|PODXL_ENST00000537928.1_Splice_Site_p.P236T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	236	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTACTTACGTAGGGTGGTG	0.498000													3	41					0.00024832	0.000260613	1	1	0
XIRP2	129446	broad.mit.edu	37	2	167992560	167992560	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:167992560C>T	ENST00000409195.1	+	3	639	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	XIRP2_ENST00000409043.1_Missense_Mutation_p.R184C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R184C|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409756.2_Missense_Mutation_p.R184C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R184C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R184C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	9					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGTCACAGCCGCATCTTTGA	0.398000													26	34					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54122193	54122193	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:54122193C>T	ENST00000404125.1	-	34	3918	c.3863G>A	c.(3862-3864)gGt>gAt	p.G1288D	PSME4_ENST00000421748.2_Missense_Mutation_p.G432D	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTCTTCCACACCAGCATAAAC	0.398000													45	48					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221085	44221085	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr6:44221085C>G	ENST00000371554.1	+	11	2249	c.2035C>G	c.(2035-2037)Cgc>Ggc	p.R679G	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R679G|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R679G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	679					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACTCCAACCGCATCTATCG	0.483000													159	209					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849287	94849287	+	Silent	SNP	A	A	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr14:94849287A>C	ENST00000448921.1	-	4	860	c.288T>G	c.(286-288)acT>acG	p.T96T	SERPINA1_ENST00000355814.4_Silent_p.T96T|SERPINA1_ENST00000440909.1_Silent_p.T96T|SERPINA1_ENST00000437397.1_Silent_p.T96T|SERPINA1_ENST00000404814.4_Silent_p.T96T|SERPINA1_ENST00000393087.4_Silent_p.T96T|SERPINA1_ENST00000449399.3_Silent_p.T96T|SERPINA1_ENST00000393088.4_Silent_p.T96T|SERPINA1_ENST00000402629.1_Silent_p.T96T	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	96				T -> A (in Ref. 7; ABG73380).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTTCATCGTGAGTGTCAGCCT	0.557000													32	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420214	49420214	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:49420214G>A	ENST00000301067.7	-	48	15534	c.15535C>T	c.(15535-15537)Cgt>Tgt	p.R5179C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCCCCACACGGAACATGTGC	0.592000													13	10					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89614466	89614466	+	Silent	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr16:89614466A>G	ENST00000268704.2	+	12	1623	c.1608A>G	c.(1606-1608)ggA>ggG	p.G536G		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	536					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGCGGGAGGGACACACTTCCG	0.637000													57	73					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10555750	10555750	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr17:10555750G>C	ENST00000583535.1	-	4	422	c.335C>G	c.(334-336)tCt>tGt	p.S112C	MYH3_ENST00000226209.7_Missense_Mutation_p.S112C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	112	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GATCATCCAAGATGTGTAACG	0.577000													31	31					0	0	1	0	0
BANF1	8815	broad.mit.edu	37	11	65771121	65771121	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:65771121C>G	ENST00000312175.2	+	3	656	c.148C>G	c.(148-150)Ctg>Gtg	p.L50V	BANF1_ENST00000445560.2_Missense_Mutation_p.L50V|BANF1_ENST00000524628.1_3'UTR|BANF1_ENST00000533166.1_Missense_Mutation_p.L50V|BANF1_ENST00000527348.1_Missense_Mutation_p.L50V	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	50					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						TGGCCAGTTTCTGGTGCTAAA	0.532000													35	38					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66308670	66308670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:66308670G>A	ENST00000536545.1	+	4	1231	c.420G>A	c.(418-420)tgG>tgA	p.W140*	HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000354636.3_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000393577.3_Intron			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	0					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		ggccaggctggtctcgaactc	0.507000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								7	6					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941918	75941918	+	Silent	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:75941918C>A	ENST00000308527.5	+	1	1672	c.475C>A	c.(475-477)Cgg>Agg	p.R159R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	159					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATGGCCTTCCGGCCCAAGCC	0.652000													3	34					0.115264	0.115264	1	1	0
AMDHD1	144193	broad.mit.edu	37	12	96360195	96360195	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:96360195A>G	ENST00000266736.2	+	8	1208	c.1102A>G	c.(1102-1104)Atc>Gtc	p.I368V		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	368					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGCTGCCACCATCAATGCAGC	0.498000													63	71					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733103	56733103	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:56733103G>T	ENST00000587340.1	-	7	2027	c.1332C>A	c.(1330-1332)gaC>gaA	p.D444E	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.D327E|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.D444E|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.D443E|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.D298E			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	444					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTTCTTGCAGTCTTTACATT	0.517000													12	24					2.27111e-07	2.48183e-07	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77807357	77807357	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr13:77807357C>G	ENST00000407578.2	-	18	2937	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E853Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E853Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAGCCTGTTCTCGATGGTTC	0.423000													62	65					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50789753	50789753	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:50789753G>A	ENST00000440075.2	+	34	4601	c.4554G>A	c.(4552-4554)gaG>gaA	p.E1518E	MYH14_ENST00000596571.1_Silent_p.E1477E|MYH14_ENST00000262269.8_Silent_p.E1518E|MYH14_ENST00000425460.1_Silent_p.E1485E|MYH14_ENST00000601313.1_Silent_p.E1518E|MYH14_ENST00000598205.1_Silent_p.E1485E|MYH14_ENST00000376970.2_Silent_p.E1510E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1477					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGGCAGAGGAGAAGGCAGCTG	0.612000													4	9					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113085026	113085026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:113085026C>A	ENST00000393845.2	-	19	2641	c.2575G>T	c.(2575-2577)Gga>Tga	p.G859*	WDR52_ENST00000295868.2_Nonsense_Mutation_p.G859*	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	859										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTAATACATCCATAATTATTG	0.343000													16	62					9.16793e-09	1.0563e-08	1	1	0
AEN	64782	broad.mit.edu	37	15	89172609	89172609	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:89172609G>A	ENST00000332810.3	+	3	844	c.693G>A	c.(691-693)cgG>cgA	p.R231R	AEN_ENST00000379231.3_Silent_p.R231R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	231	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCGGGCCCGGGTCTCTCTAA	0.647000													29	29					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11018764	11018764	+	Silent	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:11018764G>T	ENST00000327064.4	+	3	586	c.396G>T	c.(394-396)ctG>ctT	p.L132L	CARM1_ENST00000344150.4_Silent_p.L132L	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	132					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCCACACCCTGGAGCGGTCTG	0.627000													14	74					6.31663e-08	7.123e-08	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	45					0.004672	0.00480808	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12124951	12124951	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr6:12124951G>A	ENST00000379388.2	+	4	5255	c.4923G>A	c.(4921-4923)caG>caA	p.Q1641Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1641					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TACGCCTGCAGAGTAGTGTTC	0.498000													53	69					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													4	94					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528321	5528321	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr20:5528321C>A	ENST00000379019.4	-	20	2217	c.2005G>T	c.(2005-2007)Gtg>Ttg	p.V669L	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	669					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GCATTCTCCACGTTATCAATG	0.463000													9	97					1.12685e-05	1.19446e-05	1	1	0
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr4:110737358G>C	ENST00000226796.6	+	2	302	c.38G>C	c.(37-39)cGa>cCa	p.R13P	GAR1_ENST00000394631.3_Missense_Mutation_p.R13P	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	13	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGCTTTAATCGAggtggtgga	0.577000													27	32					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127624923	127624923	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr5:127624923C>T	ENST00000508053.1	-	58	7507	c.6533G>A	c.(6532-6534)aGc>aAc	p.S2178N	FBN2_ENST00000262464.4_Missense_Mutation_p.S2178N			P35556	FBN2_HUMAN	fibrillin 2	2178	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATGCCTGGGCTCTCAAGACA	0.433000													41	68					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6215671	6215671	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:6215671C>T	ENST00000262450.3	-	4	593	c.494G>A	c.(493-495)aGc>aAc	p.S165N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	165					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GAGGAACTGGCTGAAGGCCTT	0.637000													15	25					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr16:90161618C>T	ENST00000567960.1	+	0	354				TUBB8P7_ENST00000564451.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													3	27					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11078469	11078469	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr7:11078469G>A	ENST00000403050.3	+	11	2515	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K	PHF14_ENST00000445996.2_Missense_Mutation_p.R403K	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	688							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTACTAGGCAGAATCACAGGG	0.373000													10	13					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													4	43					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718571	80718571	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr16:80718571G>A	ENST00000570137.2	-	2	635	c.480C>T	c.(478-480)gaC>gaT	p.D160D	CDYL2_ENST00000566173.1_Silent_p.D160D|CDYL2_ENST00000562812.1_Silent_p.D160D|CDYL2_ENST00000563890.1_Silent_p.D160D|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGAGCCGGCGTCCCCATTTT	0.512000													43	51					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121437719	121437719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:121437719C>A	ENST00000260197.7	+	22	3249	c.3120C>A	c.(3118-3120)tgC>tgA	p.C1040*	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1040	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTAGAAGCTGCAGGTGTCCAG	0.562000													3	28					0.115264	0.115264	1	1	0
WDR52	55779	broad.mit.edu	37	3	113085025	113085025	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:113085025C>T	ENST00000393845.2	-	19	2642	c.2576G>A	c.(2575-2577)gGa>gAa	p.G859E	WDR52_ENST00000295868.2_Missense_Mutation_p.G859E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	859										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTTAATACATCCATAATTATT	0.343000													16	65					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63862666	63862666	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr15:63862666C>T	ENST00000268049.7	+	10	1054	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.R249C|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.R266C|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.R177C|USP3_ENST00000539772.1_Missense_Mutation_p.R17C|USP3_ENST00000540797.1_Missense_Mutation_p.R222C|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	266					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TGAATTCATGCGCTACCTTTT	0.512000													22	31					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26043218	26043218	+	Silent	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr13:26043218C>T	ENST00000381655.2	+	2	322	c.180C>T	c.(178-180)ctC>ctT	p.L60L	ATP8A2_ENST00000255283.8_Silent_p.L20L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	20					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCATTTACCTCAACCAACCGC	0.597000													12	18					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201796	135201796	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr9:135201796G>C	ENST00000372169.2	-	10	5371	c.5189C>G	c.(5188-5190)tCa>tGa	p.S1730*	SETX_ENST00000393220.1_Nonsense_Mutation_p.S1730*|SETX_ENST00000224140.5_Nonsense_Mutation_p.S1730*			Q7Z333	SETX_HUMAN	senataxin	1730					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)		CACAGGTCTTGAGATGGACTG	0.368000													28	3					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179054987	179054987	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:179054987A>C	ENST00000367627.3	+	3	1350	c.598A>C	c.(598-600)Acg>Ccg	p.T200P	TOR3A_ENST00000352445.6_Missense_Mutation_p.T200P|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	200					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GTTCATCGCCACGTTCCACTT	0.597000													16	17					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176691	121176691	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:121176691G>A	ENST00000242592.4	+	8	1153	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	ACADS_ENST00000411593.2_Silent_p.L330L	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	334						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGCCATGCTGAAGGATAACA	0.642000													22	38					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54675749	54675749	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:54675749C>A	ENST00000376591.4	-	2	332	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TMC4_ENST00000301187.4_Missense_Mutation_p.E61D	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCTCCATCCTCCTCCTCCT	0.642000													4	56					0.00909568	0.0092706	1	1	0
ALG10B	144245	broad.mit.edu	37	12	38714753	38714753	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:38714753C>T	ENST00000308742.4	+	3	1476	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	387					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATAGCTGACTCATTGAAATCA	0.303000													41	52					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102079462	102079462	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr7:102079462G>A	ENST00000356387.2	+	3	294	c.59G>A	c.(58-60)gGc>gAc	p.G20D	ORAI2_ENST00000473939.1_Missense_Mutation_p.G20D|ORAI2_ENST00000403646.3_Missense_Mutation_p.G20D|ORAI2_ENST00000478730.2_Missense_Mutation_p.G20D|ORAI2_ENST00000488996.1_Intron	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	20						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCTGAGCCCGGCCATAAGGGC	0.622000													4	110					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110581	175110581	+	Silent	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr5:175110581C>T	ENST00000231683.2	+	1	2118	c.345C>T	c.(343-345)gaC>gaT	p.D115D	HRH2_ENST00000377291.2_Silent_p.D115D	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	115					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TCAGCCTCGACCGGTACTGCG	0.542000													3	37					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088531	109088531	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:109088531A>G	ENST00000309863.6	+	6	3460	c.2746A>G	c.(2746-2748)Aaa>Gaa	p.K916E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	916					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTAGAACAAAAAGAATTACG	0.284000													21	38					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068146	189068146	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr4:189068146T>C	ENST00000332517.3	+	6	1167	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	343	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGACACTACTGGGAGGTGGA	0.562000													26	24					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40085528	40085528	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr7:40085528C>A	ENST00000181839.4	+	6	3052	c.2447C>A	c.(2446-2448)tCa>tAa	p.S816*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.S816*|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	816	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACATAAAGTCATTTATGAGA	0.333000													53	82					2.47907e-22	3.02047e-22	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	53					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659906	179659906	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:179659906G>A	ENST00000444136.1	+	18	3186	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	TDRD5_ENST00000294848.8_Missense_Mutation_p.R925H|TDRD5_ENST00000367614.1_Missense_Mutation_p.R925H	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	925					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.R925H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGACAAGCGTCAAGAATCT	0.418000													24	29					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	7					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105460399	105460399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:105460399G>A	ENST00000258494.9	-	5	783	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	ALDH1L2_ENST00000424857.2_Nonsense_Mutation_p.Q215*	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	215	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCTTCTGGCTGGGGTATACGA	0.443000													18	20					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50822731	50822731	+	Silent	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:50822731C>G	ENST00000398473.2	+	3	292	c.180C>G	c.(178-180)ctC>ctG	p.L60L	LARP4_ENST00000347328.5_Silent_p.L60L|LARP4_ENST00000293618.8_Silent_p.L60L|LARP4_ENST00000522085.1_Silent_p.L60L|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000518444.1_Silent_p.L59L|LARP4_ENST00000429001.3_Silent_p.L66L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	60							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGCAGAGCTCTCAGAAGATA	0.333000													20	23					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3735128	3735128	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:3735128C>T	ENST00000324932.7	-	19	2917	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R	NUP98_ENST00000397007.4_Missense_Mutation_p.G850R|NUP98_ENST00000397004.4_Missense_Mutation_p.G833R|NUP98_ENST00000355260.3_Missense_Mutation_p.G833R|NUP98_ENST00000359171.4_Missense_Mutation_p.G833R	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	850	Peptidase S59.				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)		TCCAATCTTCCTTCATAGTTG	0.418000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								20	33					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123426754	123426754	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:123426754C>T	ENST00000360772.3	-	17	2615	c.2237G>A	c.(2236-2238)gGt>gAt	p.G746D	MYLK_ENST00000475616.1_Missense_Mutation_p.G746D|MYLK_ENST00000359169.1_Missense_Mutation_p.G746D|MYLK_ENST00000360304.3_Missense_Mutation_p.G746D|MYLK_ENST00000346322.5_Missense_Mutation_p.G677D			Q15746	MYLK_HUMAN	myosin light chain kinase	746	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AAAGGGGTCACCAGCTATGGC	0.592000													13	18					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11018765	11018765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:11018765G>T	ENST00000327064.4	+	3	587	c.397G>T	c.(397-399)Gag>Tag	p.E133*	CARM1_ENST00000344150.4_Nonsense_Mutation_p.E133*	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	133					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCACACCCTGGAGCGGTCTGT	0.627000													14	73					6.31663e-08	7.123e-08	1	1	0
AMER1	139285	broad.mit.edu	37	X	63410941	63410941	+	Silent	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chrX:63410941C>T	ENST00000330258.3	-	2	2498	c.2226G>A	c.(2224-2226)agG>agA	p.R742R	AMER1_ENST00000403336.1_Silent_p.R742R|AMER1_ENST00000374869.3_Silent_p.R742R	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGTAGGCCCTCCTGGGAGATC	0.507000													25	0					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099308	133099308	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr3:133099308G>A	ENST00000515826.1	+	3	876	c.753G>A	c.(751-753)caG>caA	p.Q251Q	TMEM108_ENST00000321871.6_Silent_p.Q251Q|TMEM108_ENST00000393130.3_Silent_p.Q251Q|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	251						integral to membrane		p.Q251H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CACAGCCCCAGACAGTGGCTG	0.632000													12	13					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117265193	117265193	+	Missense_Mutation	SNP	G	G	T	rs147802563		TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:117265193G>T	ENST00000278935.3	+	21	2891	c.2744G>T	c.(2743-2745)cGc>cTc	p.R915L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	915	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACTTGCGGCGCCGGCACAGG	0.662000													8	10					5.4927e-09	6.39809e-09	1	1	0
KCNK10	54207	broad.mit.edu	37	14	88658717	88658717	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr14:88658717G>C	ENST00000340700.5	-	5	1155	c.704C>G	c.(703-705)tCa>tGa	p.S235*	KCNK10_ENST00000312350.5_Nonsense_Mutation_p.S240*|KCNK10_ENST00000319231.5_Nonsense_Mutation_p.S240*	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	235					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAGGATGGTTGAGATGACCCG	0.493000													42	46					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680000	44680000	+	Silent	SNP	A	A	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:44680000A>G	ENST00000590089.1	+	7	952	c.585A>G	c.(583-585)aaA>aaG	p.K195K	ZNF226_ENST00000337433.5_Silent_p.K195K|ZNF226_ENST00000454662.2_Silent_p.K195K|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	195				K -> E (in Ref. 1; AAF34786).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TAAAAAATAAATTATGTCAAT	0.368000													17	33					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	131					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61539083	61539083	+	Silent	SNP	C	C	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr11:61539083C>A	ENST00000278836.5	+	6	948	c.852C>A	c.(850-852)gcC>gcA	p.A284A	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.A275A	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCGTGACAGCCCTGCCTCTGC	0.642000													10	118					2.61681e-11	3.11666e-11	1	1	0
RXFP4	339403	broad.mit.edu	37	1	155912245	155912245	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:155912245C>T	ENST00000368318.3	+	1	766	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	249						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCTGTCCGCATCCTGGT	0.637000													20	24					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145007406	145007406	+	Silent	SNP	G	G	A			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr8:145007406G>A	ENST00000322810.4	-	13	1957	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	PLEC_ENST00000345136.3_Silent_p.L459L|PLEC_ENST00000436759.2_Silent_p.L486L|PLEC_ENST00000398774.2_Silent_p.L427L|PLEC_ENST00000527096.1_Silent_p.L482L|PLEC_ENST00000354589.3_Silent_p.L459L|PLEC_ENST00000356346.3_Silent_p.L445L|PLEC_ENST00000357649.2_Silent_p.L463L|PLEC_ENST00000354958.2_Silent_p.L437L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	596	Globular 1.				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						GTCCATCCTTGAGGGTCTGCA	0.672000													10	17					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551986	68551986	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr12:68551986C>G	ENST00000229135.3	-	2	299	c.168G>C	c.(166-168)ttG>ttC	p.L56F	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	56					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TCCAATTCTTCAAAATGCCTA	0.333000													7	16					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97278257	97278267	+	Splice_Site	DEL	TCTTTTTATAG	TCTTTTTATAG	-			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr1:97278257_97278267delTCTTTTTATAG	ENST00000609116.1	+	12	1253		c.e12-1		PTBP2_ENST00000370197.1_Splice_Site|PTBP2_ENST00000426398.2_Splice_Site|PTBP2_ENST00000370198.1_Splice_Site|PTBP2_ENST00000394184.3_Splice_Site|PTBP2_ENST00000541987.1_Splice_Site|PTBP2_ENST00000482253.1_Splice_Site			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGACATGCTTTCTTTTTATAGCCATGAATCA	0.284													9	25	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100623295	100623295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr2:100623295delG	ENST00000409236.2	-	5	784	c.672delC	c.(670-672)cccfs	p.P224fs	AFF3_ENST00000409579.1_Frame_Shift_Del_p.P249fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.P249fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.P224fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P249L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGACCAGGCTGGGTTTTGAAG	0.582													18	34	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8399533	8399534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:8399533_8399534insC	ENST00000330915.3	-	3	1242_1243	c.1177_1178insG	c.(1177-1179)gccfs	p.A393fs	KANK3_ENST00000593649.1_Frame_Shift_Ins_p.A393fs	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	393										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CTGGGCCCGGGCCCCCGCCGCT	0.738													3	3	---	---	---	---					
ATP13A1	57130	broad.mit.edu	37	19	19764796	19764796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr19:19764796delG	ENST00000357324.6	-	14	1997	c.1971delC	c.(1969-1971)cccfs	p.P657fs	ATP13A1_ENST00000291503.5_Frame_Shift_Del_p.P539fs|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	657					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCAGAGTTTCGGGGGCCCCCT	0.647													2	4	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs71715453		TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366													3	4	---	---	---	---					
SMARCA1	6594	broad.mit.edu	37	X	128582370	128582371	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GU-A763-01A-11D-A32B-08	TCGA-GU-A763-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef419c48-bfec-4d63-89c7-2dc629df220c	dd5b8ff3-b2ea-474e-a548-2aa477011cb1	g.chrX:128582370_128582371insT	ENST00000371122.4	-	24	3209_3210	c.3080_3081insA	c.(3079-3081)aatfs	p.N1027fs	SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.N1015fs|SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.N1015fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1027					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CAATTTCCATATTTTCTTTCTC	0.332													38	4	---	---	---	---					
