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
DUSP10	11221	broad.mit.edu	37	1	221912532	221912532	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:221912532C>A	ENST00000366899.3	-	2	793	c.555G>T	c.(553-555)aaG>aaT	p.K185N	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	185	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGATGTGACTCTTGTTGTACT	0.512000													47	31					1.30916e-28	1.63321e-28	1	1	0
FOXA3	3171	broad.mit.edu	37	19	46375995	46375995	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:46375995G>A	ENST00000302177.2	+	2	929	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	244					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCACCCCCGCGGCCACAGTCA	0.692000													11	3					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108060031	108060031	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:108060031T>C	ENST00000278612.8	-	6	463	c.358A>G	c.(358-360)Atc>Gtc	p.I120V		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	120	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGCCGTTTGATTTCTGCAATT	0.423000													46	62					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413000													4	122					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637100	39637100	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:39637100C>T	ENST00000246639.2	-	1	292	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	KRT35_ENST00000393989.1_Missense_Mutation_p.G84S			Q92764	KRT35_HUMAN	keratin 35	84	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CAGCCCCCACCCCCACTGTAG	0.637000													24	51					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119327323	119327323	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:119327323T>C	ENST00000522284.1	-	8	1849	c.1474A>G	c.(1474-1476)Att>Gtt	p.I492V	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000338891.7_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron			Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	0										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						atgccaagaatgcctggtgct	0.443000													30	64					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113327358	113327358	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113327358C>T	ENST00000264852.4	+	17	2421	c.1695C>T	c.(1693-1695)tgC>tgT	p.C565C	SIDT1_ENST00000393830.3_Silent_p.C565C|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	565						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACCATGTCTGCCCTAATTATT	0.423000													58	226					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103377765	103377765	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:103377765G>T	ENST00000358392.2	-	54	4389	c.4072C>A	c.(4072-4074)Cct>Act	p.P1358T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1230T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1346T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1307T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1346	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGCCAGGAGGACCCTATAAA	0.388000													6	10					0.000157383	0.000164567	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46875728	46875728	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr21:46875728C>T	ENST00000359759.4	+	1	305	c.284C>T	c.(283-285)aCt>aTt	p.T95I	COL18A1_ENST00000355480.5_Missense_Mutation_p.T95I|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	95					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GACACCCCCACTTCTGCCGAG	0.652000													37	61					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792431	87792431	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:87792431T>C	ENST00000398204.4	+	23	2335	c.2012T>C	c.(2011-2013)gTg>gCg	p.V671A	ADAM22_ENST00000398201.4_Missense_Mutation_p.V671A|ADAM22_ENST00000315984.7_Missense_Mutation_p.V671A|ADAM22_ENST00000265727.7_Missense_Mutation_p.V671A|ADAM22_ENST00000398209.3_Missense_Mutation_p.V671A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	671	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCTTCCTGTGGCTTCTTTC	0.423000													36	62					0	0	1	0	0
NHLRC4	283948	broad.mit.edu	37	16	618295	618295	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:618295G>T	ENST00000424439.2	+	2	905	c.248G>T	c.(247-249)tGc>tTc	p.C83F	NHLRC4_ENST00000540585.1_Missense_Mutation_p.C83F|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	83																	CCACCCATCTGCCTGGTGTCA	0.637000													9	14					0.335167	0.337849	1	1	0
MBD6	114785	broad.mit.edu	37	12	57919495	57919495	+	Silent	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:57919495T>C	ENST00000355673.3	+	6	1100	c.744T>C	c.(742-744)ccT>ccC	p.P248P	MBD6_ENST00000431731.2_Silent_p.P248P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	248	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCGGCCCCTCATGCCTCCT	0.622000													4	159					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259677	16259677	+	Missense_Mutation	SNP	C	C	G	rs72664230		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:16259677C>G	ENST00000205557.7	-	23	3138	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1037	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGTGTCCGCTCAAAGAAGCTG	0.592000													17	119					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182723	112182723	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:112182723G>C	ENST00000455480.2	+	14	2261	c.2084G>C	c.(2083-2085)aGa>aCa	p.R695T	ACAD10_ENST00000549590.1_Missense_Mutation_p.R664T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R266T|ACAD10_ENST00000313698.4_Missense_Mutation_p.R664T	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	664							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCACCTGTCAGAGAGCTGTAT	0.582000													17	117					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88834371	88834371	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:88834371C>T	ENST00000277865.4	-	4	679	c.582_splice	c.e4-1	p.D195_splice	GLUD1_ENST00000537649.1_Splice_Site_p.D28_splice|GLUD1_ENST00000544149.1_Splice_Site_p.D62_splice	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	195					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATTCATTATCCTGTAAAATA	0.299000													12	105					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48826281	48826281	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:48826281A>T	ENST00000316623.5	-	8	1313	c.858T>A	c.(856-858)tgT>tgA	p.C286*		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	286	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTACCTTCACATTTTTGTG	0.428000													164	365					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43173698	43173698	+	RNA	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:43173698C>G	ENST00000522175.2	+	0	984							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTAGTTCCACAAAGAAA	0.408000													40	70					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852093	14852093	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:14852093C>G	ENST00000358984.4	+	36	3973	c.3793C>G	c.(3793-3795)Caa>Gaa	p.Q1265E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1350										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAACATGCACAAAGAGACCG	0.373000													3	25					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134538	128134538	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:128134538G>A	ENST00000368250.1	-	5	1509	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	THEMIS_ENST00000543064.1_Silent_p.I416I|THEMIS_ENST00000537166.1_Silent_p.I381I|THEMIS_ENST00000368248.2_Silent_p.I416I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	416	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTTTGAGGATTTTTTCAC	0.448000													42	83					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808025	5808025	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:5808025C>G	ENST00000380191.4	-	11	1572	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E383Q|GDI2_ENST00000380132.4_Missense_Mutation_p.E432Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	428					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAGTCAAACTCTGATCCTGTC	0.358000													18	63					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62213681	62213681	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:62213681A>G	ENST00000394997.1	+	15	2627	c.2362A>G	c.(2362-2364)Atg>Gtg	p.M788V	HIF1A_ENST00000539097.1_Missense_Mutation_p.M811V|HIF1A_ENST00000557538.1_Missense_Mutation_p.M728V|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_3'UTR|HIF1A_ENST00000337138.4_Missense_Mutation_p.M787V			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	787	CTAD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GGGGCAATCAATGGATGAAAG	0.378000													22	163					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283569	152283569	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:152283569G>T	ENST00000368799.1	-	3	3828	c.3793C>A	c.(3793-3795)Cac>Aac	p.H1265N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCTGGTGCCTGCTTGTC	0.557000									Ichthyosis				115	292					1.06059e-47	1.34984e-47	1	1	0
METTL3	56339	broad.mit.edu	37	14	21971933	21971933	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:21971933G>A	ENST00000298717.4	-	2	343	c.192C>T	c.(190-192)agC>agT	p.S64S	METTL3_ENST00000538267.1_Silent_p.S64S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	64					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGAAGCTGTGCTGGGCTTAG	0.517000													147	116					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89935704	89935704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:89935704G>A	ENST00000529726.1	-	4	4217	c.304C>T	c.(304-306)Cga>Tga	p.R102*	CHORDC1_ENST00000529987.1_Nonsense_Mutation_p.R102*|CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.R271*|CHORDC1_ENST00000320585.6_Nonsense_Mutation_p.R290*			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	290	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ACATAACTTCGCTTTACATCA	0.383000													10	54					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886758	3886758	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:3886758C>A	ENST00000319331.3	+	2	1194	c.433C>A	c.(433-435)Ctt>Att	p.L145I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	145						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCTCAGCAACCTTCAAGAACT	0.443000													23	46					3.5997e-14	4.19965e-14	1	1	0
HELZ	9931	broad.mit.edu	37	17	65105671	65105671	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:65105671G>A	ENST00000358691.5	-	29	4216	c.4050C>T	c.(4048-4050)caC>caT	p.H1350H	HELZ_ENST00000580168.1_Silent_p.H1351H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATACTGTGCGTGGGGAGCAG	0.483000													29	49					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692301	31692301	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692301G>T	ENST00000319386.3	+	14	3542	c.2549G>T	c.(2548-2550)gGg>gTg	p.G850V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G906V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998V|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGTTCAGGTGGGACCCAGTTG	0.552000													24	57					1.64293e-13	1.89917e-13	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144276846	144276846	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:144276846G>A	ENST00000295095.6	+	10	1005	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	280					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCAAATTTTTGGCTCTCATCT	0.388000													26	63					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125223552	125223552	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:125223552T>C	ENST00000251775.4	-	2	202	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	SNX4_ENST00000536067.1_Intron|SNX4_ENST00000473417.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	60					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						GAAACACTGATTTCTATCTTC	0.338000													17	48					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671495	144671495	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:144671495C>A	ENST00000532741.1	-	1	1135	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G253C|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G253C			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	31					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGATGGCCGTCAAACAGG	0.706000													5	8					0.014758	0.014996	1	1	0
OR6C70	390327	broad.mit.edu	37	12	55863563	55863563	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:55863563G>A	ENST00000327335.4	-	1	359	c.360C>T	c.(358-360)cgC>cgT	p.R120R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGGCAACATAGCGATCATAGG	0.388000													16	103					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091089	74091089	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:74091089G>C	ENST00000443185.2	-	4	3298	c.2981C>G	c.(2980-2982)gCt>gGt	p.A994G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TAGAGGAGGAGCGCCCCCTTC	0.667000													15	34					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455015	84455015	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:84455015C>G	ENST00000377084.2	-	1	1513	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	210						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTATCCTCTAGCAGGATC	0.557000													29	37					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62616363	62616363	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62616363G>C	ENST00000535781.1	+	3	455	c.344G>C	c.(343-345)aGa>aCa	p.R115T	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	115					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGGATGAAAGAAGAAAAGAA	0.418000													10	81					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50948845	50948845	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:50948845C>T	ENST00000374103.4	-	16	2136	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R475H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R627H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	684					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACGTCCTGCGGTCAACCTC	0.627000													14	45					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553698	19553698	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:19553698C>T	ENST00000409832.3	+	1	334	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	94								p.L94L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.622000													6	437					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3423085	3423085	+	RNA	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:3423085C>T	ENST00000529482.1	+	0	674																											ACGCACTCTCCGTTCAGGGCC	0.587000													9	36					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98657027	98657027	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:98657027C>T	ENST00000336273.3	+	1	621	c.293C>T	c.(292-294)gCg>gTg	p.A98V	MTDH_ENST00000519934.1_Missense_Mutation_p.A75V	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	98	Interaction with BCCIP.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			gtgccggccgcggcccccgAC	0.672000													14	10					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280454	68280454	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:68280454A>G	ENST00000433211.1	-	11	1626	c.1452T>C	c.(1450-1452)cgT>cgC	p.R484R	CTNNA3_ENST00000373744.4_Silent_p.R484R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	484					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCCATGTACGCTTGTACA	0.368000													43	87					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87567133	87567133	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87567133A>G	ENST00000521271.1	+	15	1337	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	CPNE3_ENST00000198765.4_Missense_Mutation_p.Y392C	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	392	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATAAAACTCTATGGACCAACT	0.428000													39	93					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578441	7578441	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:7578441G>C	ENST00000420246.2	-	5	621	c.489C>G	c.(487-489)taC>taG	p.Y163*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y163*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y163*(7)|p.Y163Y(3)|p.Y163fs*1(2)|p.V157_C176del20(1)|p.I162_Y163delIY(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGACTGCTTGTAGATGGCCA	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	39					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534825	26534825	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:26534825C>G	ENST00000333478.6	-	8	1756	c.1174G>C	c.(1174-1176)Gca>Cca	p.A392P	GPR113_ENST00000541401.1_Missense_Mutation_p.A194P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A591P|GPR113_ENST00000421160.2_Missense_Mutation_p.A522P	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	591					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTGCATGCCAGGGTCTCC	0.612000													19	50					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242573432	242573432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:242573432C>T	ENST00000407315.1	-	2	571	c.140G>A	c.(139-141)tGg>tAg	p.W47*		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	47							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGTGGGAGTCCAGTTATCCCT	0.443000													42	157					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648545	169648545	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:169648545C>T	ENST00000366787.3	-	4	825	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	192	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCCTTTGGCCACGTACATCC	0.587000													4	162					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179690	3179690	+	Silent	SNP	G	G	A	rs139982076	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:3179690G>A	ENST00000246115.3	+	1	955	c.900G>A	c.(898-900)tcG>tcA	p.S300S		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	300					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCTCAACTCGGCGGTCAACC	0.662000													23	75					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095538	13095538	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:13095538C>G	ENST00000506447.1	+	35	6371	c.6291C>G	c.(6289-6291)gtC>gtG	p.V2097V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.V1501V|CEP192_ENST00000430049.2_Silent_p.V1622V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1692										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGCAACGTCTCTTTGGATG	0.468000													55	139					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24463031	24463031	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:24463031C>G	ENST00000398319.2	+	16	2516	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	CABIN1_ENST00000405822.2_Missense_Mutation_p.L661V|CABIN1_ENST00000263119.5_Missense_Mutation_p.L711V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	711					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTTGTGCATCTGCTCCGCCC	0.547000													13	107					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196865257	196865257	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:196865257T>C	ENST00000346964.2	-	10	1007	c.818A>G	c.(817-819)aAt>aGt	p.N273S	DLG1_ENST00000392382.2_Missense_Mutation_p.N240S|DLG1_ENST00000357674.4_Missense_Mutation_p.N240S|DLG1_ENST00000314062.3_Missense_Mutation_p.N222S|DLG1_ENST00000448528.2_Missense_Mutation_p.N273S|DLG1_ENST00000422288.1_Missense_Mutation_p.N222S|DLG1_ENST00000419354.1_Missense_Mutation_p.N273S|DLG1_ENST00000450955.1_Missense_Mutation_p.N240S|DLG1_ENST00000443183.1_Missense_Mutation_p.N157S|DLG1_ENST00000452595.1_Missense_Mutation_p.N157S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	273	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TATACAGTCATTGACCCTGAG	0.274000													60	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105241	168105241	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:168105241G>A	ENST00000409195.1	+	9	7428	c.7339G>A	c.(7339-7341)Gca>Aca	p.A2447T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2447T|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2225T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2272					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						AGTTGAACTGGCAACCTCCCT	0.423000													17	92					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350712	101350712	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:101350712G>T	ENST00000534062.1	-	1	472	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	138										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGGTCAGTGTGAGCCTCTT	0.537000													23	9					1.50039e-11	1.71085e-11	1	1	0
RIMS1	22999	broad.mit.edu	37	6	72975745	72975745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:72975745C>T	ENST00000264839.7	+	21	3277	c.3277C>T	c.(3277-3279)Cga>Tga	p.R1093*	RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R1131*|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R540*|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.R460*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R1066*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R541*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R526*|RIMS1_ENST00000538414.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1131					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCACCAGAACGAGAAAGGTA	0.388000													4	6					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685586	2685586	+	Silent	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:2685586G>T	ENST00000274643.7	-	6	831	c.489C>A	c.(487-489)ctC>ctA	p.L163L	MYLK4_ENST00000268446.5_Silent_p.L163L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	163	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)				ACAGCTGGATGAGGTTCGCGT	0.567000													24	172					1.1804e-14	1.39653e-14	1	1	0
DMD	1756	broad.mit.edu	37	X	32632460	32632460	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:32632460G>A	ENST00000357033.4	-	12	1648	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	DMD_ENST00000288447.4_Missense_Mutation_p.P473L|DMD_ENST00000378677.2_Missense_Mutation_p.P477L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	481					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGATCAGGTCCAAGAGG	0.388000													29	26					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620407	80620407	+	Silent	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620407A>C	ENST00000466387.1	+	12	1852	c.1128A>C	c.(1126-1128)ctA>ctC	p.L376L	CTNNA2_ENST00000540488.1_Silent_p.L376L|CTNNA2_ENST00000496558.1_Silent_p.L376L|CTNNA2_ENST00000402739.4_Silent_p.L376L|CTNNA2_ENST00000361291.4_Silent_p.L410L|CTNNA2_ENST00000343114.3_Silent_p.L55L|CTNNA2_ENST00000541047.1_Silent_p.L376L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	376					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGAGATCTAAGGAGACAGG	0.333000													23	127					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18443895	18443895	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:18443895A>G	ENST00000433979.1	+	4	984	c.868A>G	c.(868-870)Ata>Gta	p.I290V	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I290V|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I290V|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.I290V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	290					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGTTTAATATACATATTTT	0.343000													6	18					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182871	114182871	+	Missense_Mutation	SNP	C	C	T	rs72559741		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:114182871C>T	ENST00000535401.1	+	5	731	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P156L|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	156					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCCTTACCCCCGGCTGACTGC	0.627000													22	34					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925107	107925107	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:107925107A>T	ENST00000328300.6	+	47	4449	c.4205A>T	c.(4204-4206)cAa>cTa	p.Q1402L	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1396L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1396	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGGACCTCAAGGCTTACCA	0.438000									Alport syndrome with Diffuse Leiomyomatosis				22	12					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25484697	25484697	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:25484697C>T	ENST00000278886.6	-	7	825	c.752G>A	c.(751-753)gGc>gAc	p.G251D	NINL_ENST00000422516.1_Missense_Mutation_p.G251D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	251	EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACTCACTTTGCCGTCTCCGTC	0.522000													4	184					0	0	1	0	0
RPLP2	6181	broad.mit.edu	37	11	812565	812565	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:812565G>T	ENST00000321153.4	+	4	597	c.203G>T	c.(202-204)gGt>gTt	p.G68V	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.G68V	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	68					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACCTGCTGGTGGGGCTGTA	0.622000													20	47					8.10497e-08	8.84179e-08	1	1	0
HHLA3	11147	broad.mit.edu	37	1	70832204	70832204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:70832204C>T	ENST00000370940.5	+	2	354	c.238C>T	c.(238-240)Cga>Tga	p.R80*	HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	0							protein binding			large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413000													3	10					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979053	67979053	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:67979053C>T	ENST00000422611.2	-	22	3148	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N	SLC12A4_ENST00000537830.2_Missense_Mutation_p.D1029N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D1004N|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D1035N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D987N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D1035N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1035					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGCGGGCGTCGTGGGAGCGC	0.587000													25	34					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99155443	99155443	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99155443G>A	ENST00000074304.5	+	9	1062	c.670_splice	c.e9+1	p.S223_splice	INPP4A_ENST00000409540.3_Splice_Site_p.S223_splice|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Splice_Site_p.S223_splice|INPP4A_ENST00000409016.3_Splice_Site_p.S223_splice|INPP4A_ENST00000545415.1_Splice_Site_p.S223_splice|INPP4A_ENST00000523221.1_Splice_Site_p.S223_splice	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	223					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGAAATCGGGTAAACAGC	0.507000													5	20					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888860	86888860	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:86888860C>T	ENST00000373119.4	+	8	1806	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	KLHL4_ENST00000373114.4_Missense_Mutation_p.A554V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	554						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATTACGTAGCCAGTATGTCA	0.428000													19	13					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101194828	101194828	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:101194828A>C	ENST00000294728.2	+	5	1195	c.1094A>C	c.(1093-1095)aAt>aCt	p.N365T	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.N303T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	365	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGGGGACCAATTCCACGCTG	0.507000													61	117					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152220	72152220	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:72152220G>A	ENST00000555818.1	+	10	3594	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P	SIPA1L1_ENST00000537413.1_Silent_p.P557P|SIPA1L1_ENST00000381232.3_Silent_p.P1082P|SIPA1L1_ENST00000358550.2_Silent_p.P1082P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1082					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAAGTCCCGTCCCAGGTGC	0.512000													20	97					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78024020	78024020	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:78024020T>A	ENST00000397545.4	+	7	1124	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.L366Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.L366Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.L366Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	366					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAGGAGCTGCAGGCCGCC	0.652000													3	11					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412023	126412023	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:126412023G>T	ENST00000394329.3	+	17	14059	c.14046G>T	c.(14044-14046)ttG>ttT	p.L4682F	FAT4_ENST00000335110.5_Missense_Mutation_p.L2923F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAAGGTTTGAGAACCAGCT	0.507000													26	32					2.27525e-19	2.75656e-19	1	1	0
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:7520913C>A	ENST00000338316.4	+	3	560	c.471C>A	c.(469-471)gaC>gaA	p.D157E		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547000													39	61					1.90571e-15	2.27601e-15	1	1	0
DPP4	1803	broad.mit.edu	37	2	162851518	162851518	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:162851518G>C	ENST00000360534.3	-	25	2712	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	718					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTGGAGATCTGAGCTGACTGC	0.483000													11	53					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27688596	27688596	+	Silent	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:27688596G>C	ENST00000493901.1	-	10	1640	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	MAP3K6_ENST00000374040.3_Silent_p.L459L|MAP3K6_ENST00000357582.2_Silent_p.L467L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	467					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGCATTGAGCTTATACA	0.567000													4	32					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155718975	155718975	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:155718975C>T	ENST00000510397.1	+	3	343	c.164C>T	c.(163-165)cCa>cTa	p.P55L	RBM46_ENST00000281722.3_Missense_Mutation_p.P55L|RBM46_ENST00000514866.1_Missense_Mutation_p.P55L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	55							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGAAGGTCCACCTCCACCT	0.348000													24	42					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14661095	14661095	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:14661095C>T	ENST00000403951.2	-	15	1614	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DGKB_ENST00000407950.1_Missense_Mutation_p.E391K|DGKB_ENST00000406247.3_Missense_Mutation_p.E399K|DGKB_ENST00000402815.1_Missense_Mutation_p.E398K|DGKB_ENST00000399322.3_Missense_Mutation_p.E399K|DGKB_ENST00000444700.2_Missense_Mutation_p.E380K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E399K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	399					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCACTCTTTTCCTTTTTCACT	0.308000													25	17					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55599289	55599289	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:55599289C>A	ENST00000288135.5	+	17	2512	c.2415C>A	c.(2413-2415)atC>atA	p.I805I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	805	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.I805I(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGTCGGATCACAAAGATTT	0.383000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				49	109					2.9001e-28	3.60013e-28	1	1	0
CLUH	23277	broad.mit.edu	37	17	2595752	2595752	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:2595752C>T	ENST00000570628.1	-	22	3451	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	CLUH_ENST00000435359.1_Missense_Mutation_p.G1116R|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116R|CLUH_ENST00000575014.1_Missense_Mutation_p.G1049R					clustered mitochondria (cluA/CLU1) homolog																		TCCATCACCCCGTGCAGCACC	0.706000													9	37					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83748144	83748144	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:83748144C>A	ENST00000369747.3	-	5	780	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	220						cytoplasm	ligase activity										CCTGATGACACGGTCTCTCCC	0.333000													34	73					4.65686e-17	5.58824e-17	1	1	0
CDH4	1002	broad.mit.edu	37	20	60511974	60511974	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:60511974C>A	ENST00000360469.5	+	16	2812	c.2724C>A	c.(2722-2724)gaC>gaA	p.D908E	CDH4_ENST00000543233.1_Missense_Mutation_p.D834E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	908					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCTGGCGGACATGTATGGAG	0.607000													14	29					9.31168e-06	9.85943e-06	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88679771	88679771	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:88679771C>A	ENST00000394480.1	-	8	1013	c.692G>T	c.(691-693)tGc>tTc	p.C231F	NTRK3_ENST00000540489.2_Missense_Mutation_p.C231F|NTRK3_ENST00000360948.2_Missense_Mutation_p.C231F|NTRK3_ENST00000357724.2_Missense_Mutation_p.C231F|NTRK3_ENST00000317501.3_Missense_Mutation_p.C231F|NTRK3_ENST00000558676.1_Missense_Mutation_p.C231F|NTRK3_ENST00000355254.2_Missense_Mutation_p.C231F|NTRK3_ENST00000557856.1_Missense_Mutation_p.C231F|NTRK3_ENST00000542733.2_Missense_Mutation_p.C133F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	231	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCCATTGCAAGTGATAAC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			13	19					2.27111e-07	2.45631e-07	1	1	0
ISPD	729920	broad.mit.edu	37	7	16317850	16317850	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:16317850C>G	ENST00000407010.2	-	6	836	c.835_splice	c.e6-1	p.E279_splice	ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Splice_Site_p.E229_splice	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	279					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGAAATTCTCTCTGAAATTA	0.318000										Multiple Myeloma(15;0.18)			12	26					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692300	31692300	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692300G>C	ENST00000319386.3	+	14	3541	c.2548G>C	c.(2548-2550)Ggg>Cgg	p.G850R	CCDC129_ENST00000409210.1_Missense_Mutation_p.G906R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998R|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGTTCAGGTGGGACCCAGTT	0.552000													24	57					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120221754	120221754	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:120221754A>C	ENST00000019103.5	-	6	848	c.581T>G	c.(580-582)aTc>aGc	p.I194S		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	194					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGCGTCCTTGATGAAGTTGGA	0.577000													23	51					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666508	34666508	+	Missense_Mutation	SNP	C	C	A	rs115878225	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34666508C>A	ENST00000488417.1	+	3	1265	c.1145C>A	c.(1144-1146)cCg>cAg	p.P382Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.P192Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	192							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTGACCCTGCCGCCCAAGAAA	0.592000													17	34					5.03518e-11	5.71561e-11	1	1	0
ERGIC2	51290	broad.mit.edu	37	12	29523088	29523088	+	Silent	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:29523088T>A	ENST00000360150.4	-	3	249	c.174A>T	c.(172-174)acA>acT	p.T58T		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	58					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACTTCATCCATGTATCTTGAT	0.289000													15	62					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99711563	99711563	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:99711563G>C	ENST00000344095.4	-	3	696	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TAF6_ENST00000453269.2_Missense_Mutation_p.F57L|TAF6_ENST00000452041.1_Missense_Mutation_p.F57L|TAF6_ENST00000437822.2_Missense_Mutation_p.F94L|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Missense_Mutation_p.F114L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	57					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGTGCATGAACTTCAAGG	0.562000													12	143					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102247607	102247607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:102247607C>T	ENST00000369138.1	+	7	1526	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	GRIK2_ENST00000369134.4_Nonsense_Mutation_p.Q297*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Q346*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	346					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CAGTTCCTTGCAGTGTAATCG	0.458000													42	101					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432438	104432438	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:104432438G>A	ENST00000361820.3	-	3	2856	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	752					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAAACATACAGAAAATGGCCC	0.443000													42	78					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324328	3324328	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:3324328C>A	ENST00000291231.1	+	1	467	c.467C>A	c.(466-468)gCg>gAg	p.A156E		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTGGTGGCTGCGTCCTGGGCT	0.592000													58	91					8.3131e-28	1.02691e-27	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24523956	24523956	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:24523956G>T	ENST00000376862.3	+	2	856	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	75					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCAGCTGCTGGACCCCAACAC	0.672000													27	41					2.44723e-14	2.86838e-14	1	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748523	20748523	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:20748523G>A	ENST00000381337.2	-	4	1085	c.741C>T	c.(739-741)gtC>gtT	p.V247V	THUMPD1_ENST00000396083.2_Silent_p.V247V|THUMPD1_ENST00000431224.2_Silent_p.V333V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	247	THUMP.									NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TCAGGCAACAGACAGCTTTGA	0.413000													46	94					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33321376	33321376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:33321376C>T	ENST00000378526.4	+	9	1670	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	LIG3_ENST00000262327.5_Nonsense_Mutation_p.R513*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	513					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGATGGAGAGCGAGTCCAGGT	0.527000								Other BER factors					15	64					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73900042	73900042	+	RNA	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:73900042G>C	ENST00000450720.1	+	0	602					NR_003683.2																						CAGTAACCAAGACCAAGCCGT	0.562000													6	13					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151380618	151380618	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:151380618T>C	ENST00000271715.2	-	15	2647	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	POGZ_ENST00000392723.1_Missense_Mutation_p.Y725C|POGZ_ENST00000368863.2_Missense_Mutation_p.Y683C|POGZ_ENST00000361398.3_Missense_Mutation_p.Y725C|POGZ_ENST00000540984.1_Missense_Mutation_p.Y140C|POGZ_ENST00000531094.1_Missense_Mutation_p.Y716C|POGZ_ENST00000491586.1_Missense_Mutation_p.Y734C|POGZ_ENST00000409503.1_Missense_Mutation_p.Y769C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	778					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGTGCTATAGCGACACAG	0.458000													56	51					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326619	158326619	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:158326619C>T	ENST00000444681.2	+	5	1096	c.803C>T	c.(802-804)gCa>gTa	p.A268V	CD1E_ENST00000368165.3_Missense_Mutation_p.A277V|CD1E_ENST00000368167.3_Missense_Mutation_p.A367V|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.A166V|CD1E_ENST00000368154.1_Missense_Mutation_p.A123V|CD1E_ENST00000368160.3_Missense_Mutation_p.A355V|CD1E_ENST00000368155.3_Missense_Mutation_p.A210V|CD1E_ENST00000368157.1_Missense_Mutation_p.A111V|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.A265V|CD1E_ENST00000368163.3_Missense_Mutation_p.A300V|CD1E_ENST00000452291.2_Missense_Mutation_p.A178V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	367	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCTGCTTGGCACAAGTATCG	0.428000													17	94					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009654	9009654	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9009654A>T	ENST00000397910.4	-	39	39275	c.39072T>A	c.(39070-39072)taT>taA	p.Y13024*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13026	SEA 7.				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						TGTCCTCCCCATACTGCAGAT	0.557000													44	137					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183574980	183574980	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:183574980G>C	ENST00000511685.1	+	6	1168	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	TENM3_ENST00000406950.2_Missense_Mutation_p.E349Q					teneurin transmembrane protein 3																		TGACACATTTGAGAATGGAAA	0.413000													9	56					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49865877	49865877	+	Missense_Mutation	SNP	G	G	A	rs138113262		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:49865877G>A	ENST00000251108.6	+	10	1642	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	CDADC1_ENST00000444959.1_Missense_Mutation_p.R312H	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	510							hydrolase activity|zinc ion binding	p.R510H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAGAAGCTGCGCCTCGGAATC	0.463000													36	45					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959881	44959881	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:44959881C>T	ENST00000533940.1	-	5	610	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TP53I11_ENST00000395648.3_Silent_p.A2A|TP53I11_ENST00000525680.1_Silent_p.A2A|TP53I11_ENST00000308212.5_Silent_p.A2A|TP53I11_ENST00000531928.2_Silent_p.A2A|TP53I11_ENST00000531130.2_5'UTR	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	2					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GCTGCTTGGCCGCCATCTTCT	0.667000													3	14					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683198	87683198	+	Missense_Mutation	SNP	G	G	T	rs139207764	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87683198G>T	ENST00000320005.5	-	4	514	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156			S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTCGGGTGAGGAGAGATCTCC	0.473000													77	182					1.1397e-45	1.44324e-45	1	1	0
BBS7	55212	broad.mit.edu	37	4	122756431	122756431	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:122756431G>C	ENST00000264499.4	-	14	1562	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.S460*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	460					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCTTCAATTGAGCGAATCTG	0.358000									Bardet-Biedl syndrome				22	68					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80377699	80377699	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:80377699G>A	ENST00000337014.6	+	2	498	c.24G>A	c.(22-24)caG>caA	p.Q8Q	HEXDC_ENST00000577944.1_Silent_p.Q8Q|HEXDC_ENST00000327949.9_Silent_p.Q8Q	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	8					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCCATTTCAGATGAGATTAG	0.428000													7	53					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33926849	33926849	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:33926849G>C	ENST00000389232.4	+	25	3160	c.3090G>C	c.(3088-3090)aaG>aaC	p.K1030N	RYR3_ENST00000415757.3_Missense_Mutation_p.K1030N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1030	4 X approximate repeats.|B30.2/SPRY 2.				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)		AGCGTACCAAGAAGTCAAACA	0.458000													37	87					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34863272	34863272	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:34863272C>T	ENST00000431794.3	-	16	1955	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	478	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATGGGGCTTCCCTCAATGAG	0.522000													14	54					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60587916	60587916	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:60587916C>G	ENST00000406854.1	+	8	2499	c.1945C>G	c.(1945-1947)Ctc>Gtc	p.L649V	PCNXL4_ENST00000406949.1_Missense_Mutation_p.L415V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L649V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L415V|PCNXL4_ENST00000535349.1_5'UTR					pecanex-like 4 (Drosophila)																		TGTTGTAGGTCTCCTCCTACC	0.308000													85	86					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61259091	61259091	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61259091C>T	ENST00000295030.4	+	2	668	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	210	Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ATGAAGACCTCTGGGCAGAGA	0.463000													27	65					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108713935	108713935	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:108713935T>C	ENST00000361189.2	-	4	1492	c.1253A>G	c.(1252-1254)tAt>tGt	p.Y418C	PJA2_ENST00000361557.3_Missense_Mutation_p.Y418C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	418					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GAGTTGGTAATAATCTCCACA	0.398000													43	41					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749214	124749214	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:124749214C>T	ENST00000397801.1	+	24	3854	c.3662C>T	c.(3661-3663)cCt>cTt	p.P1221L	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.P1199L|ROBO3_ENST00000543966.1_5'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1221					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTCCTGCCCCTAGCACAGCC	0.632000													3	6					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539342	153539342	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:153539342G>A	ENST00000369915.3	+	4	695	c.506G>A	c.(505-507)tGc>tAc	p.C169Y	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.C113Y	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	169					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGAGCACTGCATAAACATC	0.507000													57	16					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701612	62701612	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62701612C>T	ENST00000361317.2	+	8	878		c.e8-1		TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000343484.5_Splice_Site|TCEA2_ENST00000465111.1_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AACACTTGCACGCATCTTCCG	0.577000											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	106					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586205	54586205	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:54586205C>A	ENST00000545554.1	+	10	3931	c.3931C>A	c.(3931-3933)Caa>Aaa	p.Q1311K	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1311K|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1309K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1311	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTCTGGGACAAACAATTGT	0.353000													47	116					3.37225e-12	3.86276e-12	1	1	0
RSPH9	221421	broad.mit.edu	37	6	43612827	43612827	+	Translation_Start_Site	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:43612827G>A	ENST00000372165.4	+	0	45				RSPH9_ENST00000372163.4_De_novo_Start_OutOfFrame	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)						cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGCGGAGCCGCTGACCTGAT	0.687000									Kartagener syndrome				12	28					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2987215	2987215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:2987215G>A	ENST00000396946.4	-	3	617	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	72	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTACCTGCTCGGTTGATCTTG	0.527000			Mis		DLBCL								9	141					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277951	41277951	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:41277951A>T	ENST00000357137.4	+	3	443	c.359A>T	c.(358-360)aAt>aTt	p.N120I	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.N97I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	120					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAGACAACAATTTCCTGTAC	0.463000													15	73					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26939671	26939671	+	Nonstop_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:26939671C>A	ENST00000344429.5	-	5	548	c.545G>T	c.(544-546)tGa>tTa	p.*182L	NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCTTGCTTCATGATATCCA	0.264000													23	162					3.08376e-08	3.37873e-08	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818970	159818970	+	RNA	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:159818970G>A	ENST00000497452.1	-	0	517																											ACGCCCCTGTGAGATTAGACT	0.483000													63	184					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709573	128709573	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:128709573C>T	ENST00000392665.2	-	2	710	c.566G>A	c.(565-567)tGc>tAc	p.C189Y	KCNJ1_ENST00000324036.3_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392666.1_Missense_Mutation_p.C189Y|KCNJ1_ENST00000440599.2_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392664.2_Missense_Mutation_p.C208Y	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	208					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GATTAGGAGGCAAAGCTTCCC	0.502000													32	64					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411329	4411329	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:4411329T>A	ENST00000254436.7	-	2	423	c.311A>T	c.(310-312)gAg>gTg	p.E104V	TRIM21_ENST00000543625.1_Missense_Mutation_p.E104V	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	104					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCCATCTTTCTCACAGAACAG	0.557000													22	52					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661485	35661485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:35661485C>G	ENST00000216106.5	+	5	1232	c.1104C>G	c.(1102-1104)taC>taG	p.Y368*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Y259*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	368					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCCCATACGCTGGAGCAG	0.517000													14	77					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199431	89199431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:89199431C>G	ENST00000295908.6	-	2	694	c.305G>C	c.(304-306)gGc>gCc	p.G102A	PPM1K_ENST00000315194.4_Missense_Mutation_p.G102A|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.G102A	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	102	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTTCCGTTTGCCAATCTGTGA	0.498000													25	36					0	0	1	0	0
MRPS17	51373	broad.mit.edu	37	7	56022709	56022709	+	Silent	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:56022709G>C	ENST00000285298.4	+	3	360	c.231G>C	c.(229-231)gtG>gtC	p.V77V	MRPS17_ENST00000426595.1_Silent_p.V172V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	77					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAAGCATGTGAAACATGAAC	0.473000													5	316					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806442	97806442	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:97806442C>G	ENST00000358642.2	+	1	426	c.426C>G	c.(424-426)ctC>ctG	p.L142L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142L(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCAACAAACTCAGCGCTCAGT	0.418000													71	291					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108197819	108197819	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:108197819C>T	ENST00000369002.4	-	19	2162	c.1983G>A	c.(1981-1983)caG>caA	p.Q661Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	661	SEC63 2.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATATTAATGTCTGCTCCTTCC	0.363000													28	148					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178283546	178283546	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:178283546C>A	ENST00000264596.3	+	10	1857	c.1739C>A	c.(1738-1740)cCt>cAt	p.P580H		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	580					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTTGTGTGTCCTCTTGGGAAG	0.398000								Base excision repair (BER), DNA glycosylases					20	97					1.55795e-14	1.83459e-14	1	1	0
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562000													86	201					7.11685e-60	9.10379e-60	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120510760	120510760	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:120510760T>G	ENST00000256646.2	-	7	1423	c.1204A>C	c.(1204-1206)Acc>Ccc	p.T402P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	402	EGF-like 10.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGGCAGGTGCAAATATAT	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	72					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17579364	17579364	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:17579364G>C	ENST00000381861.3	-	1	366	c.47C>G	c.(46-48)tCt>tGt	p.S16C	MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATTTTTGAAGAAATATCAGT	0.438000													12	52					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955304	113955304	+	Silent	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113955304T>A	ENST00000482457.2	-	1	1121	c.618A>T	c.(616-618)cgA>cgT	p.R206R		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	206						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCATACTATGTCGGAAGAAAA	0.493000													10	190					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523408	23523408	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:23523408G>T	ENST00000296682.3	+	9	1073	c.891G>T	c.(889-891)aaG>aaT	p.K297N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	297	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATCACCAAGGGGAGAAACT	0.438000										HNSCC(3;0.000094)			16	88					6.94344e-10	7.77666e-10	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	138					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4859307	4859307	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:4859307C>T	ENST00000323997.6	+	9	1068	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ENO3_ENST00000518175.1_Silent_p.N312N|ENO3_ENST00000519584.1_Silent_p.N269N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	312					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGGGGGTGAACATCCAGATTG	0.577000													13	83					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529248	43529248	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:43529248T>A	ENST00000290429.5	-	4	1019	c.974A>T	c.(973-975)aAg>aTg	p.K325M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	325					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CTGCTCCCACTTCACTGGGGA	0.582000													124	134					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620362	80620362	+	Silent	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620362T>C	ENST00000466387.1	+	12	1807	c.1083T>C	c.(1081-1083)ccT>ccC	p.P361P	CTNNA2_ENST00000540488.1_Silent_p.P361P|CTNNA2_ENST00000496558.1_Silent_p.P361P|CTNNA2_ENST00000402739.4_Silent_p.P361P|CTNNA2_ENST00000361291.4_Silent_p.P395P|CTNNA2_ENST00000343114.3_Silent_p.P40P|CTNNA2_ENST00000541047.1_Silent_p.P361P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	361					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGGAGATCCTCTCAACATTG	0.289000													23	136					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62148536	62148536	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:62148536A>T	ENST00000261517.5	-	83	11098	c.11025T>A	c.(11023-11025)gaT>gaA	p.D3675E	VPS13C_ENST00000249837.3_Missense_Mutation_p.D3632E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3675					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAATACAAAATCTTCAAATG	0.348000													22	66					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702112	179702112	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179702112A>T	ENST00000420890.2	-	23	3951	c.3834T>A	c.(3832-3834)gaT>gaA	p.D1278E	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D703E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	703							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCTCTCTTATCATTGCATG	0.512000													19	66					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69640540	69640540	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:69640540G>T	ENST00000370598.1	+	4	1668	c.847G>T	c.(847-849)Gct>Tct	p.A283S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	283					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCTGATGCTGCTAAATTTAT	0.348000													14	34					7.93312e-07	8.54336e-07	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260223	90260223	+	RNA	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:90260223A>G	ENST00000471857.1	+	0	507																											GCAACTTATTACTGTCAACAG	0.498000													72	141					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656667	240656667	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:240656667C>T	ENST00000318160.4	-	2	375	c.109G>A	c.(109-111)Ggc>Agc	p.G37S		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	37					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTGCTGCTGCCGTCCTTGTAA	0.642000													19	23					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66618320	66618320	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:66618320A>T	ENST00000319194.5	+	12	1831	c.1570A>T	c.(1570-1572)Att>Ttt	p.I524F	DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.I607F	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	607					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTTGATGATATTCCAGAATT	0.453000													44	97					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38433395	38433395	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:38433395A>G	ENST00000323571.4	+	7	1481	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	WIPF2_ENST00000585043.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000583130.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000536600.1_Missense_Mutation_p.Y156C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.Y156C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	414						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCAGAAGAATATAAACACTTT	0.348000										HNSCC(43;0.11)			26	117					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049359	67049359	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:67049359C>T	ENST00000308595.5	+	11	1183	c.893C>T	c.(892-894)gCg>gTg	p.A298V	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A298V	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	298	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCTTCTATGCGGCCGAGATC	0.642000													4	89					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010177	35010177	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010177C>G	ENST00000231420.6	-	12	1466	c.1266G>C	c.(1264-1266)cgG>cgC	p.R422R		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	422					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CAAATTCATCCCGCAGCTTAG	0.428000													71	73					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368230	86368230	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:86368230T>C	ENST00000400286.2	-	2	3012	c.2414A>G	c.(2413-2415)tAc>tGc	p.Y805C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	805						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACGTGAGTACATTAATGT	0.398000													8	113					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880645	237880645	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:237880645C>G	ENST00000366574.2	+	72	10788	c.10471C>G	c.(10471-10473)Ctg>Gtg	p.L3491V	RYR2_ENST00000360064.6_Missense_Mutation_p.L3489V|RYR2_ENST00000542537.1_Missense_Mutation_p.L3475V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3491					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCATTGCTCTGGCCAAAAA	0.498000													18	16					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19581327	19581327	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:19581327T>G	ENST00000330263.4	+	2	377	c.80T>G	c.(79-81)aTa>aGa	p.I27R	MRTO4_ENST00000493700.1_3'UTR	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	27					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAACCTGATAGAAGAGGTA	0.403000													36	77					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776512	2776512	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:2776512A>T	ENST00000380605.2	-	11	1517	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	485					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCTTCATCCACTTGATTACT	0.637000													23	44					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310271	43310271	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:43310271G>C	ENST00000436407.3	+	2	701	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E52Q|SLC14A1_ENST00000586142.1_5'UTR|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000321925.4_5'UTR|RP11-116O18.3_ENST00000589510.1_RNA	NM_001146037.1	NP_001139509.1	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAAGGAGCCAGAGGAAGAGAT	0.527000													15	40					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74441341	74441341	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:74441341C>G	ENST00000394053.2	+	8	1105	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	MTHFD2_ENST00000409601.1_Missense_Mutation_p.S259C|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409804.1_Missense_Mutation_p.S214C|MTHFD2_ENST00000394050.3_Missense_Mutation_p.S178C|MTHFD2_ENST00000264090.4_Missense_Mutation_p.S240C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	342					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTGCTGAAGTCTAAAGAGCTT	0.473000													28	64					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34843626	34843626	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:34843626C>T	ENST00000299505.6	+	14	3852	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	993										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGCTGCCCAGCCCCAGCGCAC	0.587000													37	53					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587161	212587161	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:212587161A>T	ENST00000342788.4	-	7	1150	c.840T>A	c.(838-840)aaT>aaA	p.N280K	ERBB4_ENST00000436443.1_Missense_Mutation_p.N280K|ERBB4_ENST00000402597.1_Missense_Mutation_p.N280K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	280	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTACTTTGCATTGAAATTGT	0.373000										TSP Lung(8;0.080)			36	67					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073258	134073258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:134073258G>T	ENST00000264360.4	+	1	2789	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E655K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCCTTATGAGCTGGTGAT	0.692000													12	22					3.07112e-06	3.27933e-06	1	1	0
MAP2	4133	broad.mit.edu	37	2	210543340	210543340	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:210543340G>T	ENST00000360351.4	+	5	813	c.307G>T	c.(307-309)Gta>Tta	p.V103L	MAP2_ENST00000392194.1_Missense_Mutation_p.V103L|MAP2_ENST00000447185.1_Missense_Mutation_p.V103L|MAP2_ENST00000199940.6_Missense_Mutation_p.V103L|MAP2_ENST00000361559.4_Missense_Mutation_p.V103L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	103					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGCTGAGGCTGTAGCAGTCCT	0.413000													17	44					5.3912e-06	5.73242e-06	1	1	0
RPL7A	6130	broad.mit.edu	37	9	136216806	136216806	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:136216806A>G	ENST00000323345.6	+	4	344	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	105					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TACAGACCAGAGACAAAGCAA	0.517000													45	31					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640443	34640443	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:34640443G>T	ENST00000537011.1	+	3	756	c.374G>T	c.(373-375)gGg>gTg	p.G125V	NUTM1_ENST00000438749.3_Missense_Mutation_p.G115V|NUTM1_ENST00000333756.4_Missense_Mutation_p.G97V					NUT midline carcinoma, family member 1																		ACAGAAGGGGGGTCAGCTGAG	0.587000													32	43					9.65021e-13	1.11043e-12	1	1	0
CCSER2	54462	broad.mit.edu	37	10	86130849	86130849	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:86130849A>C	ENST00000224756.8	+	2	226	c.41A>C	c.(40-42)aAg>aCg	p.K14T	CCSER2_ENST00000359979.4_Missense_Mutation_p.K14T|CCSER2_ENST00000372088.2_Missense_Mutation_p.K14T	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TTGGGTTCCAAGTTGCCAAAG	0.343000													14	47					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20240584	20240584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:20240584C>G	ENST00000361479.5	+	10	2107	c.2039C>G	c.(2038-2040)tCa>tGa	p.S680*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.S680*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	680					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGAGGAAATTCAGACATCGTA	0.438000													26	135					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122144728	122144728	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:122144728G>A	ENST00000263710.4	-	32	3733	c.3344C>T	c.(3343-3345)aCc>aTc	p.T1115I	CLASP1_ENST00000397587.3_Missense_Mutation_p.T1094I|CLASP1_ENST00000541859.1_Missense_Mutation_p.T871I|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1110I|CLASP1_ENST00000545861.1_Missense_Mutation_p.T861I|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1087I|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1093I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1115					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGAACAGTTGGTGGGTGAGGT	0.527000													14	20					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26114470	26114470	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:26114470A>G	ENST00000381655.2	+	8	737	c.595A>G	c.(595-597)Atg>Gtg	p.M199V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M159V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	159					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)		ACCTCAGGCAATGTGTTATGT	0.388000													15	78					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27669839	27669839	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:27669839T>C	ENST00000282344.6	-	4	728	c.472A>G	c.(472-474)Att>Gtt	p.I158V		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	158					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCATTATCAATATTACCATTA	0.333000													7	45					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99976938	99976938	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99976938A>G	ENST00000289371.5	+	3	374	c.172A>G	c.(172-174)Atc>Gtc	p.I58V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	58					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAGATGATATCCTGAAAGA	0.333000													5	43					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	183					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23487587	23487587	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:23487587G>T	ENST00000263116.2	+	1	75	c.35G>T	c.(34-36)cGc>cTc	p.R12L	RAB36_ENST00000341989.4_Missense_Mutation_p.R12L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	12					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ATGCTTGGACGCGCCGCTGCC	0.667000													27	86					8.58068e-18	1.03461e-17	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178364	65178364	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178364G>T	ENST00000310045.7	-	2	4985	c.3512C>A	c.(3511-3513)aCc>aAc	p.T1171N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1161						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTGTAGAGGTGGCAAACAA	0.343000													20	61					1.2644e-06	1.35587e-06	1	1	0
ABCA2	20	broad.mit.edu	37	9	139904328	139904328	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:139904328C>T	ENST00000265662.5	-	43	6670	c.6523G>A	c.(6523-6525)Gag>Aag	p.E2175K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E2174K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E2175K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2174	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGTCAGCTCCAGCTTCTCC	0.647000													4	15					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152655242	152655242	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:152655242C>T	ENST00000367255.5	-	77	13296	c.12695G>A	c.(12694-12696)aGg>aAg	p.R4232K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4097K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4232					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCTTCCCTTTGCAAGCA	0.398000										HNSCC(10;0.0054)			79	171					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105255129	105255129	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:105255129C>T	ENST00000258538.3	-	7	1322	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	399						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACAGTTGTGTCCAGAATAAGG	0.353000													4	71					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083115	34083115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34083115G>A	ENST00000373381.4	-	38	6106	c.5930C>T	c.(5929-5931)cCg>cTg	p.P1977L	CSMD2_ENST00000373380.1_Missense_Mutation_p.P850L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCATATCCCGGCTCACACTG	0.582000													11	25					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179985006	179985006	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:179985006C>G	ENST00000367607.3	+	11	2493	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	692						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATCAGCCATCTGGAGAATCT	0.428000													10	24					0	0	1	0	0
LOC339874	339874	broad.mit.edu	37	3	131081077	131081077	+	RNA	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:131081077G>T	ENST00000502521.1	-	0	239				NUDT16P_ENST00000499077.2_RNA	NR_038976.1																						TCGCAAGACAGCAGCCTGGAG	0.667000													7	7					8.12818e-05	8.53459e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9085048	9085048	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9085048G>T	ENST00000397910.4	-	1	6970	c.6767C>A	c.(6766-6768)cCt>cAt	p.P2256H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2256	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGTATCAGGGGAGGGGGA	0.458000													6	33					0.00116845	0.00120183	1	1	0
CDH9	1007	broad.mit.edu	37	5	26881714	26881714	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:26881714G>C	ENST00000231021.4	-	12	2073	c.1901C>G	c.(1900-1902)gCt>gGt	p.A634G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	634					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCAATGCAGCAAACAACAC	0.388000													16	85					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178269	65178269	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178269G>T	ENST00000310045.7	-	2	5080	c.3607C>A	c.(3607-3609)Cta>Ata	p.L1203I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1193						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCAATTAGTTTAATTTCA	0.373000													28	71					3.65163e-15	4.34061e-15	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	82					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905264	28905264	+	Silent	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:28905264A>T	ENST00000375664.3	+	12	2193	c.1584A>T	c.(1582-1584)ggA>ggT	p.G528G	WAC_ENST00000375646.1_Silent_p.G421G|WAC_ENST00000347934.4_Silent_p.G470G|WAC_ENST00000354911.4_Silent_p.G573G			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	573					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACGTTCAAGGATGGCCTGCAG	0.413000													20	66					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588475	20588475	+	RNA	SNP	C	C	G	rs142491679	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:20588475C>G	ENST00000428453.1	-	0	4275																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGCAGTGTCCCCAGGACACC	0.488000													5	40					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044652	146044652	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:146044652A>G	ENST00000296577.4	+	16	2055	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGCAAAAAAGACAGCCTTTGT	0.373000													20	48					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592934	11592934	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:11592934C>A	ENST00000262442.3	+	20	3863	c.3795C>A	c.(3793-3795)atC>atA	p.I1265I	DNAH9_ENST00000454412.2_Silent_p.I1265I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1265	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCGAGATCCAGCAGATGG	0.498000													53	100					5.57489e-27	6.85304e-27	1	1	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34392518	34392518	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:34392518G>A	ENST00000605528.1	-	3	266	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000326199.8_Missense_Mutation_p.H84Y|RPS10_ENST00000344700.3_Missense_Mutation_p.H84Y	NM_001202470.2	NP_001189399.1																					GGGGGCAGATGAAGGTAATCA	0.547000													10	32					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111056	55111056	+	Missense_Mutation	SNP	C	C	T	rs144905099	by1000genomes	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:55111056C>T	ENST00000314721.2	+	1	430	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127Q(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCTCTAAGCCGCTGCACTAT	0.468000													60	131					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44945195	44945195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:44945195C>A	ENST00000377967.4	+	24	3560	c.3519C>A	c.(3517-3519)taC>taA	p.Y1173*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Y1180*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Y1094*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Y1128*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1173	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGAAGGTTACTGGGGTGTTC	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								35	31					9.45814e-24	1.15702e-23	1	1	0
RARB	5915	broad.mit.edu	37	3	25611300	25611300	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:25611300G>A	ENST00000330688.4	+	4	921	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	RARB_ENST00000404969.1_Missense_Mutation_p.C174Y|RARB_ENST00000458646.1_Missense_Mutation_p.C55Y|RARB_ENST00000437042.2_Missense_Mutation_p.C55Y|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGCAAGAATGCACAGAGAGC	0.498000													5	53					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225279	3225279	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:3225279C>T	ENST00000355072.5	+	55	7762	c.7617C>T	c.(7615-7617)ctC>ctT	p.L2539L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2539					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAAGCTCTCGACACCAGGT	0.602000													7	43					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13883052	13883052	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:13883052C>T	ENST00000319545.8	+	6	983	c.926C>T	c.(925-927)aCc>aTc	p.T309I	CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Missense_Mutation_p.T356I	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	356					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTAACCACCACCATCTCTTCC	0.547000													19	37					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114152668	114152668	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:114152668A>C	ENST00000434316.2	+	3	815	c.456A>C	c.(454-456)gaA>gaC	p.E152D	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E152D	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	152						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AAGAAACAGAATATATGGAAC	0.333000													18	39					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293728	71293728	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:71293728A>G	ENST00000398530.1	-	1	193	c.156T>C	c.(154-156)tgT>tgC	p.C52C	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	52	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGAGCAGGAACAGGCTGGCA	0.652000													66	372					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974454	49974454	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:49974454C>A	ENST00000555099.1	+	1	512	c.480C>A	c.(478-480)ttC>ttA	p.F160L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGATCCTCTTCATCTGTCAAT	0.443000													47	97					4.44401e-20	5.4101e-20	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642806	91642806	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:91642806C>A	ENST00000373094.1	+	5	4062	c.3217C>A	c.(3217-3219)Cat>Aat	p.H1073N	PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1036N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1063N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1036N|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1063N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1073N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1073					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGGGAGACCATGATGCAGG	0.542000													37	22					2.46787e-29	3.09405e-29	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268814	30268814	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:30268814C>A	ENST00000378981.3	+	4	525	c.204C>A	c.(202-204)acC>acA	p.T68T	MAGEB1_ENST00000397548.2_Silent_p.T68T|MAGEB1_ENST00000397550.1_Silent_p.T68T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	68										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CACCCACCACCACTGCTGCTG	0.562000													3	8					1	1	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117503966	117503966	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:117503966G>T	ENST00000393203.2	+	5	1462	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	439	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGTGGGGAGGCGAATGTCCG	0.597000													25	90					1.64293e-13	1.89917e-13	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70336360	70336360	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:70336360G>T	ENST00000409530.1	-	8	804	c.805C>A	c.(805-807)Cca>Aca	p.P269T	SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.P260T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.P270T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AACTTCTGTGGGGGAGTGCCA	0.587000													20	164					1.33834e-09	1.4923e-09	1	1	0
PFAS	5198	broad.mit.edu	37	17	8158955	8158955	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:8158955A>G	ENST00000314666.6	+	5	653	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	174					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAATGGCCCTATCAATATACT	0.597000													18	23					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757969	17757969	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:17757969C>T	ENST00000379472.3	+	1	450	c.420C>T	c.(418-420)ggC>ggT	p.G140G	KCNC1_ENST00000265969.6_Silent_p.G140G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	140						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACGGCCCTGGCGACTCGGGCG	0.726000													8	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641980	179641980	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179641980A>G	ENST00000589042.1	-	27	4934	c.4710T>C	c.(4708-4710)ggT>ggC	p.G1570G	TTN_ENST00000342175.6_Silent_p.G1524G|TTN_ENST00000342992.6_Silent_p.G1570G|TTN_ENST00000591111.1_Silent_p.G1570G|TTN_ENST00000360870.5_Silent_p.G1570G|TTN_ENST00000460472.2_Silent_p.G1524G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.G1524G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1305	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTCGGGAACCTTCCTTTA	0.393000													7	105					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121442181	121442181	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:121442181C>G	ENST00000445832.3	-	6	576	c.474G>C	c.(472-474)aaG>aaC	p.K158N	C12orf43_ENST00000537817.1_Missense_Mutation_p.K189N|C12orf43_ENST00000366211.2_Missense_Mutation_p.K147N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000288757.3_Missense_Mutation_p.K188N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K178N			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	188										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTTCTTCTTTGCCTCCT	0.597000													16	110					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61726874	61726874	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61726874T>A	ENST00000401558.2	-	7	1291	c.564A>T	c.(562-564)caA>caT	p.Q188H	XPO1_ENST00000406957.1_Missense_Mutation_p.Q188H|XPO1_ENST00000404992.2_Missense_Mutation_p.Q188H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	188	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TAGATTTGACTTGGGTTATCT	0.318000			Mis		CLL								34	67					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844120	123844120	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:123844120A>C	ENST00000369005.1	+	4	2445	c.2105A>C	c.(2104-2106)cAg>cCg	p.Q702P	TACC2_ENST00000515273.1_Missense_Mutation_p.Q702P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.Q702P|TACC2_ENST00000453444.2_Missense_Mutation_p.Q702P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.Q702P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	702						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACACCCTTCAGAGCAGGGAA	0.542000													8	36					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519934	52519934	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:52519934T>A	ENST00000270649.6	-	5	1461	c.917A>T	c.(916-918)cAg>cTg	p.Q306L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATGAGTTCGCTGATGAGCAAT	0.413000													5	299					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948897	37948897	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:37948897C>T	ENST00000373087.6	+	6	1601	c.1485C>T	c.(1483-1485)caC>caT	p.H495H		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	495	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGCTGGCCACTTCAGTGTCC	0.647000													63	99					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605500	58605500	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:58605500C>T	ENST00000267485.7	-	2	771	c.577G>A	c.(577-579)Gca>Aca	p.A193T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	193						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTCAGTTGCAAATGATTGA	0.383000													13	172					0	0	1	0	0
SCO2	9997	broad.mit.edu	37	22	50962127	50962127	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:50962127C>T	ENST00000543927.1	-	2	920	c.714G>A	c.(712-714)acG>acA	p.T238T	SCO2_ENST00000395693.3_Silent_p.T238T|SCO2_ENST00000252785.3_Silent_p.T238T|SCO2_ENST00000535425.1_Silent_p.T238T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	238	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTAGTAATCCGTGAAGAGGC	0.587000													77	74					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358000													4	69					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55411049	55411049	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:55411049C>T	ENST00000360586.3	-	25	3255		c.e25+1		WDHD1_ENST00000420358.2_Splice_Site|WDHD1_ENST00000421192.1_Splice_Site|WDHD1_ENST00000359167.4_Splice_Site	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATTATCCTTACCTTTCTTTCT	0.338000													86	79					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010176	35010176	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010176C>A	ENST00000231420.6	-	12	1467	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	423					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCAAATTCATCCCGCAGCTTA	0.428000													73	74					1.15773e-35	1.45874e-35	1	1	0
STIP1	10963	broad.mit.edu	37	11	63964770	63964770	+	Missense_Mutation	SNP	G	G	A	rs149913210		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:63964770G>A	ENST00000358794.5	+	6	1394	c.841G>A	c.(841-843)Gat>Aat	p.D281N	STIP1_ENST00000538945.1_Missense_Mutation_p.D210N|STIP1_ENST00000305218.4_Missense_Mutation_p.D234N			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	234					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCTGGGGAACGATGCCTACAA	0.443000													11	83					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124398338	124398338	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:124398338G>C	ENST00000360013.3	+	51	7478	c.7351G>C	c.(7351-7353)Gat>Cat	p.D2451H	KALRN_ENST00000428018.2_Missense_Mutation_p.D722H|KALRN_ENST00000291478.4_Missense_Mutation_p.D754H|KALRN_ENST00000462213.1_Missense_Mutation_p.D68H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2450					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGTGTGATGATCTTGACCC	0.433000													13	121					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217161	150217161	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:150217161C>A	ENST00000313543.4	+	2	256	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	33							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGGAAATCTTTGATTCTA	0.512000													7	30					0.00198382	0.0020322	1	1	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727498	25727498	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:25727498C>A	ENST00000274764.2	+	1	362	c.362C>A	c.(361-363)aCt>aAt	p.T121N		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	121					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T117_S125delTKAVTKYTS(1)		breast(1)|kidney(1)	2						AAGGCTGTCACTAAGTACACC	0.498000													20	30					1.01871e-10	1.15119e-10	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176008504	176008504	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:176008504G>A	ENST00000510636.1	+	17	2253	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CDHR2_ENST00000261944.5_Missense_Mutation_p.R660H|CDHR2_ENST00000506348.1_Missense_Mutation_p.R660H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	660	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAGGGCCGCATTGTGCTG	0.622000													6	53					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74647084	74647084	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:74647084A>G	ENST00000287936.4	+	10	1289	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	HMGCR_ENST00000511206.1_Missense_Mutation_p.N378S|HMGCR_ENST00000343975.5_Missense_Mutation_p.N378S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	378	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTGGTCAGAAATAACCAGAAA	0.388000													46	32					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539840	94539840	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:94539840T>A	ENST00000289495.5	+	1	631	c.415T>A	c.(415-417)Ttc>Atc	p.F139I	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.F139I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.F139I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.F139I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	139	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATTCCAAGTTCACTGAGAC	0.423000										HNSCC(28;0.073)			48	210					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489297	65489297	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:65489297G>A	ENST00000261883.4	-	9	3493	c.3327C>T	c.(3325-3327)agC>agT	p.S1109S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1109					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCCACATTGCTCTTCATGA	0.592000													13	47					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77793842	77793842	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:77793842C>T	ENST00000216465.5	+	4	448	c.163C>T	c.(163-165)Cct>Tct	p.P55S	GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000554279.1_Missense_Mutation_p.P55S|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000349555.3_Missense_Mutation_p.P55S|GSTZ1_ENST00000556627.1_Intron|GSTZ1_ENST00000553586.1_Missense_Mutation_p.P56S|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000557639.1_5'UTR	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	55	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GGCACTGAATCCTATGAAGCA	0.577000													12	45					0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206966	21206966	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21206966A>G	ENST00000357374.2	-	1	176	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	44					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GATTCTTCCCATTTGTCCCAG	0.522000													55	68					0	0	1	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602405	45602405	+	RNA	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:45602405G>A	ENST00000423875.1	-	0	1031																											CTACAAGGCTGCAGCAGTGAA	0.388000													8	30					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805933	58805933	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:58805933G>C	ENST00000196548.5	+	4	890	c.759G>C	c.(757-759)caG>caC	p.Q253H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCAGGTGCAGGACAAACCCT	0.483000													39	29					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													7	194	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452233	43452234	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:43452233_43452234insCA	ENST00000282388.3	-	2	1002_1003	c.709_710insTG	c.(709-711)cacfs	p.H237fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	237					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ATCGCGCGTGCCAAAGGCACGC	0.733													5	10	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													10	147	---	---	---	---					
C5orf38	153571	broad.mit.edu	37	5	2755276	2755277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:2755276_2755277insA	ENST00000397835.4	+	3	467_468	c.467_468insA	c.(466-468)aagfs	p.K156fs	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	42						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGCCGACTGAGAAggccggggc	0.777													28	28	---	---	---	---					
AKR1B1	231	broad.mit.edu	37	7	134143791	134143791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:134143791delG	ENST00000285930.4	-	1	103	c.24delC	c.(22-24)aafs	p.N9fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	9					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TGGCGCCGTTGTTGAGCAGGA	0.692											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971156	21971156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21971156delC	ENST00000579755.1	-	2	537	c.245delG	c.(244-246)ccfs	p.R82fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R82fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R123fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A17fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTGGGCTCCGCGCCGTGGAGC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	7	---	---	---	---					
NUDT13	25961	broad.mit.edu	37	10	74882016	74882017	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:74882016_74882017insA	ENST00000357321.4	+	4	425_426	c.307_308insA	c.(307-309)agcfs	p.S103fs	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Frame_Shift_Ins_p.S103fs|NUDT13_ENST00000372997.3_Frame_Shift_Ins_p.S103fs|NUDT13_ENST00000544879.1_5'UTR	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	103							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGAGCAGCAGGAAGCATGGTTT	0.446													40	98	---	---	---	---					
GNS	2799	broad.mit.edu	37	12	65152922	65152922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:65152922delC	ENST00000258145.3	-	1	305	c.135delG	c.(133-135)cgfs	p.R46fs	GNS_ENST00000542058.1_Frame_Shift_Del_p.R46fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.R46fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	46						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CGTTGGGCCTCCGGGTTCCCG	0.697													2	4	---	---	---	---					
LINC00640	283553	broad.mit.edu	37	14	51817667	51817668	+	RNA	INS	-	-	TGG			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:51817667_51817668insTGG	ENST00000555649.1	-	0	651																											CTTTCTCTCTCTGGTGAGGAAG	0.446													7	8	---	---	---	---					
RANBP1	5902	broad.mit.edu	37	22	20113982	20113982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:20113982delA	ENST00000430524.1	+	6	1157	c.326delA	c.(325-327)gtfs	p.D109fs	RANBP1_ENST00000402752.1_Intron|SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000331821.3_Intron			P43487	RANG_HUMAN	RAN binding protein 1	0	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGTCTGCCAGATAAACATTCC	0.557													10	26	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73043145	73043145	+	RNA	DEL	T	T	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:73043145delT	ENST00000604411.1	+	0	31106				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						tttttctttcttttttttttt	0.348													3	2	---	---	---	---