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
GRIA2	2891	broad.mit.edu	37	4	158233977	158233977	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:158233977C>T	ENST00000296526.7	+	4	941	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GRIA2_ENST00000264426.9_Missense_Mutation_p.R206C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R159C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R159C|GRIA2_ENST00000393815.2_Missense_Mutation_p.R159C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	206					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAAGGAACGGCGTGTAATTCT	0.378000													17	107					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98737844	98737844	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:98737844G>A	ENST00000477737.1	+	5	829	c.625G>A	c.(625-627)Gag>Aag	p.E209K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E209K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E59K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	209										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGTTGGGTTGAGAAACTGAC	0.542000													30	95					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71195909	71195909	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:71195909G>C	ENST00000370479.3	+	10	1252	c.734G>C	c.(733-735)aGa>aCa	p.R245T	FAM135A_ENST00000418814.2_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.R245T|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000505769.1_Intron			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	273										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CGTCTTCTCAGAAGAAAACAG	0.363000													4	104					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765984	57765984	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:57765984T>C	ENST00000535550.1	+	4	1894	c.1398T>C	c.(1396-1398)acT>acC	p.T466T	ZNF805_ENST00000414468.2_Silent_p.T599T|ZNF805_ENST00000354309.4_Silent_p.T466T	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ATGTCACCACTGAGGAAAATC	0.413000													4	18					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202729	71202729	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:71202729T>A	ENST00000554752.2	-	9	1861	c.1862A>T	c.(1861-1863)gAg>gTg	p.E621V	MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E621V|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000554146.1_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	621					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATTAGCTTTCTCACGTCTCTG	0.493000													31	45					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385186	41385186	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:41385186C>A	ENST00000400454.1	-	33	6291	c.5814G>T	c.(5812-5814)aaG>aaT	p.K1938N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1938				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTGGGGCGCTTCAGGGTCC	0.607000													10	54					0.000673444	0.000690401	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44879905	44879905	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:44879905G>C	ENST00000377967.4	+	6	535	c.494G>C	c.(493-495)cGa>cCa	p.R165P	KDM6A_ENST00000543216.1_Missense_Mutation_p.R165P|KDM6A_ENST00000536777.1_Missense_Mutation_p.R165P|KDM6A_ENST00000382899.4_Missense_Mutation_p.R165P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	165					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(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCTTTTGTCGAGCCAAGGAA	0.358000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	27					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785637	140785637	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:140785637G>A	ENST00000310546.2	+	2	1435	c.691G>A	c.(691-693)Gac>Aac	p.D231N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	231	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CAACGGCCTTGACCGTAAGTT	0.637000													4	85					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227144	155227144	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155227144G>C	ENST00000355379.3	-	6	911	c.633C>G	c.(631-633)ttC>ttG	p.F211L	SCAMP3_ENST00000302631.3_Missense_Mutation_p.F237L|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAAATGAAGAAGAAAACGA	0.478000													11	43					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728665	15728665	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15728665C>T	ENST00000396368.3	-	4	1161	c.955G>A	c.(955-957)Gag>Aag	p.E319K	KIAA0430_ENST00000551742.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E319K|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E141K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	318						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AACGTGGTCTCCTTCCCTGTT	0.433000													25	170					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4908075	4908075	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:4908075T>C	ENST00000396658.4	+	2	1037	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	UBN1_ENST00000590769.1_Missense_Mutation_p.Y112H|UBN1_ENST00000262376.6_Missense_Mutation_p.Y112H|UBN1_ENST00000545171.1_Missense_Mutation_p.Y112H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	112	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAAGAAAAATACGTAAGATT	0.378000													7	49					0	0	1	0	0
DCTN6	10671	broad.mit.edu	37	8	30040633	30040633	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:30040633A>G	ENST00000221114.3	+	7	604	c.517A>G	c.(517-519)Aat>Gat	p.N173D		NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	173						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AATCTTGCCAAATTACCACCA	0.388000													14	64					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742089	1742089	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1742089C>T	ENST00000381241.3	+	2	326	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	ASMT_ENST00000381229.4_Missense_Mutation_p.P43S|ASMT_ENST00000381233.3_Missense_Mutation_p.P43S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	43					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCCAGGGCCCCTGGACGT	0.637000													7	46					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78591042	78591042	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:78591042C>T	ENST00000397909.2	+	35	6480	c.6307C>T	c.(6307-6309)Cta>Tta	p.L2103L	NAV3_ENST00000228327.6_Silent_p.L2081L|NAV3_ENST00000266692.7_Silent_p.L1904L|NAV3_ENST00000536525.2_Silent_p.L2081L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2103						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAACAATATCTAGCTAACCT	0.348000										HNSCC(70;0.22)			3	25					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97780751	97780751	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:97780751A>C	ENST00000297293.5	+	4	727	c.434A>C	c.(433-435)aAt>aCt	p.N145T	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	145	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAATTGGAAATGGCTGGTTT	0.378000													35	61					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196915915	196915915	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:196915915G>C	ENST00000312428.6	-	3	237	c.137C>G	c.(136-138)tCt>tGt	p.S46C	DNAH7_ENST00000410072.1_Missense_Mutation_p.S46C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	46	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTACCATAGACAGCTGTGG	0.333000													14	149					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127703068	127703068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:127703068C>T	ENST00000405109.1	+	6	2286	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.R607*|KBTBD12_ENST00000343941.4_Nonsense_Mutation_p.R182*|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Nonsense_Mutation_p.R214*			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	607										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GATGAATCCCCGAGACCTCAT	0.522000													11	101					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79312679	79312679	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:79312679C>A	ENST00000305089.3	-	5	452	c.372G>T	c.(370-372)tgG>tgT	p.W124C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATCCAGTGTCCCAGGACTTGT	0.542000													11	76					0.00136819	0.00139263	1	1	0
MCAT	27349	broad.mit.edu	37	22	43537207	43537207	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:43537207C>T	ENST00000290429.5	-	2	517	c.472G>A	c.(472-474)Gca>Aca	p.A158T	MCAT_ENST00000327555.5_Missense_Mutation_p.A158T|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	158					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)				ACTAGGGCTGCAAACTCTCCC	0.527000													18	131					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966523	87966523	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:87966523A>G	ENST00000369577.3	+	8	3219	c.3176A>G	c.(3175-3177)aAt>aGt	p.N1059S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1054S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACATCATCCAATCTTTATAAT	0.348000													33	50					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35809934	35809934	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:35809934C>G	ENST00000216122.4	+	9	1312	c.1158C>G	c.(1156-1158)gcC>gcG	p.A386A	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.A343A	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	386	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGGACAGCCAAGTCCCAGC	0.577000													11	66					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864829	47864829	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:47864829C>G	ENST00000396105.1	-	14	4978	c.4732G>C	c.(4732-4734)Gag>Cag	p.E1578Q	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1578Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1578							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTCATCCTCAAAGCCAAAG	0.527000													21	135					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911163	202911163	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:202911163A>C	ENST00000340990.5	-	7	1287	c.989T>G	c.(988-990)tTt>tGt	p.F330C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.F330C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	330					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCATATGTCAAATTTTCCAGG	0.488000													21	59					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345759	72345759	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:72345759T>C	ENST00000299687.5	+	1	2784	c.2784T>C	c.(2782-2784)ctT>ctC	p.L928L	ZNF407_ENST00000577538.1_Silent_p.L928L|ZNF407_ENST00000582337.1_Silent_p.L928L|ZNF407_ENST00000309902.6_Silent_p.L928L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGGTAGCCTTGAAGCTGGTA	0.463000													29	45					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524863	26524863	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:26524863C>T	ENST00000456354.2	+	6	832	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	255					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCCTCTTCATCTGCATCA	0.532000													39	196					0	0	1	0	0
DCTPP1	79077	broad.mit.edu	37	16	30440485	30440485	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30440485G>T	ENST00000319285.4	-	2	199	c.105C>A	c.(103-105)cgC>cgA	p.R35R	DCTPP1_ENST00000567983.1_Intron|ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000568434.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	35					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						CATGGAGGCGGCGGCTGAAAT	0.592000													28	109					2.44723e-14	2.70334e-14	1	1	0
WDR13	64743	broad.mit.edu	37	X	48460486	48460486	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:48460486A>T	ENST00000218056.5	+	7	1551	c.1046A>T	c.(1045-1047)cAt>cTt	p.H349L		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	349						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TTGGTGGTGCATGAGGGGAGC	0.637000													23	14					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552768	98552768	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:98552768C>T	ENST00000359863.4	+	40	5966	c.5757C>T	c.(5755-5757)atC>atT	p.I1919I	TRRAP_ENST00000355540.3_Silent_p.I1901I|TRRAP_ENST00000446306.3_Silent_p.I1900I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1919					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCGAGCGATCGTCAGACAGG	0.547000													16	66					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22656567	22656567	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:22656567A>C	ENST00000400546.1	+	3	433	c.184A>C	c.(184-186)Att>Ctt	p.I62L	NCAM2_ENST00000535285.1_Missense_Mutation_p.I87L|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	62	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAGAAGATAATTTCAACACA	0.368000													10	56					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201151	166201151	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:166201151C>A	ENST00000375437.2	+	16	2939	c.2649C>A	c.(2647-2649)aaC>aaA	p.N883K	SCN2A_ENST00000375427.2_Missense_Mutation_p.N883K|SCN2A_ENST00000357398.3_Missense_Mutation_p.N883K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N883K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	883					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCTAGGAAACCTCACCTTGG	0.428000													29	188					1.39806e-14	1.55037e-14	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42582794	42582794	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:42582794T>C	ENST00000600245.1	+	2	691	c.36T>C	c.(34-36)atT>atC	p.I12I	ZNF574_ENST00000222339.7_Silent_p.I102I|ZNF574_ENST00000359044.4_Silent_p.I12I|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TCCTGTACATTGAGCACCGCT	0.552000													27	228					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71705773	71705773	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:71705773C>T	ENST00000361756.3	+	7	997	c.636C>T	c.(634-636)agC>agT	p.S212S	RNF121_ENST00000530137.1_Silent_p.S180S|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_Silent_p.S131S|RNF121_ENST00000533380.1_Silent_p.S52S|RNF121_ENST00000393713.3_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	212						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGTTCTACAGCGAGTCGGGCA	0.488000													77	81					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767794	31767794	+	Missense_Mutation	SNP	A	A	T	rs145002178		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:31767794A>T	ENST00000240587.4	-	2	3232	c.2905T>A	c.(2905-2907)Ttg>Atg	p.L969M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	969					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCAGTGTCCAAGTTTTTGAGG	0.527000													14	76					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150298253	150298253	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150298253G>T	ENST00000324862.6	+	3	355	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	PRPF3_ENST00000414970.2_Missense_Mutation_p.D64Y|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	64	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCGATTTGTGGACAAACTGTT	0.448000													23	143					2.98393e-07	3.22129e-07	1	1	0
ZNF341	84905	broad.mit.edu	37	20	32379113	32379113	+	Silent	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:32379113C>A	ENST00000375200.1	+	15	2720	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.P778P			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCTGGTGCCCGAGGCTGTCC	0.706000													22	49					5.26018e-13	5.76596e-13	1	1	0
PDGFD	80310	broad.mit.edu	37	11	103797699	103797699	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:103797699T>C	ENST00000302251.5	-	6	1361	c.910A>G	c.(910-912)Act>Gct	p.T304A	PDGFD_ENST00000393158.2_Missense_Mutation_p.T310A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	310					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGTTGACAGTTCCACAGCCA	0.443000													15	20					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109088724	109088724	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:109088724C>A	ENST00000379951.2	-	1	1388	c.200G>T	c.(199-201)aGc>aTc	p.S67I	LEF1_ENST00000438313.2_Missense_Mutation_p.S67I|LEF1_ENST00000265165.1_Missense_Mutation_p.S67I|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	67					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTGTCCGTTGCTGGCCGGGAT	0.597000													40	99					3.54561e-26	4.00991e-26	1	1	0
PRSS21	10942	broad.mit.edu	37	16	2871026	2871026	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:2871026C>G	ENST00000455114.1	+	5	721	c.615C>G	c.(613-615)ctC>ctG	p.L205L	PRSS21_ENST00000450020.3_Silent_p.L207L|PRSS21_ENST00000005995.3_Silent_p.L207L|PRSS21_ENST00000575739.1_Intron	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	207	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GCAACCACCTCTTCCTCAAGT	0.537000													59	463					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													5	90					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841729	70841729	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841729G>A	ENST00000393567.2	-	86	15270	c.15120C>T	c.(15118-15120)atC>atT	p.I5040I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5040										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTTGAAGGGGATGATTATGC	0.547000													23	75					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604002	159604002	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:159604002G>A	ENST00000337808.6	+	4	1462	c.885G>A	c.(883-885)caG>caA	p.Q295Q	IQCJ-SCHIP1_ENST00000527095.1_Silent_p.Q63Q|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.Q255Q|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.Q344Q|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.Q282Q|SCHIP1_ENST00000445224.2_Silent_p.Q52Q|SCHIP1_ENST00000482804.1_Silent_p.Q68Q|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.Q371Q	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		295						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CCAGACTGCAGAGTGGGATGA	0.443000													4	75					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45471685	45471685	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:45471685C>T	ENST00000372172.4	-	14	1900	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	HECTD3_ENST00000372168.3_Missense_Mutation_p.R220Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	610	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCTTACCCCGAAGGGCAGC	0.592000													24	113					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68014180	68014180	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:68014180C>T	ENST00000268793.4	-	1	552	c.179G>A	c.(178-180)cGc>cAc	p.R60H	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	35					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGTCTCCGCGCGGGTTACGGG	0.746000													6	20					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													4	76					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107042520	107042520	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:107042520T>C	ENST00000409886.3	-	19	2717	c.2630A>G	c.(2629-2631)tAt>tGt	p.Y877C	RGPD3_ENST00000304514.7_Missense_Mutation_p.Y877C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	877					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGACTATAATATACTGAAGG	0.333000													4	133					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324160	136324160	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:136324160C>T	ENST00000371929.3	+	29	4586	c.4142C>T	c.(4141-4143)tCa>tTa	p.S1381L	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1294L|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.S177L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1325L|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1381	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TACTGGGAGTCAGAGAGCAGC	0.627000													4	26					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857236	59857236	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:59857236C>G	ENST00000278888.3	+	2	230	c.128C>G	c.(127-129)tCa>tGa	p.S43*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	43					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAGTCGGCCTCATCCCCACCA	0.468000													9	83					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	81					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55279605	55279605	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:55279605A>C	ENST00000358193.3	+	7	935	c.881A>C	c.(880-882)gAg>gCg	p.E294A	C1orf177_ENST00000371273.3_Missense_Mutation_p.E294A	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	294										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACCCCTACAGAGAGGATTTAC	0.517000													13	159					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473533	53473533	+	RNA	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53473533A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TATCACATTTATATTTTTTCT	0.348000													16	54					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:63594565C>T	ENST00000294244.4	+	6	1399	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGTCAGAATCCAGCACCACT	0.612000													5	48					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403039	42403039	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:42403039C>T	ENST00000319234.4	+	2	506	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	96					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AGCCTGTCTACGTCCCCTTTC	0.498000													25	194					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539571	94539571	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:94539571A>C	ENST00000289495.5	+	1	362	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E49A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E49A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E49A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	49	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)			AAAGAAGGTGAGGGCTCCCAG	0.458000										HNSCC(28;0.073)			23	38					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44967348	44967348	+	RNA	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:44967348C>G	ENST00000605505.1	+	0	339					NR_028409.1															lung(3)	3						GGAGGGACGTCCTGTCAGCAG	0.562000													4	25					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25047389	25047389	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:25047389C>T	ENST00000260600.5	-	16	3445	c.2594G>A	c.(2593-2595)cGg>cAg	p.R865Q	ADCY3_ENST00000405392.1_Missense_Mutation_p.R452Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	865					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAAAAGTGTCCGTGCCAGTTT	0.527000													6	66					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34867133	34867133	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867133C>T	ENST00000505624.1	+	7	902	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	267							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATAGAGCAGCTGAGGAGGAA	0.547000													8	7					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146460970	146460970	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:146460970C>G	ENST00000515385.1	+	3	957	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	SMAD1_ENST00000302085.4_Missense_Mutation_p.L139V|SMAD1_ENST00000394092.2_Missense_Mutation_p.L139V			Q15797	SMAD1_HUMAN	SMAD family member 1	139					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TCCTCCTGTGCTGGTTCCAAG	0.393000													5	33					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132390725	132390725	+	Splice_Site	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:132390725G>A	ENST00000356232.4	+	7	1756	c.684_splice	c.e7+1	p.A228_splice	UBA5_ENST00000473651.1_Splice_Site_p.A228_splice|UBA5_ENST00000493720.2_Splice_Site_p.A228_splice|UBA5_ENST00000264991.4_Splice_Site_p.A172_splice|UBA5_ENST00000494238.2_Splice_Site_p.A172_splice	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	228					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGTTTTGCGGTATGCATTA	0.358000													13	98					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36181968	36181968	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:36181968C>T	ENST00000274255.6	+	10	1306	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SKP2_ENST00000546211.1_Silent_p.I156I|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Silent_p.I163I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTTGGAATCGTGCCAGATG	0.408000													54	73					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764145	169764145	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:169764145G>A	ENST00000375363.3	+	5	716	c.624G>A	c.(622-624)ctG>ctA	p.L208L	G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	208					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCACATACCTGAAGACCAACC	0.512000													32	143					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10064486	10064486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:10064486G>A	ENST00000256190.8	-	3	321	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	62	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AACGTTGGCTGCTTCCTCTCT	0.388000													12	38					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10781785	10781785	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:10781785G>A	ENST00000449870.1	+	3	456	c.139G>A	c.(139-141)Gac>Aac	p.D47N	ILF3_ENST00000407004.3_Missense_Mutation_p.D47N|ILF3_ENST00000318511.3_Missense_Mutation_p.D47N|ILF3_ENST00000588657.1_Missense_Mutation_p.D47N|ILF3_ENST00000589998.1_Missense_Mutation_p.D47N|ILF3_ENST00000590261.1_Missense_Mutation_p.D47N|ILF3_ENST00000592763.1_Missense_Mutation_p.D47N|ILF3_ENST00000250241.8_Missense_Mutation_p.D47N|ILF3_ENST00000420083.1_Missense_Mutation_p.D47N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	47					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.D47N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCTGTGTCCGACTGGATAGA	0.552000													6	52					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568747	229568747	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:229568747C>T	ENST00000366684.3	-	2	218	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GTGTCGGGGGCGGCCCACGAT	0.726000													6	67					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271902	22271902	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:22271902G>A	ENST00000594947.1	+	4	1494	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	450				K -> E (in Ref. 1; AAD20957).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCGACATAAGATAATTCATA	0.393000													4	31					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539487	27539487	+	RNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:27539487C>T	ENST00000574842.1	+	0	756				LRRC37A6P_ENST00000284414.4_RNA																							CTCCTGCTCACTAATGGAAAG	0.557000													8	63					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999786	45999786	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:45999786G>A	ENST00000400372.1	-	1	695	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	224	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGCGGCAGAGGAGGGACACG	0.682000													21	206					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128446756	128446756	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:128446756G>A	ENST00000297788.4	+	9	1630	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Silent_p.R368R|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	421						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TACTGTGCCGGCTGCAGAAGC	0.562000													6	41					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202589031	202589031	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:202589031C>G	ENST00000264276.6	-	21	3871	c.3499G>C	c.(3499-3501)Gat>Cat	p.D1167H	ALS2_ENST00000457679.2_Missense_Mutation_p.D479H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1167					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTGATATCATCAAAGACACCA	0.383000													5	125					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052428	201052428	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201052428G>A	ENST00000362061.3	-	10	1481	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R419C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGAAAGATGCGGTTCCACTGC	0.542000													29	156					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38460600	38460600	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:38460600C>G	ENST00000399017.2	+	4	3039	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.Q98E|TTC3_ENST00000399010.1_Missense_Mutation_p.Q98E|TTC3_ENST00000355666.1_Missense_Mutation_p.Q98E|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	98					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCAACATCAAAACAGTTC	0.388000													18	70					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151835921	151835921	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:151835921A>C	ENST00000355193.2	-	59	14992	c.14774T>G	c.(14773-14775)aTt>aGt	p.I4925S	KMT2C_ENST00000262189.6_Missense_Mutation_p.I4868S|KMT2C_ENST00000485655.2_Missense_Mutation_p.I73S					lysine (K)-specific methyltransferase 2C																		GCTGATGATAATTTTGTGTCC	0.453000													19	55					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118582169	118582169	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:118582169C>T	ENST00000263239.2	+	8	1219	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	364	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGCTCTTTTCTGCCACCCAA	0.388000													12	102					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115978258	115978258	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:115978258C>T	ENST00000251864.2	+	18	2562	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	TDRD1_ENST00000369282.1_Silent_p.I803I|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Silent_p.I803I|TDRD1_ENST00000422662.1_Silent_p.I407I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	803	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGGAAACATCGAAGAAGTTA	0.378000													15	76					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933188	150933188	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150933188G>T	ENST00000271640.5	+	16	2840	c.2650G>T	c.(2650-2652)Gac>Tac	p.D884Y	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.D884Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	884	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTGGTGTAGACTTGAAGGA	0.473000													35	86					9.17885e-22	1.02991e-21	1	1	0
SLC39A1	27173	broad.mit.edu	37	1	153932693	153932693	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:153932693T>C	ENST00000368623.3	-	3	1615	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	SLC39A1_ENST00000356205.4_Missense_Mutation_p.I286V|SLC39A1_ENST00000537590.1_Missense_Mutation_p.I184V|SLC39A1_ENST00000310483.6_Missense_Mutation_p.I286V|SLC39A1_ENST00000368621.1_Missense_Mutation_p.I286V			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	286						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGAAAGGTGATATAGAGAAAG	0.592000													21	135					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93288	93288	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:93288G>A	ENST00000447903.2	-	4	1143	c.828C>T	c.(826-828)aaC>aaT	p.N276N	TUBB8_ENST00000309812.4_Silent_p.N348N			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	348					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGTTTTTACGTTGTTGGGGA	0.493000													18	184					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188348	7188348	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188348A>T	ENST00000486284.1	+	2	1003	c.729A>T	c.(727-729)aaA>aaT	p.K243N	GRM7_ENST00000403881.1_Missense_Mutation_p.K243N|GRM7_ENST00000357716.4_Missense_Mutation_p.K243N|GRM7_ENST00000402647.2_Missense_Mutation_p.K243N|GRM7_ENST00000389336.4_Missense_Mutation_p.K243N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	243					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGATTTCCAAAGAGGCAGGTA	0.448000													8	39					0	0	1	0	0
MIR520D	574482	broad.mit.edu	37	19	54223413	54223413	+	RNA	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:54223413T>C	ENST00000385002.1	+	0	64					NR_030204.1																						AAAGTGCTTCTCTTTGGTGGG	0.438000													25	139					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332067	186332067	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:186332067C>G	ENST00000367478.3	-	6	894	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	200					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTTTCAACTCTGTATTCAGC	0.343000			T	NTRK1	papillary thyroid								3	27					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811187	23811187	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:23811187G>T	ENST00000314520.3	+	1	734	c.258G>T	c.(256-258)ccG>ccT	p.P86P	MKRN3_ENST00000564592.1_Silent_p.P86P|MKRN3_ENST00000568252.1_Silent_p.P86P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P86P(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCAGTCCGTTGCCAAGCC	0.627000													13	64					9.31168e-06	9.86553e-06	1	1	0
AADACL3	126767	broad.mit.edu	37	1	12785421	12785421	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:12785421C>T	ENST00000332530.3	+	3	527	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	AADACL3_ENST00000359318.5_Silent_p.L171L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	171							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCAAGCCCTGGATTTACA	0.502000													37	345					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097184	69097184	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:69097184G>A	ENST00000543976.1	-	2	918	c.672C>T	c.(670-672)gaC>gaT	p.D224D	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Silent_p.D224D|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	224					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCAAAGCTATGTCCTTTGTTT	0.393000													17	71					0	0	1	0	0
SPINK1	6690	broad.mit.edu	37	5	147207631	147207631	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:147207631C>T	ENST00000510027.2	-	3	205	c.148G>A	c.(148-150)Gat>Aat	p.D50N	SPINK1_ENST00000296695.5_Missense_Mutation_p.D50N			P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	50	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTTCCATCAGTCCCACAG	0.323000									Hereditary Pancreatitis				6	13					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7414795	7414795	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7414795G>A	ENST00000338316.4	+	2	409	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	107					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			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						AAGCTGCTGCGCCTCTTCTCG	0.488000													17	84					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362147	9362147	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:9362147C>A	ENST00000456448.1	+	1	542	c.428C>A	c.(427-429)gCc>gAc	p.A143D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CGGTTTGTGGCCATCTGTCAC	0.458000													13	44					0.000219431	0.000227411	1	1	0
MYH11	4629	broad.mit.edu	37	16	15844038	15844038	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15844038G>A	ENST00000338282.6	-	16	2121	c.2015C>T	c.(2014-2016)aCg>aTg	p.T672M	MYH11_ENST00000396324.3_Missense_Mutation_p.T679M|MYH11_ENST00000300036.5_Missense_Mutation_p.T672M|MYH11_ENST00000576790.1_Missense_Mutation_p.T672M|MYH11_ENST00000452625.2_Missense_Mutation_p.T679M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	672	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T672M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAAGTTGGGCGTGGTGTTGCG	0.647000			T	CBFB	AML								14	124					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286379	1286379	+	Missense_Mutation	SNP	G	G	A	rs146712342	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:1286379G>A	ENST00000381867.1	+	7	1940	c.1298G>A	c.(1297-1299)gGt>gAt	p.G433D	SNPH_ENST00000381873.3_Missense_Mutation_p.G389D			O15079	SNPH_HUMAN	syntaphilin	389					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGCGGCCTGGTGCCAACCCC	0.657000													3	28					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848553	20848553	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:20848553G>C	ENST00000262715.5	-	34	4884	c.4844C>G	c.(4843-4845)tCa>tGa	p.S1615*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.S1507*|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1615					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGAGGATTGAAGCCTGCTG	0.597000													23	84					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362870	105362870	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:105362870G>T	ENST00000369774.4	-	15	2381	c.2105C>A	c.(2104-2106)tCc>tAc	p.S702Y	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S569Y|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S537Y|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S674Y|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	702	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaagaggaggagCAGCAAGT	0.572000													31	169					3.90053e-15	4.34238e-15	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85664939	85664939	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:85664939C>G	ENST00000322366.6	-	37	6394	c.5987G>C	c.(5986-5988)aGg>aCg	p.R1996T	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1996T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1996						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTGTAGACCTTTCAGGGGA	0.323000													23	31					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163213292	163213292	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:163213292T>C	ENST00000437150.2	+	5	492	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.F92L	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	111	EF-hand 2.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AAAAATGGGATTTAATGCATT	0.353000													4	43					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36939892	36939892	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:36939892T>G	ENST00000454319.1	-	5	1381	c.1247A>C	c.(1246-1248)aAt>aCt	p.N416T	ZNF566_ENST00000392170.2_Missense_Mutation_p.N416T|ZNF566_ENST00000424129.2_Missense_Mutation_p.N415T|ZNF566_ENST00000434377.2_Missense_Mutation_p.N415T|ZNF566_ENST00000493391.1_Missense_Mutation_p.N311T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCAGTACAAATTTTGATGCTG	0.308000													3	32					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937094	15937094	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:15937094G>A	ENST00000504595.1	+	4	1756	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	FBXL7_ENST00000329673.7_Silent_p.L413L|FBXL7_ENST00000510662.1_Silent_p.L378L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	425					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCTGGCCCTGAACTGCTTCA	0.592000													9	59					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472681	77472681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:77472681G>A	ENST00000560626.2	-	4	2063	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R530*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R530*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	530					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTTGGTATCGAATTGCACTG	0.408000													24	155					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587650	110587650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:110587650C>T	ENST00000399066.3	-	6	2195	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	SYBU_ENST00000422135.1_Missense_Mutation_p.V493M|SYBU_ENST00000529175.1_Missense_Mutation_p.V287M|SYBU_ENST00000433638.1_Missense_Mutation_p.V493M|SYBU_ENST00000446070.2_Missense_Mutation_p.V492M|SYBU_ENST00000408908.2_Missense_Mutation_p.V493M|SYBU_ENST00000408889.3_Missense_Mutation_p.V374M|SYBU_ENST00000533171.1_Missense_Mutation_p.V493M|SYBU_ENST00000533895.1_Missense_Mutation_p.V492M|SYBU_ENST00000419099.1_Missense_Mutation_p.V492M|SYBU_ENST00000528647.1_Missense_Mutation_p.V492M|SYBU_ENST00000533065.1_Missense_Mutation_p.V374M|SYBU_ENST00000276646.9_Missense_Mutation_p.V493M|SYBU_ENST00000528331.1_Missense_Mutation_p.V374M|SYBU_ENST00000532779.1_Missense_Mutation_p.V425M|SYBU_ENST00000529690.1_Missense_Mutation_p.V363M|SYBU_ENST00000440310.1_Missense_Mutation_p.V493M|SYBU_ENST00000424158.2_Missense_Mutation_p.V498M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	493						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGTAGGGCACCACGTCGGTC	0.622000													20	165					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282222	130282222	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:130282222G>T	ENST00000358511.6	+	2	406	c.375G>T	c.(373-375)ggG>ggT	p.G125G	COL6A6_ENST00000453409.2_Silent_p.G125G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	125	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCGCAAATGGGAGAGACAAGA	0.507000													26	50					3.28513e-13	3.61491e-13	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103548389	103548389	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:103548389G>T	ENST00000358392.2	-	2	563	c.246C>A	c.(244-246)ctC>ctA	p.L82L	COL11A1_ENST00000353414.4_Silent_p.L82L|COL11A1_ENST00000370096.3_Silent_p.L82L|COL11A1_ENST00000512756.1_Silent_p.L82L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	82	TSP N-terminal.				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)		TTGGGGCACTGAGTTGTGCTT	0.318000													14	67					2.31682e-05	2.43651e-05	1	1	0
FARSB	10056	broad.mit.edu	37	2	223496381	223496381	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:223496381C>T	ENST00000281828.6	-	8	991	c.728G>A	c.(727-729)aGa>aAa	p.R243K	FARSB_ENST00000536361.1_Missense_Mutation_p.R144K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	243					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACTGTTATTCTGGAATGATC	0.299000													18	30					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	477500	477500	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:477500G>A	ENST00000264938.3	-	11	1716	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.N560N|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	569						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTCCACGTTGACCACGT	0.652000													10	99					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864161	31864161	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:31864161A>T	ENST00000334063.4	-	1	114	c.115T>A	c.(115-117)Tgt>Agt	p.C39S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	39						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCATAGCCACAGCCAGAACCC	0.577000													127	351					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751399	46751399	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:46751399G>A	ENST00000343304.6	-	4	1415	c.1130C>T	c.(1129-1131)gCa>gTa	p.A377V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	377										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTAGCTGGTGCCCGTTTGTA	0.617000													26	170					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34867132	34867132	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867132G>A	ENST00000505624.1	+	7	901	c.798G>A	c.(796-798)caG>caA	p.Q266Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	266							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGATAGAGCAGCTGAGGAGGA	0.547000													8	7					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18957556	18957556	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:18957556G>A	ENST00000377275.3	+	3	438	c.205G>A	c.(205-207)Ggt>Agt	p.G69S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	69					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						GGATATTGGTGGTCAGGAGTC	0.373000													9	75					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136234	19136234	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:19136234C>T	ENST00000601879.1	-	3	1220	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	SUGP2_ENST00000452918.2_Missense_Mutation_p.R308Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.R77Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R308Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.R322Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	308					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTGGGGAGCCGAAGATTCTT	0.453000													15	114					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586903	86586903	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:86586903T>C	ENST00000376263.3	-	11	1070	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	HNRNPK_ENST00000376281.4_Missense_Mutation_p.M283V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.M283V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.M283V|HNRNPK_ENST00000376264.2_Missense_Mutation_p.M283V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	283	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CGAGGGCTCATATCATCATAA	0.607000													50	49					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111854313	111854313	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:111854313C>G	ENST00000369740.1	+	3	131	c.28C>G	c.(28-30)Ctt>Gtt	p.L10V	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.L10V|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	10					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTATCCAGGTCTTGTCCTTAT	0.378000													22	115					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439089	179439089	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179439089G>C	ENST00000589042.1	-	326	71994	c.71770C>G	c.(71770-71772)Ccc>Gcc	p.P23924A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15051A|TTN_ENST00000342992.6_Missense_Mutation_p.P21356A|TTN_ENST00000359218.5_Missense_Mutation_p.P14984A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22283A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14859A|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22283	Ig-like 120.						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)			GGGTCAATGGGATCCAGAGCC	0.428000													32	228					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3430357	3430357	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:3430357C>A	ENST00000336727.3	+	16	4388	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000344733.5_Missense_Mutation_p.P1162T|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Missense_Mutation_p.P514T|RGS12_ENST00000382788.3_Missense_Mutation_p.P1162T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1162						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCTAGGGATCCCCGGCTTTC	0.338000													11	52					3.86212e-05	4.03188e-05	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27720176	27720176	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:27720176G>A	ENST00000261588.4	+	13	1559	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	514										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCGCCCCACGATGTGGATAT	0.557000													10	104					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145812	94145812	+	Silent	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:94145812T>A	ENST00000282020.4	+	7	1269	c.1011T>A	c.(1009-1011)gcT>gcA	p.A337A	GRID2_ENST00000510992.1_Silent_p.A242A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	337					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGCTAATGCTTTTCATAAGA	0.448000													3	40					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100816600	100816600	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:100816600T>C	ENST00000300303.2	-	3	752	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	NAT16_ENST00000455377.1_Missense_Mutation_p.K172E	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	172	N-acetyltransferase.						N-acetyltransferase activity										AGGCGGTATTTCTTCAGCTCC	0.657000													25	59					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201036040	201036040	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201036040C>T	ENST00000362061.3	-	20	2858	c.2632G>A	c.(2632-2634)Gtg>Atg	p.V878M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	878					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGAGGGACACGGCCACCACC	0.607000													7	44					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161645049	161645049	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:161645049C>G	ENST00000367962.4	+	6	890	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	FCGR2B_ENST00000358671.5_Missense_Mutation_p.L255V|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L248V|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L248V|FCGR2B_ENST00000236937.9_Intron			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	255					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCCAGCTCTCCCAGGATA	0.602000			T	?	ALL								3	16					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949130	198949130	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:198949130C>T	ENST00000428675.1	+	2	1287	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTAACCACCCGCGTGACCGA	0.373000													39	159					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111800	64111800	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64111800C>A	ENST00000356786.5	+	14	1831	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	596					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCGTAGATCCTCTCTCCAG	0.642000													16	77					3.52763e-06	3.77961e-06	1	1	0
GRM7	2917	broad.mit.edu	37	3	7188349	7188349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188349G>T	ENST00000486284.1	+	2	1004	c.730G>T	c.(730-732)Gag>Tag	p.E244*	GRM7_ENST00000403881.1_Nonsense_Mutation_p.E244*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.E244*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E244*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E244*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	244					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GATTTCCAAAGAGGCAGGTAG	0.448000													8	38					5.18039e-06	5.52963e-06	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100467	168100467	+	Silent	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:168100467A>G	ENST00000409195.1	+	9	2654	c.2565A>G	c.(2563-2565)gaA>gaG	p.E855E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.E855E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E633E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	680					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						TTCTAAAAGAAGTTCCTGATG	0.363000													53	129					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149171666	149171666	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:149171666G>A	ENST00000340622.3	-	7	2024	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	ZNF746_ENST00000458143.2_Missense_Mutation_p.R583C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	582					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGTGCTTGCGGAGGTGGTCC	0.682000													4	33					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6301914	6301914	+	Splice_Site	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:6301914A>G	ENST00000344683.5	+	8	747	c.670_splice	c.e8-1	p.D224_splice	MCPH1_ENST00000522905.1_Splice_Site_p.D176_splice|MCPH1_ENST00000519480.1_Splice_Site_p.D224_splice	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	224						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGTTTTCCAGATGAATACTTT	0.338000													6	37					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757677	99757677	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:99757677G>A	ENST00000360039.4	-	4	1727	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	GAL3ST4_ENST00000426974.2_Silent_p.P383P|GAL3ST4_ENST00000413800.1_Silent_p.P445P|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	445					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGGTCTTGGGGGCTCAATC	0.557000													21	121					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112192	64112192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64112192C>T	ENST00000356786.5	+	14	2223	c.2179C>T	c.(2179-2181)Cag>Tag	p.Q727*	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	727					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCGCAGAGCAGGAGGCCCT	0.622000													11	48					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766782	172766782	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:172766782G>C	ENST00000351008.3	-	3	898	c.715C>G	c.(715-717)Cta>Gta	p.L239V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	239					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCATCCGTAGATAACAGGTA	0.428000													7	71					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12223508	12223508	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:12223508C>T	ENST00000566228.1	+	13	1557	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	SNX29_ENST00000306030.3_Silent_p.D111D|SNX29_ENST00000323433.4_Silent_p.D111D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	111					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACCTGCTCGACGGTGAGATGG	0.587000													9	17					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341333	240341333	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:240341333C>T	ENST00000319653.9	+	3	2125	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	632					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAAACCTCCCGATGAGGAA	0.483000													11	72					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49097766	49097766	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:49097766C>G	ENST00000380950.2	-	2	268	c.81G>C	c.(79-81)gaG>gaC	p.E27D	CEP152_ENST00000325747.5_Missense_Mutation_p.E27D|CEP152_ENST00000399334.3_Missense_Mutation_p.E27D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	27					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACCTCTTTCTCTCTTTCAT	0.353000													8	29					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624391	5624391	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:5624391C>T	ENST00000310917.2	-	14	2865	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	EVC2_ENST00000344938.1_Missense_Mutation_p.E792K|EVC2_ENST00000344408.5_Missense_Mutation_p.E792K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	792						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTCCCCCTCCAGCTGCTCG	0.652000													9	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498394	179498394	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179498394G>T	ENST00000589042.1	-	232	42916	c.42692C>A	c.(42691-42693)cCc>cAc	p.P14231H	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5358H|TTN_ENST00000342992.6_Missense_Mutation_p.P11663H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5291H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P12590H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5166H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12590	Fibronectin type-III 3.						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)			AGTGAAGTAGGGATCGGCCTC	0.333000													16	22					6.31663e-08	6.87114e-08	1	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	67					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79203022	79203022	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:79203022G>A	ENST00000374769.2	-	13	1509	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Silent_p.P428P					ENTH domain containing 2																		TGGGGTCTCCGGGGGCTGGAA	0.692000													3	14					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101599463	101599463	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599463A>G	ENST00000310954.6	-	4	1110	c.824T>C	c.(823-825)aTc>aCc	p.I275T		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	275					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGGCCTAAGATTGACATAGC	0.368000													22	94					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37612351	37612351	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:37612351G>A	ENST00000252011.3	+	4	310	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	DHX35_ENST00000373325.2_Missense_Mutation_p.E93K|DHX35_ENST00000373323.4_Missense_Mutation_p.E62K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	93	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GTACCTTGCAGAAGCCGGCTG	0.438000													5	33					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804911	22804911	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:22804911G>A	ENST00000361524.3	-	4	3119	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	ZNF521_ENST00000538137.2_Missense_Mutation_p.R991W|ZNF521_ENST00000584787.1_Missense_Mutation_p.R771W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	991					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAAATCCGGCAGTTTCCA	0.478000			T	PAX5	ALL								18	39					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43127444	43127444	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:43127444G>C	ENST00000359467.3	-	4	297	c.183C>G	c.(181-183)atC>atG	p.I61M	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	61	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCAGCCTGAAGATCACCTCTG	0.453000													43	247					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40958810	40958810	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:40958810G>A	ENST00000588408.1	+	5	975	c.699G>A	c.(697-699)gaG>gaA	p.E233E	CNTD1_ENST00000588527.1_Silent_p.E150E|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	233										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAATTGAGAACTCCACTC	0.522000													42	36					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594831	55594831	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:55594831C>T	ENST00000201647.6	+	13	1356	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	EPS8L1_ENST00000245618.5_Missense_Mutation_p.R307C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R370C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R416C|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R88C|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	434						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGAGCCGCGCCTGGGA	0.697000													27	33					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754227	140754227	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:140754227G>C	ENST00000517434.1	+	1	577	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTACCCGGAGCTGGTGCT	0.592000													3	20					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13055883	13055883	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:13055883T>C	ENST00000506447.1	+	19	3374	c.3294T>C	c.(3292-3294)aaT>aaC	p.N1098N	CEP192_ENST00000325971.8_Silent_p.N502N|CEP192_ENST00000430049.2_Silent_p.N623N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	693										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						CATTTCAGAATAGAGGAAAAG	0.383000													9	67					0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27863859	27863859	+	Missense_Mutation	SNP	C	C	G	rs140355712		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:27863859C>G	ENST00000081029.3	+	1	154	c.83C>G	c.(82-84)tCg>tGg	p.S28W	MRPS35_ENST00000538315.1_Missense_Mutation_p.S28W	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	28					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GCCGTCTACTCGGCCACTCCG	0.642000													5	66					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347265	101347265	+	Splice_Site	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:101347265C>T	ENST00000344327.3	-	6	1935	c.1510_splice	c.e6-1	p.G504_splice	TRPC6_ENST00000360497.4_Splice_Site_p.G449_splice|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Splice_Site_p.G388_splice	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	504					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCATATCATGCCTGCATCAGA	0.373000													10	49					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47231984	47231984	+	Silent	SNP	G	G	A	rs138551240	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:47231984G>A	ENST00000391910.3	-	7	1380	c.930C>T	c.(928-930)gaC>gaT	p.D310D	STRN4_ENST00000539396.1_Silent_p.D191D|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000263280.6_Silent_p.D310D			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	310						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCAGAGTCGTCTTCCTCAT	0.587000													18	104					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60849056	60849056	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:60849056C>T	ENST00000261523.5	-	3	379	c.291G>A	c.(289-291)atG>atA	p.M97I	RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000558235.1_RNA	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	97	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCACCATTCATGTATCCAG	0.428000													13	100					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139788209	139788209	+	Splice_Site	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:139788209C>A	ENST00000303045.6	-	16	2249	c.1803_splice	c.e16+1	p.K601_splice	COL22A1_ENST00000435777.1_Splice_Site_p.K601_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	601	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTATAAATACCTTTTCTCCTC	0.478000										HNSCC(7;0.00092)			11	159					5.50884e-06	5.85828e-06	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33200431	33200431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:33200431G>A	ENST00000396033.2	-	13	2011	c.1876C>T	c.(1876-1878)Caa>Taa	p.Q626*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q626*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	626	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GTTTGCCCTTGAAACTTCGGA	0.463000													24	125					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1453317	1453317	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:1453317C>T	ENST00000389221.4	-	3	315	c.316G>A	c.(316-318)Gac>Aac	p.D106N	UNKL_ENST00000397462.1_Missense_Mutation_p.D193N|UNKL_ENST00000508903.2_Missense_Mutation_p.D106N|UNKL_ENST00000301712.5_Missense_Mutation_p.D106N|UNKL_ENST00000503648.1_5'UTR	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	106						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGTTCTGTGTCCCCCGTCGTC	0.602000													7	52					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167313566	167313566	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:167313566C>T	ENST00000409855.1	-	10	1230	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	368					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCATGTAGACCTTCCCAGAAG	0.333000													6	30					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68361919	68361919	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:68361919T>C	ENST00000295121.6	-	7	897	c.781A>G	c.(781-783)Act>Gct	p.T261A	WDR92_ENST00000406245.2_Missense_Mutation_p.T160A|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.T261A	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	261					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TGCCACACAGTAGATTTATGA	0.488000													18	61					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195611811	195611811	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:195611811C>T	ENST00000333602.6	-	4	945	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	TNK2_ENST00000381916.2_Missense_Mutation_p.G173R|TNK2_ENST00000392400.1_Missense_Mutation_p.G110R|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Missense_Mutation_p.G142R|TNK2_ENST00000316664.3_Missense_Mutation_p.G110R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	110	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGCCCCTCCCCTGCTGGGCCC	0.647000													7	103					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70812083	70812083	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:70812083C>A	ENST00000322773.4	+	16	1349	c.1247C>A	c.(1246-1248)cCt>cAt	p.P416H	COL19A1_ENST00000393344.1_Missense_Mutation_p.P38H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	416	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAACAGGACCTCCCGGAAAA	0.383000													12	101					0.00185496	0.00188136	1	1	0
FLG	2312	broad.mit.edu	37	1	152283696	152283696	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:152283696C>T	ENST00000368799.1	-	3	3701	c.3666G>A	c.(3664-3666)aaG>aaA	p.K1222K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	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)			ATTGTTTGTCCTTACGAGTTT	0.567000									Ichthyosis				217	308					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96035912	96035912	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:96035912C>G	ENST00000515059.1	+	5	468	c.185C>G	c.(184-186)tCt>tGt	p.S62C	BMPR1B_ENST00000394931.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S92C|BMPR1B_ENST00000502683.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S62C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	62					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAGGATGACTCTGGGTTGCCT	0.443000													74	225					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651100	121651100	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:121651100G>A	ENST00000393386.2	+	12	2411	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G667E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	667					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCGATGTTGGATCAGGCAGA	0.448000													11	92					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412166	105412166	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:105412166G>T	ENST00000394767.2	-	2	1244	c.794C>A	c.(793-795)gCa>gAa	p.A265E	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.A96E|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	96					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGTGACGGCTGCTGAGGCTGC	0.607000													13	96					7.93312e-07	8.53185e-07	1	1	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749044	89749044	+	RNA	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:89749044T>A	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA																							TCGAAAAGGCTTGGAGCTAAA	0.622000													6	28					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42877787	42877787	+	Silent	SNP	C	C	T	rs138261350		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:42877787C>T	ENST00000025301.2	+	8	5080	c.4905C>T	c.(4903-4905)ctC>ctT	p.L1635L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1635					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTTTCATCTCAGTGTCCCTC	0.433000													15	78					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	96					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578793	44578793	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:44578793G>A	ENST00000289547.4	-	2	1258	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	NPC1L1_ENST00000423141.1_Silent_p.F401F|NPC1L1_ENST00000546276.1_Silent_p.F401F|NPC1L1_ENST00000381160.3_Silent_p.F401F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	401					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAAGGGGCCGAAATGCTGGT	0.592000													4	196					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	93					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130487069	130487069	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:130487069C>G	ENST00000373289.3	+	9	1232	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	384							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGGCCTTTGCCGAGGCGGACT	0.687000													4	18					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80477919	80477919	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477919G>A	ENST00000335255.5	+	1	329	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	52	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA 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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ATGAAGAAGCGCTCGGTGACC	0.741000													37	52					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086875	144086875	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:144086875C>T	ENST00000427704.2	+	6	1269	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	PHACTR2_ENST00000440869.2_Missense_Mutation_p.T391M|PHACTR2_ENST00000367582.3_Missense_Mutation_p.T311M|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T300M|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T368M	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	380							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAAGAGCCGACGAACAGAACC	0.493000													9	92					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089497	113089497	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:113089497C>T	ENST00000409871.1	+	12	3403	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1001L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1001							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTACCCAGATCAAACCCTGGT	0.507000													7	42					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595553	216595553	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:216595553G>A	ENST00000366943.2	-	2	512	c.126C>T	c.(124-126)aaC>aaT	p.N42N	USH2A_ENST00000307340.3_Silent_p.N42N|USH2A_ENST00000366942.3_Silent_p.N42N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	42					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGCTCCCACGTTCTCCAGCC	0.468000										HNSCC(13;0.011)			13	84					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76861953	76861953	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:76861953G>A	ENST00000286733.4	-	1	251	c.150C>T	c.(148-150)ccC>ccT	p.P50P	NAAA_ENST00000507956.1_Silent_p.P50P|NAAA_ENST00000507187.2_Silent_p.P50P|NAAA_ENST00000399497.3_Silent_p.P50P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	50					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GCCGCAGCACGGGCAGCCAGC	0.736000													3	41					0	0	1	0	0
NPC2	10577	broad.mit.edu	37	14	74951163	74951163	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:74951163G>A	ENST00000541064.1	-	3	324	c.318C>T	c.(316-318)acC>acT	p.T106T	NPC2_ENST00000434013.2_Silent_p.T106T|NPC2_ENST00000238633.2_Silent_p.T106T|NPC2_ENST00000557510.1_Silent_p.T106T|NPC2_ENST00000555619.1_Silent_p.T106T			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	106					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GGTAGCTATAGGTCTTGTCTT	0.468000													46	134					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64990072	64990072	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:64990072G>C	ENST00000358738.3	+	2	2241	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	ZBTB1_ENST00000394712.2_Missense_Mutation_p.R617T|ZBTB1_ENST00000554015.1_Missense_Mutation_p.R617T|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAGTTTTTAAGAGAGCGTCAG	0.393000													21	117					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30833559	30833559	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:30833559C>T	ENST00000256079.4	-	5	834	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	166					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTCTCTTCTGCTTTCTTA	0.318000													24	49					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470809	10470809	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:10470809G>C	ENST00000382483.3	-	4	1022	c.799C>G	c.(799-801)Ccg>Gcg	p.P267A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	267					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCCTGGCGGAGACCGCGAA	0.632000													15	112					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92595302	92595302	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:92595302G>A	ENST00000370382.3	+	5	988	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	BTBD8_ENST00000342818.3_Missense_Mutation_p.E241K|BTBD8_ENST00000540648.1_Missense_Mutation_p.E241K			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	241	BTB 2.					nucleus		p.E241K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTGTTGGGCTGAAAGCTCCCA	0.408000													7	87					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965285	48965285	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:48965285C>G	ENST00000391884.1	+	1	780	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L102V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	102						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCTCCTGGCTGCTCTTCGG	0.692000													6	34					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60076839	60076839	+	Splice_Site	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:60076839C>G	ENST00000395090.1	-	2	275		c.e2+1		RTN1_ENST00000557422.1_Intron|RTN1_ENST00000267484.5_Intron|RTN1_ENST00000342503.4_Intron			Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGCTTTATACCTGGTAGAAA	0.458000													4	12					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49713661	49713661	+	Splice_Site	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:49713661C>G	ENST00000252826.5	+	21	3453	c.3328_splice	c.e21+1	p.F1109_splice	TRPM4_ENST00000427978.2_Splice_Site_p.F964_splice|TRPM4_ENST00000355712.5_Splice_Site_p.F755_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1109	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGAGCATTTCCGTAAGAACA	0.622000													9	74					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854889	53854889	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53854889C>T	ENST00000458035.1	+	4	1078	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.H321Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAAGGCAATTCATACTGGAGA	0.413000													6	99					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720163	146720163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:146720163T>A	ENST00000392299.2	+	8	2458	c.1988T>A	c.(1987-1989)tTg>tAg	p.L663*	GRM1_ENST00000355289.4_Nonsense_Mutation_p.L663*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.L663*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.L663*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	663					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGCGCCTCTTGGTTGGCCTC	0.522000													77	241					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65367601	65367601	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:65367601G>A	ENST00000330909.8	-	17	2735	c.2736C>T	c.(2734-2736)gcC>gcT	p.A912A	MAGI1_ENST00000402939.2_Silent_p.A884A|MAGI1_ENST00000483466.1_Silent_p.A912A|MAGI1_ENST00000497477.2_Silent_p.A884A	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	912					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGCCTTGCTTGGCAGCTTGTT	0.488000													24	29					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78585955	78585955	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:78585955G>A	ENST00000396137.4	+	3	1680	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	406					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TTTCCATGGAGAATGATTATC	0.348000													12	64					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566523	41566523	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:41566523A>C	ENST00000263253.7	+	27	5619	c.4400A>C	c.(4399-4401)tAc>tCc	p.Y1467S	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1467					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1467C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGGAATGGTACAAAAAAATG	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				45	29					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59512352	59512352	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:59512352T>C	ENST00000038176.3	-	18	1622	c.1410A>G	c.(1408-1410)ggA>ggG	p.G470G	NSMAF_ENST00000427130.2_Silent_p.G501G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	470	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATCTGTCCTCCTTGTCTCT	0.443000													28	81					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350631	135350631	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:135350631G>A	ENST00000463117.2	+	9	1304	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	CYP2E1_ENST00000252945.3_Silent_p.R344R|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	344					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCAAGGATAGGCAAGAGATGC	0.512000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				12	99					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477199	21477199	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:21477199T>G	ENST00000356929.3	-	4	766	c.569A>C	c.(568-570)cAt>cCt	p.H190P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTCTCCAGTATGAATTATCTC	0.333000													5	41					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53217272	53217272	+	Silent	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53217272A>C	ENST00000543227.1	-	5	460	c.186T>G	c.(184-186)gcT>gcG	p.A62A	ZNF611_ENST00000319783.1_Silent_p.A62A|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Silent_p.A62A|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000602162.1_Intron	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCTCACCCACAGCCTCCAGGT	0.478000													26	228					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152325272	152325272	+	Splice_Site	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:152325272T>C	ENST00000243326.4	+	32	7424		c.e32+2		RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAACATGTGGTAAGTGGTTAT	0.388000													15	71					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138778	32138778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:32138778C>G	ENST00000312561.4	+	4	5303	c.4889C>G	c.(4888-4890)tCa>tGa	p.S1630*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACAGAAAAATCAAACATGCTG	0.368000													9	30					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186274708	186274708	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:186274708G>A	ENST00000504273.1	+	15	2338	c.2044G>A	c.(2044-2046)Gct>Act	p.A682T	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.A682T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	682					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGACGCCTTGGCTGAACCATG	0.418000													28	99					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605189	142605189	+	Nonsense_Mutation	SNP	C	C	A	rs142678625		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:142605189C>A	ENST00000370503.2	-	1	114	c.31G>T	c.(31-33)Gag>Tag	p.E11*		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	11										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCTTCTCCCCATTGGTG	0.443000													62	41					2.69673e-31	3.06203e-31	1	1	0
WIPF2	147179	broad.mit.edu	37	17	38420826	38420826	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38420826G>A	ENST00000323571.4	+	5	638	c.398G>A	c.(397-399)cGt>cAt	p.R133H	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R133H|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.R133H	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	133						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						GCCAGCGGGCGTCCTCAGGAT	0.592000										HNSCC(43;0.11)			124	173					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58265261	58265261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:58265261C>T	ENST00000317178.5	+	3	1026	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TAATAATCATCAGGGAGTTCG	0.423000													10	120					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15137556	15137556	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:15137556C>T	ENST00000253699.3	-	4	685	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ZFYVE20_ENST00000435849.3_Silent_p.Q24Q|ZFYVE20_ENST00000449050.1_Silent_p.Q24Q|ZFYVE20_ENST00000476527.2_Silent_p.Q24Q|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	24					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GATAGAAAGACTGCAGATCCT	0.537000													11	98					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592867	158592867	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158592867C>T	ENST00000368148.3	-	43	6206	c.6026G>A	c.(6025-6027)cGt>cAt	p.R2009H	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006H|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2009					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCGGCATAACGCTCTTCAAT	0.498000													59	399					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456191	30456191	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30456191C>T	ENST00000478753.2	-	1	1311	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SEPHS2_ENST00000542752.1_Silent_p.L229L|SEPHS2_ENST00000500504.2_Silent_p.L286L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	286					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTGATAGGCCAGCTCCACCT	0.483000													11	132					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619126	52619126	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:52619126G>A	ENST00000600228.1	-	4	1552	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTCCAGTATGAATTCTCTGA	0.418000													22	162					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483000													17	130					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1752132	1752132	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1752132G>A	ENST00000381241.3	+	7	935	c.736G>A	c.(736-738)Gca>Aca	p.A246T	ASMT_ENST00000381229.4_Missense_Mutation_p.A218T|RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Intron	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	218					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGACGGCAAAGCAGCA	0.527000													4	171					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754936	167754936	+	Silent	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:167754936G>C	ENST00000239587.5	+	3	1636	c.1548G>C	c.(1546-1548)acG>acC	p.T516T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	516					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGGCACACGCCTCACAAGA	0.577000													17	98					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391643	80391643	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80391643A>T	ENST00000337014.6	+	5	866	c.392A>T	c.(391-393)gAc>gTc	p.D131V	HEXDC_ENST00000577944.1_Missense_Mutation_p.D131V|HEXDC_ENST00000327949.9_Missense_Mutation_p.D131V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	131					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)			GCCATGATTGACCAGGTCCTG	0.662000													34	55					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53385621	53385621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:53385621A>G	ENST00000229416.6	-	3	884	c.401T>C	c.(400-402)aTa>aCa	p.I134T	GCLC_ENST00000514004.1_Missense_Mutation_p.I134T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	134					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTCTTCTAATATAGAAGTAGC	0.443000													40	583					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101802265	101802265	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:101802265C>T	ENST00000370418.3	-	9	1547	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	432					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TGACTCCGTGCCTTCTGCTGG	0.532000													9	70					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													7	92					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72399993	72399993	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:72399993C>T	ENST00000340595.3	+	15	2394	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	SLC4A4_ENST00000264485.5_Missense_Mutation_p.P777L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P777L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P777L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	777						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAGAAAACCCCTGGTGGGTG	0.418000													8	53					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80477932	80477932	+	Silent	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477932C>A	ENST00000335255.5	+	1	342	c.168C>A	c.(166-168)atC>atA	p.I56I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	56	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA 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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CGGTGACCATCGGCCGCAACT	0.741000													6	83					0.0293803	0.0296929	1	1	0
SAMHD1	25939	broad.mit.edu	37	20	35533769	35533769	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:35533769T>C	ENST00000262878.4	-	12	1607	c.1408A>G	c.(1408-1410)Agg>Ggg	p.R470G		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	470					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TAACTCACCCTTTTAATCTTT	0.393000													13	112					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	390521	390521	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:390521G>A	ENST00000432829.2	+	24	3037	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V	DOCK8_ENST00000382331.1_Silent_p.V277V|DOCK8_ENST00000453981.1_Silent_p.V975V|DOCK8_ENST00000469391.1_Silent_p.V875V|DOCK8_ENST00000382329.1_Silent_p.V442V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	975					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGGAATGGTGAGAGAAACAG	0.438000													3	36					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108163425	108163425	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:108163425G>A	ENST00000278616.4	+	30	4901	c.4516G>A	c.(4516-4518)Gtg>Atg	p.V1506M	ATM_ENST00000452508.2_Missense_Mutation_p.V1506M	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1506					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCAGACAGCCGTGACTTACTG	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			16	122					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16177931	16177931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:16177931G>T	ENST00000332432.8	-	2	796	c.597C>A	c.(595-597)tgC>tgA	p.C199*	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	199						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTTTAGCAGGCACAGCTGAT	0.433000													5	59					1.23904e-05	1.30788e-05	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101599462	101599462	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599462G>T	ENST00000310954.6	-	4	1111	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	275					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAGGGCCTAAGATTGACATAG	0.368000													22	95					3.6726e-16	4.10467e-16	1	1	0
VARS	7407	broad.mit.edu	37	6	31747296	31747296	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:31747296G>A	ENST00000375663.3	-	28	3746	c.3306C>T	c.(3304-3306)ccC>ccT	p.P1102P		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1102					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTTCTGCCTCGGGGTCCTTCC	0.682000													5	50					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56748400	56748400	+	Splice_Site	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:56748400T>C	ENST00000314128.4	-	8	657		c.e8-2		STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGCACCTCCTGGGAAAGAGA	0.527000													12	101					0	0	1	0	0
MRPS28	28957	broad.mit.edu	37	8	80942442	80942442	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:80942442G>T	ENST00000276585.4	-	1	64	c.42C>A	c.(40-42)agC>agA	p.S14R	TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Missense_Mutation_p.S14R|MRPS28_ENST00000522987.1_5'UTR	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	14						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GCAGAAAATGGCTCTCGGCAG	0.597000													5	71					1	1	1	1	0
LILRA5	353514	broad.mit.edu	37	19	54823409	54823409	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:54823409G>A	ENST00000301219.3	-	4	253	c.134C>T	c.(133-135)tCc>tTc	p.S45F	LILRA5_ENST00000446712.3_Missense_Mutation_p.S33F|LILRA5_ENST00000346508.3_Missense_Mutation_p.S33F|LILRA5_ENST00000432233.3_Missense_Mutation_p.S45F|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	45					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGCTTTGGAGAGGTTCCC	0.622000													9	96					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:14542642C>T	ENST00000358970.5	-	1	503	c.504G>A	c.(502-504)aaG>aaA	p.K168K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	168										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTTGTCCCTCTTGTTCATGT	0.597000													18	176					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548963	158548963	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158548963T>A	ENST00000368150.1	-	1	726	c.727A>T	c.(727-729)Agg>Tgg	p.R243W		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAAGGGATCCTGAGGACAGTA	0.458000													23	121					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90353891	90353891	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:90353891C>T	ENST00000369393.3	-	102	16739	c.16624G>A	c.(16624-16626)Gta>Ata	p.V5542I	MDN1_ENST00000428876.1_Missense_Mutation_p.V5542I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5542	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATATCGGTACTTTAATGTCC	0.408000													5	134					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	793596	793596	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:793596C>T	ENST00000320230.5	-	5	707	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SLC25A22_ENST00000531214.1_Missense_Mutation_p.V76I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	76						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCGGGGGTGACGAGGGTCAAG	0.637000													4	44					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176675242	176675242	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:176675242G>A	ENST00000439151.2	+	11	4603	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	NSD1_ENST00000354179.4_Missense_Mutation_p.E1251K|NSD1_ENST00000347982.4_Missense_Mutation_p.E1251K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1417K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1520					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAAGGTGTAGAACACGATCC	0.488000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	34					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61296316	61296316	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:61296316G>T	ENST00000217159.1	+	6	1357	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000370507.1_Silent_p.T384T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	384					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AGAACCCCACGTTCATCCTGC	0.627000													48	135					9.52127e-25	1.07255e-24	1	1	0
FAT4	79633	broad.mit.edu	37	4	126239951	126239951	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:126239951G>C	ENST00000394329.3	+	1	2398	c.2385G>C	c.(2383-2385)caG>caC	p.Q795H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	795	Cadherin 8.				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						TATTCAGTCAGGTTGCCTACA	0.448000													16	105					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444857	81444857	+	RNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:81444857C>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGTGGTCCCTCACTGAGCTTC	0.627000													3	10					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113308161	113308161	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:113308161C>A	ENST00000297405.5	-	54	8759	c.8515G>T	c.(8515-8517)Gtt>Ttt	p.V2839F	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2799F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2670F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2769F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2839	Sushi 18.					integral to membrane|plasma membrane		p.V2839F(1)|p.V2799F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATATACAACTGTGTCTCTA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	37					0.000274275	0.000282196	1	1	0
SLC4A9	83697	broad.mit.edu	37	5	139740338	139740338	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:139740338C>A	ENST00000230993.6	+	2	279	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	SLC4A9_ENST00000432095.2_Intron|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Missense_Mutation_p.L82M|SLC4A9_ENST00000506757.2_Intron	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	82						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCATCTCTGCTCCTGGA	0.582000													5	12					1.024e-07	1.10966e-07	1	1	0
LPIN3	64900	broad.mit.edu	37	20	39978973	39978973	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:39978973G>C	ENST00000373257.3	+	7	1129	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	346					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCAAGTCATGGAGCTGGGCCA	0.632000													11	69					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155238539	155238539	+	Silent	SNP	G	G	A	rs139020994		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155238539G>A	ENST00000368361.4	-	4	762	c.447C>T	c.(445-447)ggC>ggT	p.G149G	CLK2_ENST00000355560.4_Silent_p.G147G|CLK2_ENST00000536801.1_Silent_p.G149G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.G148G			P49760	CLK2_HUMAN	CDC-like kinase 2	149						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGATGAGGTGGCCCTCAGCGT	0.612000								Other conserved DNA damage response genes					16	108					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953677	16953677	+	RNA	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:16953677T>G	ENST00000412962.1	-	0	584																											CTTCTCGGCCTGCAGCATGTC	0.647000													16	105					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595444	36595444	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:36595444C>T	ENST00000299440.5	+	2	702	c.590C>T	c.(589-591)cCg>cTg	p.P197L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	197	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTTACTTCCCGAGGAACGTG	0.542000									Familial Hemophagocytic Lymphohistiocytosis				6	55					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210015643	210015643	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:210015643G>A	ENST00000491415.2	+	9	1576	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	507					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACTACCCCTGGACTCACATGG	0.443000													27	41					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103390078	103390078	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:103390078T>G	ENST00000299155.5	+	2	107	c.74T>G	c.(73-75)gTc>gGc	p.V25G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	25					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTCTGGGTCCCCAACACG	0.687000													45	74					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133703554	133703554	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:133703554G>T	ENST00000367895.5	+	3	522	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	EYA4_ENST00000431403.2_Missense_Mutation_p.D20Y|EYA4_ENST00000430974.2_Missense_Mutation_p.D20Y|EYA4_ENST00000355286.6_Missense_Mutation_p.D20Y|EYA4_ENST00000525849.1_Missense_Mutation_p.D20Y|EYA4_ENST00000531901.1_Missense_Mutation_p.D20Y|EYA4_ENST00000355167.3_Missense_Mutation_p.D20Y|EYA4_ENST00000452339.2_Missense_Mutation_p.D20Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	20					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACAGAATCAGATGTTTCACA	0.378000													19	113					0.000132079	0.000137381	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168352811	168352811	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168352811G>A	ENST00000366806.2	+	30	4898	c.4756G>A	c.(4756-4758)Gat>Aat	p.D1586N	MLLT4_ENST00000392112.1_Missense_Mutation_p.D1569N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1593N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1586N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1586N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1586N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1585N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1586	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ggaggaggacgatgatgtgga	0.587000			T	MLL	AL								20	132					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937554	3937554	+	Silent	SNP	G	G	A	rs139607519		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:3937554G>A	ENST00000381638.2	-	40	6463	c.6339C>T	c.(6337-6339)caC>caT	p.H2113H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2113							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGGAAGGACGTGCTCCAGGT	0.478000													13	48					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128383016	128383016	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:128383016T>C	ENST00000389524.4	+	30	4096	c.4043T>C	c.(4042-4044)gTc>gCc	p.V1348A	MYO7B_ENST00000409090.1_Missense_Mutation_p.V201A|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1348A|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1348A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1348	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCAAGGCTGTCCAGGAGCTG	0.682000													3	50					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107759	95107759	+	RNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:95107759C>T	ENST00000469935.1	+	0	364					NR_015340.1																						ATTCTGGCCCCCAGGACAGCA	0.577000													5	8					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180479	38180479	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:38180479G>A	ENST00000417037.2	+	1	511	c.327G>A	c.(325-327)ctG>ctA	p.L109L	MYD88_ENST00000396334.3_Silent_p.L109L|MYD88_ENST00000495303.1_Silent_p.L109L|MYD88_ENST00000424893.1_Silent_p.L109L|MYD88_ENST00000443433.2_Silent_p.L109L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	96	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTACCAAGCTGGGCCGCGACG	0.677000			Mis		ABC-DLBCL								11	51					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38636060	38636060	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38636060C>T	ENST00000254051.6	-	10	1934	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	592	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCTCCACGCTCACTG	0.647000													5	42					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52343897	52343897	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:52343897C>T	ENST00000371068.5	+	8	1444	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	EFHC1_ENST00000538167.1_Silent_p.D428D|EFHC1_ENST00000433625.2_Silent_p.D356D	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	447	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TAGCTACCGACATGATCAGTA	0.433000													25	155					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116857599	116857599	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:116857599G>A	ENST00000374118.3	-	7	732	c.495C>T	c.(493-495)tcC>tcT	p.S165S	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	298	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCAGCAGCAGGGAGATGCAGT	0.617000													8	42					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841732	70841732	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841732G>T	ENST00000393567.2	-	86	15267	c.15117C>A	c.(15115-15117)atC>atA	p.I5039I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5039										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAGGGGATGATTATGCTGT	0.547000													24	77					5.35356e-11	5.84584e-11	1	1	0
NALCN	259232	broad.mit.edu	37	13	101735483	101735483	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:101735483G>A	ENST00000251127.6	-	32	3731	c.3650C>T	c.(3649-3651)gCa>gTa	p.A1217V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1217						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGAGTAATGCGATTGTCCT	0.423000													5	55					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99314080	99314080	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:99314080G>A	ENST00000375241.1	-	5	946	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CDC14B_ENST00000463569.1_Silent_p.F165F|CDC14B_ENST00000265659.2_Silent_p.F165F|CDC14B_ENST00000375236.1_Silent_p.F165F|CDC14B_ENST00000375242.3_Silent_p.F128F|CDC14B_ENST00000375240.3_Silent_p.F165F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	165	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATATTTACCTGAAAGGAATAT	0.323000													4	34					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													5	89					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32235084	32235084	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:32235084C>G	ENST00000357033.4	-	44	6593	c.6387G>C	c.(6385-6387)aaG>aaC	p.K2129N	DMD_ENST00000378677.2_Missense_Mutation_p.K2125N	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	2129					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)				GAATTTGTGTCTTTCTGAGAA	0.348000													5	6					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	109					0.217242	0.218007	1	1	0
STON1	11037	broad.mit.edu	37	2	48809492	48809492	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:48809492G>A	ENST00000309835.3	+	1	1730	c.1720G>A	c.(1720-1722)Gtc>Atc	p.V574I	STON1_ENST00000406226.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V574I|STON1_ENST00000404752.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V574I					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTTTCCTGTCCCATCGCA	0.498000													21	105					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137882255	137882255	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:137882255C>T	ENST00000260803.4	-	7	1030	c.877G>A	c.(877-879)Gat>Aat	p.D293N	DBR1_ENST00000505015.2_Missense_Mutation_p.D59N	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	293						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATAAGATCATCCGTAGCCCTG	0.408000													9	49					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7626323	7626323	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7626323G>C	ENST00000338316.4	+	4	703	c.614G>C	c.(613-615)gGa>gCa	p.G205A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	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			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						AACCTGGCGGGAGCCTACCAT	0.443000													45	159					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111846846	111846846	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:111846846G>T	ENST00000421043.1	+	1	95	c.75G>T	c.(73-75)ggG>ggT	p.G25G	ZNF277_ENST00000361822.3_Silent_p.G25G|ZNF277_ENST00000450657.1_Silent_p.G25G			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	25						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACAGTCGGGGGTGTAGGTT	0.607000													7	85					0.0477658	0.0481033	1	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	9	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134885840	134885840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:134885840delC	ENST00000398015.3	+	9	2121	c.1751delC	c.(1750-1752)aafs	p.T584fs	EPHB1_ENST00000493838.1_Frame_Shift_Del_p.T145fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	584						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTACAGCACAGGCCGAGGT	0.547													45	571	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	687	---	---	---	---					
MLLT4	4301	broad.mit.edu	37	6	168366514	168366514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168366514delG	ENST00000366806.2	+	32	5167	c.5025delG	c.(5023-5025)ttfs	p.L1676fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.L1686fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.L1659fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.L1683fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.L1676fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1676					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGCGCAGGTTGCTGGAGCCCG	0.731			T	MLL	AL								2	4	---	---	---	---					
NT5C3A	51251	broad.mit.edu	37	7	33059332	33059333	+	Frame_Shift_Ins	INS	-	-	A	rs143874512		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:33059332_33059333insA	ENST00000396152.2	-	7	644_645	c.342_343insT	c.(340-345)tactaafs	p.*115fs	NT5C3A_ENST00000409467.1_Frame_Shift_Ins_p.*103fs|NT5C3A_ENST00000405342.1_Frame_Shift_Ins_p.*115fs|NT5C3A_ENST00000242210.7_Frame_Shift_Ins_p.*154fs|NT5C3A_ENST00000409787.1_Frame_Shift_Ins_p.*115fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Frame_Shift_Ins_p.*103fs	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		TGTGATTTAGTATACCTGGAGT	0.312													21	34	---	---	---	---					
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													8	637	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													8	1185	---	---	---	---					
KIAA1279	26128	broad.mit.edu	37	10	70770669	70770673	+	Frame_Shift_Del	DEL	AGGAG	AGGAG	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:70770669_70770673delAGGAG	ENST00000361983.4	+	6	990_994	c.888_892delAGGAG	c.(886-894)gaaafs	p.EGE296fs	KIAA1279_ENST00000481912.1_3'UTR	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	296					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGAAGCTGAAGGAGAAGTGCCAGA	0.376													13	67	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													9	369	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91565451	91565451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:91565451delG	ENST00000333371.3	-	1	382	c.29delC	c.(28-30)ctfs	p.P10fs	VPS33B_ENST00000535906.1_Frame_Shift_Del_p.P10fs|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	10					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGCAGCTCAGGGGCGTCCGG	0.632													2	4	---	---	---	---					
EXOC3L1	283849	broad.mit.edu	37	16	67219368	67219385	+	In_Frame_Del	DEL	CCAGCTGCAGGACAGACA	CCAGCTGCAGGACAGACA	-	rs141493416	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:67219368_67219385delCCAGCTGCAGGACAGACA	ENST00000314586.6	-	10	1745_1762	c.1505_1522delTGTCTGTCCTGCAGCTGG	c.(1504-1524)gac>g	p.VSVLQLD502del		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	502					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGCGCCCCGTCCAGCTGCAGGACAGACACTGAGGAGCT	0.651											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	176	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579419	7579420	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:7579419_7579420insGG	ENST00000420246.2	-	4	399_400	c.267_268insCC	c.(265-270)cccctgfs	p.L90fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L90fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.A88fs*52(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		AGGGGCCAGGAGGGGGCTGGTG	0.629		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)			47	66	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													8	142	---	---	---	---					
LSM14A	26065	broad.mit.edu	37	19	34710734	34710735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:34710734_34710735insT	ENST00000544216.3	+	8	1165_1166	c.1088_1089insT	c.(1087-1089)tgafs	p.*363fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.*322fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.*363fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	363					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATTGCTATTATGACAAAACTA	0.332													8	43	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													14	239	---	---	---	---					
MAPK12	6300	broad.mit.edu	37	22	50699899	50699899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:50699899delG	ENST00000215659.8	-	1	355	c.40delC	c.(40-42)agfs	p.Q14fs	MAPK12_ENST00000395778.3_Frame_Shift_Del_p.Q14fs	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	14					cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		GTCACCTCCTGGCGGTAAAAG	0.766													2	4	---	---	---	---					
