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
CD97	976	broad.mit.edu	37	19	14517156	14517156	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:14517156G>T	uc002myl.3	+	14	2215	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	CD97_uc002mym.3_Missense_Mutation_p.C563F|CD97_uc002myn.3_Missense_Mutation_p.C519F	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	612					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGCTGCGCTGCCGCCTGGTG	0.706000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	9					1.05317e-09	1.11549e-09	1	1	0
NAT9	26151	broad.mit.edu	37	17	72768142	72768142	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:72768142T>G	uc002jlq.3	-	5	520	c.446A>C	c.(445-447)aAt>aCt	p.N149T	NAT9_uc002jlr.3_Missense_Mutation_p.N148T	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA.	149	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCTTGGTTCATTTCCTTGCCC	0.567000													48	62					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623068	61623068	+	Silent	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:61623068A>G	uc002jay.3	+	13	2870	c.2790A>G	c.(2788-2790)gcA>gcG	p.A930A	KCNH6_uc010wpl.2_Silent_p.A771A|KCNH6_uc010wpm.2_Silent_p.A894A|KCNH6_uc002jaz.1_Silent_p.A841A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	930					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAACTCTGGCACCATCCTCAG	0.567000													40	56					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49114033	49114033	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:49114033G>A	uc002pjn.2	-	1	602	c.537C>T	c.(535-537)cgC>cgT	p.R179R		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	179								p.T178M(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTACCCAGCGGCGCGTGGCAG	0.652000													5	121					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43771711	43771711	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:43771711T>C	uc001zrs.3	-	6	805	c.657A>G	c.(655-657)gaA>gaG	p.E219E	TP53BP1_uc010udp.2_Silent_p.E219E|TP53BP1_uc001zrq.4_Silent_p.E224E|TP53BP1_uc001zrr.4_Silent_p.E224E|TP53BP1_uc010udq.1_Silent_p.E224E	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	219					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGACTGTTCTTCATGCTTAA	0.378000								Other conserved DNA damage response genes					79	140					0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000													4	41					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106799967	106799967	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:106799967T>A	uc003vdx.3	+	10	1372	c.1197T>A	c.(1195-1197)taT>taA	p.Y399*		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	399					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TCGCTACCTATGAAGAACAGT	0.388000													35	54					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21930227	21930227	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:21930227G>T	uc001bev.3	-	15	1625	c.1607C>A	c.(1606-1608)cCc>cAc	p.P536H	RAP1GAP_uc001bew.3_Intron|RAP1GAP_uc001bey.3_Intron|RAP1GAP_uc001bex.3_Intron	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	452					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTGTCCCGGGGGCAGAGGGGC	0.701000													2	1					0.0784	0.0784	1	1	0
CARD14	79092	broad.mit.edu	37	17	78166392	78166392	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:78166392G>A	uc002jxw.1	+	8	1524	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.D444N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.D207N|CARD14_uc010dhu.1_Missense_Mutation_p.D242N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	444					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGACGACAGCGACTGCAGCCT	0.662000													37	127					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657726	41657726	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:41657726A>G	uc001zns.4	+	6	1051	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	NUSAP1_uc001znr.4_Missense_Mutation_p.T262A|NUSAP1_uc001znt.4_Missense_Mutation_p.T248A|NUSAP1_uc001znv.4_Missense_Mutation_p.T261A|NUSAP1_uc010ucw.2_Missense_Mutation_p.T239A|NUSAP1_uc010bce.3_Missense_Mutation_p.T263A|NUSAP1_uc001znu.4_Missense_Mutation_p.T262A|NUSAP1_uc001znw.4_Missense_Mutation_p.T67A	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	263	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AAGTCAGAGTACCTTGGGTCT	0.512000													25	36					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275565	238275565	+	Silent	SNP	C	C	T	rs140699766		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:238275565C>T	uc002vwl.2	-	10	5550	c.5265G>A	c.(5263-5265)tcG>tcA	p.S1755S	COL6A3_uc002vwo.2_Silent_p.S1549S|COL6A3_uc010znj.1_Silent_p.S1148S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1755	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.S1755S(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCTTCCACCGACTTTCCTC	0.582000													9	218					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915851	26915851	+	Missense_Mutation	SNP	C	C	T	rs150604531		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:26915851C>T	uc003jgs.1	-	2	579	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	CDH9_uc010iug.3_Missense_Mutation_p.R137Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	137	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R137W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCACCTGCCGCCCAGTTTT	0.383000													29	60					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35733937	35733937	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:35733937C>T	uc003tes.4	-	1	663	c.4G>A	c.(4-6)Gac>Aac	p.D2N	HERPUD2_uc003tet.3_Missense_Mutation_p.D2N|DQ594967_uc003teu.3_5'Flank	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	2					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CCACTTTGGTCCATGGTGCCC	0.537000													51	87					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549484	23549484	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:23549484C>G	uc001wit.4	-	5	1562	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	ACIN1_uc001wis.4_Missense_Mutation_p.E94Q|ACIN1_uc010akg.3_Missense_Mutation_p.E412Q|ACIN1_uc010tnj.2_Missense_Mutation_p.E372Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	412	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGTCTCCTCCTCGCTGGCA	0.517000													78	95					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32873421	32873421	+	Silent	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:32873421T>A	uc002nte.3	+	5	2681	c.2409T>A	c.(2407-2409)tcT>tcA	p.S803S	ZNF507_uc002ntd.3_Silent_p.S803S	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTTTGAAGTCTCATATGTGGA	0.438000													83	70					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166153545	166153545	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:166153545A>T	uc002udc.3	+	2	576	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	SCN2A_uc002udd.3_Nonsense_Mutation_p.K96*|SCN2A_uc002ude.3_Nonsense_Mutation_p.K96*	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	96					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)	AGTATTGAATAAAGGGAAAGC	0.289000													77	69					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95840715	95840715	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:95840715C>A	uc001vmd.4	-	9	1464	c.1345G>T	c.(1345-1347)Gca>Tca	p.A449S	ABCC4_uc010afk.3_Missense_Mutation_p.A449S|ABCC4_uc001vme.2_Missense_Mutation_p.A449S|ABCC4_uc010tih.1_Missense_Mutation_p.A374S|ABCC4_uc001vmf.2_Missense_Mutation_p.A406S|ABCC4_uc010afl.1_Missense_Mutation_p.A406S|ABCC4_uc010afm.1_Missense_Mutation_p.A462S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	449	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCTTCCCTGCTCCCACGGGG	0.468000													14	67					1.90627e-21	2.18732e-21	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48686573	48686573	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:48686573A>G	uc003cuf.1	-	18	6758	c.6758T>C	c.(6757-6759)tTt>tCt	p.F2253S	CELSR3_uc010hkg.3_Missense_Mutation_p.F166S|CELSR3_uc003cul.3_Missense_Mutation_p.F2183S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2183					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGCTCTCGAAAGGCAGGGGA	0.612000													3	70					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170055306	170055306	+	Silent	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:170055306A>G	uc002ues.3	-	44	8781	c.8568T>C	c.(8566-8568)ccT>ccC	p.P2856P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2856	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCAATAAGTAGGGTTTTCAT	0.383000													36	73					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64610587	64610587	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:64610587A>G	uc001xgl.3	+	82	15634	c.15404A>G	c.(15403-15405)tAt>tGt	p.Y5135C	SYNE2_uc001xgm.3_Missense_Mutation_p.Y5135C|SYNE2_uc010apy.3_Missense_Mutation_p.Y1520C|SYNE2_uc001xgn.3_Missense_Mutation_p.Y97C|SYNE2_uc021rui.1_Missense_Mutation_p.Y97C|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5135					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAAGCGCTATGAAAGAACG	0.458000													70	64					0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142691578	142691578	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:142691578C>T	uc010khe.3	+	3	1128	c.717C>T	c.(715-717)gtC>gtT	p.V239V	GPR126_uc010khc.3_Silent_p.V239V|GPR126_uc010khd.3_Silent_p.V239V|GPR126_uc010khf.3_Silent_p.V239V|GPR126_uc003qix.2_Silent_p.V239V	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	239	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CATTACCTGTCAAAGAAAAAG	0.353000													7	26					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12611673	12611673	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:12611673G>A	uc003bxd.3	+	2	315	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	MKRN2_uc011aus.2_Missense_Mutation_p.V44I	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	87						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TCCTTCCGAGGTCACTGCATC	0.547000													60	5					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16685914	16685914	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:16685914A>C	uc003jft.4	-	28	4391	c.3923T>G	c.(3922-3924)gTc>gGc	p.V1308G	MYO10_uc011cnc.2_Missense_Mutation_p.V187G|MYO10_uc011cnd.2_Missense_Mutation_p.V665G|MYO10_uc011cne.2_Missense_Mutation_p.V665G|MYO10_uc010itx.3_Missense_Mutation_p.V931G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1308	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGACGCGTGGACCTGACTCAG	0.592000													18	24					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460842	179460842	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:179460842A>C	uc001gmo.3	+	18	2648	c.2261A>C	c.(2260-2262)aAg>aCg	p.K754T	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.K712T|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	754										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTGACAAGGAAGTTGTACCAA	0.423000													40	183					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128194	20128194	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:20128194A>T	uc002zrr.2	+	5	822	c.715A>T	c.(715-717)Aat>Tat	p.N239Y	ZDHHC8_uc002zrq.3_Missense_Mutation_p.N239Y|ZDHHC8_uc010gsa.3_Missense_Mutation_p.N45Y	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	239						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CTGCTGTGGGAATGTGGAGCA	0.697000													12	12					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1902856	1902856	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:1902856A>G	uc021qsx.1	-	37	3610	c.3379T>C	c.(3379-3381)Tgt>Cgt	p.C1127R		NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	1127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCCAGGCACACACAGGCAGC	0.642000													31	72					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156707893	156707893	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:156707893G>A	uc001fpw.1	-	3	452	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	MRPL24_uc001fpx.1_Missense_Mutation_p.R105W	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	105					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTTCCCCGGTAATCCATG	0.572000													52	215					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49458324	49458324	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:49458324C>T	uc002xvq.3	+	3	440	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	BCAS4_uc002xvr.3_Missense_Mutation_p.H126Y|BCAS4_uc002xvs.3_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	126						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GATGGTTGGACACCACGTCGC	0.657000													84	107					0	0	1	0	0
C11orf93	120376	broad.mit.edu	37	11	111179020	111179020	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:111179020C>G	uc010rwf.1	+	4	1081	c.323C>G	c.(322-324)tCg>tGg	p.S108W		NM_001136105	NP_001129577	A8K830	CK093_HUMAN	Homo sapiens chromosome 11 open reading frame 93 (C11orf93), mRNA.	108										NS(1)|kidney(1)|skin(1)	3						TACTGCGCATCGTGTGAGGCA	0.587000													4	47					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26938587	26938587	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:26938587A>G	uc010crq.2	-	8	841	c.809T>C	c.(808-810)aTg>aCg	p.M270T	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Missense_Mutation_p.M270T	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	0					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTCTCACCCATGTACTGAAG	0.502000													26	56					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45855040	45855040	+	Missense_Mutation	SNP	G	G	A	rs145602698	byFrequency	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr21:45855040G>A	uc010gpt.1	+	28	4251	c.4151G>A	c.(4150-4152)cGt>cAt	p.R1384H	TRPM2_uc002zet.1_Missense_Mutation_p.R1334H|TRPM2_uc002zeu.1_Missense_Mutation_p.R1334H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R1334H|TRPM2_uc002zex.1_Missense_Mutation_p.R1120H|TRPM2_uc002zey.1_Missense_Mutation_p.R813H|TRPM2_uc011aff.1_Missense_Mutation_p.R15H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1334	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACAGGACTGCGTGGGCGCGGG	0.662000													3	60					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99449739	99449739	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:99449739T>C	uc001vnt.2	-	52	6015	c.5960A>G	c.(5959-5961)aAt>aGt	p.N1987S	DOCK9_uc001vnw.2_Missense_Mutation_p.N1986S|DOCK9_uc021rlw.1_Missense_Mutation_p.N1988S|DOCK9_uc001vnq.2_Missense_Mutation_p.N536S|DOCK9_uc001vnr.2_Missense_Mutation_p.N618S|DOCK9_uc010tin.1_Missense_Mutation_p.N607S|DOCK9_uc001vns.2_Missense_Mutation_p.N524S|DOCK9_uc010tio.1_Missense_Mutation_p.N644S|DOCK9_uc010tip.1_Missense_Mutation_p.N685S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1989	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGGCCAGCATTGACCTAGAC	0.428000													16	76					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197784853	197784853	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:197784853G>T	uc002utw.3	-	1	283	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.L57M|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	57					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CGTTTTGCCAGTTTCTTTGGA	0.343000													19	24					4.7796e-09	5.00321e-09	1	1	0
IFI30	10437	broad.mit.edu	37	19	18288015	18288015	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:18288015C>T	uc002nic.1	+	4	622	c.549C>T	c.(547-549)cgC>cgT	p.R183R	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	183					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						TGGGGGACCGCGGCATGCAGC	0.617000													28	104					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688462	151688462	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:151688462C>T	uc001eys.2	-	0	829	c.35G>A	c.(34-36)gGg>gAg	p.G12E	CELF3_uc021oyt.1_5'UTR|CELF3_uc009wmy.3_Missense_Mutation_p.G12E|CELF3_uc001eyr.3_Missense_Mutation_p.G12E|CELF3_uc009wmx.2_Missense_Mutation_p.G12E|CELF3_uc001eyt.2_Intron|CELF3_uc010pdi.1_Missense_Mutation_p.G12E|RIIAD1_uc001eyu.2_Intron	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	12	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGGGATCTGCCCCACAAACAG	0.607000													74	39					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781667	76781667	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:76781667G>C	uc001jwn.1	+	15	3543	c.3050G>C	c.(3049-3051)tGc>tCc	p.C1017S	KAT6B_uc001jwm.1_Missense_Mutation_p.C725S|KAT6B_uc001jwo.1_Missense_Mutation_p.C725S|KAT6B_uc001jwp.1_Missense_Mutation_p.C834S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1017					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAAGCTAGCTGCTGGGAGAAG	0.483000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	39					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118509935	118509935	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:118509935G>A	uc001ptr.2	+	12	3055	c.2702G>A	c.(2701-2703)aGg>aAg	p.R901K	PHLDB1_uc001pts.3_Missense_Mutation_p.R901K|PHLDB1_uc001ptt.3_Missense_Mutation_p.R901K|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.R701K|PHLDB1_uc001ptw.2_Missense_Mutation_p.R303K|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	901										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGGGGGCAGGCCTTTCCCG	0.562000													52	13					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402313	90402313	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:90402313G>C	uc003pnn.1	-	62	10552	c.10436C>G	c.(10435-10437)tCa>tGa	p.S3479*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3479					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)		CTTTCCTCCTGAGCGCTTGAG	0.567000													36	130					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49690229	49690229	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:49690229C>T	uc001rtu.3	+	2	696	c.621C>T	c.(619-621)gcC>gcT	p.A207A		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	207	Coil 1B.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TGGACGATGCCACTCTGTCCC	0.567000													6	103					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912283	32912283	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:32912283A>G	uc001uub.1	+	10	4018	c.3791A>G	c.(3790-3792)aAa>aGa	p.K1264R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1264					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTTCAAGTAAATGTCATGAT	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	8					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75187422	75187422	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:75187422C>A	uc009xrh.3	-	3	468	c.395G>T	c.(394-396)aGa>aTa	p.R132I	MSS51_uc001juc.3_Missense_Mutation_p.R109I|MSS51_uc001jud.3_Missense_Mutation_p.R109I|MSS51_uc009xrg.3_Nonsense_Mutation_p.E32*	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	109							zinc ion binding										AGGGAGTGCTCTACAGTGAGC	0.488000													30	27					1.07121e-22	1.24511e-22	1	1	0
CATSPER2	117155	broad.mit.edu	37	15	43940128	43940128	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:43940128G>A	uc001zsh.3	-	1	347	c.132C>T	c.(130-132)atC>atT	p.I44I	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.I44I|CATSPER2_uc001zsj.3_Silent_p.I44I|CATSPER2_uc001zsk.3_Silent_p.I44I|CATSPER2_uc001zsl.1_Intron	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453000													151	210					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24744126	24744126	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:24744126T>A	uc004dbl.3	+	12	1343	c.1328T>A	c.(1327-1329)aTa>aAa	p.I443K	POLA1_uc004dbm.3_Missense_Mutation_p.I449K	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	443					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GCTTTTGAGATACCTGATGTT	0.328000													19	7					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296149	28296149	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:28296149A>T	uc002het.3	+	3	723	c.531A>T	c.(529-531)aaA>aaT	p.K177N	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.2_Missense_Mutation_p.K121N|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.K56N|EFCAB5_uc010csf.3_Missense_Mutation_p.K56N	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	177							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCTTGACAAACTTCTACCCA	0.373000													36	38					0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294760	103294760	+	Nonsense_Mutation	SNP	C	C	T	rs2301384	by1000genomes	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:103294760C>T	uc004els.2	+	0	245	c.217C>T	c.(217-219)Cag>Tag	p.Q73*		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						GCAGGTTCACCAGGGCCTCAG	0.632000													3	56					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376815	200376815	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:200376815T>C	uc001gve.3	-	1	2126	c.2019A>G	c.(2017-2019)caA>caG	p.Q673Q	ZNF281_uc001gvf.1_Silent_p.Q673Q|ZNF281_uc001gvg.1_Silent_p.Q637Q|ZNF281_uc021phb.1_Silent_p.Q673Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	673					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CAAAAGCCTGTTGGAGGTATT	0.398000													11	47					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258337	16258337	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:16258337T>G	uc001axk.1	+	10	5806	c.5602T>G	c.(5602-5604)Ttg>Gtg	p.L1868V	SPEN_uc010obp.1_Missense_Mutation_p.L1827V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1868					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTTTTGGAATTGAAGATGGA	0.498000													36	15					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681013	30681013	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:30681013C>A	uc003nrg.4	-	4	1146	c.706G>T	c.(706-708)Gct>Tct	p.A236S	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.A108S|MDC1_uc003nrh.1_Missense_Mutation_p.A108S|MDC1_uc003nri.2_Missense_Mutation_p.A236S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	236	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCTGGCAGCTGAGGAGGCC	0.537000								Other conserved DNA damage response genes					5	93					8.12818e-05	8.26673e-05	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1059069	1059069	+	Silent	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:1059069G>T	uc002lqw.4	+	39	5679	c.5448G>T	c.(5446-5448)ggG>ggT	p.G1816G	ABCA7_uc002lqy.3_Silent_p.G269G|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1816	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCTGGGGATTCCCCCTG	0.617000													22	66					9.04412e-07	9.30401e-07	1	1	0
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:12502558C>T	uc010dyt.3	-	3	858	c.654G>A	c.(652-654)acG>acA	p.T218T	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403000													30	48					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37834925	37834925	+	Splice_Site	SNP	C	C	A	rs13169425		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:37834925C>A	uc011cpi.2	-	2	175	c.-25_splice	c.e2-1		GDNF_uc011cpd.2_Splice_Site|GDNF_uc011cpe.2_5'UTR|GDNF_uc011cpf.2_Splice_Site|GDNF_uc011cpg.2_Splice_Site_p.G9_splice|GDNF_uc011cph.2_Splice_Site_p.G9_splice	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.						adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCGGCGGCACCTGCGCGGGCA	0.692000													11	16					2.5808e-16	2.86933e-16	1	1	0
CCDC121	79635	broad.mit.edu	37	2	27850548	27850548	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:27850548A>G	uc002rld.3	-	1	720	c.605T>C	c.(604-606)cTg>cCg	p.L202P	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Missense_Mutation_p.L40P|CCDC121_uc021vfe.1_Missense_Mutation_p.L40P|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	40										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CAGGTATTCCAGAAAGAATCT	0.418000													34	81					0	0	1	0	0
LOC285033	285033	broad.mit.edu	37	2	96906416	96906416	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:96906416C>A	uc002svp.1	+	0	966	c.355C>A	c.(355-357)Ccc>Acc	p.P119T	LOC285033_uc002svn.2_Non-coding_Transcript	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	Homo sapiens uncharacterized LOC285033 (LOC285033), mRNA.	119																	TTCCTTCCTTCCCTGCAGTTG	0.552000													11	22					1.36491e-13	1.48072e-13	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378439	31378439	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:31378439T>A	uc003tch.3	-	1	797	c.444A>T	c.(442-444)gaA>gaT	p.E148D	NEUROD6_uc022abi.1_Missense_Mutation_p.E148D	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	148					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTCAGAATTTCAGAAAGTG	0.438000													30	43					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726729	39726729	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:39726729G>C	uc001rly.3	-	18	3088	c.2668C>G	c.(2668-2670)Cag>Gag	p.Q890E	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.Q207E|KIF21A_uc001rlx.3_Missense_Mutation_p.Q877E|KIF21A_uc001rlz.3_Missense_Mutation_p.Q854E|KIF21A_uc010skl.2_Missense_Mutation_p.Q877E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	890					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTAAGGCCTGGACTCTCGCC	0.478000													55	81					0	0	1	0	0
FAM182A	284800	broad.mit.edu	37	20	26061816	26061816	+	RNA	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:26061816C>A	uc010gdq.3	+	3		c.877C>A								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.											breast(1)|endometrium(2)|kidney(1)	4						TTGATTTCTCCTGCTTAGAAA	0.468000													20	97					1.96292e-10	2.09145e-10	1	1	0
SLC25A53	401612	broad.mit.edu	37	X	103349337	103349337	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:103349337C>T	uc022cbz.1	-	0	604	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	SLC25A53_uc004elu.3_Missense_Mutation_p.G202S	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	202					transport	integral to membrane|mitochondrial inner membrane											TCTGCCAGGCCATCCTGGATG	0.552000													9	66					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595249	140595249	+	Silent	SNP	T	T	C	rs144959109	byFrequency	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:140595249T>C	uc003lja.1	+	0	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S518S(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692000													3	51					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48311386	48311386	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr16:48311386T>G	uc002efi.1	+	7	1468	c.1379T>G	c.(1378-1380)cTt>cGt	p.L460R	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.L416R	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	460					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGCTCTGCTTGAGGTAAGA	0.438000													51	103					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75533456	75533456	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:75533456C>T	uc001jva.3	+	1	1260	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.A406V	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	406					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.H405L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AAAGCCCACGCGGCCTCTCCC	0.597000													42	39					0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432461	72432461	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:72432461A>T	uc021spq.1	+	1	830	c.497A>T	c.(496-498)tAc>tTc	p.Y166F	SENP8_uc021spr.1_Missense_Mutation_p.Y166F|SENP8_uc021sps.1_Missense_Mutation_p.Y166F|SENP8_uc021spt.1_Missense_Mutation_p.Y166F|SENP8_uc002atp.3_Missense_Mutation_p.Y166F|SENP8_uc021spu.1_Missense_Mutation_p.Y166F	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	166	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGTGGGATGTACGTGATATGT	0.478000													9	21					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557359	40557359	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:40557359T>A	uc002hzo.3	-	1	742	c.519A>T	c.(517-519)aaA>aaT	p.K173N	PTRF_uc010wgi.2_Missense_Mutation_p.K155N	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	173					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCCGACTCTTTCAGCGATT	0.652000													3	12					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37002072	37002072	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:37002072T>A	uc001zje.4	+	9	876	c.626T>A	c.(625-627)aTa>aAa	p.I209K	C15orf41_uc010bbb.1_Missense_Mutation_p.I111K|C15orf41_uc001zjf.3_Missense_Mutation_p.I111K|C15orf41_uc010uci.2_Missense_Mutation_p.I111K	NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	209							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GAAGGGCACATAATTCACTGG	0.453000													39	50					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160445676	160445676	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:160445676T>C	uc003qta.3	+	4	734	c.586T>C	c.(586-588)Tac>Cac	p.Y196H		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	196					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.Y196C(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGTGGTGCCTACTTGGTGGA	0.473000													38	101					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64924942	64924942	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:64924942T>C	uc001xhb.3	+	26	3116	c.2729T>C	c.(2728-2730)aTg>aCg	p.M910T	MTHFD1_uc010aqf.3_Intron|ZBTB25_uc001xhc.3_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	910	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATGAGCACAATGCCTGGACTC	0.448000													18	23					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29420473	29420473	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:29420473C>A	uc002rmy.3	-	26	4960	c.4008G>T	c.(4006-4008)caG>caT	p.Q1336H	ALK_uc010ymo.2_Missense_Mutation_p.Q268H	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1336	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCAGAACTTCCTGGTTGCTTT	0.507000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	34					5.8336e-16	6.44577e-16	1	1	0
WFDC8	90199	broad.mit.edu	37	20	44181865	44181865	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:44181865G>T	uc002xow.3	-	4	575	c.496C>A	c.(496-498)Cca>Aca	p.P166T	WFDC8_uc002xox.3_Missense_Mutation_p.P166T	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	166	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATGAAGGTGGACACTCCTTA	0.488000													43	60					1.61004e-24	1.90859e-24	1	1	0
SPACA1	81833	broad.mit.edu	37	6	88775941	88775941	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:88775941C>A	uc003pmn.3	+	6	890	c.773C>A	c.(772-774)cCt>cAt	p.P258H		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	258						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GCCTCTACACCTGAGGTACAA	0.413000													11	17					1.41608e-15	1.55508e-15	1	1	0
KCNAB2	8514	broad.mit.edu	37	1	6142274	6142274	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:6142274C>A	uc009vlv.2	+	5	764	c.221C>A	c.(220-222)aCc>aAc	p.T74N	KCNAB2_uc001alv.2_Missense_Mutation_p.T74N|KCNAB2_uc001alw.2_Missense_Mutation_p.T60N|KCNAB2_uc001alx.2_Missense_Mutation_p.T74N|KCNAB2_uc001aly.2_Missense_Mutation_p.T107N|KCNAB2_uc009vlw.2_Missense_Mutation_p.T7N|KCNAB2_uc001alu.3_Missense_Mutation_p.T74N	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	74						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTCATGACCTTGGCCTAT	0.562000													22	36					7.41945e-09	7.72141e-09	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45016957	45016957	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:45016957C>T	uc010ejn.1	-	8	1498	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	CEACAM20_uc010ejo.1_Silent_p.P494P|CEACAM20_uc010ejp.1_Silent_p.P401P|CEACAM20_uc010ejq.1_Silent_p.P401P	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	494						integral to membrane		p.P493Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTCCTCCTTCGGGATGGGTT	0.592000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	140					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107073432	107073432	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:107073432G>A	uc010ywi.1	-	3	457	c.400C>T	c.(400-402)Cta>Tta	p.L134L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	134					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTACCTTTAGTTTATAAATT	0.333000													68	125					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382447	56382447	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:56382447G>A	uc002ivx.4	-	29	6390	c.5519C>T	c.(5518-5520)cCc>cTc	p.P1840L	BZRAP1_uc002ivv.3_Missense_Mutation_p.P70L|BZRAP1_uc002ivw.3_Missense_Mutation_p.P72L|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1780L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1831L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1840						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTGTCCTGGGTTCCCTGTC	0.637000													5	107					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266950	16266950	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:16266950G>T	uc010gqp.2	-	8	1551	c.1499C>A	c.(1498-1500)aCt>aAt	p.T500N	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.T219N|POTEH_uc002zlj.1_Missense_Mutation_p.T335N	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	500										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCATTCTCAGTGTCAGGAAA	0.398000													88	773					5.30237e-35	6.413e-35	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6654032	6654032	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:6654032G>T	uc001mem.1	-	5	3112	c.2711C>A	c.(2710-2712)cCa>cAa	p.P904Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	904	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGTTTGGTGGTAGCAATAC	0.572000													81	97					7.30829e-53	8.96016e-53	1	1	0
FARP2	9855	broad.mit.edu	37	2	242407764	242407764	+	Silent	SNP	C	C	G	rs138469271		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:242407764C>G	uc002wbi.2	+	17	2267	c.2103C>G	c.(2101-2103)ccC>ccG	p.P701P		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	701	DH.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ATTACAGCCCCGGGCACCATG	0.637000													32	48					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76240801	76240801	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:76240801G>T	uc003uft.3	-	5	1292	c.545C>A	c.(544-546)tCc>tAc	p.S182Y	LOC100133091_uc003ufs.2_Intron|POMZP3_uc003ufu.3_Intron|POMZP3_uc011kgm.2_Non-coding_Transcript	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	Homo sapiens POM121 and ZP3 fusion (POMZP3), transcript variant 1, mRNA.	182										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCAGACGTGGACCACTGGCT	0.537000													96	204					7.2456e-63	8.94457e-63	1	1	0
FAM132A	388581	broad.mit.edu	37	1	1179848	1179848	+	Silent	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:1179848G>C	uc001adl.2	-	1	239	c.207C>G	c.(205-207)tcC>tcG	p.S69S		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA.	69						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGGGCGTCGGAGAACTCAG	0.682000													10	43					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818857	20818857	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:20818857C>G	uc002rdw.1	-	6	1110	c.1069G>C	c.(1069-1071)Gct>Cct	p.A357P		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	357					cell communication		phosphatidylinositol binding	p.V356V(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCCCAGCCACAGCTTCA	0.622000													79	82					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789856	4789856	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:4789856A>G	uc010vsl.2	+	9	1128	c.884A>G	c.(883-885)gAg>gGg	p.E295G	MINK1_uc010vsk.2_Missense_Mutation_p.E295G|MINK1_uc010vsm.2_Missense_Mutation_p.E295G|MINK1_uc010vsn.2_Missense_Mutation_p.E295G|MINK1_uc010vso.2_Missense_Mutation_p.E240G|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	295					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAGCCCACGGAGCGGCAGGTC	0.582000													29	63					0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43041648	43041648	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43041648T>C	uc003otw.1	+	14	2127	c.1808T>C	c.(1807-1809)aTg>aCg	p.M603T	PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.M585T|KLC4_uc011dvd.1_Missense_Mutation_p.M508T|KLC4_uc003otx.1_Missense_Mutation_p.M585T|KLC4_uc003oty.1_Missense_Mutation_p.M585T|KLC4_uc003otz.1_Missense_Mutation_p.M585T|PTK7_uc003oua.3_5'Flank	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	585						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCAGCAACATGAAGCGAGCA	0.537000													6	68					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55203876	55203876	+	Missense_Mutation	SNP	C	C	T	rs138744574	byFrequency	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:55203876C>T	uc001xbb.3	+	2	1155	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	SAMD4A_uc001xbc.3_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	284					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACCCCAGTGCCTCCCATCCGA	0.537000													38	65					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144661995	144661995	+	Missense_Mutation	SNP	C	C	G	rs11548159		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:144661995C>G	uc003yyq.2	-	7	2290	c.2061G>C	c.(2059-2061)caG>caC	p.Q687H	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Missense_Mutation_p.Q613H|EEF1D_uc011lki.2_Missense_Mutation_p.Q271H|EEF1D_uc003yyv.3_Missense_Mutation_p.Q247H|EEF1D_uc003yyu.3_Missense_Mutation_p.Q271H|EEF1D_uc011lkk.2_Missense_Mutation_p.Q271H|EEF1D_uc003yyt.3_Missense_Mutation_p.Q637H|EEF1D_uc003yyr.3_Missense_Mutation_p.Q637H|EEF1D_uc003yys.3_Missense_Mutation_p.Q271H|EEF1D_uc011lkl.2_Missense_Mutation_p.Q252H	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	271					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TATCGACACTCTGCACCTGAG	0.612000													34	55					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371294	84371294	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:84371294A>T	uc021zcf.1	-	3	409	c.379T>A	c.(379-381)Tat>Aat	p.Y127N	SNAP91_uc003pka.3_Missense_Mutation_p.Y127N|SNAP91_uc011dze.2_Missense_Mutation_p.Y127N|SNAP91_uc003pkc.3_Missense_Mutation_p.Y127N|SNAP91_uc003pkd.3_Missense_Mutation_p.Y127N|SNAP91_uc003pkb.3_Missense_Mutation_p.Y92N|SNAP91_uc011dzf.1_Missense_Mutation_p.Y8N	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	127	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATCTACTATAGCGCCTTATG	0.328000													38	28					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35101165	35101165	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr9:35101165C>A	uc003zwi.3	-	6	754	c.691G>T	c.(691-693)Gca>Tca	p.A231S	STOML2_uc011lou.2_Missense_Mutation_p.A186S	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	231						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCCTTTTCTGCTTCGGAGGCC	0.587000													5	83					0.00198382	0.00199496	1	1	0
RDH11	51109	broad.mit.edu	37	14	68159767	68159767	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:68159767T>G	uc001xjv.4	-	1	167	c.77A>C	c.(76-78)aAa>aCa	p.K26T	RDH11_uc001xjx.4_Missense_Mutation_p.K26T|RDH11_uc001xjw.4_Missense_Mutation_p.K26T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	26					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGACAGCATTTTCCTGCAGAC	0.483000													27	48					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33770331	33770331	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:33770331C>T	uc001muz.3	-	8	1068	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	FBXO3_uc010rej.2_Missense_Mutation_p.G34E|FBXO3_uc001muy.3_Missense_Mutation_p.G234E|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.G347E|FBXO3_uc001mvb.1_Missense_Mutation_p.G342E|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	347	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACCAACTACTCCAGGTCCTTG	0.373000													11	29					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47853600	47853600	+	Missense_Mutation	SNP	C	C	T	rs147316882		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:47853600C>T	uc003tny.2	-	47	7136	c.7102G>A	c.(7102-7104)Gga>Aga	p.G2368R	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.G95R	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2368					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATTTTCCTCCAAGAGCTCCA	0.458000													21	19					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042511	60042511	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:60042511T>C	uc002izo.3	-	19	4777	c.4700A>G	c.(4699-4701)aAt>aGt	p.N1567S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1567	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTGCAGCATTACTGTTCAT	0.443000													86	133					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093326	1093326	+	Silent	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:1093326C>A	uc001lsx.1	+	30	5172	c.5145C>A	c.(5143-5145)ggC>ggA	p.G1715G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1774	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.I1714I(1)|p.T1715S(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cacccaccggcacacagaccc	0.637000													3	32					0.00024832	0.000251126	1	1	0
GUCY2D	3000	broad.mit.edu	37	17	7910749	7910749	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:7910749G>A	uc002gjt.2	+	5	1543	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	490					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R490Q(1)		skin(1)	1		Prostate(122;0.157)				ACCAGGCACCGGCTACTTCAC	0.592000													4	54					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126860514	126860514	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:126860514G>C	uc003kuk.3	+	2	575	c.395G>C	c.(394-396)gGa>gCa	p.G132A	PRRC1_uc003kuj.4_Missense_Mutation_p.G132A	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	132						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCTATATCAGGATTTTCTGTT	0.507000													70	82					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186503770	186503770	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:186503770G>T	uc003fqs.3	+	4	486	c.447G>T	c.(445-447)caG>caT	p.Q149H	EIF4A2_uc003fqu.3_Missense_Mutation_p.Q150H|EIF4A2_uc003fqv.3_Missense_Mutation_p.Q54H|EIF4A2_uc003fqw.3_Missense_Mutation_p.Q54H|EIF4A2_uc011bsb.2_Missense_Mutation_p.Q22H|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank|EIF4A2_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	149	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAAACTGCAGGCTGAAGCAC	0.393000			T	BCL6	NHL								23	80					2.85442e-18	3.21346e-18	1	1	0
MBTD1	54799	broad.mit.edu	37	17	49302371	49302371	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:49302371A>C	uc002itr.4	-	2	496	c.152T>G	c.(151-153)aTg>aGg	p.M51R	MBTD1_uc002itq.4_Missense_Mutation_p.M51R	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	51					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATACTCACCCATGCCAGATTT	0.393000													21	46					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675669	102675669	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:102675669C>A	uc010txu.2	+	3	1327	c.1255C>A	c.(1255-1257)Ctt>Att	p.L419I	WDR20_uc001ylf.3_Missense_Mutation_p.L400I|WDR20_uc001ykz.3_Missense_Mutation_p.L388I|WDR20_uc001yky.2_Missense_Mutation_p.L131I|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.L327I|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.L327I|WDR20_uc001yld.3_Missense_Mutation_p.L388I|WDR20_uc021sdy.1_5'Flank	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	388										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						AGAAGATATCCTTTTCCCTCA	0.517000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	81					1.17673e-23	1.38575e-23	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378440	31378440	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:31378440T>A	uc003tch.3	-	1	796	c.443A>T	c.(442-444)gAa>gTa	p.E148V	NEUROD6_uc022abi.1_Missense_Mutation_p.E148V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	148					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTCAGAATTTCAGAAAGTGC	0.438000													31	46					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643239	138643239	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:138643239G>A	uc003ldw.3	+	2	538	c.135G>A	c.(133-135)atG>atA	p.M45I	MATR3_uc003lds.3_Missense_Mutation_p.M45I|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.M45I|MATR3_uc010jfb.3_Missense_Mutation_p.M45I|MATR3_uc003ldx.3_Missense_Mutation_p.M45I|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.M45I|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	45						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGGAAGGATGAACCAGGGTA	0.488000													73	89					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70932007	70932007	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:70932007A>T	uc001swb.4	-	25	5250	c.5220T>A	c.(5218-5220)gaT>gaA	p.D1740E	BC031864_uc001svz.3_Non-coding_Transcript|PTPRB_uc010sto.2_Missense_Mutation_p.D1650E|PTPRB_uc010stp.2_Missense_Mutation_p.D1650E|PTPRB_uc001swc.4_Missense_Mutation_p.D1958E|PTPRB_uc001swa.4_Missense_Mutation_p.D1870E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1740	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCGCGTGGCATCATCTGGAA	0.478000													57	83					0	0	1	0	0
GRPEL2	134266	broad.mit.edu	37	5	148730494	148730494	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:148730494C>T	uc003lqj.3	+	3	453	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GRPEL2_uc011dca.2_Missense_Mutation_p.S82F	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	109					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGAGTTTCTGTAAGGACT	0.478000													14	48					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72543559	72543559	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:72543559G>A	uc002auc.3	-	15	1756	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	PARP6_uc002aua.3_Missense_Mutation_p.P278S|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.P433S	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	433	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTGCTGAGAGGTAGTTTGACA	0.413000													36	39					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107380	76107380	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:76107380G>A	uc001xrs.2	+	6	1694	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S	FLVCR2_uc010tvd.1_Missense_Mutation_p.G235S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	440					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATCTCCTCCGGCCTCCTCAA	0.502000													5	171					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965249	94965249	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:94965249T>C	uc001tdj.2	-	3	1514	c.1396A>G	c.(1396-1398)Atc>Gtc	p.I466V	TMCC3_uc001tdi.2_Missense_Mutation_p.I435V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	466						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCACACAGGATATGGTCCCAG	0.418000													58	63					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511278	75511278	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:75511278G>A	uc003udw.1	+	1	394	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	104						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTTCTTCACCGTGATCTTCGC	0.562000													15	282					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105298839	105298839	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:105298839A>T	uc003pqu.1	-	2	441	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.F55Y	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	55					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATTGACATCAAATTTTGAATT	0.299000													43	34					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs145276193	by1000genomes	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:145323656A>T	uc021oul.1	+	26	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1165								p.I1165F(6)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473000													5	66					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42328636	42328636	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:42328636C>T	uc002xlb.1	+	6	1118	c.903C>T	c.(901-903)atC>atT	p.I301I	MYBL2_uc010zwj.1_Silent_p.I277I	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTCCTCATCCCTGCTGTGG	0.572000													27	36					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484287	87484287	+	Silent	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:87484287T>G	uc001kdl.1	-	10	1781	c.1680A>C	c.(1678-1680)ccA>ccC	p.P560P	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.P131P	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	560						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.P560P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGAAATCAAATGGAGCAAAGA	0.498000										Multiple Myeloma(13;0.14)			5	30					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36583634	36583634	+	Silent	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr9:36583634A>G	uc003zzn.3	+	2	207	c.69A>G	c.(67-69)gcA>gcG	p.A23A	MELK_uc022bgq.1_Intron|MELK_uc011lpm.2_Intron|MELK_uc011lpn.2_Silent_p.A23A|MELK_uc011lpo.2_Intron|MELK_uc010mll.3_Intron|MELK_uc011lpp.2_Silent_p.A23A|MELK_uc010mlm.3_Intron|MELK_uc011lpr.2_Silent_p.A23A|MELK_uc011lpq.2_Intron|MELK_uc011lps.2_Intron	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	23	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GTGGCTTTGCAAAGGTCAAAC	0.323000													9	12					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682718	31682718	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:31682718C>A	uc011kae.2	+	10	1824	c.1812C>A	c.(1810-1812)gaC>gaA	p.D604E	CCDC129_uc011kad.1_Missense_Mutation_p.D588E|CCDC129_uc003tcj.1_Missense_Mutation_p.D578E|CCDC129_uc003tci.1_Missense_Mutation_p.D429E|CCDC129_uc003tck.1_Missense_Mutation_p.D486E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	578										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAATGCAGGACAGTTTTGTGA	0.488000													46	63					3.28156e-27	3.91599e-27	1	1	0
YIPF3	25844	broad.mit.edu	37	6	43480515	43480515	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43480515A>G	uc003ovl.2	-	6	947	c.764T>C	c.(763-765)cTg>cCg	p.L255P	LRRC73_uc003ovk.1_5'Flank|YIPF3_uc011dvk.2_Missense_Mutation_p.L220P	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	255					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CAGTGTGGACAGTCCACCCAC	0.567000													58	94					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64204316	64204316	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:64204316C>G	uc002amr.3	-	9	970	c.939G>C	c.(937-939)agG>agC	p.R313S	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	313	Calmodulin-binding.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCTTCCACCGCCTGCGGACAT	0.622000													26	23					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40143495	40143495	+	Silent	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:40143495C>A	uc002xka.1	-	3	829	c.651G>T	c.(649-651)acG>acT	p.T217T	CHD6_uc002xkd.2_Silent_p.T195T|CHD6_uc002xkc.3_Silent_p.T252T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	217					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.L216P(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGATGGGTTCGTCAGGCCCT	0.537000													28	44					2.09667e-21	2.39047e-21	1	1	0
MAP2K3	5606	broad.mit.edu	37	17	21208389	21208389	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:21208389C>A	uc002gys.3	+	8	988	c.723C>A	c.(721-723)aaC>aaA	p.N241K	MAP2K3_uc002gyt.3_Missense_Mutation_p.N212K|MAP2K3_uc021tsq.1_Missense_Mutation_p.N212K|MAP2K3_uc021tsr.1_Missense_Mutation_p.N212K	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	241	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAGAGCTGAACCAGAAGGGCT	0.632000													10	68					5.3912e-06	5.51443e-06	1	1	0
KRT85	3891	broad.mit.edu	37	12	52754642	52754642	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:52754642C>T	uc001sag.3	-	8	1639	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	507	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTACTAGGCAAAGCGGACC	0.607000													21	25					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970372	108970372	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:108970372T>C	uc003yms.3	-	4	1210	c.552A>G	c.(550-552)acA>acG	p.T184T	RSPO2_uc003ymq.3_Silent_p.T117T|RSPO2_uc003ymr.3_Silent_p.T120T	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	184	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.D183E(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GACACAGTATTGTGTCTTTCA	0.443000													84	95					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086064	35086064	+	Silent	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:35086064T>G	uc003okd.2	-	9	1714	c.1533A>C	c.(1531-1533)acA>acC	p.T511T	TCP11_uc003ojz.1_Silent_p.T436T|TCP11_uc003oka.2_Silent_p.T436T|TCP11_uc003okb.2_Silent_p.T435T|TCP11_uc011dsu.1_Silent_p.T493T|TCP11_uc003okc.2_Silent_p.T435T|TCP11_uc011dsv.1_Silent_p.T460T|TCP11_uc011dsw.1_Silent_p.T465T	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	498					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACTCCACTTTTGTTTCCAGTG	0.498000													69	90					0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114391751	114391751	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:114391751G>A	uc002tks.4	+	4	300	c.159G>A	c.(157-159)acG>acA	p.T53T	RABL2A_uc002tkn.4_Silent_p.T53T|RABL2A_uc010flb.3_Silent_p.T53T|RABL2A_uc002tkm.4_Silent_p.T53T|RABL2A_uc002tkr.3_Silent_p.T53T|RABL2A_uc002tkp.4_Silent_p.T53T	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	53					small GTPase mediated signal transduction		GTP binding|GTPase activity	p.T53M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						AGCTGTCCACGTACGCCCTGA	0.537000													6	143					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101276971	101276971	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:101276971G>A	uc003yjj.1	-	6	1551	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	RNF19A_uc003yjk.1_Missense_Mutation_p.R412W	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	412					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	p.R412W(2)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAAATTCCGTTTGTGCTTT	0.373000													15	51					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3546268	3546268	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:3546268G>A	uc002lxw.3	-	6	1349	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	MFSD12_uc002lxx.3_Silent_p.L393L|MFSD12_uc002lxy.3_Silent_p.L384L|MFSD12_uc002lxz.3_Silent_p.L393L	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	393					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGGGACCGATGAGGTCGGCCG	0.687000													4	8					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61389632	61389632	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:61389632G>A	uc002ydf.3	+	2	1302	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	311						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGTGGTCATCGCCTTTGTGGT	0.612000													8	145					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038453	29038453	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr18:29038453T>G	uc002kws.3	+	3	371	c.262T>G	c.(262-264)Tct>Gct	p.S88A		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	88	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTACCGAATCTCTGGAGTGGG	0.448000													44	42					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938134	107938134	+	Missense_Mutation	SNP	G	G	A	rs104886424		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:107938134G>A	uc022ccg.1	+	50	5006	c.4804G>A	c.(4804-4806)Ggt>Agt	p.G1602S	COL4A5_uc004enz.1_Missense_Mutation_p.G1596S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1596	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTGTGGATTGGTTATTCCTT	0.453000									Alport syndrome with Diffuse Leiomyomatosis				6	160					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28961122	28961122	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:28961122G>A	uc002hfl.3	+	4	816	c.585G>A	c.(583-585)aaG>aaA	p.K195K	LRRC37BP1_uc010csj.2_Intron|LRRC37BP1_uc010wbq.1_Non-coding_Transcript|LRRC37BP1_uc010csi.2_Non-coding_Transcript					Homo sapiens leucine rich repeat containing 37B pseudogene 1 (LRRC37BP1), non-coding RNA.																		TAGAGGTAAAGACAATAATTA	0.313000													14	18					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220043	67220043	+	Silent	SNP	C	C	T	rs113329646		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:67220043C>T	uc001olm.3	-	0	158	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CABP4_uc009yrw.1_Non-coding_Transcript|CABP4_uc001oln.3_5'UTR|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	51						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGGCCAGCCACGCCATCAACC	0.662000													12	24					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57743531	57743531	+	Silent	SNP	A	A	G	rs147270008		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:57743531A>G	uc003dje.1	+	0	358	c.153A>G	c.(151-153)ctA>ctG	p.L51L	SLMAP_uc003djc.1_Silent_p.L51L|SLMAP_uc003djd.1_Silent_p.L51L|SLMAP_uc003djf.1_Silent_p.L51L	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	51	FHA.|Necessary for targeting to centrosomes (By similarity).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GCAAAGTGCTATCAAGGAACC	0.498000													187	41					0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486196	142486196	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:142486196G>A	uc003ywi.2	-	12	1578	c.1497C>T	c.(1495-1497)acC>acT	p.T499T	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	499							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCGGAAGCAGGTGGACAGGA	0.617000													53	45					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346642	102346642	+	Silent	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:102346642G>T	uc010utr.2	+	0	720	c.720G>T	c.(718-720)ctG>ctT	p.L240L		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTCTATGCTGTCAGCTCATG	0.353000													30	56					4.14481e-20	4.6957e-20	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95360468	95360468	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:95360468T>C	uc001dqv.4	+	14	2059	c.1952T>C	c.(1951-1953)aTt>aCt	p.I651T	SLC44A3_uc001dqx.4_Missense_Mutation_p.I650T|SLC44A3_uc010otq.2_Missense_Mutation_p.I583T|SLC44A3_uc010otr.2_Missense_Mutation_p.I615T|SLC44A3_uc001dqw.4_Missense_Mutation_p.I603T|SLC44A3_uc010ots.2_Missense_Mutation_p.I571T|SLC44A3_uc009wds.3_Missense_Mutation_p.I554T|SLC44A3_uc010ott.2_Missense_Mutation_p.I570T	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	651						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CTCCAGGCCATTGTGAGATAG	0.403000													43	181					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140380887	140380887	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:140380887G>T	uc003vvy.1	+	3	1433	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	ADCK2_uc003vvz.3_Missense_Mutation_p.D419Y	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	419	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AATTCCCGTGGACTTGAAAAG	0.562000													93	128					1.76152e-51	2.14498e-51	1	1	0
ACOT9	23597	broad.mit.edu	37	X	23723676	23723676	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:23723676G>A	uc004dao.3	-	12	1115	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ACOT9_uc004dan.3_Silent_p.F64F|ACOT9_uc004dap.3_Silent_p.F314F|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Silent_p.F254F	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	314					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TCCTCATAAGGAAACCACCAA	0.393000													37	14					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090635	184090635	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:184090635A>C	uc003fol.1	-	5	943	c.728T>G	c.(727-729)aTc>aGc	p.I243S	THPO_uc003fom.2_Missense_Mutation_p.I239S|THPO_uc021xii.1_Missense_Mutation_p.N237K|THPO_uc003fon.3_Missense_Mutation_p.N204K|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.N200K|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.N164K	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	243					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTATCCGGGGATTTGGTCCAG	0.552000													39	81					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16465479	16465479	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:16465479A>G	uc003jfq.3	-	0	416	c.296T>C	c.(295-297)gTg>gCg	p.V99A		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	99						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACTGCCTGCACGGCCTTCTT	0.537000													26	98					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959068	2959068	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:2959068G>A	uc003smv.3	-	17	2782	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	816					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGACCCGCGCGCACAGCCACT	0.607000			Mis		DLBCL								6	231					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23690422	23690422	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr16:23690422C>A	uc002dlz.1	+	0	222	c.169C>A	c.(169-171)Cgc>Agc	p.R57S		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	57	Protein kinase.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGTGCGGGGCCGCTTTTTGGG	0.657000													43	77					2.27459e-33	2.73256e-33	1	1	0
CECR2	27443	broad.mit.edu	37	22	18029082	18029082	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:18029082G>A	uc010gqw.1	+	15	4033	c.4033G>A	c.(4033-4035)Gcc>Acc	p.A1345T	CECR2_uc010gqv.1_Missense_Mutation_p.A1205T|CECR2_uc002zml.2_Missense_Mutation_p.A1206T|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1389					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGTGGCTGCCCTCCCACC	0.637000													23	25					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52181040	52181040	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:52181040C>A	uc003dcu.3	-	4	845	c.527G>T	c.(526-528)aGc>aTc	p.S176I	POC1A_uc003dcv.3_Missense_Mutation_p.S138I|POC1A_uc003dcw.3_Missense_Mutation_p.S176I	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	176						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						ACATTCCCGGCTGCTCTTGTC	0.592000													26	78					1.13719e-10	1.2189e-10	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52637647	52637647	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:52637647G>T	uc003des.2	-	16	2681	c.2669C>A	c.(2668-2670)gCa>gAa	p.A890E	PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Missense_Mutation_p.A890E|PBRM1_uc003der.2_Missense_Mutation_p.A858E|PBRM1_uc003det.2_Missense_Mutation_p.A905E|PBRM1_uc003deu.2_Missense_Mutation_p.A905E|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.A890E|PBRM1_uc010hmk.1_Missense_Mutation_p.A890E|PBRM1_uc003dey.2_Missense_Mutation_p.A890E|PBRM1_uc003dez.1_Missense_Mutation_p.A890E|PBRM1_uc003dfb.1_Missense_Mutation_p.A803E|PBRM1_uc003dfa.1_Missense_Mutation_p.A236E	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	890					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAGCTGAGTGCCGGTGAAAG	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								19	2					1.42536e-11	1.53698e-11	1	1	0
PCLO	27445	broad.mit.edu	37	7	82585266	82585266	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:82585266T>C	uc003uhx.2	-	4	5292	c.5003A>G	c.(5002-5004)aAa>aGa	p.K1668R	PCLO_uc003uhv.2_Missense_Mutation_p.K1668R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1599					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCAATTGTTTTAAATCGGCG	0.368000													41	48					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827527	107827527	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:107827527C>A	uc003prx.3	+	2	821	c.317C>A	c.(316-318)gCc>gAc	p.A106D	SOBP_uc003prw.1_Missense_Mutation_p.A106D	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	106							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCAGGGCTTGCCACTGGAAAT	0.413000													10	51					6.31663e-08	6.5357e-08	1	1	0
NUS1	116150	broad.mit.edu	37	6	118015319	118015319	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:118015319G>A	uc003pxw.3	+	2	884	c.667G>A	c.(667-669)Gta>Ata	p.V223I		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) (NUS1), mRNA.	223					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AGATTTGGATGTAGATACGTT	0.373000													41	28					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029635	110029635	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:110029635G>C	uc001dxr.3	+	3	320	c.305G>C	c.(304-306)aGa>aCa	p.R102T	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	102										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGAAAGAAGACATGGGCCC	0.547000													13	81					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64522891	64522891	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:64522891C>A	uc001xgl.3	+	48	10204	c.9974C>A	c.(9973-9975)gCc>gAc	p.A3325D	SYNE2_uc001xgm.3_Missense_Mutation_p.A3325D|SYNE2_uc021ruh.1_Missense_Mutation_p.A3358D|SYNE2_uc010apw.1_Missense_Mutation_p.A31D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3325					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCCCCGAAGCCAAACTACAA	0.438000													45	55					5.2118e-15	5.68849e-15	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10699156	10699158	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:10699156_10699158delTCG	uc001aro.3	-	20	5441_5443	c.5121_5123delCGA	c.(5119-5124)gacgag>gag	p.D1707del		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1707	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		gtcgtcgtcctcgtcgtcgtcct	0.744													2	4	---	---	---	---					
RCAN3	11123	broad.mit.edu	37	1	24840954	24840954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:24840954delA	uc021ojc.1	+	1	264	c.92delA	c.(91-93)gaafs	p.E31fs	RCAN3_uc021ojd.1_Intron|RCAN3_uc021oje.1_Frame_Shift_Del_p.E31fs|RCAN3_uc001bjj.3_Frame_Shift_Del_p.E31fs|RCAN3_uc009vre.3_Frame_Shift_Del_p.E31fs|RCAN3_uc021ojf.1_Intron|RCAN3_uc021ojg.1_Frame_Shift_Del_p.E31fs|RCAN3_uc009vrg.3_Frame_Shift_Del_p.E31fs|RCAN3_uc009vrd.3_Frame_Shift_Del_p.E31fs|RCAN3_uc009vrf.3_Frame_Shift_Del_p.E31fs	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	31					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		ATTTTTGGTGAAAATGAAGAT	0.438													121	144	---	---	---	---					
DNALI1	7802	broad.mit.edu	37	1	38027791	38027793	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:38027791_38027793delAGA	uc001cbj.3	+	4	762_764	c.752_754delAGA	c.(751-756)gagaag>gag	p.K253del	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	231					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGTGGAGGAGAAGAAGCACAA	0.567													56	54	---	---	---	---					
KIAA0494	9813	broad.mit.edu	37	1	47144193	47144194	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:47144193_47144194delAA	uc001cqk.4	-	10	2404_2405	c.1427_1428delTT	c.(1426-1428)tttfs	p.F476fs	KIAA0494_uc010omh.1_Intron|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Frame_Shift_Del_p.F268fs	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	476	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CATCGGAATCAAATGCTCTCAA	0.475													21	35	---	---	---	---					
CTTNBP2NL	55917	broad.mit.edu	37	1	112999419	112999419	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:112999419delG	uc001ebx.3	+	5	1533	c.1305delG	c.(1303-1305)aagfs	p.K435fs	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	435						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCACTAAGCGTTTATTGG	0.557													88	54	---	---	---	---					
ZNF648	127665	broad.mit.edu	37	1	182026912	182026918	+	Frame_Shift_Del	DEL	TTCCTCT	TTCCTCT	-	rs145733361	by1000genomes	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:182026912_182026918delTTCCTCT	uc001goz.3	-	1	436_442	c.228_234delAGAGGAA	c.(226-234)aaagaggaafs	p.K76fs	ZNF648_uc021pfu.1_Frame_Shift_Del_p.K76fs	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77D(2)|p.G75G(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGAATTTCTCTTCCTCTTTGCCCAGTG	0.560													31	130	---	---	---	---					
RPSA	3921	broad.mit.edu	37	3	39453553	39453556	+	Splice_Site	DEL	GTAT	GTAT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:39453553_39453556delGTAT	uc003cjq.3	+	6	893	c.808_splice	c.e6+1	p.E270_splice	RPSA_uc003cjp.3_Splice_Site_p.E265_splice	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	265	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TTCCCTACTGGTATGTATCAGGAT	0.431													17	6	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47163966	47163967	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:47163966_47163967insC	uc003cqv.3	-	2	2212_2213	c.2126_2127insG	c.(2125-2127)ggafs	p.G709fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.G720fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATTCTGAAATCCATTTGATGA	0.391			"""N, F, S, Mis"""		clear cell renal carcinoma								37	12	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:75790810_75790811insT	uc011bgi.2	-	2	457_458	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													4	8	---	---	---	---					
FAM194A	131831	broad.mit.edu	37	3	150421522	150421523	+	In_Frame_Ins	INS	-	-	CCTCCT			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:150421522_150421523insCCTCCT	uc003eyg.3	-	0	220_221	c.163_164insAGGAGG	c.(163-165)gtg>gAGGAGGtg	p.54_55insEE	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	54	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctccaccacctcctcctcc	0.604													34	47	---	---	---	---					
TMPRSS11A	339967	broad.mit.edu	37	4	68777111	68777111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr4:68777111delG	uc003hdr.1	-	9	1336	c.1215delC	c.(1213-1215)tacfs	p.Y405fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y402fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	405	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCACTTGTGTGTAGACTCCAG	0.408													70	93	---	---	---	---					
SLC17A3	10786	broad.mit.edu	37	6	25850278	25850278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:25850278delA	uc003nfk.4	-	8	1231	c.1121delT	c.(1120-1122)ttafs	p.L374fs	SLC17A3_uc003nfi.4_Frame_Shift_Del_p.L296fs|SLC17A3_uc011djz.1_3'UTR	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	296					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTCTTACCTAAAATTGTGGC	0.408													41	58	---	---	---	---					
KLC4	89953	broad.mit.edu	37	6	43041642	43041643	+	Frame_Shift_Ins	INS	-	-	CAACACGA			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43041642_43041643insCAACACGA	uc003otw.1	+	14	2121_2122	c.1802_1803insCAACACGA	c.(1801-1803)agcfs	p.S601fs	PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Frame_Shift_Ins_p.S583fs|KLC4_uc011dvd.1_Frame_Shift_Ins_p.S506fs|KLC4_uc003otx.1_Frame_Shift_Ins_p.S583fs|KLC4_uc003oty.1_Frame_Shift_Ins_p.S583fs|KLC4_uc003otz.1_Frame_Shift_Ins_p.S583fs|PTK7_uc003oua.3_5'Flank	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	583						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CATTGTAGCAGCAACATGAAGC	0.540													21	108	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157099342	157099342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:157099342delC	uc003qqp.3	+	0	279	c.279delC	c.(277-279)cacfs	p.H93fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.H93fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.H93fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	93	His-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		cccaccaccaccaccaccatg	0.652													2	4	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82579041	82579041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:82579041delT	uc003uhx.2	-	5	11152	c.10863delA	c.(10861-10863)aaafs	p.K3621fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K3621fs|PCLO_uc010lec.3_Frame_Shift_Del_p.K586fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3552					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAAAGGACTTTGGGGGATT	0.478													46	65	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155534581	155534582	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:155534581_155534582insA	uc010lqk.1	+	12	2486_2487	c.2118_2119insA	c.(2116-2121)agcaatfs	p.S706fs	RBM33_uc011kvv.1_Frame_Shift_Ins_p.S515fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	706							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAAGGAACAGCAATTTGCGTGA	0.490													69	97	---	---	---	---					
FUT10	84750	broad.mit.edu	37	8	33246682	33246683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:33246682_33246683insA	uc011lbi.2	-	3	1326_1327	c.1160_1161insT	c.(1159-1161)atcfs	p.I387fs	FUT10_uc003xjc.3_Frame_Shift_Ins_p.I344fs|FUT10_uc003xjd.3_Frame_Shift_Ins_p.I309fs|FUT10_uc003xje.3_Frame_Shift_Ins_p.I337fs|FUT10_uc003xjf.3_Frame_Shift_Ins_p.I275fs|FUT10_uc003xjg.3_Frame_Shift_Ins_p.I309fs|FUT10_uc003xjh.3_Frame_Shift_Ins_p.I337fs			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	337					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CCAGTCGTCTGATGTAACTTGC	0.460													126	185	---	---	---	---					
SUFU	51684	broad.mit.edu	37	10	104263976	104263982	+	Frame_Shift_Del	DEL	CCCCCGG	CCCCCGG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:104263976_104263982delCCCCCGG	uc001kvy.2	+	0	258_264	c.67_73delCCCCCGG	c.(67-75)cccccggccfs	p.P23fs	SUFU_uc001kvw.2_Frame_Shift_Del_p.P23fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.P23fs|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	23					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.A25fs*23(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		cccgactgcccccccggccTTCGCTTC	0.729			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				10	3	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105205187	105205189	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:105205187_105205189delTTC	uc001kwy.1	+	35	5584_5586	c.5497_5499delTTC	c.(5497-5499)ttcdel	p.F1835del		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1835					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAGAATGAAGTTCTTCTTCAAGC	0.542													56	155	---	---	---	---					
CD6	923	broad.mit.edu	37	11	60778597	60778605	+	In_Frame_Del	DEL	AGTCACTAT	AGTCACTAT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:60778597_60778605delAGTCACTAT	uc001nqq.3	+	5	1365_1373	c.1140_1148delAGTCACTAT	c.(1138-1149)acagtcactata>aca	p.VTI381del	CD6_uc009yni.3_In_Frame_Del_p.VTI280del|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_In_Frame_Del_p.VTI381del|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_In_Frame_Del_p.VTI381del|CD6_uc001nqt.3_In_Frame_Del_p.VTI381del	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	381					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTGTTCAGACAGTCACTATAGGTAAGTGT	0.526													38	133	---	---	---	---					
HNRNPUL2	221092	broad.mit.edu	37	11	62491416	62491416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:62491416delC	uc001nuw.3	-	2	950	c.721delG	c.(721-723)gagfs	p.E241fs	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	241	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTTGATCCTCCTCCTCATCT	0.383													95	62	---	---	---	---					
HEPHL1	341208	broad.mit.edu	37	11	93797512	93797529	+	In_Frame_Del	DEL	ATTCAGGGACACGGAATG	ATTCAGGGACACGGAATG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:93797512_93797529delATTCAGGGACACGGAATG	uc001pep.2	+	3	801_818	c.644_661delATTCAGGGACACGGAATG	c.(643-663)tattcagggacacggaatgat>tat	p.SGTRND216del		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	216					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGAATAGATATTCAGGGACACGGAATGATGTGGATCG	0.394													15	53	---	---	---	---					
AK096395	0	broad.mit.edu	37	12	6692008	6692011	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:6692008_6692011delACTT	uc001qpq.1	+	1	299_302	c.211_214delACTT	c.(211-216)acttacfs	p.T71fs	CHD4_uc001qpn.3_Intron|CHD4_uc001qpo.3_Intron|CHD4_uc001qpp.3_Intron|SCARNA11_uc001qpr.1_5'Flank					Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.																		ATCGTATGGCACTTACTTCAATAT	0.515													20	25	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46205220	46205221	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:46205220_46205221delAA	uc001ros.1	+	3	304_305	c.304_305delAA	c.(304-306)aaafs	p.K102fs	ARID2_uc001ror.3_Frame_Shift_Del_p.K102fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	102	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGTACGAGAAAGTTCATCAT	0.366			"""N, S, F"""		hepatocellular carcinoma								33	50	---	---	---	---					
KCNH3	23416	broad.mit.edu	37	12	49951017	49951018	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:49951017_49951018delAC	uc001ruh.1	+	13	2887_2888	c.2627_2628delAC	c.(2626-2628)gacfs	p.D876fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.D816fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	876					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAACACAGACACACTGGACA	0.619													51	74	---	---	---	---					
C12orf51	283450	broad.mit.edu	37	12	112623045	112623046	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:112623045_112623046insC	uc021reb.1	-	60	9718_9719	c.9322_9323insG	c.(9322-9324)gcgfs	p.A3108fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						Accggccgccgcccccccggag	0.639													6	6	---	---	---	---					
CCDC42B	387885	broad.mit.edu	37	12	113593105	113593106	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:113593105_113593106delAG	uc010sys.2	+	5	731_732	c.731_732delAG	c.(730-732)aagfs	p.K244fs		NM_001144872	NP_001138344	A6NFT4	CC42B_HUMAN	Homo sapiens coiled-coil domain containing 42B (CCDC42B), mRNA.	244																	GCAGCGGAGAAGACTCTGCTCC	0.609													35	46	---	---	---	---					
PXN	5829	broad.mit.edu	37	12	120653013	120653013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:120653013delG	uc001txv.3	-	6	1181	c.1039delC	c.(1039-1041)cagfs	p.Q347fs	PXN_uc001txu.3_Frame_Shift_Del_p.Q145fs|PXN_uc001txx.3_Frame_Shift_Del_p.Q166fs|PXN_uc001txt.3_Frame_Shift_Del_p.Q333fs|PXN_uc001txy.3_Frame_Shift_Del_p.Q299fs|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	333					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTCCAGCTGGCTCCCGGGC	0.677													30	37	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671097	25671098	+	Frame_Shift_Ins	INS	-	-	T	rs140090397	by1000genomes	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:25671097_25671098insT	uc001upy.3	+	0	822_823	c.761_762insT	c.(760-762)aagfs	p.K254fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	254	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAATGGAAAGGAGCTCAATG	0.401													12	106	---	---	---	---					
LOC100506874	100506874	broad.mit.edu	37	15	85121409	85121409	+	RNA	DEL	T	T	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:85121409delT	uc021stt.1	+	3		c.677delT			LOC100506874_uc021stu.1_Non-coding_Transcript|LOC100506874_uc002bko.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100506874 (LOC100506874), transcript variant 2, non-coding RNA.																		GTTGTTAGGATTCTCTGAATC	0.418													20	23	---	---	---	---					
FANCI	55215	broad.mit.edu	37	15	89801970	89801970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:89801970delA	uc010bnp.1	+	2	210	c.120delA	c.(118-120)ggafs	p.G40fs	FANCI_uc002bnm.1_Frame_Shift_Del_p.G40fs|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Frame_Shift_Del_p.G40fs	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	40					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGTGAAAGGAAAAGTTGCTG	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				46	56	---	---	---	---					
EPS15L1	58513	broad.mit.edu	37	19	16548668	16548669	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:16548668_16548669delAT	uc002ndx.3	-	4	227_228	c.221_222delAT	c.(220-222)tatfs	p.Y74fs	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Frame_Shift_Del_p.Y74fs|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Frame_Shift_Del_p.Y74fs|EPS15L1_uc010eah.1_Frame_Shift_Del_p.Y74fs|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Frame_Shift_Del_p.Y74fs	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	74	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCAGTGCAACATAGAAACCCTG	0.500													34	79	---	---	---	---					
C22orf42	150297	broad.mit.edu	37	22	32555017	32555019	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:32555017_32555019delCTG	uc003amd.3	-	0	225_227	c.184_186delCAG	c.(184-186)cagdel	p.Q62del		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	62										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCTGAGGTACTGCATGAGTTGG	0.537													49	226	---	---	---	---					
