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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
SLC25A24	29957	broad.mit.edu	37	1	108724652	108724653	+	Splice_Site	INS	-	-	CCCATTCATTTTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:108724652_108724653insCCCATTCATTTTG	ENST00000565488.1	-	3	530		c.e3-2		SLC25A24_ENST00000370041.4_Splice_Site	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	NA					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CAATTTTTCCTTTAAAAAAATA	0.337		NA											False	0	True	1:108724652	0
PPRC1	23082	broad.mit.edu	37	10	103907072	103907073	+	In_Frame_Ins	INS	-	-	TCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:103907072_103907073insTCC	ENST00000278070.2	+	9	4362_4363	c.4323_4324insTCC	c.(4324-4326)tcc>TCCtcc	p.1442_1442S>SS	PPRC1_ENST00000370012.1_In_Frame_Ins_p.409_409S>SS|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1442	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGAAGCATCTTCCTCATCCTC	0.629		NA											False	1	False	10:103907072	0
WDR11	55717	broad.mit.edu	37	10	122624718	122624719	+	Frame_Shift_Ins	INS	-	-	ATATCAGACCTAATAAAAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:122624718_122624719insATATCAGACCTAATAAAAGA	ENST00000263461.6	+	6	1119_1120	c.873_874insATATCAGACCTAATAAAAGA	c.(874-876)ttafs	p.L292fs		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	292						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAGTTCCATTTTTACAGGTATC	0.356		NA											False	0	True	10:122624718	0
SMC3	9126	broad.mit.edu	37	10	112361496	112361497	+	In_Frame_Ins	INS	-	-	TACCTATAAAGCCAGTGTTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTAT	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTAT	c.(2746-2748)aat>aTACCTATAAAGCCAGTGTTATat	p.916_916N>IPIKPVLY		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356		NA											False	0	True	10:112361496	0
C11orf16	56673	broad.mit.edu	37	11	8942889	8942890	+	Frame_Shift_Del	DEL	AT	AT	-	rs10583719		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:8942889_8942890delAT	ENST00000326053.5	-	6	1483_1484	c.1377_1378delAT	c.(1375-1380)atatgtfs	p.IC459fs	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	459										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCCACTGACATATTGCAAGGC	0.54		NA											False	2	False	11:8942889	0
IGSF22	283284	broad.mit.edu	37	11	18737105	18737106	+	In_Frame_Ins	INS	-	-	CCGTAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:18737105_18737106insCCGTAG	ENST00000513874.1	-	11	1543_1544	c.1404_1405insCTACGG	c.(1402-1407)catgag>catCTACGGgag	p.468_469HE>HLRE	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	468	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGCTTGCCCTCATGGTTCATGC	0.545		NA											False	0	False	11:18737105	0
NOTCH2	4853	broad.mit.edu	37	1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564		NA	"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				False	0	True	1:120458705	0
SEC22B	9554	broad.mit.edu	37	1	145115910	145115911	+	RNA	INS	-	-	AAGTATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:145115910_145115911insAAGTATT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)	NA					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				NA						ACAGTCACTGGTAAGGGAGAAC	0.401		NA											False	0	False	1:145115910	0
OR5D16	390144	broad.mit.edu	37	11	55606811	55606815	+	Frame_Shift_Del	DEL	ATCTC	ATCTC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	ATCTC	ATCTC	-	-	ATCTC	ATCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:55606811_55606815delATCTC	ENST00000378396.1	+	1	584_588	c.584_588delATCTC	c.(583-588)tatctcfs	p.YL195fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L196L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTGACTCTTATCTCAGCCAGTTGC	0.39		NA											False	1	False	11:55606811	0
OR5R1	219479	broad.mit.edu	37	11	56184985	56184986	+	In_Frame_Ins	INS	-	-	TTGGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56184985_56184986insTTGGAT	ENST00000312253.1	-	1	722_723	c.723_724insATCCAA	c.(721-726)tgtggc>tgtATCCAAggc	p.241_242CG>CIQG		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATATGGGAGCCACAGGTGGAAA	0.46		NA											False	0	False	11:56184985	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
OR5M10	390167	broad.mit.edu	37	11	56344850	56344851	+	Frame_Shift_Ins	INS	-	-	ATCAATCATTTCTACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56344850_56344851insATCAATCATTTCTACT	ENST00000526812.2	-	1	412_413	c.347_348insAGTAGAAATGATTGAT	c.(346-348)gctfs	p.-116fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	NA					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATGCCATTGAAGCAAGGAAGTA	0.455		NA											False	0	False	11:56344850	0
MALAT1	0	broad.mit.edu	37	11	65269284	65269285	+	RNA	INS	-	-	GTACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65269284_65269285insGTACT	ENST00000534336.1	+	0	4052_4053					NR_002819.2					NA											NA						GTTTTCCAATAATGTGACTTCT	0.416		NA											False	0	False	11:65269284	0
MALAT1	0	broad.mit.edu	37	11	65269286	65269287	+	RNA	INS	-	-	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65269286_65269287insA	ENST00000534336.1	+	0	4054_4055					NR_002819.2					NA											NA						TTTCCAATAATGTGACTTCTTA	0.411		NA											False	0	False	11:65269286	0
MALAT1	0	broad.mit.edu	37	11	65271291	65271292	+	RNA	INS	-	-	TAAATAAGGAGACAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65271291_65271292insTAAATAAGGAGACAG	ENST00000534336.1	+	0	6059_6060					NR_002819.2					NA											NA						CAAATTTTATTCTTCATAAAGT	0.371		NA											False	0	False	11:65271291	0
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596		NA											False	1	True	11:116729011	0
RNF214	257160	broad.mit.edu	37	11	117117666	117117667	+	Splice_Site	INS	-	-	TATTTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:117117666_117117667insTATTTTC	ENST00000530849.1	+	5	504		c.e5+2		RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000531287.1_Splice_Site|RNF214_ENST00000531452.1_Splice_Site			Q8ND24	RN214_HUMAN	ring finger protein 214	NA							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GGGCAGAAGGTAACTGATGTTA	0.376		NA											False	0	False	11:117117666	0
AICDA	57379	broad.mit.edu	37	12	8757493	8757494	+	In_Frame_Ins	INS	-	-	GTCTTTTTTGGAGTTTCGTAT	rs104894327		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:8757493_8757494insGTCTTTTTTGGAGTTTCGTAT	ENST00000229335.6	-	4	555_556	c.452_453insATACGAAACTCCAAAAAAGAC	c.(451-453)ttt>ttATACGAAACTCCAAAAAAGACt	p.151_151F>LYETPKKT	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	151			F -> S (in HIGM2).		B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTTTTCTACAAAAGTATTCCA	0.426		NA											False	0	True	12:8757493	0
KIAA1467	57613	broad.mit.edu	37	12	13208626	13208627	+	Frame_Shift_Ins	INS	-	-	AAATATATGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:13208626_13208627insAAATATATGG	ENST00000197268.8	+	2	299_300	c.179_180insAAATATATGG	c.(178-183)cccgacfs	p.D61fs		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCGCCAGAACCCGACTCAGATG	0.554		NA											False	0	True	12:13208626	0
LYZ	4069	broad.mit.edu	37	12	69742300	69742301	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742300_69742301insCC	ENST00000549690.1	+	1	137_138	c.112_113insCC	c.(112-114)tacfs	p.Y38fs	LYZ_ENST00000548839.1_Frame_Shift_Ins_p.Y38fs|LYZ_ENST00000261267.2_Frame_Shift_Ins_p.Y38fs			P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AATGGATGGCTACAGGGGAATC	0.465		NA											False	0	False	12:69742300	0
LYZ	4069	broad.mit.edu	37	12	69742301	69742302	+	In_Frame_Ins	INS	-	-	CCCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742301_69742302insCCCTTT	ENST00000549690.1	+	1	138_139	c.113_114insCCCTTT	c.(112-117)tacagg>taCCCTTTcagg	p.38_39YR>YPFR	LYZ_ENST00000548839.1_In_Frame_Ins_p.38_39YR>YPFR|LYZ_ENST00000261267.2_In_Frame_Ins_p.38_39YR>YPFR			P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			ATGGATGGCTACAGGGGAATCA	0.465		NA											False	0	False	12:69742301	0
SYT1	6857	broad.mit.edu	37	12	79679720	79679721	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679720_79679721insGG	ENST00000261205.4	+	5	977_978	c.320_321insGG	c.(319-324)gtaaaafs	p.K108fs	SYT1_ENST00000552744.1_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.K108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	108					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATGAAAGATGTAAAAGACTTAG	0.302		NA											False	0	True	12:79679720	0
SYT1	6857	broad.mit.edu	37	12	79679721	79679722	+	Frame_Shift_Ins	INS	-	-	AAACCTTTTAACTCATGGGCTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679721_79679722insAAACCTTTTAACTCATGGGCTAT	ENST00000261205.4	+	5	978_979	c.321_322insAAACCTTTTAACTCATGGGCTAT	c.(322-324)aaafs	p.-108fs	SYT1_ENST00000552744.1_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.-108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	NA					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAAAGATGTAAAAGACTTAGG	0.302		NA											False	0	True	12:79679721	0
PRDM4	11108	broad.mit.edu	37	12	108145479	108145480	+	Frame_Shift_Ins	INS	-	-	GTCTTTCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:108145479_108145480insGTCTTTCT	ENST00000228437.5	-	5	1297_1298	c.838_839insAGAAAGAC	c.(838-840)atgfs	p.M280fs	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	280					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTGTCAGACATGCCATTGACC	0.545		NA											False	0	False	12:108145479	0
LCE1F	353137	broad.mit.edu	37	1	152748914	152748928	+	In_Frame_Del	DEL	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-	rs145192933		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-	-	AAGTGCCCCACACCG	AAGTGCCCCACACCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:152748914_152748928delAAGTGCCCCACACCG	ENST00000334371.2	+	1	67_81	c.67_81delAAGTGCCCCACACCG	c.(67-81)aagtgccccacaccgdel	p.KCPTP23del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	23	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgccctcccaagtgccccacaccgaagtgccccc	0.651		NA											False	1	True	1:152748914	0
NUP210L	91181	broad.mit.edu	37	1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGAAGTATTTATTTTGGAATG	0.386		NA											False	0	True	1:154030623	0
NEK5	341676	broad.mit.edu	37	13	52701739	52701740	+	Translation_Start_Site	INS	-	-	GGGAAATCAGATAGCAAGCACTGTGTCAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:52701739_52701740insGGGAAATCAGATAGCAAGCACTGTGTCAT	ENST00000355568.4	-	0	108_109					NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	NA							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACTTAGCTAAAACTTTCCTCCC	0.386		NA											False	0	True	13:52701739	0
MYCBP2	23077	broad.mit.edu	37	13	77672728	77672729	+	Frame_Shift_Ins	INS	-	-	CAAAGGATTCTACAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:77672728_77672729insCAAAGGATTCTACAGA	ENST00000544440.2	-	56	8463_8464	c.8446_8447insTCTGTAGAATCCTTTG	c.(8446-8448)agtfs	p.S2816fs	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGCAGTACTTTTTTGAGGT	0.47		NA											False	0	True	13:77672728	0
HAUS4	54930	broad.mit.edu	37	14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559		NA											False	0	False	14:23417134	0
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361		NA											False	0	False	14:58934617	0
SNHG14	0	broad.mit.edu	37	15	25230366	25230367	+	RNA	INS	-	-	CTGCAGATAGTGTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:25230366_25230367insCTGCAGATAGTGTA	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1					NA											NA						AACATAAATTCTTAGACTCTAA	0.371		NA											False	0	False	15:25230366	0
MYO5A	4644	broad.mit.edu	37	15	52720764	52720765	+	In_Frame_Ins	INS	-	-	CTTATTTATACGTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:52720764_52720765insCTTATTTATACGTAT	ENST00000399231.3	-	3	383_384	c.140_141insATACGTATAAATAAG	c.(139-141)gat>gaATACGTATAAATAAGt	p.47_47D>EYV*IS	MYO5A_ENST00000358212.6_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000399233.2_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000553916.1_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000356338.6_In_Frame_Ins_p.47_47D>EYV*IS	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	47	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGTATTCCAAATCCTGAAAATG	0.441		NA											False	0	True	15:52720764	0
LACTB	114294	broad.mit.edu	37	15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATTACAATATTAACCTGAAAAAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:63419711_63419712insATTCAATTACAATATTAACCTGAAAAAT	ENST00000413507.2	+	4	814_815	c.775_776insATTCAATTACAATATTAACCTGAAAAAT	c.(775-777)aagfs	p.K259fs	LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	259						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332		NA											False	0	True	15:63419711	0
ZNF609	23060	broad.mit.edu	37	15	64791809	64791810	+	Frame_Shift_Ins	INS	-	-	TTTCCTATTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:64791809_64791810insTTTCCTATTT	ENST00000326648.3	+	1	319_320	c.191_192insTTTCCTATTT	c.(190-195)gctgtgfs	p.V65fs	ZNF609_ENST00000416172.1_Frame_Shift_Ins_p.V65fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	65						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCCCAATGCTGTGGCCACAC	0.51		NA											False	0	False	15:64791809	0
HEXA	3073	broad.mit.edu	37	15	72638920	72638921	+	Frame_Shift_Ins	INS	-	-	GATA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:72638920_72638921insGATA	ENST00000566304.1	-	11	1330_1331	c.1310_1311insTATC	c.(1309-1311)tccfs	p.-437fs	HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Ins_p.-426fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.-253fs|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000268097.5_Frame_Shift_Ins_p.-426fs			P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	NA					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGGGCCATAGGATATACGGTT	0.54		NA											False	1	False	15:72638920	0
AKAP13	11214	broad.mit.edu	37	15	86118478	86118479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:86118478_86118479insC	ENST00000394518.2	+	6	874_875	c.779_780insC	c.(778-783)gattcafs	p.S261fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	261					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTGAGTCTGATTCACATCATG	0.416		NA											False	0	False	15:86118478	0
ABCA3	21	broad.mit.edu	37	16	2334961	2334962	+	In_Frame_Ins	INS	-	-	ACGGAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:2334961_2334962insACGGAG	ENST00000382381.3	-	23	4058_4059	c.3347_3348insCTCCGT	c.(3346-3348)cgg>cgCTCCGTg	p.1116_1117insSV	ABCA3_ENST00000301732.5_In_Frame_Ins_p.1174_1175insSV			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1174					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGTGGCCGTCCCGCGTGAAGGC	0.629		NA											False	0	True	16:2334961	0
ACSM5	54988	broad.mit.edu	37	16	20448624	20448625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448624_20448625insT	ENST00000331849.4	+	12	1618_1619	c.1471_1472insT	c.(1471-1473)ctgfs	p.L491fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	491					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAAAGTGCCCTGGCAGAGCAT	0.564		NA											False	1	True	16:20448624	0
ACSM5	54988	broad.mit.edu	37	16	20448626	20448627	+	Frame_Shift_Ins	INS	-	-	TTCTGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448626_20448627insTTCTGAT	ENST00000331849.4	+	12	1620_1621	c.1473_1474insTTCTGAT	c.(1474-1476)gcafs	p.A492fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	492					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAAGTGCCCTGGCAGAGCATCC	0.559		NA											False	0	False	16:20448626	0
ITGAM	3684	broad.mit.edu	37	16	31332934	31332935	+	In_Frame_Ins	INS	-	-	CCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332934_31332935insCCT	ENST00000544665.3	+	16	2062_2063	c.1991_1992insCCT	c.(1990-1995)gatcgg>gaCCTtcgg	p.664_665DR>DLR	ITGAM_ENST00000287497.8_In_Frame_Ins_p.663_664DR>DLR	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	663					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGCACACGGGATCGGCTAAGAG	0.53		NA											False	0	False	16:31332934	0
ITGAM	3684	broad.mit.edu	37	16	31332936	31332937	+	Frame_Shift_Ins	INS	-	-	AAACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332936_31332937insAAACA	ENST00000544665.3	+	16	2064_2065	c.1993_1994insAAACA	c.(1993-1995)cggfs	p.R665fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.R664fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGAA	0.53		NA											False	0	False	16:31332936	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
TUBB8P7	0	broad.mit.edu	37	16	90160897	90160898	+	RNA	INS	-	-	GCG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:90160897_90160898insGCG	ENST00000564451.1	+	0	848_849				TUBB8P7_ENST00000567960.1_RNA						NA											NA						CTCCTGGGAACGCGGCCCTCCC	0.728		NA											False	1	False	16:90160897	0
ZNF18	7566	broad.mit.edu	37	17	11881333	11881334	+	Frame_Shift_Ins	INS	-	-	TCAAGAGGAATTGTGTCTAAGAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:11881333_11881334insTCAAGAGGAATTGTGTCTAAGAG	ENST00000322748.3	-	9	2194_2195	c.1590_1591insCTCTTAGACACAATTCCTCTTGA	c.(1588-1593)agctggfs	p.W531fs	ZNF18_ENST00000580306.1_Frame_Shift_Ins_p.W531fs|ZNF18_ENST00000454073.3_Frame_Shift_Ins_p.W530fs|ZNF18_ENST00000580613.1_3'UTR	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	531					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCGAGCTCCAGCTGAAACTTT	0.426		NA											False	0	False	17:11881333	0
NCOR1	9611	broad.mit.edu	37	17	15961041	15961042	+	Frame_Shift_Ins	INS	-	-	GACAAATCCAGGGGAAGGTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15961041_15961042insGACAAATCCAGGGGAAGGTA	ENST00000268712.3	-	40	6435_6436	c.6178_6179insTACCTTCCCCTGGATTTGTC	c.(6178-6180)acafs	p.T2060fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1957fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.T644fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2060	ID1 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAAATCTTGTGTGATAATTTGC	0.351		NA											False	0	True	17:15961041	0
FAM20B	9917	broad.mit.edu	37	1	179013286	179013287	+	In_Frame_Ins	INS	-	-	ATCTAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179013286_179013287insATCTAA	ENST00000263733.4	+	2	640_641	c.304_305insATCTAA	c.(304-306)ggt>gATCTAAgt	p.102_102G>DLS		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	102						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGCTGATGTGGGTTATAAAGGG	0.485		NA											False	0	True	1:179013286	0
AXDND1	126859	broad.mit.edu	37	1	179414303	179414304	+	Frame_Shift_Ins	INS	-	-	TCTTTTTTCTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179414303_179414304insTCTTTTTTCTC	ENST00000367618.3	+	16	2149_2150	c.1762_1763insTCTTTTTTCTC	c.(1762-1764)tacfs	p.Y588fs	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	588										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						ACAAAAACTCTACAAAGAATAT	0.312		NA											False	0	False	1:179414303	0
EFCAB5	374786	broad.mit.edu	37	17	28405424	28405425	+	Frame_Shift_Ins	INS	-	-	AAATTGTTTTGAAGACAATCTCACTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:28405424_28405425insAAATTGTTTTGAAGACAATCTCACTT	ENST00000394835.3	+	15	3121_3122	c.2929_2930insAAATTGTTTTGAAGACAATCTCACTT	c.(2929-2931)gccfs	p.A977fs	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.A853fs	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	977							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						GAGGAATTCTGCCAGGCGGAAA	0.495		NA											False	0	False	17:28405424	0
C17orf75	64149	broad.mit.edu	37	17	30665340	30665341	+	In_Frame_Ins	INS	-	-	GTGGAAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:30665340_30665341insGTGGAAGAA	ENST00000577809.1	-	4	426_427	c.377_378insTTCTTCCAC	c.(376-378)tac>taTTCTTCCACc	p.126_127insSST	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_In_Frame_Ins_p.126_127insSST	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	126					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGAAAAGGCAGTAATAACAACC	0.356		NA											False	0	False	17:30665340	0
GGNBP2	79893	broad.mit.edu	37	17	34937916	34937917	+	In_Frame_Ins	INS	-	-	ATATTGGTCAGAACTTCTTTTCTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:34937916_34937917insATATTGGTCAGAACTTCTTTTCTT	ENST00000304718.4	+	9	1479_1480	c.1163_1164insATATTGGTCAGAACTTCTTTTCTT	c.(1162-1167)gatatt>gaATATTGGTCAGAACTTCTTTTCTTtatt	p.388_388D>EYWSELLFF		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	388					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTGTGTGTGATATTCCTACTC	0.356		NA											False	0	False	17:34937916	0
HELZ	9931	broad.mit.edu	37	17	65103457	65103458	+	In_Frame_Ins	INS	-	-	GAAAAATATCAGTATTTATTGATTTGATAATAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:65103457_65103458insGAAAAATATCAGTATTTATTGATTTGATAATAG	ENST00000358691.5	-	31	5234_5235	c.5068_5069insCTATTATCAAATCAATAAATACTGATATTTTTC	c.(5068-5070)cag>cCTATTATCAAATCAATAAATACTGATATTTTTCag	p.1689_1690insPIIKSINTDIF	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691insPIIKSINTDIF	NM_014877.3	NP_055692.2			helicase with zinc finger	NA										NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGGTGATTCTGTTGCAAGTTA	0.485		NA											False	0	False	17:65103457	0
ABCA6	23460	broad.mit.edu	37	17	67121170	67121171	+	Frame_Shift_Ins	INS	-	-	TTCTCTGTCCTCTACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:67121170_67121171insTTCTCTGTCCTCTACA	ENST00000284425.2	-	9	1299_1300	c.1125_1126insTGTAGAGGACAGAGAA	c.(1123-1128)atcaaafs	p.IK375fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	375					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAATCCAGTTTGATAATCTAAG	0.267		NA											False	0	True	17:67121170	0
QRICH2	84074	broad.mit.edu	37	17	74288565	74288567	+	In_Frame_Del	DEL	TGA	TGA	-	rs35035566		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:74288565_74288567delTGA	ENST00000262765.5	-	4	1922_1924	c.1743_1745delTCA	c.(1741-1746)catcag>cag	p.H581del		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	581	Gln-rich.						protein binding	p.H581Q(5)|p.Q582R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAACCACGCTGATGATCTGCAC	0.537		NA											False	2	False	17:74288565	0
USP36	57602	broad.mit.edu	37	17	76802360	76802361	+	In_Frame_Ins	INS	-	-	ACAGACAAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:76802360_76802361insACAGACAAA	ENST00000542802.2	-	15	2536_2537	c.2093_2094insTTTGTCTGT	c.(2092-2094)acc>acTTTGTCTGTc	p.698_699insLSV	USP36_ENST00000312010.6_In_Frame_Ins_p.698_699insLSV|USP36_ENST00000449938.2_In_Frame_Ins_p.398_399insLSV			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	698					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCCTCCACAGGGTGCTGGCCTG	0.5		NA											False	0	True	17:76802360	0
PHLPP1	23239	broad.mit.edu	37	18	60639855	60639856	+	Frame_Shift_Ins	INS	-	-	TTATTTCAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr18:60639855_60639856insTTATTTCAAG	ENST00000262719.5	+	15	3903_3904	c.3669_3670insTTATTTCAAG	c.(3670-3672)actfs	p.T1224fs	PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.T712fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1224	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTCTCCAGTGCACTATGAGTGA	0.455		NA											False	0	False	18:60639855	0
CYB5R1	51706	broad.mit.edu	37	1	202931786	202931789	+	Frame_Shift_Del	DEL	GGAT	GGAT	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GGAT	GGAT	-	-	GGAT	GGAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:202931786_202931789delGGAT	ENST00000367249.4	-	9	858_861	c.784_787delATCC	c.(784-789)atccggfs	p.IR262fs	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	262					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGTGTTCCCGGATCATGTCGGCA	0.559		NA											False	1	False	1:202931786	0
PODNL1	79883	broad.mit.edu	37	19	14047267	14047268	+	In_Frame_Ins	INS	-	-	CCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14047267_14047268insCCC	ENST00000538517.2	-	3	490_491	c.246_247insGGG	c.(244-249)aaccag>aacGGGcag	p.82_83NQ>NGQ	PODNL1_ENST00000339560.5_In_Frame_Ins_p.84_85NQ>NGQ|PODNL1_ENST00000254320.3_In_Frame_Ins_p.24_25insG|PODNL1_ENST00000538371.2_In_Frame_Ins_p.82_83NQ>NGQ	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	155	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TCCTGGAGCTGGTTGTTCTGCA	0.589		NA											False	0	False	19:14047267	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
EPHX3	79852	broad.mit.edu	37	19	15342180	15342181	+	Frame_Shift_Ins	INS	-	-	CTACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:15342180_15342181insCTACT	ENST00000221730.3	-	3	576_577	c.356_357insAGTAG	c.(355-357)gagfs	p.-119fs	EPHX3_ENST00000435261.1_Frame_Shift_Ins_p.-119fs|EPHX3_ENST00000602233.1_Frame_Shift_Ins_p.-119fs	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	NA						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCTCTGGAACTCCCGGAGCTG	0.634		NA											False	0	True	19:15342180	0
CAPN12	147968	broad.mit.edu	37	19	39224373	39224393	+	In_Frame_Del	DEL	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-	-	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:39224373_39224393delAGGAGTTCATGGTTCCAGAGG	ENST00000328867.4	-	18	2215_2235	c.1907_1927delCCTCTGGAACCATGAACTCCT	c.(1906-1929)acctctggaaccatgaactcctac>aac	p.636_643TSGTMNSY>N	CAPN12_ENST00000601953.1_In_Frame_Del_p.487_494TSGTMNSY>N	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	636	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCAGCTCGTAGGAGTTCATGGTTCCAGAGGTGTCCTCATC	0.588		NA											False	1	False	19:39224373	0
C4BPB	725	broad.mit.edu	37	1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:207265131_207265132insTGAAGAAGAA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45		NA											False	0	False	1:207265131	0
DEFB132	400830	broad.mit.edu	37	20	238436	238441	+	In_Frame_Del	DEL	TGGTCT	TGGTCT	-	rs66489228		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGGTCT	TGGTCT	-	-	TGGTCT	TGGTCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:238436_238441delTGGTCT	ENST00000382376.3	+	1	60_65	c.17_22delTGGTCT	c.(16-24)ctggtcttg>ctg	p.6_8LVL>L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	6					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTCCTGCTCCTGGTCTTGGCAGCCCT	0.515		NA											False	1	False	20:238436	0
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446		NA											False	0	True	20:20007556	0
NAA20	51126	broad.mit.edu	37	20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446		NA											False	0	False	20:20007557	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
NRIP1	8204	broad.mit.edu	37	21	16338953	16338954	+	Frame_Shift_Ins	INS	-	-	TGAAAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:16338953_16338954insTGAAAAG	ENST00000400202.1	-	3	2272_2273	c.1560_1561insCTTTTCA	c.(1558-1563)cagggafs	p.G521fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.G521fs|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.G521fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	521	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGTGTACTCCCTGAGGGCTGG	0.401		NA											False	0	True	21:16338953	0
AF064858.6	0	broad.mit.edu	37	21	40250763	40250763	+	RNA	DEL	A	A	-	rs5843936		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:40250763delA	ENST00000380931.2	-	0	2274										NA											NA						GGTGCAATTGAGAGGAAATTG	0.378		NA											False	1	False	21:40250763	0
YBEY	54059	broad.mit.edu	37	21	47706979	47706980	+	In_Frame_Ins	INS	-	-	AAATGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:47706979_47706980insAAATGT	ENST00000329319.3	+	2	550_551	c.152_153insAAATGT	c.(151-156)aataga>aaAAATGTtaga	p.51_51N>KNV	YBEY_ENST00000397701.4_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397691.1_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000339195.6_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397692.1_Intron	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	51							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						CAGCACATTAATAGAATCTACA	0.391		NA											False	0	False	21:47706979	0
ZNF678	339500	broad.mit.edu	37	1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:227842194_227842195insATAAAAATAAAAAGT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGT	c.(244-246)tat>ATAAAAATAAAAAGTtat	p.81_82insIKIKS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386		NA											False	0	True	1:227842194	0
EFCAB6	64800	broad.mit.edu	37	22	44112751	44112752	+	In_Frame_Ins	INS	-	-	AACAGCAATACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr22:44112751_44112752insAACAGCAATACA	ENST00000262726.7	-	9	1111_1112	c.858_859insTGTATTGCTGTT	c.(856-861)gaaatt>gaaTGTATTGCTGTTatt	p.286_287EI>ECIAVI	EFCAB6_ENST00000358439.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000356087.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000396231.2_In_Frame_Ins_p.134_135EI>ECIAVI	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTCTCAATTTCATCCAAGG	0.371		NA											False	0	True	22:44112751	0
PPEF1	5475	broad.mit.edu	37	X	18842176	18842177	+	In_Frame_Ins	INS	-	-	AGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:18842176_18842177insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	ENST00000361511.4	+	17	2131_2132	c.1637_1638insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	c.(1636-1641)aatatc>aaAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGTtatc	p.546_546N>KVFLTTTITKPK*FV	PPEF1_ENST00000544635.1_In_Frame_Ins_p.481_481N>KVFLTTTITKPK*FV|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_In_Frame_Ins_p.493_493N>KVFLTTTITKPK*FV|PPEF1_ENST00000349874.5_In_Frame_Ins_p.484_484N>KVFLTTTITKPK*FV	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	546					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCTTCCAGAATATCCGCATTG	0.431		NA											False	0	False	X:18842176	0
USP9X	8239	broad.mit.edu	37	X	41089009	41089010	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41089009_41089010insAAAATAAAAC	ENST00000324545.7	+	43	8041_8042	c.7408_7409insAAAATAAAAC	c.(7408-7410)gctfs	p.A2470fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.A2470fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2470					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGCAAAAGCTTGTGAACTC	0.411		NA											False	0	False	X:41089009	0
DDX3X	1654	broad.mit.edu	37	X	41206636	41206637	+	In_Frame_Ins	INS	-	-	CCATATTTTCCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41206636_41206637insCCATATTTTCCC	ENST00000399959.2	+	16	2696_2697	c.1841_1842insCCATATTTTCCC	c.(1840-1845)agcagc>agCCATATTTTCCCcagc	p.614_615SS>SHIFPS	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_In_Frame_Ins_p.598_599SS>SHIFPS|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	614	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						tccagcttcagcagcagccgcg	0.51		NA								HNSCC(61;0.18)			False	0	True	X:41206636	0
EDA	1896	broad.mit.edu	37	X	69253319	69253320	+	In_Frame_Ins	INS	-	-	TATCCCAGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:69253319_69253320insTATCCCAGT	ENST00000374552.4	+	7	1107_1108	c.865_866insTATCCCAGT	c.(865-867)cgc>cTATCCCAGTgc	p.289_289R>LSQC	EDA_ENST00000524573.1_In_Frame_Ins_p.286_286R>LSQC|EDA_ENST00000374553.2_In_Frame_Ins_p.289_289R>LSQC	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGAG	0.5		NA									OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	X:69253319	0
NAP1L2	4674	broad.mit.edu	37	X	72433902	72433903	+	Frame_Shift_Ins	INS	-	-	GAATATGTGGATGAGGACGATGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:72433902_72433903insGAATATGTGGATGAGGACGATGG	ENST00000373517.3	-	1	781_782	c.426_427insCCATCGTCCTCATCCACATATTC	c.(424-429)gaaatgfs	p.M143fs	NAP1L2_ENST00000536638.1_Start_Codon_Ins	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	143					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGTTGGTACATTTCAGCAAACT	0.386		NA											False	0	True	X:72433902	0
XIST	0	broad.mit.edu	37	X	73068761	73068762	+	RNA	INS	-	-	TAAACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:73068761_73068762insTAAACA	ENST00000429829.1	-	0	3826_3827					NR_001564.2					NA											NA						GGGTCTTCTCTGTTACGCAGAA	0.386		NA											False	0	False	X:73068761	0
XIST	0	broad.mit.edu	37	X	73068763	73068764	+	RNA	INS	-	-	TGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:73068763_73068764insTGA	ENST00000429829.1	-	0	3824_3825					NR_001564.2					NA											NA						GTCTTCTCTGTTACGCAGAACC	0.391		NA											False	0	False	X:73068763	0
ABCD1	215	broad.mit.edu	37	X	153001873	153001887	+	In_Frame_Del	DEL	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-	-	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:153001873_153001887delCTTCAAGAGGCCCAG	ENST00000218104.3	+	4	1698_1712	c.1299_1313delCTTCAAGAGGCCCAG	c.(1297-1314)cacttcaagaggcccagg>cag	p.433_438HFKRPR>Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	433					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAG	0.628		NA											False	1	False	X:153001873	0
VPS13D	55187	broad.mit.edu	37	1	12409419	12409420	+	Frame_Shift_Ins	INS	-	-	GGTTAACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:12409419_12409420insGGTTAACA	ENST00000358136.3	+	46	9549_9550	c.9419_9420insGGTTAACA	c.(9418-9423)agccgafs	p.SR3140fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.SR3115fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3139					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGAAAAAAGCCGATTTTTCA	0.386		NA											False	0	False	1:12409419	0
OR2T27	403239	broad.mit.edu	37	1	248813651	248813653	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:248813651_248813653delAGA	ENST00000344889.3	-	1	532_534	c.533_535delTCT	c.(532-537)ttctgc>tgc	p.F178del		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCACCTCGCAGAAGAAGTGGTT	0.567		NA											False	2	False	1:248813651	0
IL9R	3581	broad.mit.edu	37	X	155231143	155231143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:155231143delT	ENST00000369423.2	+	2	153	c.115delT	c.(115-117)ttcfs	p.F39fs	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Frame_Shift_Del_p.F29fs|IL9R_ENST00000424344.3_5'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCTGGTGGTTCCAGGCTGC	0.547		NA											False	2	False	X:155231143	0
HEATR5B	54497	broad.mit.edu	37	2	37229645	37229646	+	Frame_Shift_Ins	INS	-	-	TCCCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:37229645_37229646insTCCCTTT	ENST00000233099.5	-	32	5215_5216	c.5120_5121insAAAGGGA	c.(5119-5121)cctfs	p.-1707fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	NA							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGATTTTCCAGGAATGAGACC	0.436		NA											False	0	False	2:37229645	0
USP34	9736	broad.mit.edu	37	2	61416172	61416173	+	Frame_Shift_Ins	INS	-	-	GTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416172_61416173insGTTC	ENST00000398571.2	-	79	9981_9982	c.9905_9906insGAAC	c.(9904-9906)gtafs	p.-3302fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	NA					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGGAGTGTGTACTGACAGGAG	0.431		NA											False	0	True	2:61416172	0
USP34	9736	broad.mit.edu	37	2	61416173	61416174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416173_61416174insG	ENST00000398571.2	-	79	9980_9981	c.9904_9905insC	c.(9904-9906)gtafs	p.V3302fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3302					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGGAGTGTGTACTGACAGGAGC	0.426		NA											False	0	False	2:61416173	0
C2orf27A	29798	broad.mit.edu	37	2	132480101	132480102	+	Translation_Start_Site	INS	-	-	GAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:132480101_132480102insGAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG	ENST00000355171.4	+	0	154_155					NM_013310.3	NP_037442.3	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27A	NA										kidney(1)	1						TCAAGCAGAAATAGGGAGCATG	0.386		NA											False	0	True	2:132480101	0
CPS1	1373	broad.mit.edu	37	2	211421452	211421453	+	In_Frame_Ins	INS	-	-	TCT	rs61509952	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:211421452_211421453insTCT	ENST00000430249.2	+	2	68_69	c.13_14insTCT	c.(13-15)atc>aTCTtc	p.5_6insF	CPS1_ENST00000233072.5_5'UTR	NM_001122633.2	NP_001116105.1	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACAAATCATCAAAATGACG	0.347		NA											False	0	False	2:211421452	0
SEPT2	4735	broad.mit.edu	37	2	242283288	242283289	+	In_Frame_Ins	INS	-	-	AACACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:242283288_242283289insAACACA	ENST00000391973.2	+	9	1346_1347	c.818_819insAACACA	c.(817-822)tttctg>ttAACACAtctg	p.273_273F>LTH	SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTH|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTH|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTH	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	273					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAATGACTTTCTGAAGCTGA	0.49		NA											False	0	True	2:242283288	0
GOLGA4	2803	broad.mit.edu	37	3	37367990	37367991	+	In_Frame_Ins	INS	-	-	AATCAAATCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:37367990_37367991insAATCAAATCTTT	ENST00000361924.2	+	14	4987_4988	c.4613_4614insAATCAAATCTTT	c.(4612-4617)actatt>acAATCAAATCTTTtatt	p.1539_1540insKSFI	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Ins_p.1561_1562insKSFI	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1539	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCCAGAAAACTATTGAAATAG	0.312		NA											False	0	False	3:37367990	0
IFT57	55081	broad.mit.edu	37	3	107925522	107925523	+	Frame_Shift_Ins	INS	-	-	CTATATATAAAATGTTATAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:107925522_107925523insCTATATATAAAATGTTATAA	ENST00000264538.3	-	5	853_854	c.606_607insTTATAACATTTTATATATAG	c.(604-609)gaagaafs	p.E203fs		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	203					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.E203*(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATAAAGTTTTCTTCATTATCTG	0.277		NA											False	0	False	3:107925522	0
MYLK	4638	broad.mit.edu	37	3	123419117	123419119	+	In_Frame_Del	DEL	TTC	TTC	-	rs75967604		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:123419117_123419119delTTC	ENST00000360772.3	-	19	3574_3576	c.3196_3198delGAA	c.(3196-3198)gaadel	p.E1066del	MYLK_ENST00000475616.1_In_Frame_Del_p.E1066del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTTCTTGAGTTCTTCTTTGCTA	0.527		NA											False	2	False	3:123419117	0
COL6A6	131873	broad.mit.edu	37	3	130300843	130300844	+	Frame_Shift_Ins	INS	-	-	AACTGTTATATCCTTCAGGC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130300843_130300844insAACTGTTATATCCTTCAGGC	ENST00000358511.6	+	9	3932_3933	c.3901_3902insAACTGTTATATCCTTCAGGC	c.(3901-3903)ttafs	p.L1301fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.L1301fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1301	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGGTCCTTTTATTTTCAGAT	0.337		NA											False	0	True	3:130300843	0
ATP2C1	27032	broad.mit.edu	37	3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130672697_130672698insTATCAAA	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAA	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431		NA							Hailey-Hailey disease				False	0	False	3:130672697	0
DNAJC13	23317	broad.mit.edu	37	3	132242460	132242461	+	Frame_Shift_Ins	INS	-	-	GAAGCTAGAAATGCACACCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:132242460_132242461insGAAGCTAGAAATGCACACCA	ENST00000260818.6	+	51	6211_6212	c.5963_5964insGAAGCTAGAAATGCACACCA	c.(5962-5967)tttattfs	p.F1988fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1988							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGAGGATCTTTATTGCACAAC	0.411		NA											False	0	True	3:132242460	0
ZBBX	79740	broad.mit.edu	37	3	167000284	167000285	+	Splice_Site	INS	-	-	AGAATGAGCTTTCCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:167000284_167000285insAGAATGAGCTTTCCT	ENST00000392766.2	-	19	2220		c.e19-1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	NA						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GATTTCTGACCTAAAATTAAAA	0.342		NA											False	0	True	3:167000284	0
VPS8	23355	broad.mit.edu	37	3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000436792.2	+	2	226_227	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs			Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351		NA											False	0	False	3:184542503	0
ATP10D	57205	broad.mit.edu	37	4	47574988	47574989	+	Frame_Shift_Ins	INS	-	-	ATGAAAATCAGTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:47574988_47574989insATGAAAATCAGTT	ENST00000273859.3	+	18	3609_3610	c.3340_3341insATGAAAATCAGTT	c.(3340-3342)attfs	p.I1114fs		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1114					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCCAACATGATTCTCTATTTT	0.446		NA											False	0	False	4:47574988	0
SLC4A4	8671	broad.mit.edu	37	4	72338763	72338764	+	In_Frame_Ins	INS	-	-	TTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338763_72338764insTTG	ENST00000512686.1	+	11	2043_2044	c.1847_1848insTTG	c.(1846-1851)tcaaca>tcTTGaaca	p.616_617ST>S*T	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCAAATTTTCAACATGCTGTC	0.431		NA											False	0	False	4:72338763	0
SLC4A4	8671	broad.mit.edu	37	4	72338765	72338766	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338765_72338766insAG	ENST00000512686.1	+	11	2045_2046	c.1849_1850insAG	c.(1849-1851)acafs	p.T617fs	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAAATTTTCAACATGCTGTCAT	0.426		NA											False	0	False	4:72338765	0
TBCK	93627	broad.mit.edu	37	4	107114909	107114910	+	Frame_Shift_Ins	INS	-	-	GACTATGAAATAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:107114909_107114910insGACTATGAAATAA	ENST00000273980.4	-	23	2362_2363	c.1915_1916insTTATTTCATAGTC	c.(1915-1917)aaafs	p.K639fs	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Frame_Shift_Ins_p.K576fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.K639fs|TBCK_ENST00000394706.3_Frame_Shift_Ins_p.K600fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.K639fs			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	639	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTGGAAAATTTTGTGTAGTGGA	0.337		NA											False	0	True	4:107114909	0
C5orf42	65250	broad.mit.edu	37	5	37169171	37169172	+	Frame_Shift_Ins	INS	-	-	CAGAAGAAAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:37169171_37169172insCAGAAGAAAGA	ENST00000508244.1	-	33	7047_7048	c.6954_6955insTCTTTCTTCTG	c.(6952-6957)gatcaafs	p.Q2319fs	C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.Q1199fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.Q2319fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2319										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAACATATTGATCCAAGTTCA	0.371		NA											False	0	False	5:37169171	0
SLC38A9	153129	broad.mit.edu	37	5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929718_54929719insTAAA	ENST00000512595.1	-	12	1279_1280	c.1104_1105insTTTA	c.(1102-1107)gacaacfs	p.N369fs	SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386		NA											False	0	False	5:54929718	0
SLC38A9	153129	broad.mit.edu	37	5	54929719	54929720	+	In_Frame_Ins	INS	-	-	TGTGACTGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929719_54929720insTGTGACTGA	ENST00000512595.1	-	12	1278_1279	c.1103_1104insTCAGTCACA	c.(1102-1104)gac>gaTCAGTCACAc	p.368_369insQSH	SLC38A9_ENST00000515629.1_In_Frame_Ins_p.368_369insQSH|SLC38A9_ENST00000416547.2_In_Frame_Ins_p.307_308insQSH|SLC38A9_ENST00000396865.2_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000318672.3_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000539768.1_3'UTR	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGGAAGTTGTCTAAAAAATT	0.391		NA											False	0	False	5:54929719	0
IL31RA	133396	broad.mit.edu	37	5	55164724	55164725	+	Frame_Shift_Ins	INS	-	-	AAATATTGCCAGCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:55164724_55164725insAAATATTGCCAGCA	ENST00000396834.1	+	5	699_700	c.203_204insAAATATTGCCAGCA	c.(202-207)gttaagfs	p.K69fs	IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000359040.5_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000447346.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000396836.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000354961.4_Frame_Shift_Ins_p.K69fs	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	56	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGTACACAGTTAAGAGAACTT	0.431		NA											False	0	False	5:55164724	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
CMYA5	202333	broad.mit.edu	37	5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACATAACCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:79025540_79025541insATTTCTTTAATTACATAACCC	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACATAACCC	c.(952-954)ttc>tATTTCTTTAATTACATAACCCtc	p.318_318F>YFFNYITL		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431		NA											False	0	False	5:79025540	0
MEF2C	4208	broad.mit.edu	37	5	88047851	88047852	+	Translation_Start_Site	INS	-	-	AACCATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:88047851_88047852insAACCATT	ENST00000503554.1	-	0	356_357				MEF2C_ENST00000424173.2_Frame_Shift_Ins_p.P136fs|MEF2C_ENST00000510942.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000437473.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000340208.5_Frame_Shift_Ins_p.P156fs|MEF2C_ENST00000508569.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000506554.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514028.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000504921.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514015.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000539796.1_Frame_Shift_Ins_p.P90fs			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	NA					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AAGTTGGGAGGTGGAACAGCCT	0.45		NA								HNSCC(66;0.2)			False	0	False	5:88047851	0
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441		NA											False	0	False	5:90086832	0
GPR98	84059	broad.mit.edu	37	5	90149273	90149274	+	Frame_Shift_Ins	INS	-	-	TTTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90149273_90149274insTTTG	ENST00000405460.2	+	80	17473_17474	c.17377_17378insTTTG	c.(17377-17379)aaafs	p.K5793fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.K1454fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5793					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTACATGTAAATTAGTCCAG	0.376		NA											False	0	True	5:90149273	0
MAN2A1	4124	broad.mit.edu	37	5	109190936	109190938	+	In_Frame_Del	DEL	CTC	CTC	-	rs72545030		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:109190936_109190938delCTC	ENST00000261483.4	+	20	4124_4126	c.3072_3074delCTC	c.(3070-3075)ttctcc>ttc	p.S1026del	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1026				Missing (in Ref. 2; BAA10017).	mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAAATAAGTTCTCCTCACCTACC	0.404		NA											False	2	False	5:109190936	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
WDR36	134430	broad.mit.edu	37	5	110428230	110428230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:110428230delG	ENST00000513710.2	+	1	248	c.244delG	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000506538.2_Frame_Shift_Del_p.D82fs|WDR36_ENST00000505303.1_Frame_Shift_Del_p.D26fs			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCAGCAACGACATTCCACA	0.597		NA											False	1	False	5:110428230	0
HMMR	3161	broad.mit.edu	37	5	162902670	162902671	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:162902670_162902671insAA	ENST00000416990.2	+	11	1412_1413	c.915_916insAA	c.(916-918)ctgfs	p.L306fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.L334fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.L421fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.L405fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.L420fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	420						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAGAAGAAAAGCTGAAAGGGTT	0.337		NA											False	0	False	5:162902670	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
TXNDC5	81567	broad.mit.edu	37	6	7886278	7886279	+	Splice_Site	INS	-	-	TCAGAC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7886278_7886279insTCAGAC	ENST00000379757.4	-	8	1001		c.e8-2		BLOC1S5-TXNDC5_ENST00000539054.1_Splice_Site|TXNDC5_ENST00000473453.1_Splice_Site|BLOC1S5-TXNDC5_ENST00000604490.1_Splice_Site	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	NA					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CACAGTGCCCTTCAAGGGAGGA	0.411		NA											False	0	False	6:7886278	0
CCHCR1	54535	broad.mit.edu	37	6	31124720	31124721	+	Splice_Site	INS	-	-	TAAACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:31124720_31124721insTAAACT	ENST00000396268.3	-	3	472_473	c.284_285insAGTTTA	c.(283-285)ggt>ggAGTTTAt	p.95_96insVY	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Splice_Site_p.6_7insVY|CCHCR1_ENST00000396263.2_Splice_Site_p.6_7insVY	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	6					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGTGGAACCTGAAGAATT	0.54		NA											False	0	False	6:31124720	0
BEND6	221336	broad.mit.edu	37	6	56882101	56882102	+	Frame_Shift_Ins	INS	-	-	ATGTCAACATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:56882101_56882102insATGTCAACATT	ENST00000370746.3	+	5	885_886	c.616_617insATGTCAACATT	c.(616-618)atgfs	p.M206fs	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Frame_Shift_Ins_p.M108fs|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	206	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAATGAATACATGGCCACTCAC	0.391		NA											False	0	False	6:56882101	0
PHF3	23469	broad.mit.edu	37	6	64404614	64404615	+	In_Frame_Ins	INS	-	-	TTGTTTTTTAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:64404614_64404615insTTGTTTTTTAAG	ENST00000262043.3	+	6	2980_2981	c.2640_2641insTTGTTTTTTAAG	c.(2641-2643)aca>TTGTTTTTTAAGaca	p.880_881insLFFK	PHF3_ENST00000393387.1_In_Frame_Ins_p.880_881insLFFK			Q92576	PHF3_HUMAN	PHD finger protein 3	880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CGAAAGAGTCTACAACTGTTAC	0.327		NA											False	0	False	6:64404614	0
KPNA5	3841	broad.mit.edu	37	6	117010618	117010619	+	Splice_Site	INS	-	-	CAACAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117010618_117010619insCAACAA	ENST00000368564.1	+	2	286		c.e2+2		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	NA					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAGAACAGGTAGGTGTTTTTA	0.257		NA											False	0	True	6:117010618	0
GPRC6A	0	broad.mit.edu	37	6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-	rs78807485		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302		NA											False	1	False	6:117116998	0
MOXD1	26002	broad.mit.edu	37	6	132695878	132695879	+	Frame_Shift_Ins	INS	-	-	TCTTTAAAGAATAAGAGAAACAAGTCATATAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:132695878_132695879insTCTTTAAAGAATAAGAGAAACAAGTCATATAG	ENST00000367963.3	-	2	420_421	c.302_303insCTATATGACTTGTTTCTCTTATTCTTTAAAGA	c.(301-303)gatfs	p.-101fs	MOXD1_ENST00000336749.3_Frame_Shift_Ins_p.-33fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	NA					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTTGCTGAGCATCTTTTTTCAA	0.327		NA											False	0	False	6:132695878	0
LTV1	84946	broad.mit.edu	37	6	144184385	144184386	+	Frame_Shift_Ins	INS	-	-	TTCGAATTTGTTTGGGCTGAAATACAGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:144184385_144184386insTTCGAATTTGTTTGGGCTGAAATACAGAT	ENST00000367576.5	+	10	1413_1414	c.1279_1280insTTCGAATTTGTTTGGGCTGAAATACAGAT	c.(1279-1281)aaafs	p.K427fs		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	427										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CAAAGAAGATAAAAGAGCAAGA	0.356		NA											False	0	True	6:144184385	0
AKAP12	9590	broad.mit.edu	37	6	151670330	151670332	+	In_Frame_Del	DEL	AGG	AGG	-	rs111653642		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:151670330_151670332delAGG	ENST00000253332.1	+	3	993_995	c.804_806delAGG	c.(802-807)gaagga>gaa	p.G269del	AKAP12_ENST00000354675.6_In_Frame_Del_p.G171del|AKAP12_ENST00000359755.5_In_Frame_Del_p.G164del|AKAP12_ENST00000402676.2_In_Frame_Del_p.G269del			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	269	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCAAAGAGGAAGGAGAAGAGAAA	0.478		NA											False	1	True	6:151670330	0
CCDC170	80129	broad.mit.edu	37	6	151869618	151869619	+	In_Frame_Ins	INS	-	-	TCCTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:151869618_151869619insTCCTAT	ENST00000239374.7	+	5	867_868	c.768_769insTCCTAT	c.(769-771)aac>TCCTATaac	p.256_257insSY	CCDC170_ENST00000367290.5_In_Frame_Ins_p.256_257insSY	NM_025059.3	NP_079335.2	Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	256											NA						AAGAGAAGCTGAACCAGGTATG	0.446		NA											False	0	False	6:151869618	0
LPA	4018	broad.mit.edu	37	6	161020669	161020670	+	Frame_Shift_Ins	INS	-	-	ATAAGCGAAGGAAGGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	ENST00000316300.5	-	20	3193_3194	c.3149_3150insCCCTTCCTTCGCTTAT	c.(3148-3150)gggfs	p.-1050fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)	NA					blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGTACCCCGGGGGTTTC	0.436		NA											False	0	True	6:161020669	0
PLG	5340	broad.mit.edu	37	6	161174080	161174083	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGAG	TGAG	-	-	TGAG	TGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161174080_161174083delTGAG	ENST00000308192.9	+	19	2483_2486	c.2420_2423delTGAG	c.(2419-2424)atgagafs	p.MR807fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	807	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGGGAGTGATGAGAAATAATTAA	0.471		NA											False	1	False	6:161174080	0
MPP6	51678	broad.mit.edu	37	7	24690269	24690270	+	Frame_Shift_Ins	INS	-	-	AGAAACAGATTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:24690269_24690270insAGAAACAGATTTC	ENST00000396475.2	+	6	888_889	c.589_590insAGAAACAGATTTC	c.(589-591)attfs	p.I197fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.I85fs|MPP6_ENST00000222644.4_Frame_Shift_Ins_p.I197fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	197	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACTGAAAAATATTAGTGGAAGT	0.317		NA											False	0	False	7:24690269	0
STEAP4	79689	broad.mit.edu	37	7	87910338	87910339	+	Frame_Shift_Ins	INS	-	-	TTAAAAATTCAAATTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:87910338_87910339insTTAAAAATTCAAATTA	ENST00000380079.4	-	4	1141_1142	c.1040_1041insTAATTTGAATTTTTAA	c.(1039-1041)tcafs	p.-347fs	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Ins_p.-171fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	NA					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCCACATATGAATCACTGAG	0.386		NA											False	0	False	7:87910338	0
INADL	10207	broad.mit.edu	37	1	62288675	62288676	+	In_Frame_Ins	INS	-	-	AAATCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:62288675_62288676insAAATCC	ENST00000371158.2	+	15	1856_1857	c.1742_1743insAAATCC	c.(1741-1746)cattat>caAAATCCttat	p.581_581H>QNP	INADL_ENST00000316485.6_In_Frame_Ins_p.581_581H>QNP	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	581	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.H581R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGGGCACCATTATATTTCTT	0.426		NA											False	0	False	1:62288675	0
AK4	205	broad.mit.edu	37	1	65684525	65684526	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:65684525_65684526insTTTT	ENST00000327299.7	+	3	559_560	c.354_355insTTTT	c.(355-357)cttfs	p.L119fs	AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs|AK4_ENST00000470888.2_3'UTR	NM_013410.3	NP_037542.1	P27144	KAD4_HUMAN	adenylate kinase 4	119						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						CATTTGAAACACTTAAAGATCG	0.421		NA											False	0	False	1:65684525	0
AK4	205	broad.mit.edu	37	1	65684526	65684527	+	Frame_Shift_Ins	INS	-	-	AGTGACAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:65684526_65684527insAGTGACAGAA	ENST00000327299.7	+	3	560_561	c.355_356insAGTGACAGAA	c.(355-357)cttfs	p.L119fs	AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs|AK4_ENST00000470888.2_3'UTR	NM_013410.3	NP_037542.1	P27144	KAD4_HUMAN	adenylate kinase 4	119						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						ATTTGAAACACTTAAAGATCGT	0.421		NA											False	0	False	1:65684526	0
SLC26A3	1811	broad.mit.edu	37	7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421		NA											False	0	True	7:107432381	0
LAMB4	22798	broad.mit.edu	37	7	107689949	107689950	+	Frame_Shift_Ins	INS	-	-	ATCCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107689949_107689950insATCCA	ENST00000388781.3	-	27	4026_4027	c.3943_3944insTGGAT	c.(3943-3945)tatfs	p.Y1315fs	LAMB4_ENST00000388780.3_Frame_Shift_Ins_p.Y1315fs|LAMB4_ENST00000205386.4_Frame_Shift_Ins_p.Y1315fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1315	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGATATGTGATAATATTTCTTG	0.277		NA											False	0	False	7:107689949	0
EYA1	2138	broad.mit.edu	37	8	72211376	72211377	+	Frame_Shift_Ins	INS	-	-	ATATTTTCAATGGTTTCAATGCATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:72211376_72211377insATATTTTCAATGGTTTCAATGCATT	ENST00000340726.3	-	9	1370_1371	c.731_732insAATGCATTGAAACCATTGAAAATAT	c.(730-732)aacfs	p.N244fs	EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N243fs|EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N238fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N211fs|EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N244fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N210fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N239fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	244					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTGGGCTGGTGTTGCTGCTGGT	0.495		NA											False	0	False	8:72211376	0
GDAP1	54332	broad.mit.edu	37	8	75275286	75275287	+	In_Frame_Ins	INS	-	-	TTTAAAAAAAATAAATCT	rs121908114		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:75275286_75275287insTTTAAAAAAAATAAATCT	ENST00000220822.7	+	5	772_773	c.692_693insTTTAAAAAAAATAAATCT	c.(691-696)ccagaa>ccTTTAAAAAAAATAAATCTagaa	p.231_232PE>PLKKINLE	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_In_Frame_Ins_p.163_164PE>PLKKINLE	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	231	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAGAAACCCCAGGTAGGTTCT	0.347		NA											False	0	True	8:75275286	0
RUNX1T1	862	broad.mit.edu	37	8	93004024	93004025	+	In_Frame_Ins	INS	-	-	CTGAACTTAACTTGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:93004024_93004025insCTGAACTTAACTTGA	ENST00000523629.1	-	7	1287_1288	c.833_834insTCAAGTTAAGTTCAG	c.(832-834)cca>ccTCAAGTTAAGTTCAGa	p.278_279insQVKFR	RUNX1T1_ENST00000520724.1_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000436581.2_In_Frame_Ins_p.289_290insQVKFR|RUNX1T1_ENST00000422361.2_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000396218.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000265814.3_In_Frame_Ins_p.278_279insQVKFR|RUNX1T1_ENST00000518844.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000360348.2_In_Frame_Ins_p.241_242insQVKFR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	278					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGCCGTTATTTGGACTGTACCG	0.52		NA											False	0	True	8:93004024	0
OXR1	55074	broad.mit.edu	37	8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:107726158_107726159insTAAATCTT	ENST00000517566.2	+	10	2039_2040	c.1901_1902insTAAATCTT	c.(1900-1905)gaggagfs	p.EE634fs	OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs	NM_001198533.1	NP_001185462.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361		NA											False	0	False	8:107726158	0
MTBP	27085	broad.mit.edu	37	8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTTGTTAAGTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:121500556_121500557insATTATCTTGTTAAGTAT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTTGTTAAGTAT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351		NA											False	0	False	8:121500556	0
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Translation_Start_Site	INS	-	-	AAGTTATTGATACTTACTGTCTTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	NA					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327		NA											False	0	False	8:141774449	0
CDKN2A	1029	broad.mit.edu	37	9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	rs104894104		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	-	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	ENST00000479692.2	-	2	193_209	c.179_195delGCCGTCTGCCCGTGGAC	c.(178-195)ggccgtctgcccgtggacfs	p.GRLPVD60fs	CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111			A -> T.|A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	True	9:21971010	0
PRRC2B	84726	broad.mit.edu	37	9	134353997	134353998	+	In_Frame_Ins	INS	-	-	TCTTTCCACTCACCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:134353997_134353998insTCTTTCCACTCACCA	ENST00000405995.1	+	17	2893_2894	c.2667_2668insTCTTTCCACTCACCA	c.(2668-2670)gcc>TCTTTCCACTCACCAgcc	p.889_890insSFHSP	PRRC2B_ENST00000357304.4_In_Frame_Ins_p.1583_1584insSFHSP|PRRC2B_ENST00000458550.1_In_Frame_Ins_p.889_890insSFHSP|PRRC2B_ENST00000372249.1_5'UTR			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1583							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAAGGAGCAGGCCGTGCAGGT	0.629		NA									OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:134353997	0
IL15RA	3601	broad.mit.edu	37	10	6002418	6002419	+	Translation_Start_Site	INS	-	-	TATACCATCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:6002418_6002419insTATACCATCA	ENST00000534292.1	-	0	674_675				IL15RA_ENST00000397250.2_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000397248.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000530685.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000525219.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000379971.1_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000379977.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000528354.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000397255.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000397251.3_Frame_Shift_Ins_p.I100fs			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	NA					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CATGACTGCTTATCTCTGTGGT	0.574		NA											False	0	False	10:6002418	0
DHTKD1	55526	broad.mit.edu	37	10	12143173	12143179	+	Splice_Site	DEL	TTCTAGA	TTCTAGA	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTCTAGA	TTCTAGA	-	-	TTCTAGA	TTCTAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:12143173_12143179delTTCTAGA	ENST00000263035.4	+	10	1951_1957	c.1889_1895delTTCTAGA	c.(1888-1896)tttctagag>tg	p.FLE630fs		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	630					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGAAGGGGTTTCTAGAGGTGAGATGT	0.478		NA											False	1	False	10:12143173	0
CUBN	8029	broad.mit.edu	37	10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107592_17107593insAGCTATA	ENST00000377833.4	-	22	3118_3119	c.3053_3054insTATAGCT	c.(3052-3054)aacfs	p.-1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	NA					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCAATGAGTTACCACTGCT	0.411		NA											False	0	False	10:17107592	0
CUBN	8029	broad.mit.edu	37	10	17107594	17107595	+	Frame_Shift_Ins	INS	-	-	TAGAATA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107594_17107595insTAGAATA	ENST00000377833.4	-	22	3116_3117	c.3051_3052insTATTCTA	c.(3049-3054)ggtaacfs	p.N1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1018	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAATGAGTTACCACTGCTTG	0.416		NA											False	0	False	10:17107594	0
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000523483.1	+	7	1986	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000260130.4_Missense_Mutation_p.V138F			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	138	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378		NA											False	0	True	8:59490601	0
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	462					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438		NA											False	0	False	3:130452457	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T	rs68140816		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7579311	0
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662		NA											False	0	True	16:30749733	0
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	rs138173652		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527		NA											False	0	False	4:126412333	0
NBEA	26960	broad.mit.edu	37	13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000540320.1	+	36	6424	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	NBEA_ENST00000400445.3_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V			Q8NFP9	NBEA_HUMAN	neurobeachin	1964						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTGAGCTCATCAATGAAGG	0.343		NA											False	0	False	13:35883716	0
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000300952.2	+	8	1766	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	MIDN_ENST00000591446.2_Missense_Mutation_p.H417Q	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	417						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GTCCGTACCACTGGTCACCCA	0.706		NA											False	0	False	19:1257115	0
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537		NA											False	0	True	19:50000840	0
ZNRF4	148066	broad.mit.edu	37	19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	117						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCGGATCTGCCGGCGCTGTTC	0.672		NA											False	0	False	19:5455852	0
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000403096.3	+	6	898	c.407G>A	c.(406-408)cGc>cAc	p.R136H	COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R162H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	162						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637		NA											False	0	False	2:3691377	0
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000374051.3	+	2	603	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000358741.3_Missense_Mutation_p.S94L|NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	94					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632		NA											False	0	True	X:70367880	0
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1042					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692		NA											False	0	True	11:66468444	0
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473		NA											False	0	False	3:151164707	0
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478		NA											False	0	False	11:107535878	0
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000405093.3	-	13	1384	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000356287.3_Missense_Mutation_p.N438K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	438	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562		NA											False	0	False	14:23870014	0
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	T	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:65678310T>G	ENST00000352385.2	-	18	3248	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1013						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667		NA									OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	15:65678310	0
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	350					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGAGGGGGCGGCCGCTACA	0.701		NA											False	0	True	2:26951301	0
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000351659.3_Silent_p.G495G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.G582G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622		NA											False	0	False	2:127806138	0
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562		NA											False	0	False	19:11596575	0
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	230					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597		NA											False	0	True	X:47038526	0
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	G	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	CACNB1_ENST00000394310.3_Splice_Site_p.P382H|CACNB1_ENST00000344140.5_Splice_Site_p.P427H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	382					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537		NA											False	0	True	17:37334238	0
HTR1B	3351	broad.mit.edu	37	6	78172557	78172557	+	Silent	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	188					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587		NA											False	0	False	6:78172557	0
DDHD1	0	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000357758.3	-	4	1441	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000323669.5_Missense_Mutation_p.D420N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363		NA											False	0	False	14:53558534	0
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	56	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.V56L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333		NA											False	0	False	3:72893552	0
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000349945.1	+	7	2418	c.866C>T	c.(865-867)aCt>aTt	p.T289I	NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000354436.2_Missense_Mutation_p.T365I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	365	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423		NA											False	0	False	16:69689654	0
TTN	7273	broad.mit.edu	37	2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000589042.1	-	326	81871	c.81647G>A	c.(81646-81648)cGc>cAc	p.R27216H	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN_ENST00000591111.1_Missense_Mutation_p.R25575H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368		NA											False	0	False	2:179429212	0
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000340149.2_Silent_p.P216P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	254					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572		NA											False	0	True	11:77937956	0
ARHGEF25	115557	broad.mit.edu	37	12	58010135	58010135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:58010135C>T	ENST00000286494.4	+	14	1949	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P536S	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	497					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAAGAGGGCCTGGAGTGGG	0.592		NA											False	0	True	12:58010135	0
PCDHGA2	0	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				NA								p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682		NA											False	0	False	5:140720422	0
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	292							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433		NA											False	0	False	X:64719038	0
WDR91	29062	broad.mit.edu	37	7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000354475.4	-	9	1301	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR91_ENST00000344400.5_Missense_Mutation_p.A424T|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	424										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTAAGCTGGCGACTCTCCTC	0.527		NA											False	0	False	7:134879811	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562		NA											False	0	False	6:27100336	0
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000341083.3	-	5	889	c.593T>A	c.(592-594)cTa>cAa	p.L198Q	BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q|BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000396900.2_Missense_Mutation_p.L250Q	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	250							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522		NA											False	0	False	10:13534699	0
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000547195.1	-	20	2958	c.2458G>T	c.(2458-2460)Gag>Tag	p.E820*	MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.E884*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	884					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577		NA											False	0	False	11:10597887	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0
SLC29A3	55315	broad.mit.edu	37	10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	248					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATGGGACTCTACCTGCTGCT	0.557		NA											False	0	False	10:73115969	0
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	130										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627		NA											False	0	False	15:74032751	0
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363		NA											False	0	False	10:93711219	0
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	474					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388		NA							Neonatal Giant Cell Hepatitis				False	0	False	8:59404129	0
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	464	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637		NA											False	0	False	1:204587730	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369296	20369296	+	RNA	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:20369296C>T	ENST00000593655.1	-	0	199										NA											NA						TGGGATGACACGAAACACCTG	0.378		NA											False	0	False	19:20369296	0
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.E339E	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	218					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363		NA											False	0	False	17:15909860	0
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587		NA											False	0	False	11:68190978	0
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602		NA											False	0	False	X:5821413	0
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	291						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582		NA											False	0	True	20:5903661	0
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	274					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388		NA											False	0	False	3:165548002	0
