Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													11	413					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547000													8	749					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2290636	2290636	+	Silent	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:2290636A>C	ENST00000174618.4	-	6	1713	c.1308T>G	c.(1306-1308)ggT>ggG	p.G436G	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	436					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGTGGAGCCACCCCCAGCCG	0.672000													10	72					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	9					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630455	7630455	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7630455T>C	ENST00000572933.1	+	4	1704	c.244T>C	c.(244-246)Tcc>Ccc	p.S82P	DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	82	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCCTTTCCCGAGCTGC	0.537000													26	127					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30442608	30442608	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:30442608C>T	ENST00000286788.4	-	2	317	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	37					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GGGCAAGCTCCTTGCAAGCTT	0.358000													7	34					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121350	61121350	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:61121350G>A	ENST00000426130.2	-	5	1129	c.350C>T	c.(349-351)gCt>gTt	p.A117V	CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A100V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		CGTAAAGACAGCAACCAGCCC	0.602000													3	132					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119204736	119204736	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:119204736T>C	ENST00000313400.4	-	21	3694	c.3594A>G	c.(3592-3594)gcA>gcG	p.A1198A	ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000341734.4_Silent_p.A250A|ASTN2_ENST00000373996.3_Silent_p.A1194A			O75129	ASTN2_HUMAN	astrotactin 2	1198						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTACCTTCTGCCTTGTTGT	0.498000													73	302					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188113	140188113	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140188113T>C	ENST00000530339.1	+	1	1341	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D	PCDHA4_ENST00000356878.4_Silent_p.D447D|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCTGATGTGAACGACA	0.642000													13	194					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:89133249T>A	ENST00000535633.1	-	11	1250		c.e11-2		NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289000													4	46					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052255	68052255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:68052255G>A	ENST00000344096.3	+	3	1981	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	523	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R523H(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCTGCAGTGCGCATGACCCCA	0.577000													4	255					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281488	139281488	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:139281488C>T	ENST00000406875.3	-	12	2786	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	898	Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTCTGTTCCTCCTCCTCGTCC	0.607000													71	338					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649012	47649012	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:47649012C>T	ENST00000398742.2	+	5	562	c.513C>T	c.(511-513)acC>acT	p.T171T	GPR111_ENST00000296862.1_Silent_p.T239T|GPR111_ENST00000507065.1_Silent_p.T171T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	239					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTACAGCACCATAGCCAACC	0.443000													5	192					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48442848	48442848	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:48442848G>A	ENST00000004980.5	-	14	1953	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	SENP1_ENST00000549595.1_Missense_Mutation_p.A492V|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000551330.1_Missense_Mutation_p.A492V			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	492	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTATTAAATGCATGCACACT	0.363000													27	132					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076040	57076040	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57076040C>T	ENST00000532437.1	-	5	4456	c.4145G>A	c.(4144-4146)gGc>gAc	p.G1382D	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1382	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACAAGCTGCCATTGTGCCT	0.652000													4	185					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:1677555C>T	ENST00000252804.4	-	9	928	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	293	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507000													89	292					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453000													7	466					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197238941	197238941	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:197238941G>A	ENST00000392379.1	-	8	1258	c.857C>T	c.(856-858)aCc>aTc	p.T286I	BDH1_ENST00000441275.1_Missense_Mutation_p.T199I|BDH1_ENST00000392378.2_Missense_Mutation_p.T286I|BDH1_ENST00000358186.2_Missense_Mutation_p.T286I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	286					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCTGCAGTAGGTCTCCATCTT	0.582000													85	539					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:16317206A>T	ENST00000291439.3	+	3	703	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCTTTCCTCTATAAGGTGGTG	0.592000													7	784					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155314033	155314033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:155314033G>A	ENST00000368346.3	-	22	8576	c.7937C>T	c.(7936-7938)gCc>gTc	p.A2646V	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2646					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAGGTTGGGCATAGTGGGG	0.483000													4	278					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303000													3	51					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				8	385					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94526317	94526317	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:94526317T>A	ENST00000370225.3	-	14	2024		c.e14-2		ABCA4_ENST00000535735.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCATGAAACTAAAGCAAAAG	0.443000													7	96					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37304947	37304947	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:37304947T>A	ENST00000231498.3	-	27	3261		c.e27-2		NUP155_ENST00000502533.1_Splice_Site|NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTTCAAACTAAAATAAAGA	0.358000													7	71					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188110	140188110	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140188110T>C	ENST00000530339.1	+	1	1338	c.1338T>C	c.(1336-1338)gcT>gcC	p.A446A	PCDHA4_ENST00000356878.4_Silent_p.A446A|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCTGATGTGAACG	0.637000													17	193					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013623	75013623	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:75013623G>C	ENST00000379727.3	-	5	1281	c.1083C>G	c.(1081-1083)gaC>gaG	p.D361E	CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	361					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GATGGGATCTGTCAGAGAGCC	0.612000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				29	105					0	0	1	0	0
ACBD6	84320	broad.mit.edu	37	1	180366742	180366742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:180366742T>A	ENST00000367595.3	-	6	1261		c.e6-2		ACBD6_ENST00000475338.2_Splice_Site	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGCCCTACCCTAAAAACACAG	0.373000													5	228					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488853	44488853	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:44488853G>A	ENST00000425708.2	-	7	2651	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	ZNF445_ENST00000396077.2_Silent_p.A770A			P59923	ZN445_HUMAN	zinc finger protein 445	770					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATTGCGGAAGGCCTTGCCAC	0.527000													12	28					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546098	85546098	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:85546098G>A	ENST00000393217.2	+	20	4431	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1457										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATTCCACCCGCTTCCCTTCA	0.378000													24	102					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839646	15839646	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:15839646G>T	ENST00000305899.3	+	1	813	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CAAGCCCAAAGGTCCCCACTC	0.552000													5	546					0.00116845	0.00119936	1	1	0
PPWD1	23398	broad.mit.edu	37	5	64867889	64867889	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:64867889T>C	ENST00000261308.5	+	5	817	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H|PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	249					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GATGATTGAATACTGGACTGG	0.373000													24	95					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244561	171244561	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:171244561A>C	ENST00000354841.4	+	3	529	c.398A>C	c.(397-399)gAg>gCg	p.E133A	FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	133					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCATGAAGAGAAGCAAGAG	0.433000													59	300					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119983152	119983152	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:119983152G>A	ENST00000341846.5	-	9	2158	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000529044.1_Silent_p.G318G|TRIM29_ENST00000524816.3_Silent_p.G145G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	579					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAATCCCGTTGCCTTTGTTGA	0.587000													8	253					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071380	9071380	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:9071380G>C	ENST00000397910.4	-	3	16269	c.16066C>G	c.(16066-16068)Cag>Gag	p.Q5356E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5358	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATGCTCTGTGGTGATGTG	0.522000													4	625					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90039695	90039695	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:90039695C>T	ENST00000268122.4	-	1	149	c.81G>A	c.(79-81)ggG>ggA	p.G27G	RHCG_ENST00000544600.1_Silent_p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	27					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCACGAACACCCCGAAGAGAA	0.607000													47	254					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72069615	72069615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:72069615C>T	ENST00000355327.3	+	18	3093	c.2959C>T	c.(2959-2961)Cag>Tag	p.Q987*	THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	987	PLAC.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGTGGTGGTCCAGGCAAGACT	0.542000													24	437					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874941	151874941	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:151874941T>G	ENST00000355193.2	-	38	7815	c.7597A>C	c.(7597-7599)Aat>Cat	p.N2533H	KMT2C_ENST00000262189.6_Missense_Mutation_p.N2533H					lysine (K)-specific methyltransferase 2C																		CCAACTGGATTATTCATTTGT	0.443000													4	131					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119576009	119576009	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:119576009T>A	ENST00000369426.5	-	6	640	c.637A>T	c.(637-639)Atg>Ttg	p.M213L	WARS2_ENST00000537870.1_Intron|WARS2_ENST00000235521.4_Intron			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	0					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AACACACACATACCCAAAACA	0.393000													6	355					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475319	5475319	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:5475319T>C	ENST00000341449.2	+	1	682	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATGGACTCTTTGTTCTTGT	0.473000													4	444					0	0	1	0	0
TMEM217	221468	broad.mit.edu	37	6	37186648	37186648	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:37186648A>T	ENST00000336655.2	-	2	198	c.159T>A	c.(157-159)agT>agA	p.S53R	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S53R	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	53						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTATGATGTTACTTGCACCCC	0.443000													9	1227					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80097056	80097056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:80097056C>T	ENST00000466387.1	+	9	1304	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	194					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAAGAAGACAACAGGTGGG	0.403000													25	127					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753879	133753879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:133753879G>T	ENST00000318560.5	+	8	1729	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	450	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCAGGTGTATGAGCTGCTAGA	0.502000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	362					1.06961e-07	1.12774e-07	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18736130	18736130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:18736130C>T	ENST00000513874.1	-	12	1712	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	525								p.A525T(2)		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						CCAGTGGCCGCGTGCACGTCG	0.612000													40	174					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151243	139151243	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:139151243A>T	ENST00000395297.1	-	18	4057	c.3887T>A	c.(3886-3888)cTa>cAa	p.L1296Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1296										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTTGGCTTAGTTGGTAGAG	0.448000										HNSCC(54;0.14)			5	175					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839655	57839655	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:57839655G>A	ENST00000321545.4	+	4	1170	c.825G>A	c.(823-825)cgG>cgA	p.R275R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCACCAGCGGATTCACAGTG	0.522000													23	98					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27176851	27176851	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:27176851T>A	ENST00000374142.3	+	4	801	c.706T>A	c.(706-708)Ttc>Atc	p.F236I		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	236						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GAACTATCGCTTCTTCTACGC	0.577000													43	174					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333000													4	114					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751238	14751238	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:14751238G>A	ENST00000284268.6	-	5	957	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	209					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTAGCCCAGGCACAGGGTGG	0.572000													17	135					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373333.1_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000487874.1_Silent_p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348000													6	95					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677627	57677627	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57677627G>A	ENST00000402412.1	-	13	1541	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Missense_Mutation_p.A97V|R3HDM2_ENST00000403821.2_Missense_Mutation_p.A370V|R3HDM2_ENST00000441731.2_Missense_Mutation_p.A31V|R3HDM2_ENST00000347140.3_Missense_Mutation_p.A370V|R3HDM2_ENST00000413953.2_Missense_Mutation_p.A97V|R3HDM2_ENST00000358907.2_Missense_Mutation_p.A370V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	370						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GATCCTTCCCGCACTGCCGCC	0.507000													5	782					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11470318	11470318	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:11470318C>A	ENST00000227756.4	-	2	812	c.401G>T	c.(400-402)cGg>cTg	p.R134L		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGGCAGGGGCCGGTCCAGGGG	0.662000													12	43					6.31663e-08	6.69631e-08	1	1	0
SF3B6	51639	broad.mit.edu	37	2	24291303	24291303	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:24291303G>C	ENST00000233468.4	-	3	389	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		59	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAAGCTGTTCCTCTAGT	0.383000													3	266					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744736	154744736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:154744736G>A	ENST00000271915.3	-	3	1478	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V|KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	393						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGCCAGGCGTGCCGTCCAGAA	0.607000													19	132					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524031	51524031	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:51524031A>G	ENST00000371117.3	-	61	11168	c.10893T>C	c.(10891-10893)taT>taC	p.Y3631Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3631					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Y3631Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACTCTTCTATAATGACTAG	0.448000													79	267					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572000									Ichthyosis				9	1300					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413000													4	352					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100401094	100401094	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100401094G>C	ENST00000358173.3	-	17	3421	c.2953C>G	c.(2953-2955)Ccg>Gcg	p.P985A	EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	985					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662000													7	27					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183731161	183731161	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:183731161G>T	ENST00000295113.4	-	1	729	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	40	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCACAGGGGGATGCGGACGG	0.672000													17	88					1.62849e-17	1.75515e-17	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67079118	67079118	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:67079118A>G	ENST00000284425.2	-	36	4686	c.4512T>C	c.(4510-4512)ctT>ctC	p.L1504L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1504	ABC transporter 2.				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)					AATCCTTGCCAAGTTTGTTTT	0.398000													4	670					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408000													5	159					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G	rs148310097	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522000													6	865					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468000													4	107					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166913	64166913	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:64166913G>C	ENST00000395391.1	+	4	1606	c.231G>C	c.(229-231)caG>caC	p.Q77H	ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H|ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q77H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATATTCCAGTGTAATAAAT	0.333000													7	27					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667000													5	300					0.000442599	0.000456725	1	1	0
FMO5	2330	broad.mit.edu	37	1	146696569	146696569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:146696569G>A	ENST00000254090.4	-	2	441	c.53C>T	c.(52-54)tCc>tTc	p.S18F	FMO5_ENST00000441068.2_Missense_Mutation_p.S18F|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	18						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GCACTTGATGGAAGAGAGCCC	0.502000													33	185					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078021	46078021	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:46078021G>A	ENST00000397907.1	+	1	173	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	42	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCTGCACGCGCATTGTGTGC	0.642000													5	466					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTATTTTTTAGTTTCTTACT	0.313000													4	69					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66850172	66850172	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:66850172A>C	ENST00000341509.5	-	8	941	c.810T>G	c.(808-810)atT>atG	p.I270M	LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	270					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGGTTACTAATGTCCACAG	0.512000													5	260					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642000													6	328					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42317465	42317465	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:42317465C>T	ENST00000342228.3	-	5	931	c.562G>A	c.(562-564)Gct>Act	p.A188T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	188					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGGTAGCAGCATAGAATACT	0.502000													15	91					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99277508	99277508	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:99277508G>A	ENST00000339843.2	-	1	113	c.12C>T	c.(10-12)atC>atT	p.I4I	CYP3A5_ENST00000222982.4_Silent_p.I4I|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.I4I					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CCAAATTTGGGATGAGGTCCA	0.512000													5	130					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473348	31473348	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:31473348C>T	ENST00000457010.2	+	2	1282	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ARMC5_ENST00000563544.1_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	194							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCACTGTGCTGGTAAGAGG	0.567000													3	169					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52793886	52793886	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:52793886C>T	ENST00000257974.2	-	5	902	c.825G>A	c.(823-825)gtG>gtA	p.V275V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	275	Linker 12.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGTCCATCTTCACAATGACCG	0.602000													21	130					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034457	150034457	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:150034457T>A	ENST00000359623.4	+	3	1095	c.507T>A	c.(505-507)ggT>ggA	p.G169G	LRRC61_ENST00000493307.1_Silent_p.G169G|LRRC61_ENST00000323078.7_Silent_p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	169	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGGGCGTGGTAGTGAGTTCT	0.652000													36	155					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592819	70592819	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:70592819C>T	ENST00000310613.2	-	8	1175	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCTCTGTGCGGAATTGAAG	0.393000													4	81					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608253	29608253	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:29608253G>T	ENST00000431530.3	+	2	2525	c.2467G>T	c.(2467-2469)Gat>Tat	p.D823Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	813	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTACAGTTCCGATCCTTCAGG	0.458000													36	163					6.3237e-29	6.89212e-29	1	1	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													7	389					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	372					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308000								Rad6 pathway					4	65					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26481657	26481657	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:26481657A>T	ENST00000311151.5	+	4	725		c.e4-1		DPYSL2_ENST00000521913.1_Splice_Site|DPYSL2_ENST00000523027.1_Splice_Site	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTTTCTTTCTAGTTGACCACG	0.532000													7	307					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32272228	32272228	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32272228T>A	ENST00000400246.1	+	37	3924	c.3782T>A	c.(3781-3783)gTa>gAa	p.V1261E	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V1252E|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V1230E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E			O75140	DEPD5_HUMAN	DEP domain containing 5	1230					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACAAGATAGTAACGGACAAA	0.517000													7	351					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933181	9933181	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:9933181T>A	ENST00000316020.6	-	4	283		c.e4-2		OFCC1_ENST00000472329.1_Splice_Site					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTCTTTAACTAGAGCAAAAC	0.388000													5	288					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836772	47836772	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:47836772T>C	ENST00000396965.1	-	7	1064	c.714A>G	c.(712-714)gcA>gcG	p.A238A	ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTCCTACATGCAGTACATT	0.408000													19	34					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site			Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363000													8	105					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45857991	45857991	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:45857991C>T	ENST00000391945.4	-	17	1739	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	ERCC2_ENST00000391944.3_Silent_p.E476E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	554	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCGTACCTGCTCATACCAGG	0.602000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				116	470					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153552	37153552	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:37153552A>T	ENST00000262879.6	+	11	2035	c.1751A>T	c.(1750-1752)tAc>tTc	p.Y584F	RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y584F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y362F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y584F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	584					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGTTCCTTACTTTATTTCA	0.413000													9	910					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648743	85648743	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:85648743T>C	ENST00000341460.5	-	3	1631	c.1582A>G	c.(1582-1584)Aaa>Gaa	p.K528E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	528					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGGAAAGTTTCCTCACAGTT	0.353000													15	100					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152232	161152232	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:161152232T>C	ENST00000308192.9	+	11	1469	c.1406T>C	c.(1405-1407)cTg>cCg	p.L469P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	469					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)	CCTGTTGTCCTGCTTCCAGAT	0.498000													43	214					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGGTGGTCAAAGAGCTTCCA	0.647000													2	4					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417116	7417116	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7417116T>C	ENST00000322644.6	+	29	5932	c.5533T>C	c.(5533-5535)Tct>Cct	p.S1845P		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1845	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AACCAGTCCTTCTTACAGTCC	0.572000													37	156					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165796068	165796068	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:165796068T>A	ENST00000303735.4	-	4	527		c.e4-2		SLC38A11_ENST00000409149.3_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409662.1_Splice_Site	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAGGATCAACTAAAACACAAT	0.313000													3	30					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													9	231					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600750	80600750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:80600750T>A	ENST00000254037.2	+	1	3329	c.174T>A	c.(172-174)caT>caA	p.H58Q	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	58	Poly-Lys.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGCAAAACATAAAAAGAACA	0.373000													5	86					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173901	86173901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:86173901G>A	ENST00000431532.2	-	1	215	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R23W	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	23					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GGACTTAGCCGCACCCCCTCA	0.602000													4	129					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7496341G>A	ENST00000250113.7	-	13	1823	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617000													3	85					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8429515	8429515	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8429515A>T	ENST00000301455.2	+	1	481	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	104					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGTCCTTCACAGCCTGCAGGT	0.706000													6	20					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175882	71175882	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:71175882G>C	ENST00000333538.5	+	10	2271	c.1637G>C	c.(1636-1638)aGc>aCc	p.S546T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	546	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTCAAGAGCAGCCTGTAC	0.612000													9	116					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463000													6	592					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:29079901C>G	ENST00000377169.1	+	1	234	c.234C>G	c.(232-234)acC>acG	p.T78T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473000													64	486					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258214	25258214	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:25258214C>T	ENST00000264864.6	+	4	863	c.674C>T	c.(673-675)gCa>gTa	p.A225V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	225	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGACCGTGCAAAATCAAGA	0.363000													29	85					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													4	106					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077445	57077445	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57077445G>A	ENST00000532437.1	-	5	3051	c.2740C>T	c.(2740-2742)Cac>Tac	p.H914Y	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	914	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTACCATGGTGGTCCCTCTTC	0.572000													101	460					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151511932	151511932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:151511932C>A	ENST00000535741.1	-	39	6599	c.6126G>T	c.(6124-6126)gaG>gaT	p.E2042D	LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D|LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000357115.3_Missense_Mutation_p.E2053D			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2053						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAGGAGGATCTCGTTTTCTG	0.413000													34	120					2.87052e-16	3.07669e-16	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57437906	57437906	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57437906C>T	ENST00000442789.2	-	10	1015	c.728G>A	c.(727-729)aGc>aAc	p.S243N	MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N|MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	243	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCCCTGAAGCTGGAGGCGTC	0.562000													29	127					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613131	51613131	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:51613131C>T	ENST00000371117.3	-	58	9558	c.9283G>A	c.(9283-9285)Gtt>Att	p.V3095I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3095I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3095					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGCCACAACGTTGCCATGG	0.502000													6	575					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55622657	55622657	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:55622657C>T	ENST00000294383.6	-	12	1409	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	USP24_ENST00000407756.1_Silent_p.L358L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	470					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCTAACGACAATTTACTAC	0.368000													26	226					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373730.3_Splice_Site	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393000													5	236					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								7	113					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483000			T	NUP98	AML								4	121					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177408	153177408	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:153177408C>A	ENST00000368747.1	+	2	335	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	75	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCACCAAGCCCTGTC	0.627000													34	127					8.4185e-14	8.97357e-14	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:29019452A>T	ENST00000373816.1	+	5	474		c.e5-1		GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403000													4	90					0	0	1	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859383	149859383	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149859383C>T	ENST00000331128.3	-	1	83	c.84G>A	c.(82-84)gtG>gtA	p.V28V		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	28					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCACTCGCCCCACCGGGAACT	0.682000													5	324					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66844677	66844677	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:66844677T>A	ENST00000379463.2	-	15	1209		c.e15-2		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCACGGTAACTAAAAAAGAAT	0.343000													9	147					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428000													8	854					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988623	64988623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:64988623A>T	ENST00000358738.3	+	2	792	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCCAGCAAACAGAACAGCAAA	0.418000													26	114					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	9					0.00909568	0.00928717	1	1	0
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428000													5	100					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	137					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78572439	78572439	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:78572439C>G	ENST00000394855.3	+	7	1245	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	DNAJA4_ENST00000446172.2_Silent_p.P283P|DNAJA4_ENST00000394852.3_Silent_p.P310P|DNAJA4_ENST00000343789.3_Silent_p.P310P	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	310					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGGAATGCCCATCTACAAAG	0.458000													39	163					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:131007746A>T	ENST00000307968.7	-	13	2306	c.2307T>A	c.(2305-2307)acT>acA	p.T769T	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000510461.1_Silent_p.T797T	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443000													6	450					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993851	176993851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:176993851G>A	ENST00000367654.2	-	6	1151	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S			O14525	ASTN1_HUMAN	astrotactin 1	380					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTATTCACAGGACTTCGGGGA	0.493000													39	184					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289815	5289815	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:5289815C>T	ENST00000380237.1	-	5	672	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V110M			P02100	HBE_HUMAN	hemoglobin, epsilon 1	110					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACCATCACGTTACCCAGG	0.463000													7	801					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966943	39966943	+	Silent	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:39966943G>C	ENST00000599117.1	+	31	3535	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000402194.2_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L|SUPT5H_ENST00000359191.6_Silent_p.L1052L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1056					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGTCCTACTGAGCATTGATG	0.587000													4	459					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928017	15928017	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:15928017G>A	ENST00000504595.1	+	3	627	c.146G>A	c.(145-147)cGc>cAc	p.R49H	FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H|FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R49H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGAGCATGCGCACACTGAGC	0.572000													4	365					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1087470	1087470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:1087470C>A	ENST00000441003.2	+	24	3248	c.3221C>A	c.(3220-3222)gCc>gAc	p.A1074D	MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1074						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCTACGAGGCCTGTGTGCAC	0.657000													6	6					5.18039e-06	5.43241e-06	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51758414	51758414	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:51758414T>C	ENST00000251076.5	-	30	7771	c.7484A>G	c.(7483-7485)cAa>cGa	p.Q2495R	DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2495						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCTGTATTTGTGTATCTGA	0.313000													14	56					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25332876	25332876	+	RNA	SNP	T	T	C	rs143221036	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:25332876T>C	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AACTCTATACTGTCATCCTCG	0.448000													5	483					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162071	91162071	+	Translation_Start_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:91162071T>A	ENST00000546318.1	+	0	1233				IFIT1_ENST00000371804.3_Missense_Mutation_p.S13R|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1						cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAAGGATAGTCTGGAGCAAT	0.353000													57	340					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81952663	81952663	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:81952663A>T	ENST00000282701.2	+	1	545	c.225A>T	c.(223-225)acA>acT	p.T75T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	75					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CGGCCCGGACACCGGGCTCCC	0.687000													10	38					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33887039	33887039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:33887039A>T	ENST00000307296.3	+	12	1977	c.1600A>T	c.(1600-1602)Atc>Ttc	p.I534F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	534	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAATGCTGCCATCCCTTCTGC	0.468000													35	178					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566499	41566499	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:41566499A>T	ENST00000263253.7	+	27	5595	c.4376A>T	c.(4375-4377)aAg>aTg	p.K1459M	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1459					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1458_K1459delPK(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGATACCCAAGCCCAAGCGA	0.468000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				36	170					0	0	1	0	0
DTYMK	1841	broad.mit.edu	37	2	242625274	242625274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:242625274C>T	ENST00000305784.2	-	2	356	c.149G>A	c.(148-150)gGc>gAc	p.G50D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	50					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	p.G50D(2)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGAAGTTTGCCGATTTCAGT	0.388000													3	122					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33882216	33882216	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:33882216C>A	ENST00000244137.6	-	13	1170	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000397032.4_Silent_p.V338V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	379					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GGTAGCCTCCCACGTCGTGCA	0.667000													6	13					1	1	1	1	0
DECR2	26063	broad.mit.edu	37	16	460737	460737	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:460737G>T	ENST00000219481.5	+	6	647	c.509G>T	c.(508-510)cGg>cTg	p.R170L	DECR2_ENST00000424398.2_Missense_Mutation_p.R158L|DECR2_ENST00000461947.1_3'UTR	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	170						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701000													2	2					1	1	1	1	0
C2orf47	79568	broad.mit.edu	37	2	200826508	200826508	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:200826508G>C	ENST00000295079.2	+	5	976	c.654G>C	c.(652-654)agG>agC	p.R218S	C2orf47_ENST00000392290.1_Missense_Mutation_p.R218S|C2orf47_ENST00000469156.1_Intron	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	218						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TCTAAGGAAGGAAGTTTGTTA	0.358000													8	46					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCGAATAACTGAAAAGACAG	0.363000													4	174					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213434	200213434	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:200213434T>C	ENST00000443023.1	-	6	2451	c.986A>G	c.(985-987)aAc>aGc	p.N329S	SATB2_ENST00000417098.1_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000428695.1_Missense_Mutation_p.N270S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	388						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGCGGTTGAATGCCAC	0.403000													33	172					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928509	69928509	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:69928509C>T	ENST00000352241.4	+	2	492	c.329C>T	c.(328-330)aCg>aTg	p.T110M	MITF_ENST00000328528.6_Missense_Mutation_p.T109M|MITF_ENST00000448226.2_Missense_Mutation_p.T110M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000394355.2_Missense_Mutation_p.T85M	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	110					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCTCTGCCACGCAGGTGCCG	0.527000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						25	59					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981555	118981555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:118981555A>T	ENST00000336702.3	+	4	929		c.e4-1			NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTGTCTGTAGTTGGAAGTC	0.527000													11	589					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212326	26212326	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:26212326C>G	ENST00000379034.1	+	2	512	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	121	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGTTTCAGGCTCAAAATATG	0.542000													66	111					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70905956	70905956	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:70905956A>G	ENST00000393567.2	-	65	11225	c.11075T>C	c.(11074-11076)aTt>aCt	p.I3692T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3692										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGAAAGCAATTGTAGCTGA	0.458000													5	257					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795162	142795162	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:142795162T>A	ENST00000370498.1	-	2	1269	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	172										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAAGATCCTTCAGATG	0.468000													11	2001					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125873838	125873838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:125873838C>A	ENST00000392693.3	-	10	2112	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	CDON_ENST00000531738.1_Missense_Mutation_p.G39V|CDON_ENST00000263577.7_Missense_Mutation_p.G662V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	662	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGGCCTTCACCTGCTGCGCT	0.502000													7	124					0.000442599	0.000456725	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													4	61					0	0	1	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859428	149859428	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149859428A>G	ENST00000331128.3	-	1	38	c.39T>C	c.(37-39)gcT>gcC	p.A13A		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	13					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A13A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACTTGGCCTTAGCGCGGGCCT	0.587000													5	352					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031929	7031929	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:7031929C>T	ENST00000535366.1	+	11	1897	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	424					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCGCTTTGCCGGACATAAC	0.527000													5	518					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373959	57373959	+	Missense_Mutation	SNP	C	C	G	rs61761890		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57373959C>G	ENST00000403558.1	+	5	1463	c.1097C>G	c.(1096-1098)cCc>cGc	p.P366R	SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000278407.4_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	323					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATAAAAGTGCCCATGATGAAT	0.428000													87	264					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													6	156					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Splice_Site	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													12	671					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94369179	94369179	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:94369179T>A	ENST00000260731.3	+	6	701	c.611T>A	c.(610-612)gTa>gAa	p.V204E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	204	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAATTACAGTACACAACAAG	0.373000													5	318					0	0	1	0	0
CCDC58	131076	broad.mit.edu	37	3	122087171	122087171	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:122087171T>A	ENST00000291458.5	-	3	184		c.e3-2		CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58											large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TGCCATCAACTAAAAGAACAA	0.328000													4	12					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373000													5	246					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383000													6	101					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	RNA	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:120906203G>A	ENST00000430394.1	+	0	176					NR_027337.1																						CCCGACACCGGCATCTCGTCC	0.612000													5	904					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:186415580G>A	ENST00000391997.2	-	3	278	c.191C>T	c.(190-192)tCa>tTa	p.S64L	PDC_ENST00000340129.5_Missense_Mutation_p.S64L|PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000456239.2_Missense_Mutation_p.S12L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338000													14	96					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:179434473A>T	ENST00000589042.1	-	326	76610	c.76386T>A	c.(76384-76386)aaT>aaA	p.N25462K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 85.						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)			TGTTTGTTTTATTAATTCCTG	0.383000													6	69					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961469	68961469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:68961469A>T	ENST00000261778.1	+	13	2139		c.e13-1		RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTCATTTTGTAGTTGAAGTCA	0.393000													5	97					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	59					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755516	48755516	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:48755516C>T	ENST00000285238.8	+	25	3721	c.3641C>T	c.(3640-3642)gCc>gTc	p.A1214V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1214	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCACTATTTGCCGTCATCGGG	0.622000													5	309					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392632	71392632	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:71392632G>T	ENST00000373279.4	+	4	342	c.183G>T	c.(181-183)caG>caT	p.Q61H	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	61						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCTGCTCAGTCCCCCTTCA	0.632000													8	44					3.86212e-05	4.02823e-05	1	1	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													10	82					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58282987	58282987	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:58282987A>C	ENST00000300896.4	-	26	3264	c.3070T>G	c.(3070-3072)Ttc>Gtc	p.F1024V	USP32_ENST00000592339.1_Missense_Mutation_p.F694V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1024					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTAGGGTGAACATTTCATTT	0.398000													48	176					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22437012	22437012	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:22437012A>T	ENST00000334304.5	-	10	1634	c.1365T>A	c.(1363-1365)tcT>tcA	p.S455S	GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000508133.1_Silent_p.S229S|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	455					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTTTGTCAGAAAAGTTGG	0.378000													26	67					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550589	8550589	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8550589G>A	ENST00000348943.3	+	15	1392	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	HNRNPM_ENST00000325495.4_Missense_Mutation_p.G426D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	426					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTGGGCCACGGCATGGATCGC	0.706000													5	556					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493000													6	281					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373000													4	151					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997497	8997497	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8997497G>C	ENST00000397910.4	-	59	41128	c.40925C>G	c.(40924-40926)aCc>aGc	p.T13642S	MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13644	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGTGATGGTGAAGTTGAG	0.527000													123	651					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2945505	2945505	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:2945505A>T	ENST00000216877.6	+	5	473		c.e5-1		PTPRA_ENST00000399903.2_Splice_Site|PTPRA_ENST00000358719.4_Splice_Site|PTPRA_ENST00000356147.3_Splice_Site|PTPRA_ENST00000380393.3_Splice_Site|PTPRA_ENST00000318266.5_Splice_Site|PTPRA_ENST00000425918.2_Splice_Site	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGTGTTTGTAGTTGCACCTT	0.368000													5	79					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403000													5	363					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517000													4	326					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	9					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90039695	90039695	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:90039695C>T	ENST00000268122.4	-	1	149	c.81G>A	c.(79-81)ggG>ggA	p.G27G	RHCG_ENST00000544600.1_Silent_p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	27					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCACGAACACCCCGAAGAGAA	0.607000													47	254					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30442608	30442608	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr21:30442608C>T	ENST00000286788.4	-	2	317	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000540844.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	37					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GGGCAAGCTCCTTGCAAGCTT	0.358000													7	34					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121350	61121350	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:61121350G>A	ENST00000426130.2	-	5	1129	c.350C>T	c.(349-351)gCt>gTt	p.A117V	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A100V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V|CYB561A3_ENST00000544118.1_Intron	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		CGTAAAGACAGCAACCAGCCC	0.602000													3	132					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188113	140188113	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140188113T>C	ENST00000530339.1	+	1	1341	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA4_ENST00000356878.4_Silent_p.D447D	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCTGATGTGAACGACA	0.642000													13	194					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:89133249T>A	ENST00000535633.1	-	11	1250		c.e11-2		NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289000													4	46					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281488	139281488	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:139281488C>T	ENST00000406875.3	-	12	2786	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	898	Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTCTGTTCCTCCTCCTCGTCC	0.607000													71	338					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649012	47649012	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:47649012C>T	ENST00000398742.2	+	5	562	c.513C>T	c.(511-513)acC>acT	p.T171T	GPR111_ENST00000507065.1_Silent_p.T171T|GPR111_ENST00000296862.1_Silent_p.T239T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	239					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTACAGCACCATAGCCAACC	0.443000													5	192					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48442848	48442848	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:48442848G>A	ENST00000004980.5	-	14	1953	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	SENP1_ENST00000551330.1_Missense_Mutation_p.A492V|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000549595.1_Missense_Mutation_p.A492V|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	492	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTATTAAATGCATGCACACT	0.363000													27	132					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076040	57076040	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57076040C>T	ENST00000532437.1	-	5	4456	c.4145G>A	c.(4144-4146)gGc>gAc	p.G1382D	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1382	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACAAGCTGCCATTGTGCCT	0.652000													4	185					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:1677555C>T	ENST00000252804.4	-	9	928	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	293	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507000													89	292					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197238941	197238941	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:197238941G>A	ENST00000392379.1	-	8	1258	c.857C>T	c.(856-858)aCc>aTc	p.T286I	BDH1_ENST00000358186.2_Missense_Mutation_p.T286I|BDH1_ENST00000441275.1_Missense_Mutation_p.T199I|BDH1_ENST00000392378.2_Missense_Mutation_p.T286I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	286					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCTGCAGTAGGTCTCCATCTT	0.582000													85	539					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155314033	155314033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:155314033G>A	ENST00000368346.3	-	22	8576	c.7937C>T	c.(7936-7938)gCc>gTc	p.A2646V	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2646					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAGGTTGGGCATAGTGGGG	0.483000													4	278					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99277508	99277508	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:99277508G>A	ENST00000339843.2	-	1	113	c.12C>T	c.(10-12)atC>atT	p.I4I	CYP3A5_ENST00000439761.1_Silent_p.I4I|CYP3A5_ENST00000222982.4_Silent_p.I4I|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000480723.1_5'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CCAAATTTGGGATGAGGTCCA	0.512000													5	130					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188110	140188110	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140188110T>C	ENST00000530339.1	+	1	1338	c.1338T>C	c.(1336-1338)gcT>gcC	p.A446A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA4_ENST00000356878.4_Silent_p.A446A	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCTGATGTGAACG	0.637000													17	193					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013623	75013623	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:75013623G>C	ENST00000379727.3	-	5	1281	c.1083C>G	c.(1081-1083)gaC>gaG	p.D361E	CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	361					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GATGGGATCTGTCAGAGAGCC	0.612000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				29	105					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													3	26					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488853	44488853	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:44488853G>A	ENST00000425708.2	-	7	2651	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	ZNF445_ENST00000396077.2_Silent_p.A770A			P59923	ZN445_HUMAN	zinc finger protein 445	770					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATTGCGGAAGGCCTTGCCAC	0.527000													12	28					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546098	85546098	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:85546098G>A	ENST00000393217.2	+	20	4431	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1457										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATTCCACCCGCTTCCCTTCA	0.378000													24	102					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839646	15839646	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:15839646G>T	ENST00000305899.3	+	1	813	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CAAGCCCAAAGGTCCCCACTC	0.552000													5	546					0.00116845	0.0012127	1	1	0
PPWD1	23398	broad.mit.edu	37	5	64867889	64867889	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:64867889T>C	ENST00000261308.5	+	5	817	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H|PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	249					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GATGATTGAATACTGGACTGG	0.373000													24	95					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244561	171244561	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:171244561A>C	ENST00000354841.4	+	3	529	c.398A>C	c.(397-399)gAg>gCg	p.E133A	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	133					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCATGAAGAGAAGCAAGAG	0.433000													59	300					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119983152	119983152	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:119983152G>A	ENST00000341846.5	-	9	2158	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	TRIM29_ENST00000529044.1_Silent_p.G318G|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000524816.3_Silent_p.G145G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	579					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAATCCCGTTGCCTTTGTTGA	0.587000													8	253					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071380	9071380	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:9071380G>C	ENST00000397910.4	-	3	16269	c.16066C>G	c.(16066-16068)Cag>Gag	p.Q5356E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5358	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATGCTCTGTGGTGATGTG	0.522000													4	625					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468000													4	107					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72069615	72069615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:72069615C>T	ENST00000355327.3	+	18	3093	c.2959C>T	c.(2959-2961)Cag>Tag	p.Q987*	THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*|THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	987	PLAC.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGTGGTGGTCCAGGCAAGACT	0.542000													24	437					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38022213	38022213	+	Splice_Site	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.972_splice	c.e5-1	p.G325_splice	TBC1D1_ENST00000508802.1_Splice_Site_p.G325_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	325	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTGGCAGGGCATCAGACAC	0.458000													5	417					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475319	5475319	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:5475319T>C	ENST00000341449.2	+	1	682	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATGGACTCTTTGTTCTTGT	0.473000													4	444					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80097056	80097056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:80097056C>T	ENST00000466387.1	+	9	1304	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	194					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAAGAAGACAACAGGTGGG	0.403000													25	127					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753879	133753879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr9:133753879G>T	ENST00000318560.5	+	8	1729	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	450	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCAGGTGTATGAGCTGCTAGA	0.502000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	362					1.06961e-07	1.15383e-07	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18736130	18736130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:18736130C>T	ENST00000513874.1	-	12	1712	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	525								p.A525T(2)		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						CCAGTGGCCGCGTGCACGTCG	0.612000													40	174					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151243	139151243	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:139151243A>T	ENST00000395297.1	-	18	4057	c.3887T>A	c.(3886-3888)cTa>cAa	p.L1296Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1296										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTTGGCTTAGTTGGTAGAG	0.448000										HNSCC(54;0.14)			5	175					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839655	57839655	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:57839655G>A	ENST00000321545.4	+	4	1170	c.825G>A	c.(823-825)cgG>cgA	p.R275R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCACCAGCGGATTCACAGTG	0.522000													23	98					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874941	151874941	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:151874941T>G	ENST00000355193.2	-	38	7815	c.7597A>C	c.(7597-7599)Aat>Cat	p.N2533H	KMT2C_ENST00000262189.6_Missense_Mutation_p.N2533H					lysine (K)-specific methyltransferase 2C																		CCAACTGGATTATTCATTTGT	0.443000													4	131					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333000													4	114					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751238	14751238	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:14751238G>A	ENST00000284268.6	-	5	957	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	209					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTAGCCCAGGCACAGGGTGG	0.572000													17	135					0	0	1	0	0
SF3B6	51639	broad.mit.edu	37	2	24291303	24291303	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:24291303G>C	ENST00000233468.4	-	3	389	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		59	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAAGCTGTTCCTCTAGT	0.383000													3	266					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55622657	55622657	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:55622657C>T	ENST00000294383.6	-	12	1409	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	USP24_ENST00000407756.1_Silent_p.L358L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	470					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCTAACGACAATTTACTAC	0.368000													26	226					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744736	154744736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:154744736G>A	ENST00000271915.3	-	3	1478	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V|KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	393						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGCCAGGCGTGCCGTCCAGAA	0.607000													19	132					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524031	51524031	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:51524031A>G	ENST00000371117.3	-	61	11168	c.10893T>C	c.(10891-10893)taT>taC	p.Y3631Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3631					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Y3631Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACTCTTCTATAATGACTAG	0.448000													79	267					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413000													4	352					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218669198	218669198	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:218669198G>A	ENST00000171887.4	-	33	5644	c.5192C>T	c.(5191-5193)gCc>gTc	p.A1731V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1731						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.A1731V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTTTGGCCGGCATTCAGCAT	0.612000													5	372					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100401094	100401094	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:100401094G>C	ENST00000358173.3	-	17	3421	c.2953C>G	c.(2953-2955)Ccg>Gcg	p.P985A	EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	985					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662000													7	27					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183731161	183731161	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:183731161G>T	ENST00000295113.4	-	1	729	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	40	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCACAGGGGGATGCGGACGG	0.672000													17	88					1.62849e-17	1.81385e-17	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67079118	67079118	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:67079118A>G	ENST00000284425.2	-	36	4686	c.4512T>C	c.(4510-4512)ctT>ctC	p.L1504L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1504	ABC transporter 2.				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)					AATCCTTGCCAAGTTTGTTTT	0.398000													4	670					0	0	1	0	0
CASP12	100506742	broad.mit.edu	37	11	104762024	104762024	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:104762024C>T	ENST00000422698.2	-	4	558	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CASP12_ENST00000441710.1_Silent_p.G180G|CASP12_ENST00000494737.1_Intron|CASP12_ENST00000508062.1_Silent_p.G96G|CASP12_ENST00000433738.1_Intron|CASP12_ENST00000448103.1_Intron|CASP12_ENST00000446862.1_Silent_p.G180G|CASP12_ENST00000447913.1_Intron|CASP12_ENST00000375726.2_Silent_p.G180G	NM_001191016.1	NP_001177945.1	Q6UXS9	CASPC_HUMAN	caspase 12 (gene/pseudogene)	180					apoptosis|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity			breast(1)	1						AGTGCTTGGTCCCACAGATTC	0.473000													3	8					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166913	64166913	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:64166913G>C	ENST00000395391.1	+	4	1606	c.231G>C	c.(229-231)caG>caC	p.Q77H	ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H|ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q77H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATATTCCAGTGTAATAAAT	0.333000													7	27					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667000													5	300					0.000442599	0.000462871	1	1	0
FMO5	2330	broad.mit.edu	37	1	146696569	146696569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:146696569G>A	ENST00000254090.4	-	2	441	c.53C>T	c.(52-54)tCc>tTc	p.S18F	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F|FMO5_ENST00000441068.2_Missense_Mutation_p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	18						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GCACTTGATGGAAGAGAGCCC	0.502000													33	185					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66850172	66850172	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:66850172A>C	ENST00000341509.5	-	8	941	c.810T>G	c.(808-810)atT>atG	p.I270M	LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	270					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGGTTACTAATGTCCACAG	0.512000													5	260					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836772	47836772	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:47836772T>C	ENST00000396965.1	-	7	1064	c.714A>G	c.(712-714)gcA>gcG	p.A238A	ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTCCTACATGCAGTACATT	0.408000													19	34					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388471	1388471	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:1388471C>T	ENST00000324803.4	+	1	3132	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	58					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACGTGCCCATGT	0.637000													6	370					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473348	31473348	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr16:31473348C>T	ENST00000457010.2	+	2	1282	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V|ARMC5_ENST00000563544.1_Missense_Mutation_p.A194V	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	194							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCACTGTGCTGGTAAGAGG	0.567000													3	169					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52793886	52793886	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:52793886C>T	ENST00000257974.2	-	5	902	c.825G>A	c.(823-825)gtG>gtA	p.V275V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	275	Linker 12.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGTCCATCTTCACAATGACCG	0.602000													21	130					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70592819	70592819	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:70592819C>T	ENST00000310613.2	-	8	1175	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCTCTGTGCGGAATTGAAG	0.393000													4	81					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:186415580G>A	ENST00000391997.2	-	3	278	c.191C>T	c.(190-192)tCa>tTa	p.S64L	PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000456239.2_Missense_Mutation_p.S12L|PDC_ENST00000340129.5_Missense_Mutation_p.S64L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338000													14	96					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608253	29608253	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr13:29608253G>T	ENST00000431530.3	+	2	2525	c.2467G>T	c.(2467-2469)Gat>Tat	p.D823Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	813	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTACAGTTCCGATCCTTCAGG	0.458000													36	163					6.3237e-29	7.15989e-29	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45857991	45857991	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:45857991C>T	ENST00000391945.4	-	17	1739	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	ERCC2_ENST00000391944.3_Silent_p.E476E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	554	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCGTACCTGCTCATACCAGG	0.602000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				116	470					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42317465	42317465	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:42317465C>T	ENST00000342228.3	-	5	931	c.562G>A	c.(562-564)Gct>Act	p.A188T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	188					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGGTAGCAGCATAGAATACT	0.502000													15	91					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648743	85648743	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:85648743T>C	ENST00000341460.5	-	3	1631	c.1582A>G	c.(1582-1584)Aaa>Gaa	p.K528E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	528					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGGAAAGTTTCCTCACAGTT	0.353000													15	100					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152232	161152232	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:161152232T>C	ENST00000308192.9	+	11	1469	c.1406T>C	c.(1405-1407)cTg>cCg	p.L469P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	469					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)	CCTGTTGTCCTGCTTCCAGAT	0.498000													43	214					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGGTGGTCAAAGAGCTTCCA	0.647000													2	4					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417116	7417116	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7417116T>C	ENST00000322644.6	+	29	5932	c.5533T>C	c.(5533-5535)Tct>Cct	p.S1845P		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1845	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AACCAGTCCTTCTTACAGTCC	0.572000													37	156					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165796068	165796068	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:165796068T>A	ENST00000303735.4	-	4	527		c.e4-2		SLC38A11_ENST00000409662.1_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409149.3_Splice_Site	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAGGATCAACTAAAACACAAT	0.313000													3	30					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600750	80600750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:80600750T>A	ENST00000254037.2	+	1	3329	c.174T>A	c.(172-174)caT>caA	p.H58Q	ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	58	Poly-Lys.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGCAAAACATAAAAAGAACA	0.373000													5	86					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173901	86173901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:86173901G>A	ENST00000431532.2	-	1	215	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R23W	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	23					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GGACTTAGCCGCACCCCCTCA	0.602000													4	129					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7496341G>A	ENST00000250113.7	-	13	1823	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617000													3	85					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8429515	8429515	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:8429515A>T	ENST00000301455.2	+	1	481	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	104					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGTCCTTCACAGCCTGCAGGT	0.706000													6	20					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:29079901C>G	ENST00000377169.1	+	1	234	c.234C>G	c.(232-234)acC>acG	p.T78T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473000													64	486					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258214	25258214	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:25258214C>T	ENST00000264864.6	+	4	863	c.674C>T	c.(673-675)gCa>gTa	p.A225V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	225	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGACCGTGCAAAATCAAGA	0.363000													29	85					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077445	57077445	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57077445G>A	ENST00000532437.1	-	5	3051	c.2740C>T	c.(2740-2742)Cac>Tac	p.H914Y	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	914	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTACCATGGTGGTCCCTCTTC	0.572000													101	460					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11470318	11470318	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:11470318C>A	ENST00000227756.4	-	2	812	c.401G>T	c.(400-402)cGg>cTg	p.R134L		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGGCAGGGGCCGGTCCAGGGG	0.662000													12	43					6.31663e-08	6.86808e-08	1	1	0
LRBA	987	broad.mit.edu	37	4	151511932	151511932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:151511932C>A	ENST00000535741.1	-	39	6599	c.6126G>T	c.(6124-6126)gaG>gaT	p.E2042D	LRBA_ENST00000357115.3_Missense_Mutation_p.E2053D|LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2053						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAGGAGGATCTCGTTTTCTG	0.413000													34	120					2.87052e-16	3.17146e-16	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57437906	57437906	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:57437906C>T	ENST00000442789.2	-	10	1015	c.728G>A	c.(727-729)aGc>aAc	p.S243N	MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N|MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	243	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCCCTGAAGCTGGAGGCGTC	0.562000													29	127					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373959	57373959	+	Missense_Mutation	SNP	C	C	G	rs61761890		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57373959C>G	ENST00000403558.1	+	5	1463	c.1097C>G	c.(1096-1098)cCc>cGc	p.P366R	SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000278407.4_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	323					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATAAAAGTGCCCATGATGAAT	0.428000													87	264					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630455	7630455	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7630455T>C	ENST00000572933.1	+	4	1704	c.244T>C	c.(244-246)Tcc>Ccc	p.S82P	DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	82	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCCTTTCCCGAGCTGC	0.537000													26	127					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483000			T	NUP98	AML								4	121					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	268					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988623	64988623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr14:64988623A>T	ENST00000358738.3	+	2	792	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCCAGCAAACAGAACAGCAAA	0.418000													26	114					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	9					0.00909568	0.00936923	1	1	0
DNAJA4	55466	broad.mit.edu	37	15	78572439	78572439	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:78572439C>G	ENST00000394855.3	+	7	1245	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	DNAJA4_ENST00000446172.2_Silent_p.P283P|DNAJA4_ENST00000343789.3_Silent_p.P310P|DNAJA4_ENST00000394852.3_Silent_p.P310P	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	310					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGGAATGCCCATCTACAAAG	0.458000													39	163					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993851	176993851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:176993851G>A	ENST00000367654.2	-	6	1151	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S			O14525	ASTN1_HUMAN	astrotactin 1	380					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTATTCACAGGACTTCGGGGA	0.493000													39	184					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289815	5289815	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:5289815C>T	ENST00000380237.1	-	5	672	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V110M|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	110					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACCATCACGTTACCCAGG	0.463000													7	801					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966943	39966943	+	Silent	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:39966943G>C	ENST00000599117.1	+	31	3535	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	SUPT5H_ENST00000359191.6_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L|SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000402194.2_Silent_p.L1052L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1056					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGTCCTACTGAGCATTGATG	0.587000													4	459					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928017	15928017	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:15928017G>A	ENST00000504595.1	+	3	627	c.146G>A	c.(145-147)cGc>cAc	p.R49H	FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H|FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R49H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGAGCATGCGCACACTGAGC	0.572000													4	365					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1087470	1087470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:1087470C>A	ENST00000441003.2	+	24	3248	c.3221C>A	c.(3220-3222)gCc>gAc	p.A1074D	MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1074						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCTACGAGGCCTGTGTGCAC	0.657000													6	6					5.18039e-06	5.54464e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	8997497	8997497	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:8997497G>C	ENST00000397910.4	-	59	41128	c.40925C>G	c.(40924-40926)aCc>aGc	p.T13642S	MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13644	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGTGATGGTGAAGTTGAG	0.527000													123	651					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162071	91162071	+	Translation_Start_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:91162071T>A	ENST00000546318.1	+	0	1233				LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.S13R	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1						cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAAGGATAGTCTGGAGCAAT	0.353000													57	340					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81952663	81952663	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:81952663A>T	ENST00000282701.2	+	1	545	c.225A>T	c.(223-225)acA>acT	p.T75T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	75					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CGGCCCGGACACCGGGCTCCC	0.687000													10	38					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33887039	33887039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:33887039A>T	ENST00000307296.3	+	12	1977	c.1600A>T	c.(1600-1602)Atc>Ttc	p.I534F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	534	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAATGCTGCCATCCCTTCTGC	0.468000													35	178					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566499	41566499	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:41566499A>T	ENST00000263253.7	+	27	5595	c.4376A>T	c.(4375-4377)aAg>aTg	p.K1459M	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1459					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1458_K1459delPK(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGATACCCAAGCCCAAGCGA	0.468000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				36	170					0	0	1	0	0
DTYMK	1841	broad.mit.edu	37	2	242625274	242625274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:242625274C>T	ENST00000305784.2	-	2	356	c.149G>A	c.(148-150)gGc>gAc	p.G50D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	50					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	p.G50D(2)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGAAGTTTGCCGATTTCAGT	0.388000													3	122					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33882216	33882216	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:33882216C>A	ENST00000244137.6	-	13	1170	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000397032.4_Silent_p.V338V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	379					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GGTAGCCTCCCACGTCGTGCA	0.667000													6	13					1	1	1	1	0
C2orf47	79568	broad.mit.edu	37	2	200826508	200826508	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:200826508G>C	ENST00000295079.2	+	5	976	c.654G>C	c.(652-654)agG>agC	p.R218S	C2orf47_ENST00000469156.1_Intron|C2orf47_ENST00000392290.1_Missense_Mutation_p.R218S	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	218						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TCTAAGGAAGGAAGTTTGTTA	0.358000													8	46					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213434	200213434	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:200213434T>C	ENST00000443023.1	-	6	2451	c.986A>G	c.(985-987)aAc>aGc	p.N329S	SATB2_ENST00000428695.1_Missense_Mutation_p.N270S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000417098.1_Missense_Mutation_p.N388S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	388						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGCGGTTGAATGCCAC	0.403000													33	172					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928509	69928509	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:69928509C>T	ENST00000352241.4	+	2	492	c.329C>T	c.(328-330)aCg>aTg	p.T110M	MITF_ENST00000328528.6_Missense_Mutation_p.T109M|MITF_ENST00000448226.2_Missense_Mutation_p.T110M|MITF_ENST00000394355.2_Missense_Mutation_p.T85M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	110					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCTCTGCCACGCAGGTGCCG	0.527000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						25	59					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212326	26212326	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:26212326C>G	ENST00000379034.1	+	2	512	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	121	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGTTTCAGGCTCAAAATATG	0.542000													66	111					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70905956	70905956	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr16:70905956A>G	ENST00000393567.2	-	65	11225	c.11075T>C	c.(11074-11076)aTt>aCt	p.I3692T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3692										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGAAAGCAATTGTAGCTGA	0.458000													5	257					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795162	142795162	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:142795162T>A	ENST00000370498.1	-	2	1269	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	172										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAAGATCCTTCAGATG	0.468000													11	2001					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125873838	125873838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:125873838C>A	ENST00000392693.3	-	10	2112	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	CDON_ENST00000263577.7_Missense_Mutation_p.G662V|CDON_ENST00000531738.1_Missense_Mutation_p.G39V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	662	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGGCCTTCACCTGCTGCGCT	0.502000													7	124					0.000442599	0.000462871	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													4	61					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031929	7031929	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:7031929C>T	ENST00000535366.1	+	11	1897	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	424					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCGCTTTGCCGGACATAAC	0.527000													5	518					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51758414	51758414	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:51758414T>C	ENST00000251076.5	-	30	7771	c.7484A>G	c.(7483-7485)cAa>cGa	p.Q2495R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2495						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCTGTATTTGTGTATCTGA	0.313000													14	56					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94369179	94369179	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:94369179T>A	ENST00000260731.3	+	6	701	c.611T>A	c.(610-612)gTa>gAa	p.V204E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	204	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAATTACAGTACACAACAAG	0.373000													5	318					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078021	46078021	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr21:46078021G>A	ENST00000397907.1	+	1	173	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	42	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCTGCACGCGCATTGTGTGC	0.642000													5	466					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177408	153177408	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:153177408C>A	ENST00000368747.1	+	2	335	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	75	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCACCAAGCCCTGTC	0.627000													34	127					8.4185e-14	9.22668e-14	1	1	0
LRRC61	65999	broad.mit.edu	37	7	150034457	150034457	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:150034457T>A	ENST00000359623.4	+	3	1095	c.507T>A	c.(505-507)ggT>ggA	p.G169G	LRRC61_ENST00000323078.7_Silent_p.G169G|LRRC61_ENST00000493307.1_Silent_p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	169	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGGGCGTGGTAGTGAGTTCT	0.652000													36	155					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27176851	27176851	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:27176851T>A	ENST00000374142.3	+	4	801	c.706T>A	c.(706-708)Ttc>Atc	p.F236I		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	236						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GAACTATCGCTTCTTCTACGC	0.577000													43	174					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755516	48755516	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:48755516C>T	ENST00000285238.8	+	25	3721	c.3641C>T	c.(3640-3642)gCc>gTc	p.A1214V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1214	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCACTATTTGCCGTCATCGGG	0.622000													5	309					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392632	71392632	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:71392632G>T	ENST00000373279.4	+	4	342	c.183G>T	c.(181-183)caG>caT	p.Q61H	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	61						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCTGCTCAGTCCCCCTTCA	0.632000													8	44					3.86212e-05	4.10163e-05	1	1	0
USP32	84669	broad.mit.edu	37	17	58282987	58282987	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:58282987A>C	ENST00000300896.4	-	26	3264	c.3070T>G	c.(3070-3072)Ttc>Gtc	p.F1024V	USP32_ENST00000592339.1_Missense_Mutation_p.F694V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1024					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTAGGGTGAACATTTCATTT	0.398000													48	176					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22437012	22437012	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:22437012A>T	ENST00000334304.5	-	10	1634	c.1365T>A	c.(1363-1365)tcT>tcA	p.S455S	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000508133.1_Silent_p.S229S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	455					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTTTGTCAGAAAAGTTGG	0.378000													26	67					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119204736	119204736	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr9:119204736T>C	ENST00000313400.4	-	21	3694	c.3594A>G	c.(3592-3594)gcA>gcG	p.A1198A	ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000373996.3_Silent_p.A1194A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000341734.4_Silent_p.A250A			O75129	ASTN2_HUMAN	astrotactin 2	1198						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTACCTTCTGCCTTGTTGT	0.498000													73	302					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													3	4					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17725285	17725286	+	RNA	DEL	AC	AC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:17725285_17725286delAC	ENST00000434762.2	+	0	1844_1845							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGCTGACTAACATCCCCTCTG	0.599													22	129	---	---	---	---					
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)cccfs	p.P200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634													7	197	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:26608878_26608883delCCGGGA	ENST00000314675.7	-	11	1189_1194	c.1110_1115delTCCCGG	c.(1108-1116)ggc>gg	p.GPG370del	UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	490						cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													19	49	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1098)accfs	p.T366fs	RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673													8	192	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	648	---	---	---	---					
RAB42	115273	broad.mit.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)gggfs	p.G79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584													9	121	---	---	---	---					
BAI2	576	broad.mit.edu	37	1	32207235	32207236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:32207235_32207236insG	ENST00000373658.3	-	10	2017_2018	c.1676_1677insC	c.(1675-1677)caafs	p.Q559fs	BAI2_ENST00000257070.4_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398542.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000398538.1_Frame_Shift_Ins_p.Q547fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.Q507fs|BAI2_ENST00000440175.2_Frame_Shift_Ins_p.Q201fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	559					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P559Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGAGGCATTCGGGGGGCACTT	0.594													17	235	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	446	---	---	---	---					
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)cccfs	p.P321fs	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644													7	478	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													8	396	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													8	763	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)ccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													7	466	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													34	623	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													16	327	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								10	357	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													7	133	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													18	331	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													10	294	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													9	419	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													9	825	---	---	---	---					
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)gttfs	p.V125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629													7	142	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													14	413	---	---	---	---					
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C	rs151038984		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-87)tccfs	p.S29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629													8	305	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													10	262	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								13	243	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													10	816	---	---	---	---					
ATP1A4	480	broad.mit.edu	37	1	160134105	160134106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:160134105_160134106insT	ENST00000368081.4	+	7	1409_1410	c.938_939insT	c.(937-939)attfs	p.I313fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	313					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGTGTCACTTTTTTTGCGC	0.535													8	802	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													9	669	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													10	589	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													16	232	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													11	385	---	---	---	---					
SERTAD4	56256	broad.mit.edu	37	1	210411418	210411419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:210411418_210411419insC	ENST00000367012.3	+	2	343_344	c.113_114insC	c.(112-114)accfs	p.T38fs	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	38							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAGGCCCAAGCCCCCCAGGGC	0.619													9	343	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													9	397	---	---	---	---					
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27456981_27456982insC	ENST00000264705.4	+	22	3667_3668	c.3505_3506insC	c.(3505-3507)cccfs	p.P1169fs	CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1169	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACGCTGGTGACCCCCCCACAA	0.574													7	154	---	---	---	---					
SLC30A3	7781	broad.mit.edu	37	2	27479379	27479380	+	Frame_Shift_Ins	INS	-	-	G	rs146572471	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27479379_27479380insG	ENST00000233535.4	-	7	1244_1245	c.892_893insC	c.(892-894)caafs	p.Q298fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	298					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.R298H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACCT	0.604													9	267	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	925	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													7	87	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													9	375	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579													7	379	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													8	423	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													8	258	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133540513	133540514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:133540513_133540514insG	ENST00000409261.1	-	14	4243_4244	c.3870_3871insC	c.(3868-3873)cctcgafs	p.R1291fs	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.R1291fs|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1291							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GACCCTTCGATGGGGGGCGTAG	0.550													7	265	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)gtcfs	p.V109fs	NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604													9	121	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													8	289	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													12	303	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													27	582	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													12	511	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)cgafs	p.R119fs	PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.550													8	448	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2646)gccfs	p.A882fs	SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A882fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A882fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCGAGGGCCCCCCCAGCC	0.644													8	90	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													12	162	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													24	517	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													8	212	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													15	327	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								12	228	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10183717	10183725	+	In_Frame_Del	DEL	GCTGCGCTC	GCTGCGCTC	-	rs5030826		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:10183717_10183725delGCTGCGCTC	ENST00000256474.2	+	1	1026_1034	c.186_194delGCTGCGCTC	c.(184-195)gtg>gt	p.VLRS62del	VHL_ENST00000345392.2_In_Frame_Del_p.VLRS62del	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	62					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGGCCCGTGCTGCGCTCGGTGAACTCG	0.727		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				2	4	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	688	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													7	258	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569													8	113	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51431352	51431353	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:51431352_51431353insG	ENST00000323686.4	+	1	2622_2623	c.2522_2523insG	c.(2521-2523)gggfs	p.G841fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	841	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTTGCCAGTGGGGGGGTCCA	0.609													7	91	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52677285	52677285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:52677285delT	ENST00000296302.7	-	9	975	c.974delA	c.(973-975)atfs	p.N325fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs			Q86U86	PB1_HUMAN	polybromo 1	325					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTAGTGGGATTTCTCTCTTC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								29	86	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1291-1296)aaggggfs	p.KG431fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACCT	0.604													9	732	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													9	319	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)ggafs	p.G380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.500													8	535	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													7	722	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													12	230	---	---	---	---					
ANAPC13	25847	broad.mit.edu	37	3	134197443	134197444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:134197443_134197444insG	ENST00000510994.1	-	3	943_944	c.213_214insC	c.(211-216)ccttggfs	p.W72fs	ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.W72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	72					cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex				lung(1)|skin(1)	2						CAGTTTCCAATGGGGGGAACAT	0.421													8	276	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	289	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													7	646	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													8	211	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													12	682	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													19	707	---	---	---	---					
PRSS12	8492	broad.mit.edu	37	4	119239601	119239601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:119239601delT	ENST00000296498.3	-	5	1364	c.1082delA	c.(1081-1083)agfs	p.K361fs		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	361	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGCTCTTTGGACACTG	0.483													61	230	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													9	232	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													7	618	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													17	1043	---	---	---	---					
ZSWIM6	57688	broad.mit.edu	37	5	60628441	60628441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:60628441delC	ENST00000252744.5	+	1	342	c.342delC	c.(340-342)ttfs	p.F114fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	114	Gly-rich.						zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ATTGGTCCTTCCCCCGCAGCG	0.736													2	4	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401													8	491	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													8	309	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495243	71495245	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71495243_71495245delGAA	ENST00000296755.7	+	5	6359_6361	c.6061_6063delGAA	c.(6061-6063)del	p.E2021del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2021						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTGAGTCTGAAGGTTATTCCT	0.463													16	641	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													8	214	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													14	247	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	955	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	1073	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)ggccacfs	p.H834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584													8	230	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													10	243	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													16	816	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564													7	907	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													13	361	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													12	506	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													8	407	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	199	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													9	509	---	---	---	---					
ADAMTS2	9509	broad.mit.edu	37	5	178541085	178541086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:178541085_178541086insG	ENST00000251582.7	-	22	3519_3520	c.3418_3419insC	c.(3418-3420)ggafs	p.G1140fs		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1140					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGGACCTCCAGGGGGGTGCTT	0.569													8	571	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													9	362	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													11	261	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													23	383	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													13	259	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													11	317	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													21	1244	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													16	376	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569931	30569932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:30569931_30569932insG	ENST00000376511.2	-	19	3046_3047	c.2494_2495insC	c.(2494-2496)cgafs	p.R832fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	832	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGGCCTTCGTGGGGGCGATGT	0.678													7	1360	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													10	469	---	---	---	---					
GPSM3	63940	broad.mit.edu	37	6	32159157	32159158	+	Frame_Shift_Ins	INS	-	-	G	rs149772913	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32159157_32159158insG	ENST00000375040.3	-	4	860_861	c.468_469insC	c.(466-471)cccacafs	p.T157fs	GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	157					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CAGGTGTGTGTGGGGGGCCGGG	0.634													9	705	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			4	9	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													8	230	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													14	1136	---	---	---	---					
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:50805703_50805704insG	ENST00000263046.4	+	6	1030_1031	c.864_865insG	c.(862-867)aaggggfs	p.KG288fs	TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	279					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436													8	197	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													12	327	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													22	954	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:146755630_146755632delGAC	ENST00000361719.2	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)del	p.D1099del	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													7	545	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													11	143	---	---	---	---					
C7orf57	136288	broad.mit.edu	37	7	48089565	48089566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:48089565_48089566insC	ENST00000348904.3	+	6	808_809	c.596_597insC	c.(595-597)tccfs	p.S199fs	C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.S199fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.S77fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	199										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGACTCTCCTTCCCCCCCGTGT	0.550													8	245	---	---	---	---					
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:73535322_73535323insC	ENST00000418310.1	+	15	1916_1917	c.1814_1815insC	c.(1813-1815)tccfs	p.S605fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S541fs|LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs			P53667	LIMK1_HUMAN	LIM domain kinase 1	575					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCCCCAAACTGCCCCCCGAGCT	0.653													9	239	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:73731900_73731901insC	ENST00000223398.6	+	2	351_352	c.24_25insC	c.(22-27)aaccccfs	p.NP8fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	8						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668													8	216	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								17	296	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													11	465	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100479331_100479332insG	ENST00000388793.4	+	4	523_524	c.303_304insG	c.(301-306)gcggggfs	p.AG101fs	SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609													12	197	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													9	185	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)gatfs	p.D72fs	NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase.						N-acetyltransferase activity										CGCCGTAGATGCCCCCCGAGAT	0.678													9	251	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)ggagccfs	p.A293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673													13	106	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													8	1560	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													11	610	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579													7	490	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	644	---	---	---	---					
SCARA5	286133	broad.mit.edu	37	8	27729503	27729504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:27729503_27729504insC	ENST00000354914.3	-	9	1920_1921	c.1435_1436insG	c.(1435-1437)gacfs	p.D479fs	SCARA5_ENST00000380385.2_Frame_Shift_Ins_p.D254fs	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAGTTTGTCACCCCCCATTTG	0.569													9	442	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													7	148	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													8	125	---	---	---	---					
FAM135B	51059	broad.mit.edu	37	8	139263192	139263193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:139263192_139263193insG	ENST00000395297.1	-	6	603_604	c.433_434insC	c.(433-435)gaafs	p.E145fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	145								p.R145Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACCATTCCGGGGGTGGAAG	0.599										HNSCC(54;0.14)			7	947	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1174-1179)tgggggfs	p.WG392fs	ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.WG375fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	392	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584													11	52	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													14	279	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													7	426	---	---	---	---					
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs3215969	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)catfs	p.H142fs	AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579													10	513	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													8	1697	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													24	350	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1099-1104)tcccccfs	p.SP367fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	367					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609													9	251	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													10	397	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													13	490	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													9	339	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	473	---	---	---	---					
HDHD3	81932	broad.mit.edu	37	9	116136194	116136195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:116136194_116136195insC	ENST00000238379.5	-	2	1337_1338	c.440_441insG	c.(439-441)gctfs	p.A147fs	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.A147fs	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	147							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGCCAAGGCCCCCCAGGAT	0.639													7	774	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													10	638	---	---	---	---					
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)ggagccfs	p.A166fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609													7	297	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	103	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													16	262	---	---	---	---					
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)gttfs	p.V277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564													10	563	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													10	359	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													34	612	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													9	701	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													10	312	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													13	789	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													8	597	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:102509528_102509529insG	ENST00000370296.2	+	2	619_620	c.69_70insG	c.(67-72)ctggggfs	p.LG23fs	PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs			Q02962	PAX2_HUMAN	paired box 2	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663													8	131	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													8	293	---	---	---	---					
FGFR2	2263	broad.mit.edu	37	10	123310878	123310879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:123310878_123310879insC	ENST00000358487.5	-	5	821_822	c.549_550insG	c.(547-552)ggacccfs	p.P184fs	FGFR2_ENST00000357555.5_Frame_Shift_Ins_p.P95fs|FGFR2_ENST00000360144.3_Frame_Shift_Ins_p.P95fs|FGFR2_ENST00000359354.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000369059.1_Frame_Shift_Ins_p.P69fs|FGFR2_ENST00000457416.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000346997.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000356226.4_Frame_Shift_Ins_p.P69fs|FGFR2_ENST00000369056.1_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000351936.6_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000369060.4_Frame_Shift_Ins_p.P184fs	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	184	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGCATTGGGTTCCCCCCGGCTG	0.525		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				10	213	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													8	191	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													14	335	---	---	---	---					
HPS5	11234	broad.mit.edu	37	11	18303689	18303690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:18303689_18303690insG	ENST00000396253.3	-	21	3256_3257	c.2794_2795insC	c.(2794-2796)ggafs	p.G932fs	HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.G153fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1046						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGTGACTCCTGGGGGGCTGGC	0.554									Hermansky-Pudlak syndrome				7	211	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													11	638	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													39	1044	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													7	1659	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	764	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													23	258	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													11	334	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													12	884	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								7	336	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													11	644	---	---	---	---					
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:88258517_88258518insG	ENST00000418177.2	-	9	3052_3053	c.2685_2686insC	c.(2683-2688)ccaaggfs	p.R896fs	GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATACTCCCTTTGGGGGTGAAAC	0.485													8	1366	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													17	1081	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													7	221	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													12	1314	---	---	---	---					
VSIG2	23584	broad.mit.edu	37	11	124620739	124620740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:124620739_124620740insG	ENST00000403470.1	-	3	352_353	c.297_298insC	c.(295-300)cccagtfs	p.S100fs	VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	100	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCCCCACTGTGGGGGGGTTCT	0.540													7	141	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													14	244	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													18	284	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604													8	393	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													16	474	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													26	1340	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													13	253	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cggfs	p.R520fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.550													11	298	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													12	384	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													29	915	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56490961_56490962insG	ENST00000267101.3	+	20	2847_2848	c.2407_2408insG	c.(2407-2409)gggfs	p.G803fs	ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	803	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.540													7	215	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56532024	56532025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56532024_56532025insC	ENST00000394048.5	+	21	2569_2570	c.2305_2306insC	c.(2305-2307)cccfs	p.P769fs	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.P779fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.P779fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCCC	0.599													7	476	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56559112_56559113insG	ENST00000394023.3	-	27	3326_3327	c.3221_3222insC	c.(3220-3222)cggfs	p.R1074fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574													20	284	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cccfs	p.P47fs	NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL								7	221	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cgafs	p.R689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569													9	638	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)ggtfs	p.G281fs	STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639													9	191	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													18	382	---	---	---	---					
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:112130538_112130539insC	ENST00000455480.2	+	2	202_203	c.25_26insC	c.(25-27)cccfs	p.P9fs	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619													9	591	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													34	487	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													19	1315	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													10	258	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	118199247	118199248	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:118199247_118199248insG	ENST00000425217.1	-	4	521_522	c.467_468insC	c.(466-468)cgafs	p.R156fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACAC	0.634													7	153	---	---	---	---					
ATP6V0A2	23545	broad.mit.edu	37	12	124228388	124228389	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:124228388_124228389insC	ENST00000330342.3	+	10	1343_1344	c.1095_1096insC	c.(1093-1098)acccccfs	p.TP365fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	365					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CAAAAGAAACACCCCCCACTCG	0.436													7	103	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													8	635	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													17	283	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				10	924	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													9	236	---	---	---	---					
AP1G2	8906	broad.mit.edu	37	14	24032653	24032654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:24032653_24032654insC	ENST00000308724.5	-	13	2100_2101	c.1345_1346insG	c.(1345-1347)ccafs	p.P449fs	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.P449fs|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	449					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TAGCTCCTGGGCCCCCCCAATC	0.609											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	99	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													14	211	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													7	638	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													11	674	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73615393	73615394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:73615393_73615394insC	ENST00000261917.3	-	8	4033_4034	c.3040_3041insG	c.(3040-3042)ttcfs	p.F1014fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1014	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TACAGGGGAAGCCCCCCCAGAG	0.713													3	5	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.490													9	503	---	---	---	---					
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-843)cggfs	p.R281fs	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569													7	110	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													10	855	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:16142119_16142120insC	ENST00000399408.2	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)cccfs	p.P447fs	ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATCTGGTCAGCCCCCCTGCAA	0.545													8	404	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(940-945)ttaaaafs	p.LK314fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485													11	697	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28919982	28919983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:28919982_28919983insG	ENST00000358201.4	-	8	1780_1781	c.1192_1193insC	c.(1192-1194)gggfs	p.G398fs	RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.G366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.G327fs	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTGCGAGCCCTGGGGGGCTGAG	0.644													7	284	---	---	---	---					
MYLPF	29895	broad.mit.edu	37	16	30389139	30389140	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:30389139_30389140insC	ENST00000322861.7	+	7	509_510	c.428_429insC	c.(427-429)tccfs	p.S143fs		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	143	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673													10	155	---	---	---	---					
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)gttfs	p.V515fs	ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663													11	288	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													11	153	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													40	1392	---	---	---	---					
FAM65A	79567	broad.mit.edu	37	16	67572614	67572615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:67572614_67572615insC	ENST00000540839.3	+	4	424_425	c.204_205insC	c.(202-207)aaccccfs	p.NP68fs	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.NP62fs|FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.NP68fs|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.NP48fs|FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.NP52fs			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	52						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCACGGAAGCCCCCCGCGCT	0.663													7	272	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													10	1500	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)ccgcgafs	p.R244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614													9	441	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					12	945	---	---	---	---					
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:3844781_3844782insG	ENST00000309890.7	-	13	1862_1863	c.1712_1713insC	c.(1711-1713)cagfs	p.Q571fs	ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649													7	532	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													8	431	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G	rs145218609		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:4875737_4875738insG	ENST00000361571.5	-	15	3005_3006	c.2594_2595insC	c.(2593-2595)cgcfs	p.R865fs	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614													7	57	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													11	1209	---	---	---	---					
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Translation_Start_Site	INS	-	-	TC	rs147679570		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								sugar binding	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584													4	3	---	---	---	---					
LGALS9	3965	broad.mit.edu	37	17	25975971	25975972	+	Frame_Shift_Ins	INS	-	-	G	rs138666349		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:25975971_25975972insG	ENST00000395473.2	+	11	2499_2500	c.1031_1032insG	c.(1030-1032)gggfs	p.G344fs	LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.G312fs|LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.G300fs|LGALS9_ENST00000313648.6_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	344	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGACTGGAAGTGGGGGGCGACA	0.614													7	480	---	---	---	---					
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:26817513_26817514insG	ENST00000444914.3	+	3	840_841	c.420_421insG	c.(418-423)ttggggfs	p.LG140fs	SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	91						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCTGTTCTTCGGGGGGCTGCT	0.639													7	375	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27957891	27957892	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:27957891_27957892insT	ENST00000269033.3	-	15	4390_4391	c.4239_4240insA	c.(4237-4242)aaggacfs	p.D1414fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.D1441fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1414					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGTTGTCCGTTTTTTGTCAT	0.485													7	515	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													28	747	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													7	252	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													7	168	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:42157800_42157801insG	ENST00000225983.6	-	22	3119_3120	c.2796_2797insC	c.(2794-2799)ccttggfs	p.W933fs	HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609													7	185	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													9	209	---	---	---	---					
ACE	1636	broad.mit.edu	37	17	61559936	61559937	+	Frame_Shift_Ins	INS	-	-	G	rs145172277	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:61559936_61559937insG	ENST00000290866.4	+	8	1252_1253	c.1228_1229insG	c.(1228-1230)gggfs	p.G410fs	ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	410	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCCTGCGTCGGGGGGCCAAC	0.609													7	238	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:62049212_62049213insG	ENST00000578147.1	-	4	559		c.e4-2		SCN4A_ENST00000435607.1_Splice_Site			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													7	165	---	---	---	---					
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)ggtactfs	p.T99fs	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													11	122	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					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)					ATCTCTACTTTGGGGGGAAATT	0.376													7	574	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													11	302	---	---	---	---					
OTOP2	92736	broad.mit.edu	37	17	72920762	72920763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:72920762_72920763insC	ENST00000331427.4	+	2	127_128	c.35_36insC	c.(34-36)accfs	p.T12fs	OTOP2_ENST00000580223.1_Frame_Shift_Ins_p.T12fs	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	12						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAAGGAGAGCCCCCCGGCGC	0.693													2	4	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:76814760_76814761insC	ENST00000312010.6	-	10	1335_1336	c.1011_1012insG	c.(1009-1014)ggagatfs	p.D338fs	USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs|USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338					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)			TTGGTGATCTTCCCCCCGCTGA	0.540													8	215	---	---	---	---					
KIAA1328	57536	broad.mit.edu	37	18	34647320	34647321	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr18:34647320_34647321insG	ENST00000591619.1	+	7	1818_1819	c.1032_1033insG	c.(1030-1035)gggtggfs	p.W345fs	KIAA1328_ENST00000280020.5_Frame_Shift_Ins_p.W349fs|KIAA1328_ENST00000435985.2_Frame_Shift_Ins_p.W65fs|KIAA1328_ENST00000543923.1_Frame_Shift_Ins_p.W241fs|KIAA1328_ENST00000586501.1_Frame_Shift_Ins_p.W65fs|KIAA1328_ENST00000586135.1_Frame_Shift_Ins_p.W65fs			Q86T90	K1328_HUMAN	KIAA1328	349										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGGTGCATGGTGGTGGGGCACT	0.441													12	233	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													14	359	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													9	408	---	---	---	---					
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)gcgfs	p.A354fs	ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639													12	97	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	1155	---	---	---	---					
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)caafs	p.Q33fs	EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485													8	180	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													10	343	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													7	113	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17081702	17081703	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:17081702_17081703insG	ENST00000443236.1	-	18	2383_2384	c.2354_splice	c.e18+1	p.N785_splice	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	738						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGCC	0.569													7	79	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													13	523	---	---	---	---					
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:33703793_33703794insG	ENST00000253188.3	-	3	617_618	c.471_472insC	c.(469-474)ccccacfs	p.H158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639													12	219	---	---	---	---					
CHST8	64377	broad.mit.edu	37	19	34180279	34180280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:34180279_34180280insC	ENST00000262622.3	+	2	870_871	c.112_113insC	c.(112-114)cccfs	p.P38fs	CHST8_ENST00000434302.1_Frame_Shift_Ins_p.P38fs|CHST8_ENST00000438847.2_Frame_Shift_Ins_p.P38fs|CHST8_ENST00000604556.1_Frame_Shift_Ins_p.P38fs	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	38					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCAG	0.634													7	380	---	---	---	---					
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(589-594)gaccccfs	p.DP197fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	197					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614													8	150	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													8	337	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													17	433	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													24	951	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	350	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													7	431	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:49589711_49589712insC	ENST00000221448.5	+	2	236_237	c.40_41insC	c.(40-42)cccfs	p.P14fs	SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.540													8	742	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													21	496	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554													9	673	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													7	149	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													19	549	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													11	470	---	---	---	---					
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	by1000genomes	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)gggfs	p.G41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525													7	199	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													16	582	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													10	337	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													22	614	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													9	174	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													14	245	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													10	1040	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)cccfs	p.P346fs	PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574													8	120	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													14	495	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													8	215	---	---	---	---					
TAF4	6874	broad.mit.edu	37	20	60574110	60574111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:60574110_60574111insA	ENST00000252996.3	-	12	2840_2841	c.2841_2842insT	c.(2839-2844)ttaacafs	p.LT947fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	947					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGCTGTTCAAAAAACTTGA	0.505													7	998	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													7	180	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													9	565	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cacfs	p.H67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564													7	291	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	274	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													20	270	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													8	429	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													8	165	---	---	---	---					
PRR14L	253143	broad.mit.edu	37	22	32099548	32099549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32099548_32099549insG	ENST00000327423.6	-	6	6176_6177	c.5987_5988insC	c.(5986-5988)cgafs	p.R1996fs	PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.R1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.R1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTTTCTGTTCTGGGGGGCTGCT	0.535													9	386	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													7	244	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	191	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2193)cccfs	p.P731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	731							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	307	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs72549352		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)agafs	p.R269fs	NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													7	120	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													35	905	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	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						GACAGTCTCAGCCCCCCCTCCA	0.540													10	99	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													9	375	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								42	356	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													7	354	---	---	---	---					
CCDC27	148870	broad.mit.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1906-1911)gtccccfs	p.VP636fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	636										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.550													7	127	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17725285	17725286	+	RNA	DEL	AC	AC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:17725285_17725286delAC	ENST00000434762.2	+	0	1844_1845							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGCTGACTAACATCCCCTCTG	0.599													22	129	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899627	+	RNA	DEL	AA	AA	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:91899626_91899627delAA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAAA	0.287													2	4	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10183717	10183725	+	In_Frame_Del	DEL	GCTGCGCTC	GCTGCGCTC	-	rs5030826		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:10183717_10183725delGCTGCGCTC	ENST00000256474.2	+	1	1026_1034	c.186_194delGCTGCGCTC	c.(184-195)gtg>gt	p.VLRS62del	VHL_ENST00000345392.2_In_Frame_Del_p.VLRS62del	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	62					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGGCCCGTGCTGCGCTCGGTGAACTCG	0.727		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				2	4	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52677285	52677285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:52677285delT	ENST00000296302.7	-	9	975	c.974delA	c.(973-975)atfs	p.N325fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron			Q86U86	PB1_HUMAN	polybromo 1	325					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTAGTGGGATTTCTCTCTTC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								29	86	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													3	4	---	---	---	---					
PRSS12	8492	broad.mit.edu	37	4	119239601	119239601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:119239601delT	ENST00000296498.3	-	5	1364	c.1082delA	c.(1081-1083)agfs	p.K361fs		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	361	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGCTCTTTGGACACTG	0.483													61	230	---	---	---	---					
ZSWIM6	57688	broad.mit.edu	37	5	60628441	60628441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:60628441delC	ENST00000252744.5	+	1	342	c.342delC	c.(340-342)ttfs	p.F114fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	114	Gly-rich.						zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ATTGGTCCTTCCCCCGCAGCG	0.736													2	4	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401													8	491	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495243	71495245	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:71495243_71495245delGAA	ENST00000296755.7	+	5	6359_6361	c.6061_6063delGAA	c.(6061-6063)del	p.E2021del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2021						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTGAGTCTGAAGGTTATTCCT	0.463													16	641	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564													7	907	---	---	---	---					
GRM6	2916	broad.mit.edu	37	5	178418554	178418555	+	Frame_Shift_Ins	INS	-	-	C	rs17078894	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:178418554_178418555insC	ENST00000231188.5	-	3	905_906	c.727_728insG	c.(727-729)ctgfs	p.L243fs	GRM6_ENST00000517717.1_Frame_Shift_Ins_p.L243fs	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCAATACAGACCCCCCCTGGG	0.624													7	188	---	---	---	---					
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													9	243	---	---	---	---					
TDRG1	732253	broad.mit.edu	37	6	40306072	40306073	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:40306072_40306073insG	ENST00000451810.1	+	0	313																											acggtggaggtgggggtggcaa	0.589													4	8	---	---	---	---					
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:50805703_50805704insG	ENST00000263046.4	+	6	1030_1031	c.864_865insG	c.(862-867)aaggggfs	p.KG288fs	TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	279					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436													8	197	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:73731900_73731901insC	ENST00000223398.6	+	2	351_352	c.24_25insC	c.(22-27)aaccccfs	p.NP8fs	CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	8						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668													8	216	---	---	---	---					
NMT2	9397	broad.mit.edu	37	10	15151779	15151779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:15151779delT	ENST00000378165.4	-	11	1478	c.1398delA	c.(1396-1398)aafs	p.K466fs	NMT2_ENST00000378150.1_Frame_Shift_Del_p.K453fs|NMT2_ENST00000540259.1_Frame_Shift_Del_p.K278fs|NMT2_ENST00000535341.1_Frame_Shift_Del_p.K453fs|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	466					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CAAACTTGAGTTTTTCCAAGA	0.338													21	60	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123970690	123970691	+	Frame_Shift_Ins	INS	-	-	G	rs148585687	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:123970690_123970691insG	ENST00000369005.1	+	9	7090_7091	c.6750_6751insG	c.(6748-6753)agggggfs	p.RG2250fs	TACC2_ENST00000515603.1_Frame_Shift_Ins_p.RG2205fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.RG2254fs|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.RG396fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.RG2254fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.RG2250fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.RG396fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2250						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCGGATAGCGGGGGGCAAGA	0.599													9	167	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	145	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73615393	73615394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:73615393_73615394insC	ENST00000261917.3	-	8	4033_4034	c.3040_3041insG	c.(3040-3042)ttcfs	p.F1014fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1014	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TACAGGGGAAGCCCCCCCAGAG	0.713													3	5	---	---	---	---					
WNK4	65266	broad.mit.edu	37	17	40939480	40939481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:40939480_40939481insC	ENST00000246914.5	+	7	1682_1683	c.1661_1662insC	c.(1660-1662)tccfs	p.S554fs	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	554					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCAGTGTCTTCCCCCCTGAGC	0.609													9	319	---	---	---	---					
OTOP2	92736	broad.mit.edu	37	17	72920762	72920763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:72920762_72920763insC	ENST00000331427.4	+	2	127_128	c.35_36insC	c.(34-36)accfs	p.T12fs	OTOP2_ENST00000580223.1_Frame_Shift_Ins_p.T12fs	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	12						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAAGGAGAGCCCCCCGGCGC	0.693													2	4	---	---	---	---					
TSPAN10	83882	broad.mit.edu	37	17	79614933	79614936	+	RNA	DEL	TAAC	TAAC	-	rs137956393		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:79614933_79614936delTAAC	ENST00000328585.4	+	0	771				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAGGTACTTTAACTAACTGCAGC	0.637													10	16	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	43099292	43099293	+	RNA	DEL	AC	AC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:43099292_43099293delAC	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						cactatgcagacacacacacac	0.520													2	4	---	---	---	---