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
CDK12	51755	broad.mit.edu	37	17	37619371	37619371	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37619371G>A	uc010cvv.3	+	1	1632	c.1046_splice	c.e1+1	p.S349_splice	CDK12_uc010wef.1_Splice_Site_p.R349_splice|CDK12_uc002hrw.4_Splice_Site_p.S349_splice	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	349					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTCCCCAGGTGAGCTATTT	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			18	43					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40790	40790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrGL000218.1:40790G>T	uc011mfn.2	-	2	229	c.140C>A	c.(139-141)tCg>tAg	p.S47*	LOC100233156_uc003jah.2_Nonsense_Mutation_p.S47*					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CAGGTTGGCCGAGTCCAGGCG	0.672000													3	14					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193305	179193305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179193305C>T	uc003mkm.3	+	1	1557	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	MAML1_uc003mkn.1_Nonsense_Mutation_p.Q432*	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATGGCAGCAGACGGGGCC	0.612000													5	278					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57550233	57550233	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:57550233T>C	uc002elw.3	-	6	1604	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	464										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCTCCTTCTTGAGCTCCTC	0.667000													3	25					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56232402	56232402	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:56232402C>T	uc001sib.3	-	5	1004	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.A213T	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	295	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGCATCATGGCATCCAGTTCA	0.607000													40	36					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62489335	62489335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:62489335G>A	uc003xuj.3	-	15	1414	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ASPH_uc011leg.2_Missense_Mutation_p.A353V|ASPH_uc003xuo.2_Missense_Mutation_p.A363V	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	382					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATACCTGCGCCTTCCCATA	0.378000													37	62					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150667007	150667007	+	Missense_Mutation	SNP	C	C	T	rs142449284	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:150667007C>T	uc003ltx.2	-	6	1050	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	SLC36A3_uc003ltv.2_Missense_Mutation_p.V155M|SLC36A3_uc003ltw.2_Missense_Mutation_p.V170M	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	170						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGGTCACGTGGGCTTTT	0.468000													5	45					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032024	197032024	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:197032024A>G	uc001gtt.1	-	1	272	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	76	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTGTTGTACACGTGGTTT	0.378000													27	136					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915939	72915939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:72915939C>T	uc002jme.1	-	1	1175	c.992G>A	c.(991-993)cGc>cAc	p.R331H	USH1G_uc010wro.1_Missense_Mutation_p.R228H	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	331					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATCCTCGCGGCCCAGTCC	0.677000													6	339					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218520075	218520075	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:218520075T>C	uc001hlm.3	+	0	1400	c.32T>C	c.(31-33)aTc>aCc	p.I11T	TGFB2_uc001hll.3_Missense_Mutation_p.I11T|TGFB2_uc001hln.3_Missense_Mutation_p.I11T|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	11					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTTCTGATCCTGCATCTG	0.443000													9	93					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800112	152800112	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:152800112G>T	uc010pdw.2	+	0	164	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	55	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			TGTGGCTCCAGCTCTGGGGGC	0.667000													12	80					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875239	33875239	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33875239C>T	uc021wck.1	-	3	1461	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.R103H	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCGGGAGCGAGGAAGCAG	0.647000													14	44					0	0	1	0	0
VHDJH	0	broad.mit.edu	37	16	32077613	32077613	+	RNA	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:32077613G>A	uc010vfu.2	+	0		c.44G>A								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		ACAACGCCAAGAACTCACTGT	0.507000													66	831					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105150791	105150791	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:105150791G>A	uc001tkz.3	+	2	767	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_uc001tky.3_Missense_Mutation_p.R85Q	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	90					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582000													3	22					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177909845	177909845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:177909845G>A	uc001glj.1	-	21	2896	c.2030C>T	c.(2029-2031)gCa>gTa	p.A677V	SEC16B_uc001glk.1_Missense_Mutation_p.A353V|SEC16B_uc009wwy.1_Missense_Mutation_p.A231V|SEC16B_uc001glh.1_Missense_Mutation_p.A335V|SEC16B_uc001gli.1_Missense_Mutation_p.A676V|SEC16B_uc009wwz.1_Missense_Mutation_p.A335V	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	676					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGTTTCTCTGCTAGCTGTGC	0.517000													6	27					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678240	66678240	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:66678240A>G	uc002lkk.2	+	8	1556	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	CCDC102B_uc002lki.2_Missense_Mutation_p.T445A	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	445								p.T445S(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCAGAACTGACTCATGCAAA	0.343000													9	42					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600404	131600404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:131600404C>A	uc004bwh.3	-	4	549	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Nonsense_Mutation_p.E122*|CCBL1_uc004bwj.3_Nonsense_Mutation_p.E72*|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Nonsense_Mutation_p.E216*	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	122					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAAAAGGGTTCGATGATGATG	0.532000													17	303					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74804782	74804782	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:74804782T>C	uc021ptk.1	-	7	1137	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	P4HA1_uc010qka.2_Missense_Mutation_p.I369V|P4HA1_uc001jth.3_Intron|P4HA1_uc001jtg.3_Missense_Mutation_p.I369V|P4HA1_uc010qkb.2_Intron|P4HA1_uc021ptj.1_Intron	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	369						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTGTTATTGGGTTTGAA	0.388000													9	53					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192240	41192240	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:41192240C>T	uc001zne.3	+	3	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	408					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	p.R407C(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632000													7	106					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038327	34038327	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34038327C>A	uc002yqh.2	-	16	2188	c.2188G>T	c.(2188-2190)Gct>Tct	p.A730S	SYNJ1_uc011ads.1_Missense_Mutation_p.A686S|SYNJ1_uc002yqf.2_Missense_Mutation_p.A691S|SYNJ1_uc002yqg.2_Missense_Mutation_p.A686S|SYNJ1_uc002yqi.2_Missense_Mutation_p.A730S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	691	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.D730Y(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCCCTGCAGCAAAGTGGCTA	0.428000													6	36					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975100	20975100	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:20975100T>C	uc010vbe.2	-	52	10106	c.10106A>G	c.(10105-10107)gAc>gGc	p.D3369G	DNAH3_uc010vbd.2_Missense_Mutation_p.D804G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3369					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D3369N(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTAGCTTGTCCTTCTCAAA	0.488000													5	121					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104442877	104442877	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:104442877T>C	uc003yln.3	+	5	1395	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	DCAF13_uc003ylm.1_Missense_Mutation_p.I106T	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	221					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GACAGGAATATAGTACTGTAC	0.368000													66	113					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283001	33283001	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:33283001G>A	uc003oeb.3	-	1	1845	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.R565C|ZBTB22_uc021ywm.1_Missense_Mutation_p.R565C	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTGCCGGCGCTCACAGTGT	0.672000													8	63					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011306	141011306	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:141011306C>T	uc003etu.3	+	7	1001	c.702C>T	c.(700-702)caC>caT	p.H234H	ACPL2_uc003etv.3_Silent_p.H234H|ACPL2_uc011bna.2_Silent_p.H196H|ACPL2_uc011bnb.2_Silent_p.H217H	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	234						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATTTCAGGCACCAGCCAAGTG	0.488000													5	60					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64897328	64897328	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:64897328G>C	uc001odb.3	-	13	1562	c.1468C>G	c.(1468-1470)Cga>Gga	p.R490G	SYVN1_uc001odc.3_Missense_Mutation_p.R489G|SYVN1_uc009yqc.3_Missense_Mutation_p.R438G	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	490					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGAGCTCGTAGCTCCTCT	0.662000													16	37					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:11907408C>T	uc001ati.3	-	1	311	c.212G>A	c.(211-213)gGg>gAg	p.G71E	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	71					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602000													7	75					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245852063	245852063	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:245852063C>A	uc001ibf.1	+	11	6218	c.5778C>A	c.(5776-5778)ggC>ggA	p.G1926G	KIF26B_uc001ibg.1_Silent_p.G1544G|KIF26B_uc001ibh.1_Silent_p.G1168G	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1926					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCGTGGGCGGCAGGTGCC	0.716000													10	21					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855601	12855601	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12855601C>A	uc001auj.2	+	3	984	c.881C>A	c.(880-882)cCc>cAc	p.P294H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	294								p.P294S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463000													11	138					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576638	158576638	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:158576638A>G	uc010pio.2	+	0	410	c.410A>G	c.(409-411)aAt>aGt	p.N137S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCACATGAATCCTACCCTC	0.512000													29	64					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46692051	46692051	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:46692051C>T	uc002inw.3	-	0	251	c.16G>A	c.(16-18)Gtc>Atc	p.V6I		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						AGTGAGTTGACGAAATAAGAG	0.592000													6	22					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50369276	50369276	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:50369276C>G	uc001rvr.1	+	3	1364	c.671C>G	c.(670-672)gCc>gGc	p.A224G	AQP6_uc001rvp.1_Missense_Mutation_p.A50G|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	224					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGATGGGAGCCCTCCTGGCC	0.637000													7	216					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209171	70209171	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:70209171G>A	uc002lku.2	-	1	460	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CBLN2_uc002lkv.2_Silent_p.D75D	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	75						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGACGGCGCCGTCCGCCGACG	0.706000													14	13					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187157946	187157946	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:187157946G>T	uc003iyy.3	+	4	411	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.D76Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	114	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGCCATCGAGACATTTATAA	0.373000													31	41					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748667	151748667	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:151748667C>T	uc009wnb.1	-	7	1304	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TDRKH_uc001eyy.2_Silent_p.R150R|TDRKH_uc001ezb.4_Silent_p.R370R|TDRKH_uc001ezc.4_Silent_p.R329R|TDRKH_uc001eza.4_Silent_p.R374R|TDRKH_uc001ezd.4_Silent_p.R374R|TDRKH_uc010pdn.1_Silent_p.R150R	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	374	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCGAGGACCCGGGCTCGAT	0.507000													7	76					0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129985	190129985	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:190129985T>A	uc001gse.1	-	6	1229	c.997A>T	c.(997-999)Aat>Tat	p.N333Y	FAM5C_uc010pot.1_Missense_Mutation_p.N231Y	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	333						extracellular region		p.M332I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGGAAATAATTCATAGGTAGC	0.299000													17	44					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21110078	21110078	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:21110078C>T	uc021uie.1	+	16	1702	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	C18orf8_uc010xay.2_Silent_p.L151L|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	527	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACGTCCTCAGCGACTCCA	0.403000													37	242					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784292	160784292	+	Silent	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:160784292C>G	uc001fwu.3	+	3	863	c.813C>G	c.(811-813)ctC>ctG	p.L271L	LY9_uc010pjs.1_Silent_p.L271L|LY9_uc001fwv.3_Silent_p.L271L|LY9_uc001fww.3_Silent_p.L271L|LY9_uc001fwy.1_Silent_p.L173L|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	271	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGCACTCCCAGCCTGCC	0.547000													28	74					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41282353	41282353	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:41282353C>T	uc003azh.3	+	3	727	c.626C>T	c.(625-627)cCc>cTc	p.P209L	XPNPEP3_uc011aox.2_Missense_Mutation_p.P209L|XPNPEP3_uc003azi.3_Missense_Mutation_p.P130L|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	209					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGATGAGGCCCTCACATGCA	0.458000													37	56					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092708	39092708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:39092708G>A	uc002hvm.1	-	1	737	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50W|KRT23_uc002hvn.1_Missense_Mutation_p.R50W	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	50	Head.					intermediate filament	structural molecule activity	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCAGCTCCGCGTGGTGAAG	0.687000													7	147					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:20414346G>A	uc003zoe.2	-	4	757	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	58					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73145426	73145426	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:73145426G>A	uc002sin.1	+	0	823	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_004097	NP_004088	Q04741	EMX1_HUMAN	Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						CTCCTTCTTCGGCGCCCAGCA	0.706000													5	41					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904120	21904120	+	RNA	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:21904120C>T	uc002gza.2	+	0		c.59C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tgccaggagtcgcaaggggcc	0.687000													5	91					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202227	56202227	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:56202227A>T	uc002lhj.4	-	4	5406	c.5192T>A	c.(5191-5193)aTt>aAt	p.I1731N	ALPK2_uc002lhk.1_Missense_Mutation_p.I1062N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1731							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGACAAAATTTTCTTCTT	0.488000													19	108					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328565	48328565	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:48328565C>A	uc010rhu.2	+	0	791	c.791C>A	c.(790-792)gCt>gAt	p.A264D		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCACCCTGGCTGCTGACAAA	0.478000													6	167					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391807	139391807	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:139391807C>T	uc004chz.3	-	33	6384	c.6384G>A	c.(6382-6384)ccG>ccA	p.P2128P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2128					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCCAGCGGGGCTCCGT	0.706000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	61					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155119202	155119202	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrX:155119202T>C	uc004fnr.3	+	1	251	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	VAMP7_uc011naa.2_Silent_p.T7T|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.F25L|VAMP7_uc004fns.3_Missense_Mutation_p.F25L|VAMP7_uc011nac.2_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	25	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGGAAACTTCCTGGAGGT	0.453000													15	69					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564645	179564645	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179564645C>T	uc003mlq.3	-	1	542	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RASGEF1C_uc003mlr.3_Missense_Mutation_p.R82Q|RASGEF1C_uc003mlp.4_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	82	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGACCCGGGCCAGGAG	0.637000													7	48					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074327	143074327	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:143074327A>G	uc003qjd.3	-	9	8001	c.7258T>C	c.(7258-7260)Ttg>Ctg	p.L2420L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAAAGTCCAACTGCTTGTCA	0.428000													10	246					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432774	117432774	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:117432774C>T	uc003vjf.3	-	3	568	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	159										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCTCAAGGCGGGCAGCCAG	0.507000													8	110					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906107	5906107	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:5906107G>T	uc010qzs.2	+	0	585	c.585G>T	c.(583-585)aaG>aaT	p.K195N	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCATTAAGATCAACATAA	0.453000													13	161					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150414	14150414	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:14150414G>C	uc002mxx.3	+	2	736	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	105					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAACTCCTTGTCTGGGGCAC	0.607000													29	91					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265435	10265435	+	Splice_Site	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:10265435C>A	uc002gmk.1	-	5	595	c.505_splice	c.e5+1	p.D169_splice		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	169	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTACTCACCAGTCAGCATG	0.468000													8	188					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110814199	110814199	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:110814199G>T	uc003kpf.3	+	8	1057	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CAMK4_uc010jbv.3_Missense_Mutation_p.K77N	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	274	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAATGCCAAGGACTTGGTAA	0.303000													9	35					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7842864	7842864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7842864G>T	uc002gjp.3	+	8	1911	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CNTROB_uc002gjq.3_Nonsense_Mutation_p.E321*|CNTROB_uc002gjr.3_Nonsense_Mutation_p.E223*|CNTROB_uc010vum.1_Nonsense_Mutation_p.E33*	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	321					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCTGAGGTTGGAGGCAGAACA	0.582000													24	110					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60435606	60435606	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:60435606T>G	uc001vht.3	-	21	2891	c.2672A>C	c.(2671-2673)gAa>gCa	p.E891A	DIAPH3_uc001vhu.3_Missense_Mutation_p.E628A|DIAPH3_uc001vhv.3_Missense_Mutation_p.E469A	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	891	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTCTCTTCACATATTTC	0.368000													7	58					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18709695	18709695	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:18709695G>A	uc010ebt.2	-	2	608	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	138	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGATGTTGACGGGTTTCTCTG	0.632000													15	78					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358721	72358721	+	Silent	SNP	G	G	A	rs150053969		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:72358721G>A	uc009xqg.3	-	2	917	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRF1_uc001jrf.4_Silent_p.N252N	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	252	MACPF.		N -> S (in FHL2; dbSNP:rs28933375).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCCACCTCGTTGTCCGTGA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				11	69					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241713007G>T	uc009xgp.3	+	2	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_uc001hyy.3_Missense_Mutation_p.R92I|KMO_uc009xgo.2_Missense_Mutation_p.R92I	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	52					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity	p.R52I(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACACGTGGAAGAAGCATTAAC	0.423000													25	92					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405095	105405095	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105405095C>A	uc010axc.1	-	6	16813	c.16693G>T	c.(16693-16695)Gat>Tat	p.D5565Y	AHNAK2_uc021sen.1_Missense_Mutation_p.D962Y|AHNAK2_uc021seo.1_Missense_Mutation_p.D563Y|AHNAK2_uc001ypx.2_Missense_Mutation_p.D5465Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5565						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTGGAGATCTCCAGAAATG	0.502000													5	32					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816063	23816063	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:23816063C>T	uc003gqs.3	-	7	1163	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	348					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.G348R(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTCCGGCCCTTTCTTGGT	0.532000													26	53					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921640	130921640	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:130921640G>T	uc001uil.2	-	9	2018	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q	RIMBP2_uc001uim.3_Missense_Mutation_p.P509Q	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	601	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACTTGCTAATGGCTTTGATTG	0.652000													4	14					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35884163	35884163	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:35884163C>T	uc001byt.3	+	28	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_uc009vuu.3_Silent_p.L1445L|ZMYM4_uc001byu.3_Silent_p.L1153L|ZMYM4_uc009vuv.3_Silent_p.L1216L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1477					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413000													4	50					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700314	33700314	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:33700314G>A	uc001uuw.3	-	6	2112	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	STARD13_uc001uuu.3_Silent_p.G654G|STARD13_uc001uuv.3_Silent_p.G544G|STARD13_uc001uux.3_Silent_p.G627G|STARD13_uc021rhz.1_Silent_p.G654G|STARD13_uc021ria.1_Silent_p.G544G	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	662					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGAGAGGAACGCCAAAGACAG	0.488000													26	158					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681558	44681558	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:44681558G>C	uc003bet.2	-	3	482	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	117						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATACAAAAGGTCCAGAACC	0.532000													53	268					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24617597	24617597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:24617597G>A	uc001wmn.1	+	2	719	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	157	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGCTGCTTCGGACAGAGCTC	0.547000													12	38					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	rs140736402	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:25481559C>T	uc002wux.1	-	7	1023	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_uc010gdn.1_Missense_Mutation_p.D317N|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.D333N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	317					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582000													5	64					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803627	803627	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:803627G>A	uc002lpr.2	+	2	212	c.106G>A	c.(106-108)Gct>Act	p.A36T	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.A36T|PTBP1_uc002lpq.2_Missense_Mutation_p.A36T|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	36					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAACTCGGCTTCTGCAGG	0.547000													4	125					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122700259	122700259	+	Silent	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:122700259T>C	uc003ktk.3	-	18	2627	c.2511A>G	c.(2509-2511)gcA>gcG	p.A837A	CEP120_uc010jcz.2_Silent_p.A811A|CEP120_uc011cwq.2_Silent_p.A646A	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	837						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAGACTTAGTTGCAGATTCCA	0.338000													13	63					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:18937327C>T	uc002dfm.3	-	0	400	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	13	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736000													3	21					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000													3	19					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993363	993363	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:993363C>T	uc021qss.1	+	17	5221	c.4578C>T	c.(4576-4578)agC>agT	p.S1526S	WNK1_uc001qio.4_Silent_p.S1266S|WNK1_uc021qst.1_Silent_p.S1518S|WNK1_uc001qip.4_Silent_p.S1019S|WNK1_uc001qir.4_Silent_p.S439S	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1266					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCCAGAAAGCCGATTACGAG	0.408000													4	139					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799876	85799876	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:85799876G>T	uc003yct.4	+	7	896	c.762G>T	c.(760-762)ctG>ctT	p.L254L	RALYL_uc003ycq.4_Silent_p.L241L|RALYL_uc003ycr.4_Silent_p.L241L|RALYL_uc003ycs.4_Silent_p.L241L|RALYL_uc010lzy.3_Silent_p.L230L|RALYL_uc003ycu.4_Silent_p.L168L	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	241							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCTAGTGCTGATCCAAGAGG	0.498000													15	108					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160483	38160483	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:38160483G>A	uc002ogy.2	-	3	1309	c.567C>T	c.(565-567)ctC>ctT	p.L189L	ZNF781_uc002ogz.2_Silent_p.L184L|ZNF781_uc021utu.1_Silent_p.L189L	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	Homo sapiens zinc finger protein 781 (ZNF781), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CTCTGGTGTTGAGTAAGTGTT	0.368000													12	68					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785550	209785550	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:209785550C>A	uc001hhd.3	+	10	1431	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	CAMK1G_uc001hhf.4_Silent_p.A443A|CAMK1G_uc001hhe.3_Silent_p.A443A	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	443			A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).			Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A443T(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCAAAAAGGCCAACAAAAAAC	0.527000													8	56					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58370783	58370783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:58370783C>T	uc002qql.3	+	2	1229	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	ZNF587_uc002qqb.2_Nonsense_Mutation_p.Q292*|ZNF587_uc002qqi.2_Nonsense_Mutation_p.Q292*|ZNF587_uc010yhh.2_Nonsense_Mutation_p.Q292*|ZNF587_uc021vco.1_Nonsense_Mutation_p.Q335*|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Nonsense_Mutation_p.Q334*|ZNF587_uc021vcq.1_5'Flank	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCTTTTGGTCAAAAGGGTAA	0.443000													32	75					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113782	94113782	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:94113782A>T	uc001pet.2	-	3	977	c.805T>A	c.(805-807)Tgt>Agt	p.C269S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	269						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCATATTACACAGCCACAGT	0.522000													26	25					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380242	147380242	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:147380242T>C	uc021ovm.1	+	0	160	c.160T>C	c.(160-162)Tgc>Cgc	p.C54R	GJA8_uc001epu.2_Missense_Mutation_p.C54R	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	54					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.V53M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGACTTCGTGTGCAACACCCA	0.592000													5	60					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395392	94395392	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:94395392A>G	uc001ybz.2	+	2	1272	c.947A>G	c.(946-948)cAc>cGc	p.H316R	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.H254R|FAM181A_uc021saz.1_Missense_Mutation_p.H254R|FAM181A_uc010aus.2_Missense_Mutation_p.H254R|FAM181A_uc001yca.2_Missense_Mutation_p.H254R	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	316								p.H316Y(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAGCTGGCGCACCTCTGCAAG	0.667000													15	57					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337674	33337674	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33337674T>C	uc002xav.3	-	9	4895	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	NCOA6_uc002xaw.3_Missense_Mutation_p.N775S|NCOA6_uc021wcd.1_Missense_Mutation_p.N775S|NCOA6_uc021wce.1_Missense_Mutation_p.N775S|NCOA6_uc021wcf.1_Missense_Mutation_p.N775S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	775	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGATGGACTGTTGTTCACAGG	0.557000													10	57					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140267046	140267046	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:140267046T>G	uc010lnk.3	-	8	2139	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.K540T|DENND2A_uc003vvw.3_Missense_Mutation_p.K540T|DENND2A_uc003vvx.3_Missense_Mutation_p.K540T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	540										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCGGGACTTCACGTTGAC	0.562000													11	76					0	0	1	0	0
VDAC1	7416	broad.mit.edu	37	5	133326754	133326754	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:133326754G>A	uc003kyp.2	-	3	532	c.209C>T	c.(208-210)aCg>aTg	p.T70M	VDAC1_uc003kyq.2_Missense_Mutation_p.T70M|VDAC1_uc003kyr.2_Missense_Mutation_p.T70M	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	70					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTCTGTAAACGTCAGGCCGTA	0.458000													20	124					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7137547	7137547	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7137547C>T	uc002gez.1	-	0	317	c.35G>A	c.(34-36)gGg>gAg	p.G12E	DVL2_uc010vtr.1_Missense_Mutation_p.G12E|DVL2_uc010clz.1_Missense_Mutation_p.G12E	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	12	DIX.|Poly-Gly.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667000													8	100					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99901591	99901591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:99901591C>T	uc002bva.1	+	7	901	c.746C>T	c.(745-747)tCa>tTa	p.S249L	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.S95L|LRRC28_uc010urt.1_Missense_Mutation_p.S63L|LRRC28_uc002bvc.1_Missense_Mutation_p.S249L|LRRC28_uc010uru.1_Missense_Mutation_p.S180L|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	249										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCTTTTCATCAGGGCAGCGA	0.488000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	16					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A	rs4041777		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000													4	22					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148786095	148786095	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:148786095G>T	uc003ilf.3	+	5	585	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	195	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378000													14	41					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417809	169417809	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:169417809G>A	uc002uec.1	+	2	508	c.384G>A	c.(382-384)acG>acA	p.T128T	CERS6_uc002ueb.1_Silent_p.T128T	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	128						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCCAAGCACGCTGACGAGGT	0.448000													71	48					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241912941	241912941	+	Missense_Mutation	SNP	C	C	T	rs76254601	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241912941C>T	uc001hzg.2	+	12	1864	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	WDR64_uc021plh.1_Missense_Mutation_p.R347C|WDR64_uc021pli.1_Missense_Mutation_p.R273C	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	553										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGCCTACGACGCCTCATTTT	0.532000													29	83					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228379	21228379	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:21228379G>A	uc002red.3	-	25	11489	c.11361C>T	c.(11359-11361)ccC>ccT	p.P3787P		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3787					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTTTACCTCGGGGAGTGTTG	0.398000													94	103					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170843819	170843819	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:170843819C>T	uc003fhh.2	-	16	2240	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	TNIK_uc003fhi.2_Missense_Mutation_p.R577H|TNIK_uc003fhj.2_Missense_Mutation_p.R603H|TNIK_uc003fhk.2_Missense_Mutation_p.R632H|TNIK_uc003fhl.2_Missense_Mutation_p.R548H|TNIK_uc003fhm.2_Missense_Mutation_p.R577H|TNIK_uc003fhn.2_Missense_Mutation_p.R603H|TNIK_uc003fho.2_Missense_Mutation_p.R548H	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	632	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCTCCACGCGGTGGGAGGT	0.577000													40	63					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12030871	12030871	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12030871A>G	uc010obb.2	+	17	2154	c.2041A>G	c.(2041-2043)Agg>Ggg	p.R681G	PLOD1_uc001atm.3_Missense_Mutation_p.R634G	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	634	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTACTACACCAGGGTGGGCAA	0.607000													3	36					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186648456	186648456	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:186648456G>T	uc001gsb.3	-	1	304	c.167C>A	c.(166-168)aCa>aAa	p.T56K	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	56					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	AAACTTACGTGTTGAGCAGTT	0.428000													4	64					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8120328	8120328	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:8120328T>C	uc001mga.3	+	8	1171	c.1022T>C	c.(1021-1023)tTc>tCc	p.F341S	TUB_uc010rbk.2_Missense_Mutation_p.F347S|TUB_uc001mfy.3_Missense_Mutation_p.F396S	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	341					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCACCAAGTTCACTGTTTAT	0.502000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	144					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264042	48264042	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48264042G>T	uc002iqm.3	-	47	3899	c.3773C>A	c.(3772-3774)aCc>aAc	p.T1258N	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1258	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTCACGGCAGGTGCGGGCGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						16	148					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417976	105417976	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105417976G>A	uc010axc.1	-	6	3932	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1171L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCAGCTTGGGGCCCCTGAC	0.622000													6	220					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823024	70823024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:70823024G>A	uc003hes.4	-	4	656	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	CSN2_uc003het.4_Nonsense_Mutation_p.Q214*	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	215				TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCAAGTGGCTGAGTCACAGGG	0.463000													4	54					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:167095768G>A	uc001geb.1	+	4	1416	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R467H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652000													3	33					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359718	52359718	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:52359718C>A	uc003xqu.4	-	11	1472	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	457	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCTGCCCTCCTGCAA	0.517000													6	111					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163899929	163899929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:163899929G>T	uc003qui.3	+	3	953	c.402_splice	c.e3+1	p.K134_splice	QKI_uc003quj.3_Splice_Site_p.K134_splice|QKI_uc003quh.3_Splice_Site_p.K134_splice|QKI_uc003que.3_Splice_Site_p.K134_splice|QKI_uc003quf.3_Splice_Site_p.K134_splice|QKI_uc003qug.3_Splice_Site_p.K134_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	134	KH.				RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAAAAAAAAGGTAAGTCCTTG	0.348000													9	42					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:2775056C>T	uc002wgu.3	-	13	2059	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H	CPXM1_uc010gas.3_Missense_Mutation_p.R588H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	662					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602000													9	43					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126783459	126783459	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:126783459G>A	uc010mwi.1	+	3	1572	c.833G>A	c.(832-834)cGc>cAc	p.R278H	LHX2_uc004boe.1_Missense_Mutation_p.R270H	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	270						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCGCATGCGCACGTCCTTC	0.572000													7	92					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946728	6946728	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:6946728G>A	uc001qra.1	+	11	1733	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	GPR162_uc001qrb.1_Missense_Mutation_p.A375T	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GTGCCGCAGCGCCATAGAAGG	0.677000													3	10					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22724333	22724333	+	RNA	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:22724333T>C	uc021wml.1	+	44		c.5194T>C								Parts of antibodies, mostly variable regions.																		CAACAAACACTCCTGGACACC	0.562000													5	29					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257856	158257856	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:158257856T>A	uc003ipm.4	+	10	2260	c.1801T>A	c.(1801-1803)Tcc>Acc	p.S601T	GRIA2_uc011cit.2_Missense_Mutation_p.S554T|GRIA2_uc003ipl.4_Missense_Mutation_p.S601T|GRIA2_uc003ipk.4_Missense_Mutation_p.S554T|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S601F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTCTGGTTTTCCTTGGGTGC	0.428000													22	137					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418650	105418650	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105418650G>A	uc010axc.1	-	6	3258	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L946L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1046						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.617000													36	181					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5214707	5214707	+	Silent	SNP	G	G	A	rs144200009	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:5214707G>A	uc002mbv.3	-	28	4593	c.4359C>T	c.(4357-4359)gaC>gaT	p.D1453D	PTPRS_uc002mbu.1_Silent_p.D1022D|PTPRS_uc010xin.2_Silent_p.D995D|PTPRS_uc002mbw.3_Silent_p.D1415D|PTPRS_uc002mbx.3_Silent_p.D1010D|PTPRS_uc002mby.3_Silent_p.D1006D	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1453	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACCGGTAGCCGTCCACGTAGT	0.612000													3	34					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													5	40					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17835965	17835965	+	Silent	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:17835965T>G	uc002nhe.1	+	3	420	c.411T>G	c.(409-411)ccT>ccG	p.P137P	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Silent_p.P111P	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	137	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCTTCTCGCCTCACCACTTCC	0.607000													5	121					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636284	44636284	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:44636284A>G	uc002oyj.1	+	4	1760	c.1517A>G	c.(1516-1518)cAc>cGc	p.H506R	ZNF225_uc010ejf.1_Missense_Mutation_p.H506R	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTAGAGTCCACAGTGGAGAA	0.378000													13	98					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:104173704C>T	uc001kvg.1	-	4	1902	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_uc001kvh.1_Missense_Mutation_p.A80T|PSD_uc009xxd.1_Missense_Mutation_p.A459T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.M458I(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657000													12	141					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747660	167747660	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:167747660C>G	uc011bpe.1	-	9	1685	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H	GOLIM4_uc003ffe.2_Missense_Mutation_p.Q447H|GOLIM4_uc011bpf.1_Missense_Mutation_p.Q419H|GOLIM4_uc011bpg.1_Missense_Mutation_p.Q419H	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	447	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gctgctgttcctgctgccgta	0.647000													19	92					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167995897	167995897	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:167995897T>A	uc003lzz.2	-	1	461	c.135A>T	c.(133-135)ttA>ttT	p.L45F		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	45					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GAATACTTTTTAAACTCTCAA	0.413000													8	115					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577338	109577338	+	Missense_Mutation	SNP	C	C	A	rs142445607	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:109577338C>A	uc001tob.3	+	1	247	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	ACACB_uc001toc.3_Missense_Mutation_p.P43Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	43					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACCTCATCCCGAGCCAGGAG	0.542000													5	142					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701641	103701641	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:103701641C>A	uc001vpy.4	-	4	1514	c.917G>T	c.(916-918)gGa>gTa	p.G306V		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	306					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCCTTACATCCTAAGAATAT	0.428000													20	87					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333044	42333044	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:42333044G>T	uc002igf.4	-	13	1946	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	599	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCTGACCTTGCCAGGGAAAT	0.577000													8	62					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962486	119962486	+	Splice_Site	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:119962486C>T	uc011bjf.2	-	2	613	c.233_splice	c.e2+1	p.R78_splice	GPR156_uc011bjg.2_Splice_Site_p.R78_splice	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	78						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTGCTTACCTGTTCTTCC	0.433000													56	79					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	A	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000													4	70					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505340	101505340	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:101505340G>A	uc010svm.1	+	24	2875	c.2303_splice	c.e24-1	p.G768_splice	ANO4_uc001thw.2_Splice_Site_p.G733_splice|ANO4_uc001thx.2_Splice_Site_p.G768_splice|ANO4_uc001thy.2_Splice_Site_p.G288_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	768						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATTTGAATAGGAATTTGGTA	0.333000										HNSCC(74;0.22)			17	36					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12673405	12673405	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:12673405C>A	uc002kri.3	-	11	2095	c.1939G>T	c.(1939-1941)Gtt>Ttt	p.V647F	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Missense_Mutation_p.V469F|CEP76_uc010wzz.2_Missense_Mutation_p.V572F	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	647					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATCCAAACAGCACATGCA	0.378000													20	95					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47426763	47426763	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:47426763C>G	uc001wwj.4	-	8	2061	c.1903G>C	c.(1903-1905)Gcc>Ccc	p.A635P	MDGA2_uc001wwi.4_Missense_Mutation_p.A337P|MDGA2_uc010ani.3_Missense_Mutation_p.A126P|SNORA25_uc021rsl.1_5'Flank	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	566					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTGGATAGGCTCTCAGTACT	0.473000													20	73					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263140	48263140	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48263140G>A	uc002iqm.3	-	50	4374	c.4248_splice	c.e50+1	p.T1416_splice	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1416	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGCACTCACCGTGCAGCCATC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	59					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102484976	102484976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:102484976C>T	uc003kod.4	+	7	1384	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Nonsense_Mutation_p.R289*|PPIP5K2_uc010jbo.2_Nonsense_Mutation_p.R211*	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	289					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAATGCACGAGAGAAATT	0.378000													12	58					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417821	54417821	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:54417821A>C	uc002qcr.2	+	1	359	c.264A>C	c.(262-264)gaA>gaC	p.E88D	CACNG7_uc010era.2_Missense_Mutation_p.E88D	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTGACGGAAAACACGGAGA	0.547000													9	59					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690150	75690150	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:75690150G>A	uc002fet.2	+	2	987	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	281	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AACTATGTGTGATGATGATCC	0.433000													34	55					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409473	105409473	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105409473G>T	uc010axc.1	-	6	12435	c.12315C>A	c.(12313-12315)gcC>gcA	p.A4105A	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A4005A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4105						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGCTCTCGGGGCCTGGACGT	0.577000													147	233					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1363509	1363510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:1363509_1363510insT	uc003boz.3	+	7	1204_1205	c.937_938insT	c.(937-939)attfs	p.I313fs	CNTN6_uc011asj.2_Frame_Shift_Ins_p.I241fs|CNTN6_uc003bpa.3_Frame_Shift_Ins_p.I313fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	313					Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGTCAACTCATTTTTTATGGT	0.351													34	80	---	---	---	---					
ITPR1	3708	broad.mit.edu	37	3	4808388	4808388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:4808388delA	uc003bqc.3	+	43	6024	c.5674delA	c.(5674-5676)aaafs	p.K1892fs	ITPR1_uc021wsi.1_Frame_Shift_Del_p.K1859fs|ITPR1_uc021wsj.1_Frame_Shift_Del_p.K1844fs|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1907					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCATCACGGAAAAAAGGTAA	0.428													7	35	---	---	---	---					
ADAM29	11086	broad.mit.edu	37	4	175898787	175898788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:175898787_175898788insA	uc003iuc.3	+	4	2781_2782	c.2111_2112insA	c.(2110-2112)atafs	p.I704fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.I704fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.I704fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.I704fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.I704fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	704					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTAAACCAATAAAAAAGCAGC	0.342													8	53	---	---	---	---					
TSTD2	158427	broad.mit.edu	37	9	100389704	100389705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:100389704_100389705insT	uc004axn.3	-	1	628_629	c.140_141insA	c.(139-141)aagfs	p.K47fs	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'Flank	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	47										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ACGAGTATTTCTTTTTTGTACT	0.342													23	70	---	---	---	---					
GPAM	57678	broad.mit.edu	37	10	113920533	113920534	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:113920533_113920534insA	uc009xxy.2	-	15	1797_1798	c.1587_1588insT	c.(1585-1590)tcagaafs	p.S529fs	GPAM_uc001kzp.3_Frame_Shift_Ins_p.S529fs|GPAM_uc001kzq.1_Frame_Shift_Ins_p.S529fs	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	529					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTACATCTTCTGAATTTCCTG	0.446													18	45	---	---	---	---					
ZDHHC24	254359	broad.mit.edu	37	11	66307206	66307206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:66307206delG	uc001oin.1	-	2	846	c.649delC	c.(649-651)catfs	p.H217fs	ZDHHC24_uc009yrg.2_Intron	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN	Homo sapiens zinc finger, DHHC-type containing 24 (ZDHHC24), mRNA.	217	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGCATCCCATGGAAGAGCAGC	0.652													12	26	---	---	---	---					
CRIP1	1396	broad.mit.edu	37	14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105954583delG	uc001yri.4	+	2	235	c.121delG	c.(121-123)gggfs	p.G41fs	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	41	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652													10	94	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:90320135_90320146delGGGCAGGGGCAG	uc002bon.3	+	0	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													4	4	---	---	---	---					
RPL19	6143	broad.mit.edu	37	17	37357515	37357517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37357515_37357517delAAG	uc002hrq.1	+	1	117_119	c.55_57delAAG	c.(55-57)aagdel	p.K21del		NM_000981	NP_000972	P84098	RL19_HUMAN	Homo sapiens ribosomal protein L19 (RPL19), mRNA.	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CCGCTGTGGCAAGAAGAAGGTCT	0.493													18	127	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37627847	37627860	+	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	ACTCACTCAAAGAC	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37627847_37627860delACTCACTCAAAGAC	uc010cvv.3	+	1	2348_2361	c.1762_1775delACTCACTCAAAGAC	c.(1762-1776)actcactcaaagacafs	p.T588fs	CDK12_uc010wef.1_Frame_Shift_Del_p.T587fs|CDK12_uc002hrw.4_Frame_Shift_Del_p.T588fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	588					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG	0.491			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			78	170	---	---	---	---					
SON	6651	broad.mit.edu	37	21	34922689	34922689	+	Frame_Shift_Del	DEL	G	G	-	rs140536115		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34922689delG	uc002yse.1	+	2	1201	c.1152delG	c.(1150-1152)ccgfs	p.P384fs	SON_uc002ysb.1_Frame_Shift_Del_p.P384fs|SON_uc002ysc.3_Frame_Shift_Del_p.P384fs|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Frame_Shift_Del_p.P30fs|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	384					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTTGCCGGGGCCACCTG	0.642													24	103	---	---	---	---					
ZDHHC8P1	150244	broad.mit.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:23742494_23742495insG	uc002zxa.4	-	2		c.641_642insC			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		GGGCAGTGCATGGGGGGGCAAA	0.663													7	22	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37480809	37480809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:37480809delG	uc003aqt.1	-	8	1106	c.1044delC	c.(1042-1044)cccfs	p.P348fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.P357fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.P348fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	357	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGTAGTAGCTGGGGAAGTACG	0.637													2	4	---	---	---	---					
