GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00303239 | Esophagus | ESCC | respiratory tube development | 112/8552 | 181/18723 | 7.82e-06 | 7.69e-05 | 112 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:00605417 | Esophagus | ESCC | respiratory system development | 123/8552 | 203/18723 | 1.26e-05 | 1.15e-04 | 123 |
GO:00303249 | Esophagus | ESCC | lung development | 109/8552 | 177/18723 | 1.40e-05 | 1.27e-04 | 109 |
GO:00604257 | Esophagus | ESCC | lung morphogenesis | 37/8552 | 50/18723 | 4.42e-05 | 3.51e-04 | 37 |
GO:00604414 | Esophagus | ESCC | epithelial tube branching involved in lung morphogenesis | 22/8552 | 29/18723 | 9.30e-04 | 4.73e-03 | 22 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:00017639 | Esophagus | ESCC | morphogenesis of a branching structure | 106/8552 | 196/18723 | 1.08e-02 | 3.66e-02 | 106 |
GO:006056222 | Thyroid | ATC | epithelial tube morphogenesis | 156/6293 | 325/18723 | 4.48e-08 | 8.14e-07 | 156 |
GO:003032321 | Thyroid | ATC | respiratory tube development | 93/6293 | 181/18723 | 5.67e-07 | 8.02e-06 | 93 |
GO:003032421 | Thyroid | ATC | lung development | 90/6293 | 177/18723 | 1.53e-06 | 1.88e-05 | 90 |
GO:006054121 | Thyroid | ATC | respiratory system development | 100/6293 | 203/18723 | 2.66e-06 | 3.08e-05 | 100 |
GO:009028721 | Thyroid | ATC | regulation of cellular response to growth factor stimulus | 140/6293 | 304/18723 | 3.91e-06 | 4.33e-05 | 140 |
GO:000176317 | Thyroid | ATC | morphogenesis of a branching structure | 96/6293 | 196/18723 | 5.68e-06 | 6.04e-05 | 96 |
GO:006113815 | Thyroid | ATC | morphogenesis of a branching epithelium | 88/6293 | 182/18723 | 2.55e-05 | 2.20e-04 | 88 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:00487545 | Thyroid | ATC | branching morphogenesis of an epithelial tube | 71/6293 | 151/18723 | 4.18e-04 | 2.50e-03 | 71 |
GO:00458791 | Thyroid | ATC | negative regulation of smoothened signaling pathway | 20/6293 | 32/18723 | 7.67e-04 | 4.24e-03 | 20 |
GO:0008589 | Thyroid | ATC | regulation of smoothened signaling pathway | 40/6293 | 81/18723 | 2.36e-03 | 1.10e-02 | 40 |
GO:0007224 | Thyroid | ATC | smoothened signaling pathway | 60/6293 | 138/18723 | 9.75e-03 | 3.57e-02 | 60 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
HHIP | SNV | Missense_Mutation | novel | c.905N>A | p.Ser302Tyr | p.S302Y | Q96QV1 | protein_coding | tolerated(1) | probably_damaging(0.998) | TCGA-AX-A2H2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | | c.142N>A | p.Leu48Met | p.L48M | Q96QV1 | protein_coding | deleterious(0.01) | possibly_damaging(0.815) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
HHIP | SNV | Missense_Mutation | rs199947660 | c.427G>T | p.Asp143Tyr | p.D143Y | Q96QV1 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.932N>A | p.Ala311Asp | p.A311D | Q96QV1 | protein_coding | tolerated(0.12) | possibly_damaging(0.635) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.16T>C | p.Ser6Pro | p.S6P | Q96QV1 | protein_coding | tolerated_low_confidence(0.29) | benign(0) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1096T>C | p.Tyr366His | p.Y366H | Q96QV1 | protein_coding | tolerated(0.22) | benign(0.037) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | | c.1421N>G | p.Tyr474Cys | p.Y474C | Q96QV1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BK-A0C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1021G>T | p.Val341Phe | p.V341F | Q96QV1 | protein_coding | deleterious(0.03) | benign(0.353) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1417G>T | p.Asp473Tyr | p.D473Y | Q96QV1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1816T>G | p.Ser606Ala | p.S606A | Q96QV1 | protein_coding | tolerated(0.07) | benign(0.033) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |