Supplementary data of the Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders Through Whole Exome Sequencing Analysis work.

This append is divided into two main sections: supplementary data 1 and supplementary data 2.

Supplementary data 1

This section contains the overall description of exome analysis, the group comparison and the variant enrichment analysis.

- Overall Analysis

The overall analysis includes 10 tables and four figures. These data are a descriptive analysis of whole exome sequencing.

Table S1 Distribution of variants from Exome of 12 Syndromic Patients.

Table S2 Distribution of variants from Exome of PASH, PAPASH and PASH/SAPHO groups of patient

Table S5 Distribution of genes carrying variants of 12 patients with Syndromic Skin HS disorder: PASH, PAPASH and PASH/SAPHO.

Table S6 Distribution of genes carrying variants of PASH, PAPASH and PASH/SAPHO groups.

Table S7.1 List of 40 genes carrying at least one FunctVar in papash group

Table S7.2 List of 7 genes carrying at least one FunctVar in pash group

Table S7.3 List of 34 genes carrying at least one FunctVar in sapho group

Table S8.1 List of 40 genes carrying at least one ImpactVar in papash group

Table S8.2 List of 7 genes carrying at least one ImpactVar in pash group

Table S8.3 List of 34 genes carrying at least one ImpactVar in sapho group

Figure S1 Distribution of variant location from Exome Report in 12 Syndromic patients.

Figure S2 Distribution of variant location on groups PASH, PAPASH and PASH/SAPHO.

Figure S3 Distribution of variant function from Exome Report in 12 Syndromic patients.

Figure S4 Distribution of variant function on groups PASH, PAPASH and PASH/SAPHO.

- Group comparison

The Group comparison analysis includes six tables and two figures. These data are a descriptive analysis of whole exome sequencing, comparig each one of studied group

Table S3.1 List of the 54 common FunctVar present on papash patient’s group not common on pash and sapho groups

Table S3.2 List of the 10 common FunctVar present on pash patient’s group not common on papash and sapho groups

Table S3.3 List of the 47 common FunctVar present on sapho patient’s group not common on papash and pash groups

Table S4.1 List of the 491 common ImpactVar present on papash patient’s group not common on pash and sapho groups

Table S4.2 List of the 108 common ImpactVar present on pash patient’s group not common on papash and sapho groups

Table S4.3 List of the 453 common ImpactVar present on sapho patient’s group not common on papash and pash groups

Figure S5 Venn diagram of common FunctVar

Figure S6 Venn diagram of common ImpactVar

- Variant enrichment analysis

The Variant enrichment analysis includes three tables and one figure. These data are from common Enriched pathway in each group.

Table S10.1 List of 15 common Enriched Pathways in PAPASH Group

Table S10.2 List of 25 common Enriched Pathways in PASH Group

Table S10.3 List of 12 common Enriched Pathways in PASH/SAPHO Group

Figure S7 Venn diagram of common filtered (Features) Enriched Pathways per each group

Supplementary data 2

This section contains the VEA of each group and each individual included in the study.

- Group VEA

Table S9.1 List of 33 Enriched Pathways in PAPASH Group

Table S9.2 List of 40 Enriched Pathways in PASH Group

Table S9.3 List of 28 Enriched Pathways in SAPHO Group

- Individual VEA

Box 1 List of individual VEA and counts