diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
index 64e04bfd..cc5bf627 100644
--- a/data/STRchive-citations.json
+++ b/data/STRchive-citations.json
@@ -165894,10 +165894,10 @@
"note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
},
{
- "id": "omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
+ "id": "omim:607136",
"manubot_success": false,
- "link": "https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438. Skipping"
+ "link": "https://omim.org/entry/607136",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
},
{
"id": "omim:187500",
@@ -165965,6 +165965,12 @@
"link": "https://www.ncbi.nlm.nih.gov/books/NBK1229",
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1229']' timed out after 3 seconds"
},
+{
+ "id": "genereviews:NBK1438",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438']' timed out after 3 seconds"
+},
{
"id": "isbn:978-3-031-66932-3",
"manubot_success": false,
@@ -165982,12 +165988,6 @@
"link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
"note": "WARNING: Couldn't parse Manubot response: list index out of range"
},
-{
- "id": "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
{
"id": "pmid:39666847",
"manubot_success": false,
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 3cd1c9aa..5bb76c27 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -1443,12 +1443,12 @@
"orphanet": [],
"gnomad": ["CSNK1E"],
"stripy": [],
- "tr_atlas": ["TR344468"],
+ "tr_atlas": ["TR344466"],
"webstr_hg38": [],
"webstr_hg19": [],
"locus_tags": [],
"disease_tags": ["epilepsy"],
- "references": ["pmid:40751262", "pmid:39107278", "pmid: 39107278"],
+ "references": ["pmid:40751262", "pmid:39107278"],
"additional_literature": []
},
{
@@ -2099,7 +2099,7 @@
"typ_age_onset_min": 0.0,
"typ_age_onset_max": 0.0,
"details": "14 repeats appears highly constrained in humans: homozygous expansions from 14 polyalanines to 19 leads to disease, which can be limited to isolated palpebral defects [@pmid:15591279]. Heterozygous expansions to 24 polyalanines also lead to disease [@pmid:15591279]. Locus start can differ between catalogs, which can affect genotyping.",
- "detection": null,
+ "detection": "These expansions are generally within the standard short-read sequencing flanking region and show up with dedicated STR callers, though allelic dropout has been reported [@pmid:42100494]. PCR based assays with subsequent capillary have accurately detected this expansion when used with a GC-enhancing co solvent [@pmid:31077882].",
"mechanism": "GoF/LoF",
"mechanism_detail": "Polyalanine expansion leads to haploinsufficiency, likely due to decreased protein availability due to mislocalization following nuclear inclusion [@genereviews:NBK1441; @pmid:15591279]",
"year": "2003 [@pmid:12529855]",
@@ -3082,10 +3082,10 @@
"mechanism_detail": "Toxic protein product accumulates in kidneys [@genereviews:NBK153723]",
"year": "2013 [@pmid:23396133]",
"location_in_gene": "Coding Exon 2",
- "gene_strand": "+",
+ "gene_strand": "-",
"reference_motif_reference_orientation": ["GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG"],
- "pathogenic_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"],
- "benign_motif_reference_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"],
+ "pathogenic_motif_reference_orientation": ["CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT"],
+ "benign_motif_reference_orientation": ["CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT"],
"unknown_motif_reference_orientation": [],
"interruption_reference_orientation": [],
"pathogenic_motif_gene_orientation": ["ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG"],
@@ -3099,7 +3099,7 @@
"intermediate_max": null,
"pathogenic_min": null,
"pathogenic_max": null,
- "motif_len": 1,
+ "motif_len": 61,
"ref_copies": null,
"novel": "ref",
"gard": ["7002"],
@@ -3985,7 +3985,7 @@
"details": "TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in a single large family from Mali [@pmid:37994247]. Ten affected individuals were studied. Both TTTTA and TTTCA motifs were observed in all eight of the affected individuals with spanning reads, with allele sizes in the range: (TTTTA)278-773(TTTCA)9-334. A single individual was observed with additional motifs and interruptions in one allele with the structure: (TTTTA)exp(GGGGT)ins(GGGAT)ins(TTTCA)ins. TTTCA repeats were absent in 200 Malian controls, who had alleles in the range: (TTTCA)16-20. Reviewed in [@pmid:38876750]. It is uncertain if expansions at both the TTTTA and TTTCA motifs, or only the TTTCA motif are required for pathogenicity. The pathogenic range in STRchive is for the TTTCA motif only. Note: locus is partially deleted in T2T reference genome.",
"detection": null,
"mechanism": "Unknown",
- "mechanism_detail": "Expression isn't changed [@pmid:7994247].",
+ "mechanism_detail": "Expression isn't changed [@pmid:37994247].",
"year": "2024 [@pmid:37994247]",
"location_in_gene": "Intron 4",
"gene_strand": "+",
@@ -4032,7 +4032,7 @@
"webstr_hg19": [],
"locus_tags": ["motif_affects_onset"],
"disease_tags": ["familial_adult_myoclonic_epilepsy"],
- "references": ["pmid:7994247", "pmid:37994247", "pmid:38876750"],
+ "references": ["pmid:37994247", "pmid:38876750"],
"additional_literature": ["pmid:41874439", "pmid:41219789", "pmid:40541176", "pmid:38871700", "pmid:37339841", "pmid:34565721", "pmid:33186760", "pmid:32283749", "pmid:32281848", "pmid:30891880", "pmid:30622881", "pmid:25663198", "pmid:23897707", "pmid:17457615", "pmid:15148657", "pmid:11594924", "pmid:10915763", "pmid:8817239"]
},
{
@@ -4280,7 +4280,7 @@
"age_onset_max": 0.0,
"typ_age_onset_min": null,
"typ_age_onset_max": null,
- "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765].",
+ "details": "Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date [@gnomad:RUNX2; @pmid:26220009]. Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease [@pmid:20560987; @pmid:26220009]. The gene RUNX2 was previously called CBFA1, as reflected in some of the literature [@pmid:9182765]. Pathogenic range alleles up to 23 repeats have been detected in asymptomatic individuals, indicating potential incomplete penetrance [@pmid:40585427]. A polyglutamine expansion has also been noted in this locus. A 4 CAG motif expansion in the polyQ region has been found in one proband with CCD, while a 7 CAG expansion has been found in unaffected individuals. [@pmid:25852448].",
"detection": null,
"mechanism": "LoF",
"mechanism_detail": "Polyalanine expansion leading to haploinsufficiency [@pmid:26220009].",
@@ -4742,7 +4742,7 @@
"webstr_hg19": [],
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "motif_affects_instability"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781"],
+ "references": ["omim:607136", "pmid:35053321", "genereviews:NBK1438", "pmid:12805114", "pmid:35245110", "pmid:29100084", "pmid:10484774", "mondo:0011781"],
"additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41612618", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"]
},
{
@@ -4837,7 +4837,7 @@
"typ_age_onset_min": 40.0,
"typ_age_onset_max": 59.0,
"details": "Most controls have <40 repeats while majority of patients have >50 repeats; penetrance is <100%, as unaffected individuals have been documented with >80 repeats and alleles of affected individuals range from 12-2600 [@genereviews:NBK535148; @pmid:25168903]. Expansions are causative in approximately 70% of disease cases [@genereviews:NBK535148].",
- "detection": null,
+ "detection": "Short-read sequencing methods are reportedly unable to detect these expansions due to repeat size and GC richness [@pmid:32735996]. While RP-PCR and Small pool PCR can detect expansions, sequence level resolution generally required long-read sequencing [@pmid:32735996].",
"mechanism": "GoF",
"mechanism_detail": "Sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 [@pmid:25593321]. Variation in RAN translation [@pmid:38467784].",
"year": "2012 [@pmid:23185296]",
@@ -5003,7 +5003,7 @@
"intermediate_max": null,
"pathogenic_min": 1100,
"pathogenic_max": 1100,
- "motif_len": 3,
+ "motif_len": 5,
"ref_copies": 18.8,
"novel": "novel",
"gard": ["16758"],
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed
index e87fc27b..becdb088 100644
--- a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed
+++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed
@@ -2,7 +2,7 @@ chr1 870158 870178 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC=
chr1 57245935 57245973 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC=
chr1 94266544 94266567 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC=
chr1 148519695 148519738 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC=
-chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC=
+chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC=
chr1 155728131 155728159 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC=
chr2 96703674 96703732 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC=
chr2 100563685 100563738 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC=
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed
index f9028103..29ab82b3 100644
--- a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed
+++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed
@@ -3,7 +3,7 @@ chr1 870158 870178 AGCGGCGCGG 10 HMNR7_VWA1
chr1 57245970 57245973 GAAAT 5 SCA37_DAB1
chr1 94266544 94266567 CCG 3 OPDM5_ABCD3
chr1 148519695 148519738 CGG 3 NIID_NOTCH2NLC
-chr1 154328121 154330802 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG 61 ADTKD_MUC1
+chr1 154328121 154330802 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT 61 ADTKD_MUC1
chr1 155728131 155728159 CCGGG 5 NME_NAXE
chr2 96703674 96703677 AAATG 5 FAME2_STARD7
chr2 100563685 100563738 CCG 3 FRA2A_AFF3
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz
index 41a71796..2e2b1038 100644
Binary files a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz differ
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi
index e449153c..48592cf5 100644
Binary files a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi differ
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed
index aebd3435..763ce512 100644
--- a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed
+++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed
@@ -3,7 +3,7 @@ chr1 870158 870178 HMNR7_VWA1 VWA1 GGCGCGGAGC AGCGGCGCGG 1 AR Neuronopathy, dist
chr1 57245935 57245973 SCA37_DAB1 DAB1 AAAAT TGAAA 31 AD Spinocerebellar ataxia type 37
chr1 94266544 94266567 OPDM5_ABCD3 ABCD3 CCG CCG 118 AD Oculopharyngodistal myopathy type 5
chr1 148519695 148519738 NIID_NOTCH2NLC NOTCH2NLC CGG CGG 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6
-chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG None AD Autosomal dominant tubulointerstitial kidney disease
+chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT None AD Autosomal dominant tubulointerstitial kidney disease
chr1 155728131 155728159 NME_NAXE NAXE GGGCC CCGGG 200 AR NAXE-related mitochondrial encephalopathy
chr2 96703674 96703732 FAME2_STARD7 STARD7 AAAAT TGAAA 274 AD Familial adult myoclonic epilepsy 2
chr2 100563685 100563738 FRA2A_AFF3 AFF3 CCG CCG 300 AD Intellectual disability associated with fragile site FRA2A
diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed
index 8cd57661..17ac94fb 100644
--- a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed
+++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed
@@ -2,7 +2,7 @@ chr1 870159 870178 AGCGGCGCGG,GGCGCGGAGC HMNR7_VWA1
chr1 57245936 57245973 TGAAA,AAAAT SCA37_DAB1
chr1 94266545 94266567 CCG OPDM5_ABCD3
chr1 148519696 148519738 CGG NIID_NOTCH2NLC
-chr1 154328122 154330802 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
+chr1 154328122 154330802 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
chr1 155728132 155728159 CCGGG,GGGCC NME_NAXE
chr2 96703675 96703732 TGAAA,AAAAT FAME2_STARD7
chr2 100563686 100563738 CCG FRA2A_AFF3
diff --git a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed
index cec298cf..1913b77c 100644
--- a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed
+++ b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed
@@ -2,7 +2,7 @@ chr1 1371178 1371198 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC=
chr1 57832715 57832793 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC=
chr1 94883977 94884000 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC=
chr1 145209323 145209354 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC=
-chr1 155160981 155162030 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC=
+chr1 155160981 155162030 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC=
chr1 156561557 156561575 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC=
chr2 96862804 96862862 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC=
chr2 100721260 100721286 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC=
diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed
index 26e5c179..972a7eb0 100644
--- a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed
+++ b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed
@@ -3,7 +3,7 @@ chr1 1371178 1371198 AGCGGCGCGG 10 HMNR7_VWA1
chr1 57832750 57832793 GAAAT 5 SCA37_DAB1
chr1 94883977 94884000 CCG 3 OPDM5_ABCD3
chr1 145209323 145209354 CGG 3 NIID_NOTCH2NLC
-chr1 155160981 155162030 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG 61 ADTKD_MUC1
+chr1 155160981 155162030 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT 61 ADTKD_MUC1
chr1 156561557 156561575 CCGGG 5 NME_NAXE
chr2 96862804 96862807 AAATG 5 FAME2_STARD7
chr2 100721260 100721286 CCG 3 FRA2A_AFF3
diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz
index a98b1bf2..cddeea6d 100644
Binary files a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz differ
diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi
index c3f4aa33..65e7cc06 100644
Binary files a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi differ
diff --git a/data/catalogs/STRchive-disease-loci.hg19.general.bed b/data/catalogs/STRchive-disease-loci.hg19.general.bed
index aaa22850..bcde714a 100644
--- a/data/catalogs/STRchive-disease-loci.hg19.general.bed
+++ b/data/catalogs/STRchive-disease-loci.hg19.general.bed
@@ -3,7 +3,7 @@ chr1 1371178 1371198 HMNR7_VWA1 VWA1 GGCGCGGAGC AGCGGCGCGG 1 AR Neuronopathy, di
chr1 57832715 57832793 SCA37_DAB1 DAB1 AAAAT TGAAA 31 AD Spinocerebellar ataxia type 37
chr1 94883977 94884000 OPDM5_ABCD3 ABCD3 CCG CCG 118 AD Oculopharyngodistal myopathy type 5
chr1 145209323 145209354 NIID_NOTCH2NLC NOTCH2NLC CGG CGG 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6
-chr1 155160981 155162030 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG None AD Autosomal dominant tubulointerstitial kidney disease
+chr1 155160981 155162030 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT None AD Autosomal dominant tubulointerstitial kidney disease
chr1 156561557 156561575 NME_NAXE NAXE GGGCC CCGGG 200 AR NAXE-related mitochondrial encephalopathy
chr2 96862804 96862862 FAME2_STARD7 STARD7 AAAAT TGAAA 274 AD Familial adult myoclonic epilepsy 2
chr2 100721260 100721286 FRA2A_AFF3 AFF3 CCG CCG 300 AD Intellectual disability associated with fragile site FRA2A
diff --git a/data/catalogs/STRchive-disease-loci.hg19.longTR.bed b/data/catalogs/STRchive-disease-loci.hg19.longTR.bed
index 4d1c9eea..e96d1c34 100644
--- a/data/catalogs/STRchive-disease-loci.hg19.longTR.bed
+++ b/data/catalogs/STRchive-disease-loci.hg19.longTR.bed
@@ -2,7 +2,7 @@ chr1 1371179 1371198 AGCGGCGCGG,GGCGCGGAGC HMNR7_VWA1
chr1 57832716 57832793 TGAAA,AAAAT SCA37_DAB1
chr1 94883978 94884000 CCG OPDM5_ABCD3
chr1 145209324 145209354 CGG NIID_NOTCH2NLC
-chr1 155160982 155162030 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
+chr1 155160982 155162030 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
chr1 156561558 156561575 CCGGG,GGGCC NME_NAXE
chr2 96862805 96862862 TGAAA,AAAAT FAME2_STARD7
chr2 100721261 100721286 CCG FRA2A_AFF3
diff --git a/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed b/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed
index 46e289e9..60e8fbad 100644
--- a/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed
+++ b/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed
@@ -2,7 +2,7 @@ chr1 1435798 1435818 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC=
chr1 57367043 57367121 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC=
chr1 94418421 94418444 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC=
chr1 149390802 149390842 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC=
-chr1 155188505 155192239 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC=
+chr1 155188505 155192239 ID=ADTKD_MUC1;MOTIFS=CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT;STRUC=
chr1 156591765 156591783 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC=
chr2 96197066 96197124 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC=
chr2 100104798 100104824 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC=
diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed
index 337c4c77..f71b0580 100644
--- a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed
+++ b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed
@@ -3,7 +3,7 @@ chr1 1435798 1435818 AGCGGCGCGG 10 HMNR7_VWA1
chr1 57367078 57367121 GAAAT 5 SCA37_DAB1
chr1 94418421 94418444 CCG 3 OPDM5_ABCD3
chr1 149390802 149390842 CGG 3 NIID_NOTCH2NLC
-chr1 155188505 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG 61 ADTKD_MUC1
+chr1 155188505 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT 61 ADTKD_MUC1
chr1 156591765 156591783 CCGGG 5 NME_NAXE
chr2 96197066 96197069 AAATG 5 FAME2_STARD7
chr2 100104798 100104824 CCG 3 FRA2A_AFF3
diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz
index 7ab40150..1f6881be 100644
Binary files a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz differ
diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi
index e1a7226d..5afce915 100644
Binary files a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi differ
diff --git a/data/catalogs/STRchive-disease-loci.hg38.general.bed b/data/catalogs/STRchive-disease-loci.hg38.general.bed
index c2f85cf8..4c7c2c7b 100644
--- a/data/catalogs/STRchive-disease-loci.hg38.general.bed
+++ b/data/catalogs/STRchive-disease-loci.hg38.general.bed
@@ -3,7 +3,7 @@ chr1 1435798 1435818 HMNR7_VWA1 VWA1 GGCGCGGAGC AGCGGCGCGG 1 AR Neuronopathy, di
chr1 57367043 57367121 SCA37_DAB1 DAB1 AAAAT TGAAA 31 AD Spinocerebellar ataxia type 37
chr1 94418421 94418444 OPDM5_ABCD3 ABCD3 CCG CCG 118 AD Oculopharyngodistal myopathy type 5
chr1 149390802 149390842 NIID_NOTCH2NLC NOTCH2NLC CGG CGG 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6
-chr1 155188505 155192239 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG None AD Autosomal dominant tubulointerstitial kidney disease
+chr1 155188505 155192239 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT None AD Autosomal dominant tubulointerstitial kidney disease
chr1 156591765 156591783 NME_NAXE NAXE GGGCC CCGGG 200 AR NAXE-related mitochondrial encephalopathy
chr2 96197066 96197124 FAME2_STARD7 STARD7 AAAAT TGAAA 274 AD Familial adult myoclonic epilepsy 2
chr2 100104798 100104824 FRA2A_AFF3 AFF3 CCG CCG 300 AD Intellectual disability associated with fragile site FRA2A
diff --git a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed
index 49ae12bc..73f1454e 100644
--- a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed
+++ b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed
@@ -2,7 +2,7 @@ chr1 1435799 1435818 AGCGGCGCGG,GGCGCGGAGC HMNR7_VWA1
chr1 57367044 57367121 TGAAA,AAAAT SCA37_DAB1
chr1 94418422 94418444 CCG OPDM5_ABCD3
chr1 149390803 149390842 CGG NIID_NOTCH2NLC
-chr1 155188506 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
+chr1 155188506 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG ADTKD_MUC1
chr1 156591766 156591783 CCGGG,GGGCC NME_NAXE
chr2 96197067 96197124 TGAAA,AAAAT FAME2_STARD7
chr2 100104799 100104824 CCG FRA2A_AFF3
diff --git a/data/plots/path-size.json b/data/plots/path-size.json
index c290dc3b..79f986a3 100644
--- a/data/plots/path-size.json
+++ b/data/plots/path-size.json
@@ -1,7 +1,7 @@
{
"data": [
{
- "base": [0, 50, 18, 2871, 0, 0, 1, 15, 1, 0, 15, 252, 10, 24, 9, 18, 12, 15, 1, 0, 0, 9, 0, 24, 18, 9, 15, 44, 0, 20, 39, 1, 1, 1, 45, 0, 21, 12, 33, 48, 15, 1, 18, 30, 15, 75, 18, 42, 60, 18, 96, 18, 27, 12, 18, 42, 27, 45, 45, 42, 24, 45, 45, 12, 36, 12, 36, 21, 30, 42, 0, 30, 30, 18, 15, 16, 20, 30],
+ "base": [0, 0, 50, 18, 2871, 0, 1, 15, 1, 0, 15, 252, 10, 24, 9, 18, 12, 15, 1, 0, 0, 9, 0, 24, 18, 9, 15, 44, 0, 20, 39, 1, 1, 1, 45, 0, 21, 12, 33, 48, 15, 1, 18, 30, 15, 75, 18, 42, 60, 18, 96, 18, 27, 12, 18, 42, 27, 45, 45, 42, 24, 45, 45, 12, 36, 12, 36, 21, 30, 42, 0, 30, 30, 18, 15, 16, 20, 30],
"hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp",
"legendgroup": "Benign",
"marker":
@@ -12,12 +12,12 @@
"offset": -0.3,
"orientation": "h",
"width": 0.6,
- "x": [0, 110, 66, 198, 0, 0, 143, 99, 54, 0, 51, 780, 25, 513, 51, 51, 105, 117, 149, 0, 0, 39, 0, 12, 30, 123, 222, 60, 0, 220, 96, 179, 95, 59, 105, 0, 90, 126, 99, 51, 84, 149, 78, 87, 87, 45, 87, 36, 54, 66, 0, 87, 75, 69, 60, 42, 33, 0, 0, 0, 30, 0, 0, 42, 0, 39, 0, 21, 18, 0, 0, 0, 0, 12, 0, 0, 0, 0],
- "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
+ "x": [0, 0, 110, 66, 198, 0, 143, 99, 54, 0, 51, 780, 25, 513, 51, 51, 105, 117, 149, 0, 0, 39, 0, 12, 30, 123, 222, 60, 0, 220, 96, 179, 95, 59, 105, 0, 90, 126, 99, 51, 84, 149, 78, 87, 87, 45, 87, 36, 54, 66, 0, 87, 75, 69, 60, 42, 33, 0, 0, 0, 30, 0, 0, 42, 0, 39, 0, 21, 18, 0, 0, 0, 0, 12, 0, 0, 0, 0],
+ "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
"type": "bar"
},
{
- "base": [0, 165, 90, 0, 0, 0, 147, 0, 55, 0, 126, 0, 0, 540, 0, 417, 120, 135, 474, 0, 0, 0, 0, 0, 0, 0, 240, 108, 0, 260, 0, 0, 0, 0, 150, 0, 114, 144, 135, 0, 102, 0, 120, 120, 105, 123, 108, 81, 0, 87, 0, 108, 108, 84, 81, 87, 63, 0, 0, 0, 0, 0, 0, 57, 0, 0, 0, 0, 0, 0, 0, 33, 33, 0, 0, 0, 0, 0],
+ "base": [0, 0, 165, 90, 0, 0, 147, 0, 55, 0, 126, 0, 0, 540, 0, 417, 120, 135, 474, 0, 0, 0, 0, 0, 0, 0, 240, 108, 0, 260, 0, 0, 0, 0, 150, 0, 114, 144, 135, 0, 102, 0, 120, 120, 105, 123, 108, 81, 0, 87, 0, 108, 108, 84, 81, 87, 63, 0, 0, 0, 0, 0, 0, 57, 0, 0, 0, 0, 0, 0, 0, 33, 33, 0, 0, 0, 0, 0],
"hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp",
"legendgroup": "Intermediate",
"marker":
@@ -28,12 +28,12 @@
"offset": -0.3,
"orientation": "h",
"width": 0.6,
- "x": [0, 4085, 3804, 0, 0, 0, 246, 0, 945, 0, 129, 0, 0, 417, 0, 201, 480, 465, 0, 0, 0, 0, 0, 0, 0, 0, 60, 188, 0, 0, 0, 0, 0, 0, 60, 0, 81, 36, 42, 0, 63, 0, 27, 30, 42, 21, 33, 54, 0, 30, 0, 6, 3, 21, 24, 15, 12, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0],
- "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
+ "x": [0, 0, 4085, 3804, 0, 0, 246, 0, 945, 0, 129, 0, 0, 417, 0, 201, 480, 465, 0, 0, 0, 0, 0, 0, 0, 0, 60, 188, 0, 0, 0, 0, 0, 0, 60, 0, 81, 36, 42, 0, 63, 0, 27, 30, 42, 21, 33, 54, 0, 30, 0, 6, 3, 21, 24, 15, 12, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0],
+ "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
"type": "bar"
},
{
- "base": [5000, 4000, 3900, 3663, 3300, 3250, 2235, 2040, 2000, 1370, 1350, 1260, 1000, 960, 900, 819, 603, 603, 582, 550, 525, 483, 380, 360, 360, 354, 303, 300, 300, 280, 255, 249, 219, 216, 213, 210, 198, 186, 180, 177, 168, 155, 153, 153, 150, 147, 144, 138, 135, 120, 120, 117, 114, 111, 108, 105, 78, 75, 75, 66, 66, 66, 66, 63, 60, 60, 54, 54, 51, 45, 45, 36, 36, 33, 18, 12, 10, 0],
+ "base": [5500, 5000, 4000, 3900, 3663, 3250, 2235, 2040, 2000, 1370, 1350, 1260, 1000, 960, 900, 819, 603, 603, 582, 550, 525, 483, 380, 360, 360, 354, 303, 300, 300, 280, 255, 249, 219, 216, 213, 210, 198, 186, 180, 177, 168, 155, 153, 153, 150, 147, 144, 138, 135, 120, 120, 117, 114, 111, 108, 105, 78, 75, 75, 66, 66, 66, 66, 63, 60, 60, 54, 54, 51, 45, 45, 36, 36, 33, 18, 12, 10, 0],
"hovertemplate": "Disease: %{y} \u003cbr\u003e Range: %{base} - %{x} bp",
"legendgroup": "Pathogenic",
"marker":
@@ -44,8 +44,8 @@
"offset": -0.3,
"orientation": "h",
"width": 0.6,
- "x": [0, 18500, 11100, 1287, 0, 1925, 705, 2460, 11750, 1420, 0, 294, 0, 1851, 0, 99, 5397, 5397, 12, 3250, 17875, 1617, 820, 1140, 231, 1728, 597, 43700, 10700, 40, 612, 195, 273, 114, 3687, 102, 1353, 24342, 81, 69, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 60, 264, 156, 90, 1269, 642, 1395, 21, 0, 0, 0, 30, 3, 12, 36, 0, 21, 0, 3, 30, 27, 1625, 18, 0, 135, 3, 0, 20, 0],
- "y": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
+ "x": [0, 0, 18500, 11100, 1287, 1925, 705, 2460, 11750, 1420, 0, 294, 0, 1851, 0, 99, 5397, 5397, 12, 3250, 17875, 1617, 820, 1140, 231, 1728, 597, 43700, 10700, 40, 612, 195, 273, 114, 3687, 102, 1353, 24342, 81, 69, 4932, 220, 81, 7647, 11850, 51, 135, 84, 165, 60, 264, 156, 90, 1269, 642, 1395, 21, 0, 0, 0, 30, 3, 12, 36, 0, 21, 0, 3, 30, 27, 1625, 18, 0, 135, 3, 0, 20, 0],
+ "y": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
"type": "bar"
},
{
@@ -1350,8 +1350,8 @@
"mode": "markers",
"name": "Pathogenic",
"showlegend": false,
- "x": [5000, 3300, 1350, 1000, 900, 75, 75, 66, 60, 54, 36, 12],
- "y": ["FAME4", "FAME6", "FRA7A", "NME", "FRA2A", "TOF", "HPE5", "HFG-I", "PRTS", "HFG-II", "VACTERLX", "CHNG3"],
+ "x": [5500, 5000, 1350, 1000, 900, 75, 75, 66, 60, 54, 36, 12],
+ "y": ["FAME6", "FAME4", "FRA7A", "NME", "FRA2A", "TOF", "HPE5", "HFG-I", "PRTS", "HFG-II", "VACTERLX", "CHNG3"],
"type": "scatter"
}],
"layout":
@@ -1934,7 +1934,7 @@
"yaxis":
{
"tickmode": "array",
- "tickvals": ["FAME4", "SCA10", "SCA36", "MRUPAV", "FAME6", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
+ "tickvals": ["FAME6", "FAME4", "SCA10", "SCA36", "MRUPAV", "FAME3", "EPM, DEE", "GDPAG", "CANVAS", "FAME2", "FRA7A", "CPUM", "NME", "SCA27B", "FRA2A", "FRA12A", "FRAXE", "FXS, FXTAS, POF1", "OPDM", "SCA31", "FAME1", "OPML1", "aFTLD-U", "EPM1", "OPDM4", "OPDM5", "JBS", "DM2", "FAME7", "RCPS", "OPDM1", "OPDM", "OPDM2", "DBQD2, BSS", "SCA8", "XDP", "NIID", "FTDALS1", "SCA3, MJD", "DMD", "FRDA", "SCA37", "SCA12", "FECD3", "DM1", "SCA17", "DRPLA", "SCA4", "SCA51", "HDL2", "CJD", "SCA1", "SBMA", "SCA7", "HD", "SCA2", "CCHS", "TOF", "HPE5", "HFG-I", "HFG-III", "SD5", "XLID, PHPX", "SCA6", "PRTS", "CCD", "HFG-II", "HSAN VIII", "EIEE1", "BPES", "FAME8", "OPMD", "VACTERLX", "ALS1", "EDM1, PSACH", "CHNG3", "HMNR7", "CPEO"],
"title":
{
"text": "Disease"
diff --git a/data/ref-alleles/ref-alleles.T2T-chm13.txt b/data/ref-alleles/ref-alleles.T2T-chm13.txt
index e032892d..936c5f52 100644
--- a/data/ref-alleles/ref-alleles.T2T-chm13.txt
+++ b/data/ref-alleles/ref-alleles.T2T-chm13.txt
@@ -23,8 +23,8 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA
GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA
ADTKD_MUC1
-chr1 154328121 154330802 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive
-chr1 154328121 154330802 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT
+chr1 154328121 154330802 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive
+chr1 154328121 154330802 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT
TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
diff --git a/data/ref-alleles/ref-alleles.hg19.txt b/data/ref-alleles/ref-alleles.hg19.txt
index 8263f3de..16a0fd19 100644
--- a/data/ref-alleles/ref-alleles.hg19.txt
+++ b/data/ref-alleles/ref-alleles.hg19.txt
@@ -23,8 +23,8 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG AGGAGGCG ACCGAGAAGA
GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG AGGAGGCG ACCGAGAAGA
ADTKD_MUC1
-chr1 155160981 155162030 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive
-chr1 155160981 155162030 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT
+chr1 155160981 155162030 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive
+chr1 155160981 155162030 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT
TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
diff --git a/data/ref-alleles/ref-alleles.hg38.txt b/data/ref-alleles/ref-alleles.hg38.txt
index 9437d479..2e58cb5a 100644
--- a/data/ref-alleles/ref-alleles.hg38.txt
+++ b/data/ref-alleles/ref-alleles.hg38.txt
@@ -23,10 +23,10 @@ GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA
GATCTGCCCA GG CGG CGG CGG CGG CGG CGG CGG CGG CGG AGGAGG CGG CG ACCGAGAAGA
ADTKD_MUC1
-chr1 155188505 155192239 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG STRchive
-chr1 155188505 155192239 ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG TRGT
-TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
+chr1 155188505 155192239 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT STRchive
+chr1 155188505 155192239 CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT TRGT
TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
+TGCAGAGCCT GAGGCCGAGGTGACATTGTGGACTGGAGGGGCGGTGGAGCCCAAGGCGGGCCTGTTGTCCGGGGCCGAGGTGACACCATG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGGGTGGAGCCCGGGGCCCGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGTGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGGGGCCGAGGTGACACCGTG GGTTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGCGCGGTGGAGCCCGGGCCAGAACTGCTTTCCGGGGCCGTGGTGACTCCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGAACTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGGGGGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCTGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAACCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGACCGACCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGACCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGTGGTGGAGCCCAGGGCTGGCCTGGTGACTGGGACCGAGGTGACATCCTGTCCCCAGGTGGCAGCTGAACCTGAAGCTGGTTCCGTGGCCGGGGCCAGAGTGACATCCTGTCCCTGAGTGGTGGAGGAGCCTGAACCGGGGCTGTGGCTGGAGAGTACGCTGCTGGTCATACTCACAGCATTCTTCTCAGTAGAGCTGGGCACTGAACTTCTCTGGGTAGCCGAAGTCTCCTT TTCTCCACCT
NME_NAXE
chr1 156591765 156591783 GGGCC,CCGGG STRchive
diff --git a/site/public/images/team/gabriel-zinser.jpg b/site/public/images/team/gabriel-zinser.jpg
deleted file mode 100644
index b4615437..00000000
Binary files a/site/public/images/team/gabriel-zinser.jpg and /dev/null differ
diff --git a/site/public/images/team/gabriel_zinser.jpg b/site/public/images/team/gabriel_zinser.jpg
new file mode 100644
index 00000000..7156ff1c
Binary files /dev/null and b/site/public/images/team/gabriel_zinser.jpg differ